ClinVar Miner

Variants from Fulgent Genetics, Fulgent Genetics

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
4371 2893 26972 11768 1384 1 47386

Gene and significance breakdown #

Total genes and gene combinations: 3369
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
TTN 14 52 936 121 16 0 1139
CACNA1H 0 0 324 247 16 0 587
ALMS1 23 30 390 81 3 0 527
PKD1 157 33 157 141 16 0 504
RYR1 16 29 393 34 21 0 493
LRP2 0 6 228 127 15 0 376
PKHD1 45 46 164 76 3 0 334
SLX4 2 4 236 49 1 0 292
TSC2 16 6 116 150 3 0 291
FANCA 18 22 170 71 3 0 284
CEP290 47 25 145 53 0 0 270
NF1 31 12 139 83 0 0 265
NPHP4 6 10 203 37 0 0 256
LRP5 2 3 153 91 4 0 253
DSP 3 6 199 27 5 0 240
FBN1 13 9 197 18 0 0 237
APOB 7 4 211 14 0 0 236
CACNA1S 1 8 140 81 3 0 233
WFS1 13 11 140 66 3 0 233
CPLANE1 18 13 133 50 5 0 219
FANCM 0 0 186 29 0 0 215
BRCA2 69 5 77 39 22 0 212
CHD7 4 1 122 74 7 0 208
PALB2 27 5 136 37 2 0 207
ABCC6 25 14 96 60 7 0 202
RET 5 1 130 54 2 0 192
CUBN 8 11 126 43 2 0 190
RYR2 1 0 166 18 0 0 185
GAA 46 22 99 17 0 0 184
ATP7B 44 30 75 27 2 0 178
MYH6 0 0 142 30 5 0 177
PLCG2 0 0 87 89 1 0 177
WNK1 1 0 109 60 6 0 176
COL4A4 24 41 59 48 2 0 174
FANCI 3 9 120 39 3 0 174
MYBPC3 28 8 116 18 3 0 173
SCN5A 12 5 139 9 4 0 169
CEP164 1 14 95 53 1 0 164
USH2A 36 14 79 26 8 0 163
ANK2 0 0 136 20 5 0 161
FRAS1 7 7 96 48 3 0 161
RPGRIP1L 5 20 104 30 1 0 160
IFT140 1 11 106 38 1 0 157
INF2 5 2 73 72 4 0 156
AKAP9 0 0 130 17 7 0 154
ATM 29 14 100 6 3 0 152
COL4A3, MFF-DT 21 36 45 49 0 0 151
ELP1 3 12 95 35 1 0 146
MYH7 13 8 93 27 5 0 146
DMD 8 2 104 25 6 0 145
IFT172 2 4 95 44 0 0 145
LAMB2 2 3 108 29 3 0 145
COL4A5 46 42 16 38 2 0 144
LRP4 1 3 102 36 2 0 144
BRCA1 50 2 33 32 18 0 135
CFTR 52 6 71 3 3 0 135
NPHP3, NPHP3-ACAD11 10 10 82 33 0 0 135
KCNH2 3 2 113 14 1 0 133
SI 4 11 64 51 3 0 133
MYLK 0 0 107 23 2 0 132
FLNC 1 2 101 24 3 0 131
TTC21B 5 8 91 24 3 0 131
LAMA4 0 0 104 19 2 0 125
GH-LCR, SCN4A 6 1 79 37 1 0 124
AHI1 10 9 77 27 0 0 123
SLC12A3 39 31 24 26 1 0 121
ABCC8 16 12 60 29 2 0 119
NPHS1 14 19 41 43 2 0 119
CDH23 6 3 90 12 5 0 116
CASR 9 6 74 26 0 0 115
RBM20 2 0 105 8 0 0 115
AGL 17 17 74 4 2 0 114
WDR19 1 7 74 31 1 0 114
COL4A1 1 3 45 62 1 0 112
JAG1 2 0 59 46 5 0 112
NOTCH2 0 0 78 31 2 0 111
BBS9 5 4 64 36 1 0 110
FLCN 8 4 70 26 2 0 110
POLE 1 0 84 22 3 0 110
LDLR 31 14 54 9 1 0 109
LMNA 5 3 80 19 1 0 108
SRCAP 1 0 43 61 3 0 108
MYH9 3 1 47 54 2 0 107
DHCR7 23 17 42 18 2 0 102
PKD2 39 5 41 15 1 0 101
BBS2 14 4 56 25 1 0 100
CACNA1C 0 1 77 19 3 0 100
CREBBP 2 1 35 57 5 0 100
FN1 1 0 50 46 3 0 100
FREM2 1 2 65 30 2 0 100
MMUT 29 18 36 17 0 0 100
VCL 0 0 85 13 2 0 100
MEFV 4 2 74 18 2 0 99
NSD1 2 2 57 31 7 0 99
C3 0 2 41 51 4 0 98
DSG2 3 8 71 13 3 0 98
JUP 0 0 86 12 0 0 98
SMARCAL1 8 6 54 28 1 0 97
ADGRV1 3 2 59 18 14 0 96
C5 2 3 50 40 0 0 95
MYPN 0 1 79 13 2 0 95
SLC34A3 6 5 54 28 1 0 94
APC 14 2 63 10 3 0 92
INVS 6 5 66 13 2 0 92
FANCD2, LOC107303338 4 9 48 29 1 0 91
SCN4A 2 1 61 26 0 0 90
TSC1 6 1 42 38 3 0 90
XDH 5 2 56 26 1 0 90
MYO7A 19 10 51 5 4 0 89
PAH 61 14 8 2 4 0 89
POLG, POLGARF 9 3 66 10 0 0 88
GLI3 1 0 38 40 7 0 86
GSN 1 0 49 36 0 0 86
ACTN2 0 0 73 12 0 0 85
ASTN2, TRIM32 0 4 73 8 0 0 85
SOS1 7 1 61 14 2 0 85
KANK1 0 0 49 33 2 0 84
LAMA2 10 7 58 6 3 0 84
MSH6 13 3 53 11 4 0 84
IFT122 1 4 55 21 2 0 83
TMEM67 13 4 43 23 0 0 83
TRPM4 0 0 75 7 1 0 83
ALPL 19 16 21 24 2 0 82
COL3A1 6 3 67 2 3 0 81
KAT6B 0 0 35 44 1 0 80
KCNQ1 16 11 45 8 0 0 80
PTPN11 28 4 29 18 1 0 80
SGCD 1 0 72 5 2 0 80
ALG13 1 0 32 44 2 0 79
HPS1 9 3 36 29 2 0 79
IFT140, LOC105371046 5 3 47 23 1 0 79
ATM, C11orf65 19 8 46 4 1 0 78
CFH 3 3 37 30 5 0 78
DNAH5 13 11 38 14 1 0 77
RECQL4 6 3 67 1 0 0 77
NEB 9 11 38 16 2 0 76
ROR2 0 2 44 27 2 0 75
NPHP1 4 8 50 12 0 0 74
ADA2 9 4 46 14 0 0 73
FGFR1 1 5 39 26 2 0 73
MYH11 0 1 65 7 0 0 73
PMS2 11 6 51 4 1 0 73
AOPEP, FANCC 5 5 52 10 0 0 72
BBS12 8 14 44 6 0 0 72
VPS13B 11 5 53 2 1 0 72
AGXT 20 14 15 20 2 0 71
ALG1 6 5 26 30 4 0 71
KANSL1 0 0 30 39 2 0 71
PCSK9 0 0 60 9 2 0 71
SCN10A 0 0 56 14 1 0 71
SDCCAG8 2 4 48 17 0 0 71
WDPCP 1 1 50 19 0 0 71
CPT2 9 7 42 12 0 0 70
PKP2 11 3 51 4 1 0 70
BBS10 14 8 29 18 0 0 69
FANCG 8 4 40 17 0 0 69
FKRP 5 6 50 6 2 0 69
NOTCH1 0 0 43 18 8 0 69
SDHA 3 9 52 5 0 0 69
COL7A1 19 8 32 7 2 0 68
NLRP3 2 1 42 22 1 0 68
HCN4 0 0 60 6 1 0 67
RAD51C 9 6 41 11 0 0 67
IDUA, SLC26A1 2 1 35 25 3 0 66
MLH1 8 7 38 11 2 0 66
DSC2 1 3 54 6 1 0 65
LDB3 0 0 52 10 3 0 65
CHEK2 10 4 49 1 0 0 64
EYS 12 10 36 6 0 0 64
NPC1 11 8 33 7 5 0 64
PCDH15 4 4 42 11 3 0 64
FREM1 0 1 46 16 0 0 63
LRRK2 2 0 30 22 9 0 63
PMM2 17 14 20 11 1 0 63
BAG3 3 1 51 5 2 0 62
FANCE 4 2 41 15 0 0 62
RELN 0 0 44 15 3 0 62
BLM 9 12 36 4 0 0 61
IQCB1 6 0 41 14 0 0 61
SLC26A4 23 10 18 7 3 0 61
SLC7A7 5 9 29 18 0 0 61
BBS1, ZDHHC24 8 3 41 8 0 0 60
BBS4 2 3 37 17 1 0 60
BBS7 6 2 37 15 0 0 60
GJB2 33 4 14 6 3 0 60
SLC22A5 16 12 29 1 2 0 60
ABCA4 24 10 20 0 5 0 59
HNF1A 5 4 33 16 1 0 59
MSH2 7 3 36 11 2 0 59
SLC37A4 5 7 39 8 0 0 59
SLC6A19 4 1 23 30 1 0 59
DNAH11 4 3 36 12 3 0 58
NBN 7 6 36 7 2 0 58
TRDN 2 3 45 8 0 0 58
CASQ2 2 7 42 3 2 0 56
DES 2 3 46 4 1 0 56
ACE 1 3 31 19 1 0 55
ATP6V1B1 8 6 24 17 0 0 55
CFI 5 3 27 20 0 0 55
GLIS3 1 1 36 16 1 0 55
MMACHC 14 6 22 13 0 0 55
NEDD4L 0 0 23 29 3 0 55
OPLAH 2 2 24 24 3 0 55
ANKS6 2 0 23 29 0 0 54
FGFR2 9 2 26 16 1 0 54
FKTN 5 4 40 4 1 0 54
MOCOS 1 3 26 22 2 0 54
SCARB2 3 1 32 17 1 0 54
SEMA3E 0 0 35 19 0 0 54
TMEM43 0 0 42 7 5 0 54
DYSF 15 9 28 1 0 0 53
FANCL 0 3 38 10 2 0 53
MYH11, NDE1 0 0 51 2 0 0 53
MYO1E 1 0 24 25 3 0 53
NEXN 0 0 49 3 1 0 53
POLD1 0 0 43 10 0 0 53
GNAS 7 0 9 33 2 0 51
BRIP1 8 4 32 4 2 0 50
CDKN1C 0 0 35 12 3 0 50
SLC12A1 4 1 30 14 1 0 50
GLA, RPL36A-HNRNPH2 18 8 17 5 1 0 49
ADAMTS13 2 2 32 9 3 0 48
CAPN3 18 4 23 1 2 0 48
CTNS 13 4 17 14 0 0 48
KMT2D 3 0 25 17 3 0 48
RMRP 5 17 25 1 0 0 48
SALL1 3 0 19 25 1 0 48
SLC4A1 4 4 26 14 0 0 48
JPH2 0 0 44 3 0 0 47
ZNF469 0 0 36 9 2 0 47
ABCC9 0 0 39 7 0 0 46
ACTN4 1 0 14 27 4 0 46
LYST 0 0 39 7 0 0 46
MUTYH 14 1 27 3 1 0 46
RAD50 8 4 32 2 0 0 46
SMARCA4 0 0 29 17 0 0 46
CACNB2 0 0 35 9 1 0 45
CLCNKB, LOC106501713 10 1 14 19 1 0 45
CYP11B1, LOC106799833 5 8 12 18 2 0 45
GBA1, LOC106627981 25 7 8 4 0 1 45
NOTCH3 6 4 14 19 2 0 45
EIF2AK3 1 0 30 13 0 0 44
KCNA5 0 1 43 0 0 0 44
KCNJ5 0 0 28 15 1 0 44
MVK 6 3 26 9 0 0 44
CBL 0 1 36 4 2 0 43
CDC73 3 0 25 14 1 0 43
COL12A1 0 1 29 13 0 0 43
NEK8 2 2 29 9 1 0 43
OFD1 5 0 15 22 1 0 43
PTCH1 0 0 35 7 1 0 43
SYNE1 1 0 22 20 0 0 43
TRPM6 1 0 20 22 0 0 43
UMOD 6 5 19 11 2 0 43
ASPM 3 2 21 15 1 0 42
BSCL2, HNRNPUL2-BSCL2 2 0 30 10 0 0 42
CBS 11 4 22 3 2 0 42
FANCD2, FANCD2OS 0 1 30 11 0 0 42
HNF4A 2 4 24 11 1 0 42
MKKS 4 4 23 11 0 0 42
PRODH 1 3 17 18 3 0 42
BRAF 2 4 11 23 1 0 41
CACNA1A 3 0 24 13 1 0 41
CYP11B2, LOC106799834 3 5 9 20 4 0 41
EYA1 3 3 18 16 1 0 41
FANCF 2 0 39 0 0 0 41
LOXHD1 4 4 31 2 0 0 41
SACS 6 4 28 3 0 0 41
CLCN2 1 3 14 20 2 0 40
TTR 5 2 21 12 0 0 40
ATP6V0A4 5 5 17 11 1 0 39
COL5A1 0 1 19 15 4 0 39
HBB, LOC106099062, LOC107133510 27 3 6 2 1 0 39
PCNT 2 0 27 9 1 0 39
TGFBR2 1 0 32 6 0 0 39
TNXB 0 0 19 11 9 0 39
BMPR2 6 1 22 9 0 0 38
FLNA 0 0 21 14 3 0 38
G6PC1 11 6 12 9 0 0 38
KCNE1 1 1 33 2 1 0 38
KL 0 0 24 11 3 0 38
PAX2 7 4 11 14 2 0 38
PLEC 0 0 23 15 0 0 38
SLC3A1 6 4 22 5 1 0 38
TCIRG1 6 5 25 2 0 0 38
WT1 7 0 19 12 0 0 38
ATP13A2 1 3 25 7 1 0 37
BARD1 5 1 25 3 3 0 37
FANCA, ZNF276 6 5 22 4 0 0 37
FBN2 0 0 25 8 4 0 37
IFT43 0 0 22 12 3 0 37
SLC34A1 1 3 18 13 2 0 37
SNTA1 0 0 34 2 1 0 37
COL1A1 13 2 9 8 4 0 36
CRB1 9 5 18 4 0 0 36
DNASE1L3 0 0 24 12 0 0 36
DOLK 0 0 34 2 0 0 36
FANCC 8 5 17 6 0 0 36
GATM 1 0 22 13 0 0 36
HGD 14 2 5 14 1 0 36
SLC5A1 1 0 25 9 1 0 36
CDH1 6 2 16 10 1 0 35
CSRP3 0 0 33 1 1 0 35
FASTKD2 0 2 20 13 0 0 35
GCK 8 4 12 10 1 0 35
ITGA3 0 2 7 26 0 0 35
ITGB4 2 0 20 13 0 0 35
KCNJ2 2 0 29 2 2 0 35
SLC7A9 8 6 12 9 0 0 35
WRN 3 5 26 0 1 0 35
BBS1 4 1 23 6 0 0 34
GLDC 7 8 13 4 2 0 34
HOGA1 5 7 16 6 0 0 34
KCNJ10 2 2 25 5 0 0 34
LPIN1 2 1 21 9 1 0 34
NKX2-5 0 1 28 4 1 0 34
PLA2G6 6 3 24 1 0 0 34
SALL4 0 0 15 17 2 0 34
SMC1A 0 1 7 24 2 0 34
TGFB2 0 0 29 3 2 0 34
ARSA 14 5 13 1 0 0 33
CC2D2A 6 2 22 3 0 0 33
MYO15A 4 6 22 0 1 0 33
PLCE1 1 1 22 8 1 0 33
PRKCSH 3 2 8 20 0 0 33
PRKN 11 7 8 5 3 0 33
RTEL1, RTEL1-TNFRSF6B 2 4 25 2 0 0 33
TNNT2 3 3 21 5 1 0 33
TTC8 0 0 25 8 0 0 33
WAS 2 0 14 16 1 0 33
ALMS1, LOC126806252 0 0 25 7 0 0 32
AMN 1 2 10 17 2 0 32
CNTNAP2 0 0 29 3 0 0 32
GRHPR 7 10 6 9 0 0 32
LMX1B 5 0 9 17 1 0 32
TP63 0 0 15 17 0 0 32
ALG8 3 8 13 7 0 0 31
BSND 4 1 12 13 1 0 31
CYP24A1 4 1 14 12 0 0 31
PLG 1 1 20 7 2 0 31
PTH1R 0 0 18 12 1 0 31
TH 2 3 23 2 1 0 31
TPP1 10 1 13 6 1 0 31
AGPAT2 4 2 16 8 0 0 30
KCNJ11 0 4 22 4 0 0 30
LOC126862264, MEFV 3 1 23 3 0 0 30
VHL 0 1 27 2 0 0 30
ACTB 0 1 1 25 2 0 29
ACVRL1 6 4 17 1 1 0 29
ADCY10 0 1 15 12 1 0 29
AIRE 5 7 14 3 0 0 29
CD2AP 3 1 11 14 0 0 29
EVC2 5 7 10 6 1 0 29
HSPG2 1 0 20 7 1 0 29
LOC114827851, MYH6 0 0 27 2 0 0 29
OTOF 5 4 15 2 3 0 29
SPG11 8 3 13 3 2 0 29
TGFB3 0 2 22 5 0 0 29
BBS5 1 3 18 6 0 0 28
EGF 0 0 15 11 2 0 28
FANCB 0 0 18 10 0 0 28
FOXP3 0 0 15 13 0 0 28
GLIS2 0 0 19 8 1 0 28
LOC126861897, MHRT, MYH7 0 1 23 2 2 0 28
PTEN 9 3 13 2 1 0 28
PYGM 8 4 14 2 0 0 28
TP53 13 2 6 5 2 0 28
TYR 13 6 7 2 0 0 28
CCDC40 4 3 17 2 1 0 27
ENG 6 1 17 3 0 0 27
FOXC1 0 0 25 2 0 0 27
GALK1, ITGB4 0 3 15 7 2 0 27
GPD1L 0 0 19 8 0 0 27
HNF1B 9 2 8 8 0 0 27
MAN2B1 3 4 13 3 4 0 27
NEUROD1 0 0 22 5 0 0 27
NRXN1 0 0 22 5 0 0 27
PINK1 1 0 21 3 2 0 27
PPP3CA 0 0 6 21 0 0 27
PRDM16 0 0 19 6 2 0 27
PROC 4 4 15 2 2 0 27
SEC63 2 4 2 17 2 0 27
TRPC6 2 1 12 11 1 0 27
WNK4 1 0 7 19 0 0 27
ANK2, LOC126807137 0 0 23 2 1 0 26
AXIN2 0 0 14 9 3 0 26
COL2A1 5 0 7 11 3 0 26
CPS1 1 4 14 5 2 0 26
CYP17A1 6 4 5 11 0 0 26
DICER1 1 1 14 9 1 0 26
DNAH1 0 3 14 7 2 0 26
DYNC1H1 1 1 10 14 0 0 26
ENPP1 1 1 15 8 1 0 26
FGFR3 10 0 10 5 1 0 26
GALC 4 5 13 3 1 0 26
GNA11 1 0 8 16 1 0 26
GRN 0 0 19 6 1 0 26
LOC110121269, SCN5A 0 1 23 1 1 0 26
SCN1B 2 0 20 4 0 0 26
SGSH 8 8 9 1 0 0 26
SLC22A12 1 3 14 8 0 0 26
SLC2A9 1 2 8 10 5 0 26
STAR 7 7 5 7 0 0 26
TCAP 1 2 20 3 0 0 26
ACADVL 10 2 10 3 0 0 25
AGT 0 2 12 11 0 0 25
ANK3 0 0 22 3 0 0 25
CYP27A1 12 1 10 2 0 0 25
DUOX2 5 4 14 2 0 0 25
ETFDH 4 9 10 2 0 0 25
GANAB 2 2 12 9 0 0 25
GCDH 12 9 4 0 0 0 25
GPC3 0 0 11 14 0 0 25
LAMP2 0 0 21 3 1 0 25
LTBP2 0 1 22 0 2 0 25
MAGI2 0 0 19 5 1 0 25
OCA2 6 6 10 1 2 0 25
SLC12A2 0 0 7 16 2 0 25
SMAD4 2 1 20 2 0 0 25
SMPD1 9 5 9 1 1 0 25
TERT 0 1 15 7 2 0 25
VPS13A 4 5 7 7 2 0 25
ACSF3 3 8 11 2 0 0 24
BTD 9 7 8 0 0 0 24
CYP1B1 10 3 10 0 1 0 24
DNMT1 0 0 17 6 1 0 24
ERCC6 7 0 15 2 0 0 24
GNPTAB 5 1 13 5 0 0 24
GRIP1 0 0 15 7 2 0 24
HGSNAT 8 2 11 3 0 0 24
KIF1A 0 1 20 3 0 0 24
LOC126861896, MYH6 0 0 19 3 2 0 24
MC4R 6 4 13 0 1 0 24
MCCC1 6 8 9 0 1 0 24
MET 0 0 23 1 0 0 24
MRE11 0 0 24 0 0 0 24
NPHS2 9 3 6 6 0 0 24
OCRL 1 2 10 10 1 0 24
PCCB 11 2 9 2 0 0 24
PROS1 0 2 21 1 0 0 24
SZT2 0 1 15 8 0 0 24
THBD 0 0 22 2 0 0 24
ADAMTS2 0 1 17 4 1 0 23
BCS1L 3 7 8 5 0 0 23
COL6A3 0 0 12 9 2 0 23
DEPDC5 2 0 18 3 0 0 23
DIPK1A, RPL5 1 0 10 12 0 0 23
FH 1 4 13 5 0 0 23
HEXA 9 5 8 1 0 0 23
IFT172, KRTCAP3 2 1 14 6 0 0 23
IFT172, LOC126806173 0 1 15 7 0 0 23
NEB, RIF1 7 4 11 1 0 0 23
RMND1 2 1 12 7 1 0 23
ROBO2 0 0 6 16 1 0 23
ACADM 10 6 4 2 0 0 22
BCKDHA 6 6 7 3 0 0 22
BLK 0 0 8 12 2 0 22
COX10 0 2 15 5 0 0 22
ERCC2 5 2 10 5 0 0 22
KLF11 0 0 14 7 1 0 22
LOC107982234, WT1 0 0 19 3 0 0 22
PEX6 1 2 15 3 1 0 22
POMT1 4 2 15 1 0 0 22
PRKAG2 0 0 19 3 0 0 22
TNNI3 4 1 13 2 2 0 22
TPM1 0 0 16 5 1 0 22
A2ML1 0 0 13 6 2 0 21
CFHR5 0 0 10 9 2 0 21
COQ2 1 1 10 9 0 0 21
CTC1 2 4 13 1 1 0 21
DCTN1 0 0 14 6 1 0 21
DIS3L2 0 0 19 1 1 0 21
DNAH8 0 0 12 8 1 0 21
IFIH1 1 0 12 7 1 0 21
KCNK3 0 0 14 7 0 0 21
MECP2 5 0 5 10 1 0 21
MYL3 0 0 18 2 1 0 21
RAF1 3 0 13 4 1 0 21
SARS2 0 0 12 9 0 0 21
SCN1A 7 3 8 2 1 0 21
SCN1A, SCN9A 0 0 17 4 0 0 21
SCNN1A 1 4 9 5 2 0 21
SPG7 10 3 6 2 0 0 21
SPTAN1 0 0 6 11 4 0 21
ABCB11 5 3 9 2 1 0 20
ALK 0 0 16 4 0 0 20
BRCA1, LOC126862571 9 0 7 2 2 0 20
CAV3, OXTR 0 0 18 2 0 0 20
DCDC2 3 2 9 6 0 0 20
ERCC4 1 0 15 4 0 0 20
F11 11 5 3 1 0 0 20
GALNT3 5 1 10 4 0 0 20
LAMC3 0 2 11 6 1 0 20
PDSS1 0 0 14 6 0 0 20
PEX1 3 6 9 1 1 0 20
RARS2 3 9 7 1 0 0 20
RRM2B 0 3 9 8 0 0 20
SCN2A 3 0 12 5 0 0 20
SCNN1B 2 1 8 9 0 0 20
TGM1 9 5 5 1 0 0 20
USH1C 4 1 12 2 1 0 20
VWF 4 1 9 3 3 0 20
CLCN1 9 1 4 5 0 0 19
COL11A1 0 3 11 3 2 0 19
COL5A2 0 1 15 3 0 0 19
CYP2R1 1 0 10 8 0 0 19
GALT 9 3 3 2 2 0 19
GNE 7 5 5 2 0 0 19
IFT140, LOC126862260 0 1 12 6 0 0 19
KCNJ1 0 5 12 1 1 0 19
LDLRAP1 2 1 13 3 0 0 19
LOC107303340, VHL 2 0 13 4 0 0 19
MYOZ2 0 1 16 2 0 0 19
PHEX 4 0 1 14 0 0 19
PNKP 0 1 14 3 1 0 19
RAPSN 3 1 13 1 1 0 19
SH3TC2 5 3 10 1 0 0 19
SLC2A2 3 1 9 6 0 0 19
SLC6A20 0 0 18 1 0 0 19
TBX5 1 0 13 5 0 0 19
TG 2 1 15 1 0 0 19
TXNRD2 0 0 13 2 4 0 19
VDR 1 0 14 4 0 0 19
ANK2, LOC126807136 0 0 16 1 1 0 18
ASS1 9 3 6 0 0 0 18
AVPR2 0 4 4 10 0 0 18
CA2 1 0 8 8 1 0 18
CEL 0 0 4 12 2 0 18
CIITA 0 0 17 0 1 0 18
CNNM2 0 1 6 11 0 0 18
CYP27B1 0 3 7 7 1 0 18
DNAAF5 0 2 14 2 0 0 18
DPYD 3 5 9 0 1 0 18
EIF2AK3, LOC101928371 0 1 16 1 0 0 18
ELN 0 2 13 2 1 0 18
FGA 5 3 4 4 2 0 18
GLB1 10 4 4 0 0 0 18
KIF7 1 0 14 3 0 0 18
KMT2A 1 0 2 15 0 0 18
LRPPRC 0 2 10 5 1 0 18
LZTFL1 0 0 10 8 0 0 18
MPL 5 5 7 1 0 0 18
PROKR2 2 1 9 5 1 0 18
RAI1 0 0 6 11 1 0 18
RPE65 8 2 4 3 1 0 18
TGFBR1 1 0 16 1 0 0 18
TRIOBP 2 1 10 5 0 0 18
ACADS 5 3 7 0 2 0 17
ACAT1 4 7 2 2 2 0 17
ALDOB 5 2 10 0 0 0 17
ALG9 0 2 4 10 1 0 17
ANKRD11 3 0 4 9 1 0 17
BAP1 1 0 13 3 0 0 17
BRAT1 1 0 9 6 1 0 17
CLDN19 1 1 14 1 0 0 17
CNGB1 5 2 8 2 0 0 17
COA8 1 0 8 7 1 0 17
COL11A2 1 1 10 4 1 0 17
COL1A2 5 0 7 5 0 0 17
DNAI1 2 3 9 3 0 0 17
FLNB 0 0 10 7 0 0 17
GALNS 6 5 5 0 1 0 17
HEXB 11 2 2 1 1 0 17
IDUA 8 3 6 0 0 0 17
INSR 0 1 11 4 1 0 17
KCNA1 0 0 9 7 1 0 17
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 15 2 0 0 17
MTHFR 2 5 6 4 0 0 17
NR2E3 3 0 12 2 0 0 17
OTOG 0 2 10 4 1 0 17
PDSS2 0 1 7 9 0 0 17
RAD51D, RAD51L3-RFFL 5 2 9 1 0 0 17
SCO1 0 3 9 4 1 0 17
SERPINA1 4 3 9 0 1 0 17
SLC5A2 1 3 11 0 2 0 17
UNC13D 5 2 7 3 0 0 17
UNC80 0 1 9 7 0 0 17
XPC 6 0 8 3 0 0 17
APOL1 0 0 5 11 0 0 16
ASL 10 2 3 1 0 0 16
ATP1A2 1 0 12 3 0 0 16
ATP1A3 4 0 1 10 1 0 16
C17orf107, CHRNE 2 5 9 0 0 0 16
CACNA1D 0 0 10 5 1 0 16
CCDC39 4 3 7 2 0 0 16
CLCN5 2 3 5 5 1 0 16
COQ2, LOC112997540 0 2 12 1 1 0 16
DGKE 5 2 3 5 1 0 16
DMP1 0 2 11 2 1 0 16
DYNC2H1 0 1 8 6 1 0 16
EVC 5 2 5 2 2 0 16
FGF23 2 0 7 5 2 0 16
GAMT 3 3 10 0 0 0 16
GUCY2D 2 1 9 2 2 0 16
KCND3 0 0 11 5 0 0 16
KCNQ2 4 2 8 2 0 0 16
KCNQ3 1 0 8 6 1 0 16
KCNT1 1 0 8 7 0 0 16
LOC102724058, SCN1A 5 0 10 1 0 0 16
MCPH1 1 1 11 2 1 0 16
MFSD8 2 3 6 5 0 0 16
NAGLU 8 0 8 0 0 0 16
PAX4 0 0 7 9 0 0 16
PCCA 2 5 5 4 0 0 16
POMGNT1, TSPAN1 5 2 8 1 0 0 16
POMT2 2 1 12 1 0 0 16
SDHB 6 0 6 4 0 0 16
SERPINC1 2 2 10 1 1 0 16
SGCG 3 2 11 0 0 0 16
SLC25A4 0 0 15 1 0 0 16
SLC4A4 0 0 6 8 2 0 16
SYNE2 0 0 5 10 1 0 16
TBX20 0 0 15 1 0 0 16
WNT5A 0 0 9 7 0 0 16
XRCC4 0 3 7 6 0 0 16
ZFYVE26 1 3 10 2 0 0 16
ABCG8 1 0 11 2 1 0 15
AMT 1 6 8 0 0 0 15
APOA1 2 0 6 7 0 0 15
ATP6V0A2 1 0 13 1 0 0 15
BBIP1 0 0 13 2 0 0 15
BUB1B 0 0 13 2 0 0 15
C6 2 3 4 5 1 0 15
CDKN2A 3 2 8 2 0 0 15
CENPJ 1 3 8 3 0 0 15
CEP85L, PLN 0 0 15 0 0 0 15
CLN8 0 2 9 4 0 0 15
COQ6, ENTPD5 1 1 10 2 1 0 15
CRYAB 1 0 13 1 0 0 15
CYP21A2, LOC106780800 8 2 4 1 0 0 15
DNAAF1 0 2 9 4 0 0 15
DRC1 1 2 6 4 2 0 15
EHMT1 0 0 10 4 1 0 15
EMD 1 0 10 3 1 0 15
EYA4, TARID 0 0 10 5 0 0 15
FANCA, LOC112486223 2 2 8 3 0 0 15
FHL1 0 1 13 1 0 0 15
GCM2 0 1 8 6 0 0 15
HRAS, LRRC56 4 0 7 4 0 0 15
KCNE2, LOC105372791 0 0 14 1 0 0 15
KIT 0 0 12 3 0 0 15
MC1R 0 0 9 5 1 0 15
MHRT, MYH7 0 1 10 3 1 0 15
NIPBL 0 0 8 4 3 0 15
NSDHL 0 0 6 9 0 0 15
P3H1 2 1 10 2 0 0 15
PGK1 0 0 7 8 0 0 15
PRKAR1A 1 1 9 4 0 0 15
RP1L1 0 1 4 7 3 0 15
RPS26 0 0 3 11 1 0 15
SCN4B 0 0 13 1 1 0 15
STK11 0 1 8 6 0 0 15
XPNPEP3 0 1 7 7 0 0 15
ZEB2 1 0 6 7 1 0 15
APRT 2 3 6 3 0 0 14
ASAH1 0 2 9 2 1 0 14
CFAP418 0 1 11 2 0 0 14
CFTR, LOC111674472 7 0 7 0 0 0 14
CLN6 1 2 9 2 0 0 14
COL18A1, SLC19A1 1 0 7 6 0 0 14
COL9A1 1 0 10 3 0 0 14
COL9A3 0 1 6 7 0 0 14
CP 0 0 11 3 0 0 14
CYP11A1 3 2 6 3 0 0 14
DNAI2 1 2 11 0 0 0 14
ERCC3 0 7 5 1 1 0 14
EYA4 0 0 12 1 1 0 14
F8 6 2 4 1 1 0 14
FAM20A 1 0 5 7 1 0 14
GATA3 0 0 4 10 0 0 14
GBE1 3 0 7 4 0 0 14
GRIN2A 0 0 11 3 0 0 14
HPS5 1 2 9 1 1 0 14
HPSE2 4 0 2 8 0 0 14
HSD3B2 4 1 3 6 0 0 14
ITGA6, PDK1 0 0 5 6 3 0 14
LAMB3 9 1 4 0 0 0 14
LOC101927055, TTN 0 0 10 3 1 0 14
LOC126806423, TTN 1 1 10 1 1 0 14
LRBA 0 1 10 3 0 0 14
MED12 1 0 7 5 1 0 14
MKS1 1 5 8 0 0 0 14
MNX1 0 0 5 8 1 0 14
MYL2 1 1 11 1 0 0 14
NR0B1 1 0 5 6 2 0 14
PC 0 1 10 2 1 0 14
RAG1 3 2 8 1 0 0 14
RANBP2 1 0 4 9 0 0 14
RPS19 0 0 4 9 1 0 14
SIX5 0 0 5 9 0 0 14
SMAD3 1 0 13 0 0 0 14
SMAD9 1 1 8 4 0 0 14
SYNGAP1 4 0 5 5 0 0 14
TRAPPC9 1 0 11 1 1 0 14
WDR73 0 0 8 6 0 0 14
WWOX 2 0 10 1 1 0 14
ACTC1, GJD2-DT 1 0 9 3 0 0 13
ADCY10, DCAF6 0 0 7 5 1 0 13
AIPL1 1 2 5 0 5 0 13
AP3B1 0 1 9 3 0 0 13
ARID1B 3 0 5 5 0 0 13
ATRX 1 0 9 2 1 0 13
CCDC88C 0 0 4 9 0 0 13
CPT1A 1 1 9 2 0 0 13
EFHC1 0 0 11 2 0 0 13
FAN1, MTMR10 4 1 0 8 0 0 13
IFT172, LOC126806174 1 1 8 3 0 0 13
KLHL3 3 1 3 5 1 0 13
LOC126806424, TTN 0 0 9 4 0 0 13
MPI 2 2 7 2 0 0 13
PEX7 5 1 6 1 0 0 13
PLOD1 0 0 11 2 0 0 13
PRF1 2 2 9 0 0 0 13
RELN, SLC26A5 0 0 10 3 0 0 13
SCN2B 0 0 13 0 0 0 13
SCN3B 0 0 11 1 1 0 13
SETX 0 0 10 3 0 0 13
SKI 0 0 9 4 0 0 13
TBC1D24 0 1 8 3 1 0 13
TMPRSS3 4 2 5 0 2 0 13
TRMU 2 5 3 3 0 0 13
ABCD1 3 1 6 1 1 0 12
ADSL 5 0 6 1 0 0 12
AGA 3 4 4 1 0 0 12
ALG6 2 1 5 4 0 0 12
ANOS1 1 0 2 9 0 0 12
CHD2 2 0 6 4 0 0 12
CHD7, LOC126860403 0 0 10 2 0 0 12
CNGB3 5 2 5 0 0 0 12
COG5 0 1 7 2 2 0 12
COL6A1 1 1 5 5 0 0 12
DNAH9 0 1 1 9 1 0 12
EP300 1 0 4 6 1 0 12
FAH 7 3 2 0 0 0 12
FAM20A, PRKAR1A 2 0 5 5 0 0 12
FANCE, LOC129996245 0 0 10 2 0 0 12
G6PD 9 3 0 0 0 0 12
GAREM2, HADHA 3 1 6 1 1 0 12
ITPR1 0 0 1 9 2 0 12
KCNE3 0 0 10 0 2 0 12
KMT2C 0 0 4 8 0 0 12
LAMA3 2 1 9 0 0 0 12
LOC126806068, RYR2 0 0 12 0 0 0 12
LOC126806421, TTN 0 1 11 0 0 0 12
LOC126806422, TTN 0 0 9 3 0 0 12
LOC126806425, TTN 0 0 11 1 0 0 12
LOC126862902, RYR1 1 0 7 1 3 0 12
LPL 4 2 3 2 1 0 12
MAP2K2 1 0 7 4 0 0 12
MAPT 3 0 5 3 1 0 12
MCCC2 0 5 6 1 0 0 12
NBAS 0 2 7 3 0 0 12
NLRP12 0 0 6 4 2 0 12
NR3C2 2 0 4 4 2 0 12
OBSL1 0 0 6 4 2 0 12
PDX1 1 0 8 3 0 0 12
PIEZO1 0 0 2 10 0 0 12
PSEN2 0 0 9 3 0 0 12
RUNX1 0 2 7 2 1 0 12
SCN3A 0 0 7 4 1 0 12
SLC6A3 0 0 7 5 0 0 12
SOS2 0 0 8 4 0 0 12
WDR72 2 1 6 3 0 0 12
WHRN 1 0 10 1 0 0 12
ADA 3 2 6 0 0 0 11
AFG2A 0 3 6 2 0 0 11
ANO5 5 2 1 1 2 0 11
ASPA, SPATA22 3 5 1 1 1 0 11
ATR 0 0 7 4 0 0 11
C7 2 2 5 2 0 0 11
CD151 0 0 4 7 0 0 11
COL18A1 0 0 7 3 1 0 11
COL5A1, LOC101448202 1 0 4 3 3 0 11
CRB2 1 1 2 6 1 0 11
DLC1 0 0 3 6 2 0 11
DOK7 2 0 7 2 0 0 11
EXT2 3 1 4 3 0 0 11
FAT4 0 0 4 5 2 0 11
FOXI1 0 0 9 2 0 0 11
GUSB 2 2 5 2 0 0 11
HSD17B4 1 3 5 1 1 0 11
IVD 3 5 2 1 0 0 11
KIAA1549 0 0 3 8 0 0 11
LIFR 1 1 6 2 1 0 11
LOC110121288, SCN10A 0 0 7 3 1 0 11
LOC126806428, TTN 0 0 10 1 0 0 11
LOC126806432, TTN 0 0 10 1 0 0 11
LOC126861898, MYH7 1 4 6 0 0 0 11
LOC129930446, MMACHC 5 0 3 3 0 0 11
LOC129992813, PKD2 2 0 7 2 0 0 11
MBD5 0 0 10 1 0 0 11
MLC1 1 4 4 2 0 0 11
MTRR 4 1 3 2 1 0 11
NTRK1 1 0 9 1 0 0 11
OAT 2 3 4 1 1 0 11
PCBD1 2 1 5 3 0 0 11
PDE6A 2 2 7 0 0 0 11
POR 2 2 7 0 0 0 11
PRPF8 0 1 2 6 2 0 11
PTCH2 0 0 6 4 1 0 11
PTPRO 0 0 2 7 2 0 11
RB1 3 0 7 1 0 0 11
SCN8A 0 1 6 3 1 0 11
SCNN1G 0 0 5 6 0 0 11
SGCA 5 2 4 0 0 0 11
SLC26A2 4 4 1 2 0 0 11
SLC2A1 3 1 5 2 0 0 11
SLC39A4 0 5 2 3 1 0 11
SURF1 5 2 3 1 0 0 11
TJP2 0 1 8 1 1 0 11
TMEM70 2 0 6 2 1 0 11
TRPV4 1 0 8 2 0 0 11
TYMP 3 3 5 0 0 0 11
WNT10A 2 4 3 2 0 0 11
ABCA3 0 0 8 2 0 0 10
ABCC2 0 0 9 1 0 0 10
ACAD9 3 3 2 2 0 0 10
ACTA2 2 0 7 1 0 0 10
ADAR 1 0 6 2 1 0 10
APP 1 0 5 4 0 0 10
ATAD3A 0 0 4 6 0 0 10
ATP7A 0 0 4 4 2 0 10
BICC1 0 0 6 2 2 0 10
BMPR1A 0 0 10 0 0 0 10
C10orf105, CDH23 0 1 8 0 1 0 10
CAV1 0 0 4 5 1 0 10
CDKN1B 0 0 6 3 1 0 10
CFTR, LOC111674475 8 0 2 0 0 0 10
CHRNA4 0 0 6 3 1 0 10
CLDN16 0 3 4 1 2 0 10
CLN3 1 0 7 2 0 0 10
COL6A2 0 0 4 6 0 0 10
COL9A2 0 0 7 2 1 0 10
DCLRE1C 1 1 6 1 1 0 10
EPCAM 1 0 7 2 0 0 10
F9 1 2 1 5 1 0 10
FAM161A 3 2 5 0 0 0 10
FAN1 1 3 3 3 0 0 10
FXYD2, FXYD6-FXYD2 0 0 1 7 2 0 10
GDAP1 6 1 3 0 0 0 10
GFM1 1 2 3 3 1 0 10
GLI2 0 1 4 3 2 0 10
HFE 2 1 7 0 0 0 10
HLCS 3 1 5 1 0 0 10
HOXA13, LOC107126288 0 0 6 3 1 0 10
KRAS 1 0 3 6 0 0 10
LIG4 2 0 8 0 0 0 10
LOC100507346, PTCH1 0 0 8 2 0 0 10
LOC129390903, RAD51C 2 1 6 1 0 0 10
LZTR1 2 4 3 1 0 0 10
MAGEL2 1 0 6 3 0 0 10
MTO1 1 2 6 1 0 0 10
MTOR 0 0 5 5 0 0 10
MYH14 0 0 7 2 1 0 10
MYO3A 0 0 8 2 0 0 10
NF2 0 0 8 2 0 0 10
NGLY1 1 1 7 1 0 0 10
OTOGL 2 3 5 0 0 0 10
PDGFRA 0 0 10 0 0 0 10
PEX10 2 0 8 0 0 0 10
PEX12 4 0 4 1 1 0 10
PIGO 1 1 6 2 0 0 10
PRNP 1 1 3 4 1 0 10
PROM1 2 0 7 0 1 0 10
RIT1 5 1 4 0 0 0 10
RPGR 3 0 1 4 2 0 10
SELENON 3 2 4 1 0 0 10
SH3BP2 0 1 5 4 0 0 10
SHOC2 1 0 5 3 1 0 10
SIK1 0 0 5 5 0 0 10
SLC25A13 3 3 4 0 0 0 10
SLC36A2 0 0 0 9 1 0 10
SLC4A11 2 3 5 0 0 0 10
SPAG1 1 1 5 2 1 0 10
STIL 0 0 9 1 0 0 10
TACO1 1 0 4 5 0 0 10
TECPR2 1 0 8 1 0 0 10
TFAP2A 0 0 4 6 0 0 10
TFR2 0 1 7 2 0 0 10
TINF2 1 0 6 3 0 0 10
TPO 3 2 5 0 0 0 10
TSEN54 2 1 7 0 0 0 10
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 3 6 1 0 0 10
WDR62 1 0 7 1 1 0 10
AARS1 0 0 3 6 0 0 9
ADNP 2 0 2 5 0 0 9
AGTR1 0 1 6 2 0 0 9
ARSB 5 1 3 0 0 0 9
ATRIP, ATRIP-TREX1, TREX1 0 4 5 0 0 0 9
BIVM-ERCC5, ERCC5 0 1 5 2 1 0 9
CACNA1E 1 0 2 5 1 0 9
CARD11 0 0 7 2 0 0 9
CARD9 1 1 7 0 0 0 9
CD46 1 1 3 4 0 0 9
CEP290, RLIG1 2 6 1 0 0 0 9
CLN5 3 0 6 0 0 0 9
CLRN1 5 1 3 0 0 0 9
COQ8A 1 0 2 4 2 0 9
COX20 0 1 7 2 0 0 9
CTNNA1 0 0 4 5 0 0 9
CTNNA3 0 0 8 1 0 0 9
CUL3 0 0 3 5 1 0 9
DIAPH1 0 0 4 3 2 0 9
DOCK7 0 1 6 2 0 0 9
EIF2B5 5 1 2 1 0 0 9
F7 3 4 1 1 0 0 9
FAM20C 0 0 2 6 1 0 9
FBXO7 0 0 6 3 0 0 9
GATA2 0 0 8 1 0 0 9
GDF2 0 0 3 5 1 0 9
GRM1 0 0 2 7 0 0 9
HBB, LOC107133510, LOC110006319 4 0 4 1 0 0 9
HMGCL 3 1 5 0 0 0 9
HSD11B2 1 1 3 4 0 0 9
ITGB2 0 1 6 2 0 0 9
LOC126806431, TTN 0 0 9 0 0 0 9
MFN2 3 0 1 4 1 0 9
MYO6 1 0 4 0 4 0 9
NOD2 0 0 6 3 0 0 9
OTC 2 2 3 1 1 0 9
PARK7 1 2 3 3 0 0 9
PCDH19 2 0 1 4 2 0 9
PRKDC 0 0 5 3 1 0 9
PROP1 5 0 3 0 1 0 9
REN 2 0 4 3 0 0 9
RNASEH2B 1 3 2 2 1 0 9
RPS10, RPS10-NUDT3 0 0 2 7 0 0 9
RPS24 0 0 2 5 2 0 9
RPS7 0 0 3 6 0 0 9
SDHD 2 1 5 1 0 0 9
SEPSECS 1 5 3 0 0 0 9
SLC17A5 3 1 4 1 0 0 9
SLC2A10 0 1 6 2 0 0 9
SLC45A2 1 0 6 0 2 0 9
SLC52A3 0 0 3 2 4 0 9
SMARCA2 0 1 1 5 2 0 9
SNCA 1 0 2 5 1 0 9
SUFU 0 0 8 0 1 0 9
TBCEL-TECTA, TECTA 0 1 8 0 0 0 9
TBX1 0 0 7 2 0 0 9
TNNC1 0 1 8 0 0 0 9
TRNT1 0 2 6 1 0 0 9
TUBGCP6 0 0 5 4 0 0 9
UCP3 0 0 5 4 0 0 9
XPA 4 1 3 1 0 0 9
ABCG5, DYNC2LI1 1 0 6 1 0 0 8
AGRN 0 0 5 3 0 0 8
ALG2 0 0 4 3 1 0 8
ALS2 2 1 2 3 0 0 8
ANLN 0 0 4 3 1 0 8
ARL13B 0 0 7 1 0 0 8
AXDND1, NPHS2 4 2 1 1 0 0 8
BCKDHB 3 1 3 1 0 0 8
CARS2 0 0 6 2 0 0 8
CEBPA 0 0 8 0 0 0 8
CEP152 2 0 6 0 0 0 8
CERKL 2 2 4 0 0 0 8
CHRNA2 0 0 8 0 0 0 8
CHRNB2 0 0 3 5 0 0 8
CLASP1, RNU4ATAC 4 2 1 1 0 0 8
COL4A2 0 0 2 6 0 0 8
CPT2, LOC129930561 2 1 2 3 0 0 8
CTSD 0 0 3 5 0 0 8
CTSK 2 2 4 0 0 0 8
CYP11B1 1 2 1 4 0 0 8
DOCK6 0 1 2 5 0 0 8
ELAC2 0 0 5 1 2 0 8
ENG, LOC102723566 0 3 4 1 0 0 8
FANCI, POLG, POLGARF 0 0 6 0 2 0 8
FIG4 1 0 2 5 0 0 8
GALNT12 0 0 7 1 0 0 8
GATA6 0 0 5 3 0 0 8
GATAD1 0 0 7 0 1 0 8
GATAD1, PEX1 0 2 6 0 0 0 8
HADHA 2 3 2 1 0 0 8
HNF1B, LOC126862549 1 1 3 3 0 0 8
HUWE1 1 0 1 6 0 0 8
IGHMBP2 1 1 4 2 0 0 8
ITGA6 1 1 2 3 1 0 8
LAMA1 0 0 2 6 0 0 8
LCAT 2 1 3 2 0 0 8
LDHA 0 0 2 6 0 0 8
LIPA 4 0 4 0 0 0 8
LOC106780803, TNXB 0 0 0 7 1 0 8
MAFB 0 0 6 2 0 0 8
MED13L 0 0 1 6 1 0 8
MED17 0 3 1 4 0 0 8
MEN1 0 0 5 1 2 0 8
MITF 0 1 7 0 0 0 8
MMAA 2 1 5 0 0 0 8
MOCS1 0 1 5 1 1 0 8
MOGS 1 0 5 2 0 0 8
MTTP 1 2 4 0 1 0 8
MVP-DT, PRRT2 2 0 2 4 0 0 8
NCAPH2, SCO2 0 0 8 0 0 0 8
NDUFS1 1 0 4 2 1 0 8
NLRP1 0 0 4 4 0 0 8
NOC3L, PLCE1 1 0 3 4 0 0 8
NTHL1 0 2 5 1 0 0 8
NTRK2 0 0 1 7 0 0 8
ODAD1 1 1 5 0 1 0 8
PDZD7 0 1 5 1 1 0 8
PIGV 1 0 4 2 1 0 8
PPT1 3 1 4 0 0 0 8
PREPL, SLC3A1 1 1 5 1 0 0 8
PRPS1 0 0 2 6 0 0 8
PYGL 0 0 6 0 2 0 8
RERE 0 0 1 6 1 0 8
RNASEH2A 0 1 7 0 0 0 8
SERAC1 0 0 1 7 0 0 8
SETBP1 1 0 1 5 1 0 8
SKIC3 1 2 2 3 0 0 8
STXBP1 5 0 0 3 0 0 8
TCF3 0 0 3 5 0 0 8
ADCY5 0 0 2 5 0 0 7
ALDH5A1 3 1 2 1 0 0 7
ALDH7A1 2 1 2 2 0 0 7
ALG1, EEF2KMT 0 0 5 2 0 0 7
AP2S1 1 0 1 5 0 0 7
APOB, LOC106560211 0 0 5 2 0 0 7
APOE 0 1 3 3 0 0 7
AQP2 1 4 1 1 0 0 7
AR, LOC109504725 0 0 2 4 1 0 7
ARSB, LOC129994126 1 1 3 1 1 0 7
ARX 1 1 4 1 0 0 7
ASXL1 0 1 0 6 0 0 7
ATIC, FN1 0 0 4 3 0 0 7
BEST1 3 0 1 1 2 0 7
BMP4 0 0 5 2 0 0 7
CC2D1A 0 0 5 1 1 0 7
CCDC39, TTC14 0 1 5 1 0 0 7
CCNH, RASA1 5 0 1 1 0 0 7
CETP 0 0 3 2 2 0 7
CFAP418, LOC130000784 1 0 5 1 0 0 7
CHD8 0 1 3 3 0 0 7
CNGA1, LOC101927157 1 3 3 0 0 0 7
COG7 0 0 3 3 1 0 7
COL4A3, LOC129935730 1 0 3 3 0 0 7
CTSC 1 1 4 0 1 0 7
DBT 3 1 1 2 0 0 7
DNA2 0 0 0 5 2 0 7
EDA 3 2 1 0 1 0 7
EDNRA 0 0 0 6 1 0 7
ESPN 0 0 3 4 0 0 7
EXOSC3 2 3 2 0 0 0 7
EYS, PHF3 1 4 2 0 0 0 7
FANCA, LOC132090450 1 0 3 3 0 0 7
FANCM, LOC130055524 0 0 5 2 0 0 7
FBN1, LOC126862124 0 0 7 0 0 0 7
FOXP2 0 1 2 3 1 0 7
GALE 0 4 3 0 0 0 7
GATA4 0 0 6 1 0 0 7
GJB1 3 0 2 2 0 0 7
GJB6 2 0 3 1 1 0 7
GNRHR 3 1 3 0 0 0 7
GRIN2B 0 0 4 3 0 0 7
GYG1 1 1 2 2 1 0 7
GYS2 5 0 0 2 0 0 7
HAX1 2 2 3 0 0 0 7
HBA2, LOC106804612 5 1 1 0 0 0 7
HCFC1 0 0 4 3 0 0 7
HEPACAM 0 0 5 2 0 0 7
HOXB13 0 0 7 0 0 0 7
HPRT1 0 1 3 2 1 0 7
IL7R 2 0 3 1 1 0 7
IRF7 0 0 5 2 0 0 7
ITGA7 0 0 4 3 0 0 7
JAK3 1 0 3 2 1 0 7
KANK2 0 0 4 3 0 0 7
KCNMA1 0 0 5 2 0 0 7
KDM6A 1 0 3 2 1 0 7
KRT16 3 2 1 1 0 0 7
LMF1 0 0 2 4 1 0 7
LMNA, LOC126805877 0 0 6 1 0 0 7
LOC126806067, RYR2 0 0 7 0 0 0 7
LOC126806433, TTN 0 0 7 0 0 0 7
LOC126863137, MYH9 0 0 2 4 1 0 7
LOC129391106, RYR1 0 0 4 3 0 0 7
LPIN2 0 1 6 0 0 0 7
MACF1 0 0 1 6 0 0 7
MANBA 1 2 4 0 0 0 7
MAP2K1 1 1 2 3 0 0 7
MLH3 0 0 5 2 0 0 7
MRTFA 0 0 5 2 0 0 7
MTR 0 0 4 3 0 0 7
MYCN 0 0 3 4 0 0 7
NALCN 1 1 1 4 0 0 7
NDUFAF5 0 1 4 2 0 0 7
PCARE 0 0 4 3 0 0 7
PCLO 0 0 3 4 0 0 7
PDE6B 3 1 1 2 0 0 7
PEX14 0 0 4 3 0 0 7
PHKA2 0 0 2 4 1 0 7
POLR3B 1 1 1 1 3 0 7
PRKG1 0 0 5 1 1 0 7
PTPRC 0 0 3 2 2 0 7
RAG2 1 3 3 0 0 0 7
RIN2 0 0 2 4 1 0 7
RNF213 0 0 0 6 1 0 7
RPL11 0 0 3 3 1 0 7
SAMD9 0 0 2 5 0 0 7
SAMD9L 0 0 2 5 0 0 7
SAMHD1 1 3 2 1 0 0 7
SBF1 0 0 6 1 0 0 7
SCN9A 0 0 6 1 0 0 7
SLC12A6 1 1 3 2 0 0 7
SLC25A15 1 2 3 1 0 0 7
SLC6A1 1 0 3 3 0 0 7
SPAST 0 3 1 3 0 0 7
SPTA1 1 0 0 4 2 0 7
STXBP2 2 0 2 2 1 0 7
TREM2 0 0 5 2 0 0 7
TTPA 3 1 2 1 0 0 7
VPS35 1 0 4 2 0 0 7
VRK1 1 2 3 1 0 0 7
ZNF423 0 0 4 3 0 0 7
ABAT 0 0 3 3 0 0 6
ADGRG1 1 1 3 0 1 0 6
AIFM1, RAB33A 0 0 2 3 1 0 6
ALDH3A2 2 1 2 1 0 0 6
ALG1, LOC130058384 0 0 5 1 0 0 6
AQP2, AQP5 1 2 0 2 1 0 6
ARL6 0 0 4 2 0 0 6
ASNS, CZ1P-ASNS 0 4 2 0 0 0 6
ASXL3 0 0 1 5 0 0 6
ATP8B1 0 0 3 2 1 0 6
AUH 1 0 4 1 0 0 6
AUTS2 0 0 1 5 0 0 6
AVP 2 0 0 4 0 0 6
B2M 0 1 2 3 0 0 6
BCHE 3 0 3 0 0 0 6
C2, CFB 0 0 0 3 3 0 6
C8B 1 1 3 1 0 0 6
C9 0 3 2 1 0 0 6
CACNA1B 0 0 0 3 3 0 6
CAMTA1 0 1 0 4 1 0 6
CDK13 2 0 0 4 0 0 6
CENPF 2 0 3 1 0 0 6
CFHR3 0 0 1 3 2 0 6
CHRNE 1 2 2 1 0 0 6
CHST6 2 2 2 0 0 0 6
CLCN5, LOC126863258 1 0 5 0 0 0 6
CNTN2 0 0 3 2 1 0 6
COG6 1 0 1 4 0 0 6
COL27A1 1 2 0 2 1 0 6
COX6B1 0 0 3 3 0 0 6
CR2 0 0 4 2 0 0 6
CSF1R 1 0 1 1 3 0 6
CUL7 1 0 3 2 0 0 6
CYBB 1 0 3 2 0 0 6
DARS2 2 1 0 3 0 0 6
DLD 2 0 2 2 0 0 6
DM1, LOC107075317, SIX5 0 0 0 6 0 0 6
DNAAF2 0 0 4 2 0 0 6
DOCK8 0 0 5 1 0 0 6
DSC2, DSCAS 0 1 4 1 0 0 6
EMC1 0 1 1 4 0 0 6
EPG5 1 0 3 2 0 0 6
ERCC8 3 1 1 1 0 0 6
ETFA 1 1 3 1 0 0 6
F5 0 0 1 4 1 0 6
FN1, LOC126806496 0 0 3 3 0 0 6
FN1, LOC126806498 0 0 1 5 0 0 6
FTCD 1 0 5 0 0 0 6
GATA1 0 1 3 2 0 0 6
GCKR 0 0 6 0 0 0 6
GDNF 0 0 1 4 1 0 6
GFAP 0 0 5 1 0 0 6
GFI1 0 0 2 3 1 0 6
GNPTG 0 3 2 1 0 0 6
GNS 0 0 4 2 0 0 6
HBA1, LOC106804613 5 1 0 0 0 0 6
HCN4, LOC105370890, LOC126862173 0 0 6 0 0 0 6
HIVEP2 0 0 0 6 0 0 6
HNRNPU 0 0 4 2 0 0 6
HPS3 3 1 2 0 0 0 6
IQSEC2 0 0 3 2 1 0 6
KCNB1 1 1 0 3 1 0 6
KCNC3 1 0 2 3 0 0 6
KIRREL2, NPHS1 1 0 2 2 1 0 6
KLLN, PTEN 0 0 6 0 0 0 6
KRT14 0 0 0 1 5 0 6
KRT6A 3 2 0 1 0 0 6
LCA5 2 0 4 0 0 0 6
LHX3 0 0 4 2 0 0 6
LOC114827827, NPPA 0 0 4 2 0 0 6
LOC126806420, TTN 0 0 5 1 0 0 6
LOC126859690, PKHD1 1 1 3 1 0 0 6
LOC126862361, SLC12A3 2 1 2 1 0 0 6
LOC129994526, SLC12A2 0 0 4 2 0 0 6
LOC130065680, SNTA1 0 0 6 0 0 0 6
LTBP4 0 0 5 1 0 0 6
LURAP1L, TYRP1 2 1 2 1 0 0 6
MCOLN1 4 1 0 1 0 0 6
MPV17 1 3 1 1 0 0 6
MYH2, MYHAS 0 0 1 5 0 0 6
MYO5B 0 0 2 3 1 0 6
NCF4 0 0 5 1 0 0 6
NEXMIF 1 0 4 1 0 0 6
ODAD2 0 0 2 2 2 0 6
OPHN1 0 0 2 4 0 0 6
PEX19 0 0 3 3 0 0 6
PHEX, PTCHD1 2 1 2 1 0 0 6
PIK3CD 0 0 3 2 1 0 6
PKLR 2 1 3 0 0 0 6
PLCB1 0 0 5 1 0 0 6
PMP22 0 0 4 1 1 0 6
POGZ 2 0 0 4 0 0 6
PRX 0 0 2 2 2 0 6
PSAP 0 1 4 0 1 0 6
PSEN1 2 2 2 0 0 0 6
RBBP8 0 0 5 1 0 0 6
RP1 0 1 2 3 0 0 6
RPGRIP1 2 0 3 1 0 0 6
RPL26 0 0 1 4 1 0 6
RSPH4A 4 0 2 0 0 0 6
RTTN 0 0 0 6 0 0 6
SATB2 2 0 2 2 0 0 6
SDHC 1 0 4 1 0 0 6
SETD2 0 0 4 2 0 0 6
SGCB 2 0 4 0 0 0 6
SIX1 1 0 0 5 0 0 6
SLC16A12 0 0 5 1 0 0 6
SLC17A8 0 0 2 2 2 0 6
SLC19A3 1 2 1 2 0 0 6
SLC35C1 0 0 6 0 0 0 6
SNRNP200 0 0 1 5 0 0 6
SPTBN2 0 0 5 1 0 0 6
SPTLC1 0 1 4 1 0 0 6
SUMF1 3 1 2 0 0 0 6
TAF1 0 0 0 5 1 0 6
TMEM127 0 0 3 3 0 0 6
TMEM216 2 3 1 0 0 0 6
TNFRSF13B 0 1 5 0 0 0 6
TPP2 0 0 5 1 0 0 6
UPB1 2 0 3 1 0 0 6
USH1G 0 2 3 0 1 0 6
ZMPSTE24 1 1 2 2 0 0 6
AAAS 3 0 2 0 0 0 5
ABCA1 0 0 0 3 2 0 5
ABCA12 0 2 2 1 0 0 5
ABCC8, LOC110121471 0 0 0 4 1 0 5
ABCD4 0 0 4 1 0 0 5
ABHD14A-ACY1, ACY1 1 1 3 0 0 0 5
ABL1 0 0 0 5 0 0 5
ACADSB 0 1 4 0 0 0 5
ACAN 0 0 2 2 1 0 5
ACO2 0 0 2 3 0 0 5
ACTG1 0 0 0 4 1 0 5
AIP 0 0 4 1 0 0 5
ALDH4A1 0 1 4 0 0 0 5
ALDH6A1, BBOF1 0 0 0 5 0 0 5
AMACR, C1QTNF3-AMACR 0 0 4 1 0 0 5
AMN, LOC130056554 0 0 4 1 0 0 5
ANKS6, LOC124310614 0 0 3 2 0 0 5
AP3D1 0 0 3 2 0 0 5
AP4E1 0 0 4 1 0 0 5
AP4M1 0 0 2 3 0 0 5
AR 1 0 2 2 0 0 5
ARG1, MED23 1 3 0 1 0 0 5
ASIC4, GMPPA 0 1 0 4 0 0 5
ATIC 0 0 0 5 0 0 5
ATL1 0 0 1 3 1 0 5
C1QTNF5, MFRP 2 1 1 1 0 0 5
CARD14 0 0 3 2 0 0 5
CARMIL2 0 0 1 4 0 0 5
CCDC65 0 0 2 3 0 0 5
CDKL5, RS1 4 0 1 0 0 0 5
CHRND 0 0 4 1 0 0 5
CHSY1 0 0 3 2 0 0 5
CIB2 0 2 2 1 0 0 5
CLCNKB 2 0 2 1 0 0 5
CNGA3 3 0 2 0 0 0 5
COL4A6 0 0 0 2 3 0 5
COPA 0 0 2 3 0 0 5
CP, HPS3 2 1 1 1 0 0 5
CSGALNACT1 0 0 0 5 0 0 5
CYB5R3 2 1 2 0 0 0 5
CYBA 2 1 2 0 0 0 5
DHDDS 1 1 3 0 0 0 5
DHX38 0 0 4 1 0 0 5
DMXL2 0 0 2 2 1 0 5
DNAAF3 2 0 3 0 0 0 5
DNM2 1 0 2 1 1 0 5
EEF1A2 0 2 1 2 0 0 5
EFEMP2 0 0 4 1 0 0 5
ELANE 0 1 4 0 0 0 5
ENO3 0 0 1 4 0 0 5
ETHE1 2 1 2 0 0 0 5
FANCD2 0 2 2 1 0 0 5
FASN 0 0 5 0 0 0 5
FBXL4 1 3 1 0 0 0 5
FKBP10 0 0 2 1 2 0 5
FLG 1 3 0 1 0 0 5
FSCN2 0 0 2 2 1 0 5
GAN 0 1 3 1 0 0 5
GCH1 0 0 5 0 0 0 5
GJB3 0 0 2 3 0 0 5
GLRA1 1 1 3 0 0 0 5
GNAO1 2 1 2 0 0 0 5
GNPAT 0 0 3 1 1 0 5
GPHN 0 0 3 2 0 0 5
GPHN, RDH12 3 1 1 0 0 0 5
GPHN, RDH12, ZFYVE26 1 1 3 0 0 0 5
GPR179 0 0 3 2 0 0 5
GPSM2 3 0 2 0 0 0 5
HDAC4 0 0 2 3 0 0 5
HECW2 0 0 2 3 0 0 5
HERC1 0 0 0 5 0 0 5
HERC2 0 0 3 2 0 0 5
HMCN1 0 0 1 4 0 0 5
HOXD13 2 0 3 0 0 0 5
HPD 0 0 1 3 1 0 5
HPS6 0 0 4 1 0 0 5
HSALR1, PIEZO1 0 0 0 4 1 0 5
IGF1R 0 0 2 2 1 0 5
ILDR1 0 1 3 0 1 0 5
INS, INS-IGF2 0 1 1 3 0 0 5
IQCG, RPL35A 0 0 2 3 0 0 5
KCNH1 1 0 0 3 1 0 5
KIF11 1 0 1 2 1 0 5
KRT10 1 0 1 2 1 0 5
L1CAM 0 0 3 2 0 0 5
LCT 1 0 2 1 1 0 5
LDLRAP1, LOC129929773 2 1 2 0 0 0 5
LIG1 0 0 4 1 0 0 5
LMBRD1 1 0 1 3 0 0 5
LMNA, LOC129931597 0 0 3 1 1 0 5
LOC107075317, SIX5 0 0 1 4 0 0 5
LOC121740638, TFAP2A 0 0 0 5 0 0 5
LOC126805765, NEXN 0 0 5 0 0 0 5
LOC126806791, MYLK 0 0 4 0 1 0 5
LOC126861615, PAH 5 0 0 0 0 0 5
LOC129933535, SOS1 0 0 4 1 0 0 5
LOC129935183, TTN 0 0 5 0 0 0 5
LOC130004273, PTEN 0 0 4 1 0 0 5
MAN1B1 0 0 4 1 0 0 5
MARVELD2 0 0 5 0 0 0 5
MAT1A 2 0 3 0 0 0 5
MERTK 0 1 2 2 0 0 5
MIB1 0 0 4 1 0 0 5
MMADHC 0 0 4 1 0 0 5
MUC5B 0 0 2 2 1 0 5
MYH3 0 1 1 2 1 0 5
MYLK2 0 0 5 0 0 0 5
MYO18B 0 0 3 2 0 0 5
NEK1 1 1 2 1 0 0 5
NHERF1 0 0 4 1 0 0 5
NLRC4 0 0 4 1 0 0 5
NPC2 1 0 4 0 0 0 5
NUP93 0 0 3 1 1 0 5
ODAD3 0 0 5 0 0 0 5
OPA3 1 0 3 1 0 0 5
PET100, STXBP2 1 0 3 1 0 0 5
PEX26 0 0 4 1 0 0 5
PHOX2B 0 0 4 1 0 0 5
PHYH 1 1 1 2 0 0 5
PIBF1 0 0 0 4 1 0 5
PIEZO2 0 0 1 4 0 0 5
PIK3CA 2 0 3 0 0 0 5
PITPNM3 0 0 1 4 0 0 5
PKD1L1 0 0 0 2 3 0 5
PLK4 0 0 3 2 0 0 5
POLA1 0 0 1 4 0 0 5
POLR2F, SOX10 0 1 3 1 0 0 5
POMC 1 0 4 0 0 0 5
PRICKLE1 0 0 3 2 0 0 5
PRKRA 0 0 3 1 1 0 5
PRSS1, TRB 2 0 3 0 0 0 5
QARS1 0 0 5 0 0 0 5
RAD21 0 0 1 3 1 0 5
RNASEH2C 1 0 3 1 0 0 5
RPL5 0 0 0 5 0 0 5
RUNX2 2 0 1 1 1 0 5
SBF2 0 0 4 0 1 0 5
SDHAF2 0 0 3 2 0 0 5
SETD5 0 0 3 2 0 0 5
SKIC2 1 0 0 4 0 0 5
SLC12A5 0 0 5 0 0 0 5
SLC13A5 1 1 3 0 0 0 5
SLC1A3 0 0 1 4 0 0 5
SLC25A20 2 1 2 0 0 0 5
SLC29A3 0 1 3 1 0 0 5
SLC52A2 0 0 5 0 0 0 5
SLC6A8 0 0 1 4 0 0 5
SOX17 0 0 0 4 1 0 5
SPINK5 1 0 2 2 0 0 5
STIM1 0 0 4 1 0 0 5
STX11 0 0 3 2 0 0 5
STX16, STX16-NPEPL1 0 0 1 4 0 0 5
TAP1 0 0 0 5 0 0 5
TRIP11 0 0 3 2 0 0 5
TRPM1 0 1 2 1 1 0 5
TSEN2 0 0 4 0 1 0 5
UCP2 0 0 2 3 0 0 5
VLDLR 0 0 3 2 0 0 5
WDR81 0 1 1 3 0 0 5
WNT4 0 0 1 3 1 0 5
WRAP53 0 0 4 1 0 0 5
ZSWIM6 0 0 2 3 0 0 5
ABCB4 1 0 3 0 0 0 4
ACAD9, CFAP92 0 1 2 1 0 0 4
ACTG2 3 1 0 0 0 0 4
AFF4 0 0 1 2 1 0 4
ALDH18A1 0 0 2 1 1 0 4
ALG1, LOC130058383 0 0 3 1 0 0 4
AMH 0 0 3 1 0 0 4
AMPD3 0 0 1 3 0 0 4
ANK1 1 0 0 3 0 0 4
APOB, APOB3'MAR 0 0 4 0 0 0 4
ARFGEF1-DT, CPA6 0 0 3 1 0 0 4
ARID1A 0 0 1 3 0 0 4
BCOR 0 0 1 3 0 0 4
BCORL1 0 0 2 2 0 0 4
BIN1 0 0 3 1 0 0 4
BRWD3 0 0 0 4 0 0 4
BTK 1 0 1 2 0 0 4
C1S 0 0 2 2 0 0 4
C2 1 0 1 2 0 0 4
CACNA1A, LOC108663985 0 0 0 2 2 0 4
CAMK2B 0 0 0 4 0 0 4
CARD14, SGSH 0 0 1 2 1 0 4
CAST, LOC101929710, PCSK1 0 0 3 1 0 0 4
CCDC103 1 0 3 0 0 0 4
CCDST, FLG 2 1 0 1 0 0 4
CDH15 0 0 1 3 0 0 4
CDKL5 1 0 2 1 0 0 4
CEACAM16 0 0 2 2 0 0 4
CEP41 0 0 4 0 0 0 4
CEP57 0 0 4 0 0 0 4
CEP78 0 0 2 1 1 0 4
CFB 0 0 2 2 0 0 4
CHRNA3 0 1 0 3 0 0 4
CHRNG 2 1 1 0 0 0 4
CISD2, SLC9B1 0 0 1 3 0 0 4
CLCN4 0 0 1 3 0 0 4
COL4A1, LOC126861856 0 0 2 2 0 0 4
COMP 2 0 0 0 2 0 4
COQ9 0 0 1 3 0 0 4
COX14 0 0 2 2 0 0 4
CRYM 0 0 2 1 1 0 4
CSF3R 0 2 1 1 0 0 4
CSPP1 2 0 2 0 0 0 4
CTSA 0 0 1 3 0 0 4
CUX2 0 0 0 4 0 0 4
CXCR4 2 1 1 0 0 0 4
CYFIP2, NIPAL4-DT 0 0 1 3 0 0 4
DCC 0 0 0 3 1 0 4
DDX3X 0 1 0 3 0 0 4
DEAF1 0 0 3 1 0 0 4
DHCR24 0 1 2 1 0 0 4
DNAAF4, DNAAF4-CCPG1 1 1 2 0 0 0 4
DNAH11, LOC126859961 0 1 1 2 0 0 4
DNAJC21 0 0 3 1 0 0 4
DNM1L 0 1 1 2 0 0 4
DPP6 0 0 2 0 2 0 4
DST 0 0 0 4 0 0 4
DTNA 0 0 3 0 1 0 4
DVL1 0 0 2 2 0 0 4
EARS2 1 2 0 1 0 0 4
EBP 0 0 2 2 0 0 4
ECHS1 2 0 1 1 0 0 4
EIF4G1 0 0 1 3 0 0 4
EPS8 0 0 2 2 0 0 4
ERCC6L2 1 0 1 2 0 0 4
EVC2, LOC126806961 2 0 2 0 0 0 4
EXT1 2 0 1 1 0 0 4
EXTL3 0 0 2 2 0 0 4
FANCF, LOC130005443 0 0 4 0 0 0 4
FCN3 0 0 2 2 0 0 4
FN1, LOC126806497 0 0 1 2 1 0 4
FOXC2 0 0 2 2 0 0 4
FUS 0 0 1 2 1 0 4
GABRD 0 0 2 2 0 0 4
GAMT, LOC130062945 1 0 3 0 0 0 4
GAS8 0 0 3 1 0 0 4
GBA1 2 0 2 0 0 0 4
GIPC3 0 0 1 3 0 0 4
HADH 0 0 3 1 0 0 4
HK1 0 1 1 1 1 0 4
HPGD 0 0 2 1 1 0 4
HPS4 0 0 4 0 0 0 4
HSD3B2, LOC109029530 1 1 0 2 0 0 4
HTRA2 0 0 1 2 1 0 4
IL10RA 0 0 2 2 0 0 4
IL36RN 0 0 3 1 0 0 4
INPP5E 0 0 2 2 0 0 4
INSL6, JAK2 1 0 1 1 1 0 4
IRF2BPL 0 0 1 1 2 0 4
IYD 0 3 0 0 1 0 4
KANK1, LOC126860554 0 0 4 0 0 0 4
KAT6A 0 0 0 4 0 0 4
KCNQ1, KCNQ1OT1 0 0 2 2 0 0 4
KCNV2 0 0 3 1 0 0 4
KDM5C 1 0 0 3 0 0 4
KIDINS220 0 0 0 4 0 0 4
KIF1B 0 0 2 2 0 0 4
KIF22 1 0 0 3 0 0 4
KIF5A 0 0 2 2 0 0 4
KMT2B 0 0 0 4 0 0 4
KRT17 1 2 0 1 0 0 4
KRT6B 2 1 0 1 0 0 4
KRT81, KRT86 0 0 0 3 1 0 4
LBR 0 0 2 2 0 0 4
LEPR 0 0 1 1 2 0 4
LGI1 0 1 3 0 0 0 4
LHCGR, STON1-GTF2A1L 1 1 1 0 1 0 4
LHFPL5 0 0 4 0 0 0 4
LIX1L, LOC126805851, RBM8A 2 0 0 2 0 0 4
LOC110806306, TERC 0 0 2 2 0 0 4
LOC111811965, MIR4733HG, NF1 0 0 3 1 0 0 4
LOC126806426, TTN 0 0 3 1 0 0 4
LOC126806427, TTN 0 0 3 1 0 0 4
LOC126806429, TTN 0 0 4 0 0 0 4
LOC126806430, TTN 0 0 3 1 0 0 4
LOC126861242, NDUFV1 1 1 2 0 0 0 4
LOC126861897, MYH7 0 0 3 1 0 0 4
LOC126862568, WNK4 0 0 2 2 0 0 4
LOC129999736, MNX1 0 0 2 2 0 0 4
LOC130008987, ORAI1 0 0 2 2 0 0 4
LOC130009266, POLE 0 0 4 0 0 0 4
LOC130064357, RYR1 0 0 4 0 0 0 4
LOC130064387, SARS2 0 1 2 1 0 0 4
LRRC56 0 0 0 3 1 0 4
LTBP3 0 0 1 2 1 0 4
LYZ 0 0 3 1 0 0 4
MAPKBP1 0 0 1 2 1 0 4
MASP1 0 0 2 2 0 0 4
MC2R 1 0 1 2 0 0 4
MGAT2 0 0 4 0 0 0 4
MOCS2 0 1 3 0 0 0 4
MORC2 0 0 0 4 0 0 4
MPZ 2 1 1 0 0 0 4
MSH3 0 0 2 2 0 0 4
MYOC 0 0 0 4 0 0 4
MYOT, PKD2L2-DT 1 0 2 1 0 0 4
NDE1 0 0 4 0 0 0 4
NDST1 0 0 3 1 0 0 4
NHS 0 0 2 1 1 0 4
NR3C1 0 0 1 3 0 0 4
NSUN2 0 1 1 2 0 0 4
OPA1 1 0 3 0 0 0 4
OTOA 0 0 4 0 0 0 4
PACS1 1 0 1 2 0 0 4
PEPD 2 0 1 1 0 0 4
PEX13 0 0 4 0 0 0 4
PEX16 0 0 3 1 0 0 4
PEX2 2 0 2 0 0 0 4
PEX5 0 1 2 0 1 0 4
PFKM 1 1 2 0 0 0 4
PHGDH 1 1 2 0 0 0 4
PHKB 1 0 2 1 0 0 4
PIK3R1 2 0 2 0 0 0 4
PNP 3 0 0 0 1 0 4
POLR1C 1 2 1 0 0 0 4
POMGNT1 0 0 4 0 0 0 4
PRPF31 0 2 0 1 1 0 4
PRSS12 0 0 3 1 0 0 4
PSTPIP1 0 0 0 4 0 0 4
PTF1A 0 0 3 1 0 0 4
PTPRQ 0 0 1 1 2 0 4
PTS 2 0 2 0 0 0 4
PYCR1 0 0 3 1 0 0 4
RAB27A 2 0 2 0 0 0 4
RASA1 0 0 1 2 1 0 4
RASGRP1 0 0 0 4 0 0 4
RBP3 0 0 1 3 0 0 4
RIGI 0 0 1 1 2 0 4
SAG 1 0 3 0 0 0 4
SBDS 4 0 0 0 0 0 4
SCN11A 0 0 2 2 0 0 4
SHANK3 1 1 1 1 0 0 4
SLC10A2 0 0 4 0 0 0 4
SLC26A5 0 0 2 0 2 0 4
SLC39A13 0 0 2 2 0 0 4
SLC40A1 0 3 0 1 0 0 4
SLC46A1 0 1 3 0 0 0 4
SLC7A14 0 0 1 3 0 0 4
SLITRK6 0 1 2 1 0 0 4
SMAD6 0 0 1 3 0 0 4
SMC3 0 0 1 3 0 0 4
SMCHD1 0 0 2 2 0 0 4
SPECC1L, SPECC1L-ADORA2A 0 0 0 4 0 0 4
SPTLC2 0 0 0 2 2 0 4
SRD5A2 3 1 0 0 0 0 4
ST3GAL3 0 0 4 0 0 0 4
STAT5B 0 0 1 2 1 0 4
STRC 1 1 1 1 0 0 4
SUOX 0 1 2 1 0 0 4
TACR3 0 0 2 2 0 0 4
TAP2 0 0 2 2 0 0 4
TBK1 0 0 1 3 0 0 4
TCTN1 0 0 2 2 0 0 4
TCTN2 0 1 3 0 0 0 4
TET3 0 0 2 2 0 0 4
TK2 3 0 0 1 0 0 4
TMEM231 0 0 4 0 0 0 4
TOPORS 0 0 0 4 0 0 4
TP53RK 0 0 2 2 0 0 4
TPK1 1 1 1 1 0 0 4
TRIO 0 0 0 4 0 0 4
TSHR 0 4 0 0 0 0 4
TTC7A 0 1 3 0 0 0 4
TUBA1A 1 2 1 0 0 0 4
TYRP1 0 1 3 0 0 0 4
UCHL1 0 0 1 3 0 0 4
UQCC2 0 0 1 2 1 0 4
UROC1 0 0 1 3 0 0 4
VCAN 0 0 2 2 0 0 4
VPS53 1 2 1 0 0 0 4
WDR35 0 0 3 1 0 0 4
ZAP70 0 0 2 1 1 0 4
ZMYND10 0 0 3 1 0 0 4
ZNF341 0 0 1 1 2 0 4
AARS2, POLR1C 0 0 0 3 0 0 3
ABCA4, LOC126805793 1 0 2 0 0 0 3
ABCB6 0 1 0 2 0 0 3
ABCC6, LOC125146421 0 0 3 0 0 0 3
ABCG5 0 0 3 0 0 0 3
ACD 0 0 3 0 0 0 3
ACE, LOC130061383 0 0 0 3 0 0 3
ACOX1 0 0 3 0 0 0 3
ACSL4 0 0 2 1 0 0 3
ADA, LOC107303343 1 0 0 1 1 0 3
ADAM17, IAH1 0 0 0 3 0 0 3
ADAMTSL2 0 0 2 1 0 0 3
ADAMTSL4 1 1 0 1 0 0 3
AFF2 0 0 1 2 0 0 3
AHCY 0 1 1 0 1 0 3
AHDC1 0 0 0 3 0 0 3
AK2 0 0 2 1 0 0 3
AKAP9, LOC121175350 0 0 3 0 0 0 3
AKT3, SDCCAG8 0 0 1 2 0 0 3
ALDH5A1, GPLD1, LOC129995978 1 0 2 0 0 0 3
ALG12 0 0 3 0 0 0 3
AMER1 0 0 0 3 0 0 3
ANKRD26 1 0 0 2 0 0 3
ANO10 1 0 2 0 0 0 3
AP4B1 1 0 2 0 0 0 3
AP5Z1 0 0 2 1 0 0 3
APOC2, APOC4-APOC2 1 0 0 2 0 0 3
APPL1 0 0 0 2 1 0 3
ARID1B, LOC115308161 0 0 0 3 0 0 3
ARID2 0 0 0 2 1 0 3
ARNT2 0 0 0 3 0 0 3
ASIC4, SPEG 0 1 1 1 0 0 3
ATN1, LOC109461484 0 0 0 3 0 0 3
ATP1A3, LOC130064543 0 0 3 0 0 0 3
ATP2A2 0 0 0 3 0 0 3
B3GALT6 0 0 3 0 0 0 3
B3GAT3 0 0 2 1 0 0 3
B4GALT7 1 0 2 0 0 0 3
BCOR, LOC126863239 0 0 1 2 0 0 3
BGN 0 0 0 2 1 0 3
BICD2 0 0 1 2 0 0 3
BPTF 0 0 0 3 0 0 3
BRAF, LOC126860202 0 0 2 1 0 0 3
C5, C5-OT1 0 0 2 1 0 0 3
C8A 0 0 0 2 1 0 3
CABP2 0 0 2 1 0 0 3
CACNA1F 1 0 0 2 0 0 3
CACNA1G 1 0 0 2 0 0 3
CACNA2D2 0 0 3 0 0 0 3
CACNA2D2, CYB561D2, LOC101928965, LOC127898564 0 0 3 0 0 0 3
CACNA2D2, CYB561D2, LOC127898564 0 0 3 0 0 0 3
CACNA2D4 0 0 0 3 0 0 3
CAV3 1 0 1 1 0 0 3
CBL, LOC130006895 0 0 1 1 1 0 3
CCBE1 0 0 3 0 0 0 3
CCDC141 0 0 0 3 0 0 3
CCDC22 0 0 2 1 0 0 3
CCDC78 0 0 3 0 0 0 3
CD3G, LOC126861358 0 0 0 0 3 0 3
CD55 0 1 1 1 0 0 3
CD81 0 0 0 3 0 0 3
CDC42 1 0 0 2 0 0 3
CDCA7L, DNAH11 0 0 1 2 0 0 3
CDH3 0 0 3 0 0 0 3
CDHR1 0 0 2 1 0 0 3
CDON 0 0 1 2 0 0 3
CDT1 0 0 1 2 0 0 3
CHAT 0 0 2 1 0 0 3
CHRM3 0 0 0 3 0 0 3
CHRNA4, LOC100130587 0 0 1 2 0 0 3
CHRNG, TIGD1 0 0 3 0 0 0 3
CHROMR, PRKRA 1 0 0 2 0 0 3
CISD2, LOC129992892 0 0 2 1 0 0 3
CLCN7 0 0 3 0 0 0 3
CLCNKA, LOC106501712 0 0 1 1 1 0 3
CLPB 0 0 2 1 0 0 3
COG4 1 0 0 2 0 0 3
COG8 0 0 2 1 0 0 3
COL17A1 0 0 1 2 0 0 3
COL9A3, LOC126863084 0 0 2 1 0 0 3
COQ8B 0 0 1 2 0 0 3
CORO1A 0 0 2 1 0 0 3
COX8A, LOC130005904 0 0 0 2 1 0 3
CPA6 0 0 3 0 0 0 3
CREB3L3 0 0 0 1 2 0 3
CTDP1 0 0 1 1 1 0 3
CTNNB1, LOC126806659 1 0 1 1 0 0 3
CTSF 0 0 0 3 0 0 3
CTU2 0 0 1 2 0 0 3
CUBN, LOC126860871 0 1 2 0 0 0 3
CUBN, LOC129390143 0 0 3 0 0 0 3
CYP11B1, LOC110673972 0 0 1 2 0 0 3
CYP7B1 1 1 1 0 0 0 3
D2HGDH 1 0 1 1 0 0 3
DAG1 0 0 1 1 1 0 3
DCDC2, KAAG1 1 0 2 0 0 0 3
DCHS1 0 0 2 1 0 0 3
DGUOK 1 0 1 1 0 0 3
DKC1 0 0 1 1 1 0 3
DNAAF11 1 0 2 0 0 0 3
DNAH9, LOC101928350 0 0 0 3 0 0 3
DNM1 1 0 1 1 0 0 3
DOCK2 0 0 2 0 1 0 3
DSE 0 0 0 2 1 0 3
DSG2, LOC130062340 0 0 2 1 0 0 3
DSPP 1 0 2 0 0 0 3
DTNBP1 0 0 0 3 0 0 3
EDN3 0 0 2 0 1 0 3
EDNRB 0 0 2 0 1 0 3
EFTUD2 1 0 0 2 0 0 3
EGLN1 0 0 2 1 0 0 3
ELOVL4 1 0 1 1 0 0 3
EPHB4 0 0 1 2 0 0 3
EPM2A 1 1 1 0 0 0 3
EPM2A, EPM2A-DT, LOC129997381 0 0 2 1 0 0 3
ESCO2 2 0 0 1 0 0 3
ETFB 0 0 1 2 0 0 3
EZH2 0 0 1 1 1 0 3
F12 0 0 0 3 0 0 3
F12, SLC34A1 1 0 0 2 0 0 3
FERMT3 0 0 0 3 0 0 3
FLVCR1 0 0 2 1 0 0 3
FMO3, LOC126805916 1 0 1 1 0 0 3
FN1, LOC122861289 0 0 0 3 0 0 3
FOXG1 2 0 1 0 0 0 3
FOXL2 2 0 1 0 0 0 3
FOXN1 0 0 3 0 0 0 3
FOXRED1 1 0 2 0 0 0 3
FRMPD4 0 1 0 2 0 0 3
FUCA1 0 0 2 1 0 0 3
FYCO1 0 0 1 2 0 0 3
GABBR2 0 0 3 0 0 0 3
GABRB2 0 0 2 0 1 0 3
GALK1 1 1 1 0 0 0 3
GALNS, LOC126862447 0 0 1 1 1 0 3
GATM, LOC130056991 0 0 1 2 0 0 3
GH-LCR, GH1 1 0 0 2 0 0 3
GJA1 1 0 2 0 0 0 3
GMPPB 2 0 1 0 0 0 3
GP9 2 0 1 0 0 0 3
GRHL2 0 0 2 1 0 0 3
HADHB 1 1 1 0 0 0 3
HJV 1 1 1 0 0 0 3
HMBS 0 0 3 0 0 0 3
HSD17B3, SLC35D2-HSD17B3 2 1 0 0 0 0 3
HSPB8 0 0 1 1 1 0 3
HYLS1, PUS3 1 0 2 0 0 0 3
HYOU1 0 0 1 2 0 0 3
IDH2 0 0 0 3 0 0 3
IDS 0 0 0 3 0 0 3
IGLL1 0 0 2 1 0 0 3
IL12RB1 1 0 1 1 0 0 3
IL1RN 0 0 1 2 0 0 3
IL2RA 0 0 3 0 0 0 3
IMPDH1 0 0 3 0 0 0 3
IMPG2 0 0 2 0 1 0 3
IRF8 0 0 3 0 0 0 3
ISCU 0 0 0 2 1 0 3
ITGA8 0 0 0 3 0 0 3
KBTBD13 0 0 1 2 0 0 3
KCNA2 0 0 1 2 0 0 3
KCNQ4 0 0 3 0 0 0 3
KIAA0586 0 0 2 1 0 0 3
KIAA0753 0 0 0 3 0 0 3
KIF1C 0 0 1 2 0 0 3
KIF21A 1 0 0 2 0 0 3
KIZ 0 0 0 3 0 0 3
KLKB1 0 0 0 2 1 0 3
KNL1 0 0 2 1 0 0 3
KRT9 1 0 1 1 0 0 3
L2HGDH 1 0 2 0 0 0 3
LAMA2, LOC123864065 0 0 2 1 0 0 3
LAMB2, LOC129936738 0 0 2 1 0 0 3
LARGE1 0 0 3 0 0 0 3
LARS2 0 0 3 0 0 0 3
LETM1 0 0 0 2 1 0 3
LOC106029312, NCF1 1 0 2 0 0 0 3
LOC106736614, RET 0 0 2 1 0 0 3
LOC110011216, PHOX2B 1 0 0 2 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 3
LOC114827850, MYL2 0 1 2 0 0 0 3
LOC122152296, USH2A 1 0 2 0 0 0 3
LOC126805612, PIK3CD 0 0 2 0 1 0 3
LOC126806147, LPIN1 0 1 1 1 0 0 3
LOC129935182, TTN 0 1 2 0 0 0 3
LOC129937401, MYLK 0 0 3 0 0 0 3
LOC129992585, SGCB 0 1 2 0 0 0 3
LOC129999735, MNX1 0 0 2 1 0 0 3
LOC130000832, SPAG1 0 2 0 0 1 0 3
LOC130003098, SLC34A3 0 0 3 0 0 0 3
LOC130005549, PDHX 0 1 1 1 0 0 3
LOC130062568, NEDD4L 0 0 0 3 0 0 3
LOC130063575, PRKCSH 0 0 1 2 0 0 3
LOX, SRFBP1 1 0 2 0 0 0 3
LRP6 1 0 0 0 2 0 3
LRRC8A 0 0 0 3 0 0 3
MAF 0 0 0 3 0 0 3
MALT1 0 0 2 1 0 0 3
MAMLD1 0 0 0 2 1 0 3
MED25 0 0 1 2 0 0 3
MIR6084, PINK1 0 0 1 2 0 0 3
MMAB 1 1 1 0 0 0 3
MMP2 0 0 2 1 0 0 3
MPO 1 1 0 1 0 0 3
MTFMT 1 1 1 0 0 0 3
MTHFD1 0 0 3 0 0 0 3
MUTYH, TOE1 0 0 1 2 0 0 3
MYBPC1 0 0 1 2 0 0 3
MYCN, MYCNOS 0 0 0 3 0 0 3
MYH8, MYHAS 0 0 0 3 0 0 3
MYOM1 0 0 3 0 0 0 3
MYT1L 0 0 1 2 0 0 3
NAGA 0 3 0 0 0 0 3
NAGS 0 2 0 1 0 0 3
NBEA 0 0 0 3 0 0 3
NCF2 0 0 0 3 0 0 3
NCSTN 0 0 0 3 0 0 3
NDRG1 0 0 3 0 0 0 3
NDUFAF6 0 0 0 2 1 0 3
NDUFS6 0 1 2 0 0 0 3
NEFL 0 0 3 0 0 0 3
NEU1 0 1 1 1 0 0 3
NFKB1 0 0 1 2 0 0 3
NHERF1, SLC9A3R1 0 0 1 2 0 0 3
NME8 0 0 3 0 0 0 3
ORC1 0 0 0 3 0 0 3
PACS2 1 0 0 2 0 0 3
PANK2 1 0 2 0 0 0 3
PAX3 1 0 2 0 0 0 3
PAX6 1 0 1 1 0 0 3
PBX1 0 1 0 0 2 0 3
PCYT1A 1 0 2 0 0 0 3
PDE6C 0 1 2 0 0 0 3
PDHX 0 0 2 1 0 0 3
PEX11B 0 0 3 0 0 0 3
PGAP1 0 0 1 1 1 0 3
PGM3 0 0 2 1 0 0 3
PHKG2 0 0 3 0 0 0 3
PIK3R2 1 0 1 1 0 0 3
PKP1 0 0 1 2 0 0 3
PLEKHG5 0 1 1 1 0 0 3
PNPLA2 0 0 3 0 0 0 3
POLR3A 0 0 0 3 0 0 3
POMGNT2 0 0 1 2 0 0 3
PRDM5 0 0 2 1 0 0 3
PYCR2 0 2 0 1 0 0 3
QDPR 0 0 2 1 0 0 3
RAB23 1 0 2 0 0 0 3
RAB3GAP1 1 0 2 0 0 0 3
RAD50, TH2-LCR, TH2LCRR 0 1 2 0 0 0 3
RAD50, TH2LCRR 0 0 3 0 0 0 3
RBCK1 1 0 2 0 0 0 3
RDX 0 0 2 1 0 0 3
RFX5 0 0 2 1 0 0 3
RFX6 0 1 1 0 1 0 3
RHBDF2 0 1 0 2 0 0 3
RIPK1 0 0 2 1 0 0 3
RIPOR2 0 0 2 1 0 0 3
RP2 0 0 1 2 0 0 3
RYR3 0 0 3 0 0 0 3
SASH1 0 0 0 2 1 0 3
SEC23B 1 0 0 2 0 0 3
SEC24D 0 0 0 2 1 0 3
SEMA4A 0 0 2 0 1 0 3
SH3PXD2B 0 0 3 0 0 0 3
SHH 0 0 1 2 0 0 3
SIX3 0 0 2 0 1 0 3
SLC10A1 0 0 2 1 0 0 3
SLC16A2 1 1 0 1 0 0 3
SLC20A2 0 0 1 2 0 0 3
SLC25A22 0 0 2 1 0 0 3
SLC26A3 0 1 2 0 0 0 3
SLC5A7 0 0 3 0 0 0 3
SMS 0 0 1 2 0 0 3
SNAP29 0 0 0 3 0 0 3
SNHG14, UBE3A 0 0 3 0 0 0 3
SOBP 0 0 2 1 0 0 3
SON 0 0 1 2 0 0 3
SOX18 0 0 0 3 0 0 3
SP7 0 0 2 1 0 0 3
SPATA7 0 1 2 0 0 0 3
SPINK1 1 0 1 0 1 0 3
SPTB 0 0 1 2 0 0 3
SRD5A3 0 0 3 0 0 0 3
SRP72 0 0 2 1 0 0 3
SRPX2 0 0 3 0 0 0 3
STING1 1 0 0 2 0 0 3
STX1B 0 0 1 2 0 0 3
SUCLG1 0 0 2 0 1 0 3
TBCE 0 0 3 0 0 0 3
TBCK 1 0 1 0 1 0 3
TCF4 0 0 1 2 0 0 3
TCOF1 0 0 1 1 1 0 3
TCTN3 0 1 1 1 0 0 3
TF 0 0 1 0 2 0 3
TGFB1 0 0 1 1 1 0 3
TICAM1 0 0 2 1 0 0 3
TIMM50 0 0 1 2 0 0 3
TLR3 0 0 2 0 1 0 3
TMC1 0 0 3 0 0 0 3
TMC6 0 0 1 2 0 0 3
TNC 0 0 0 2 1 0 3
TNFAIP3 0 0 3 0 0 0 3
TOP3A 0 0 0 2 1 0 3
TOR1A 1 0 1 0 1 0 3
TPRN 0 0 3 0 0 0 3
TSFM 0 1 1 1 0 0 3
TSPEAR 0 0 2 1 0 0 3
TUBB2A 0 0 1 1 1 0 3
TUBB2B 0 0 0 2 1 0 3
TWNK 0 1 2 0 0 0 3
TXNL4A 0 1 1 1 0 0 3
UBA1 0 0 2 1 0 0 3
USB1 0 1 0 2 0 0 3
VPS45 0 0 3 0 0 0 3
WASHC5 0 0 2 1 0 0 3
WDR36 0 0 1 2 0 0 3
XRCC2 0 0 3 0 0 0 3
ZC4H2 1 1 0 0 1 0 3
ZIC2 0 0 1 2 0 0 3
ZNF408 0 1 2 0 0 0 3
AASS 0 0 1 1 0 0 2
ABCA12, SNHG31 0 0 1 1 0 0 2
ABCA7 0 0 0 2 0 0 2
ABCB11, LOC126806400 0 1 1 0 0 0 2
ABCB7 0 0 0 2 0 0 2
ACAD8 0 0 1 1 0 0 2
ACADVL, DLG4 0 0 1 0 1 0 2
ACADVL, LOC130060113 0 0 1 0 1 0 2
ACO2, POLR3H 0 0 2 0 0 0 2
ACP5 0 0 2 0 0 0 2
ACSF3, LOC125177393 0 0 2 0 0 0 2
ACTA1 1 0 0 1 0 0 2
ADAMTS10 0 0 0 2 0 0 2
ADAR, LOC126805874 0 0 0 2 0 0 2
ADRB3 0 0 2 0 0 0 2
AGBL5 0 0 0 1 1 0 2
AGPS 0 0 1 1 0 0 2
AKAP9, LOC129998788 0 0 2 0 0 0 2
ALX4 0 0 0 0 2 0 2
AMPD1 0 2 0 0 0 0 2
ANKH, LOC100130744, OTULIN 0 0 0 2 0 0 2
ANTXR2 0 0 0 1 1 0 2
AP4S1 2 0 0 0 0 0 2
APTX 0 0 0 2 0 0 2
ARG1 1 0 1 0 0 0 2
ARHGEF18 0 0 2 0 0 0 2
ARHGEF9 0 0 1 1 0 0 2
ARMC5 0 0 1 1 0 0 2
ASH1L 0 0 1 1 0 0 2
ATP13A2, LOC129929540 0 0 2 0 0 0 2
ATP6AP2 0 0 0 2 0 0 2
ATPAF2 0 0 1 1 0 0 2
AXIN1 0 0 0 2 0 0 2
AXL 0 0 0 2 0 0 2
B3GALNT2 0 1 1 0 0 0 2
B3GLCT 0 0 0 1 1 0 2
B4GALT1 0 0 0 2 0 0 2
BAAT 0 0 2 0 0 0 2
BACH2 0 0 0 2 0 0 2
BBS5, LOC129935068 0 0 2 0 0 0 2
BCKDK 0 0 1 1 0 0 2
BDP1 0 0 1 1 0 0 2
BIVM-ERCC5, ERCC5, LOC126861834 0 0 2 0 0 0 2
BLK, LOC126860303 0 0 0 2 0 0 2
BLNK 0 0 1 1 0 0 2
BLOC1S3 0 0 2 0 0 0 2
BMP1 0 0 2 0 0 0 2
BOLA3 0 0 1 1 0 0 2
BUB1B, BUB1B-PAK6 0 0 2 0 0 0 2
C12orf43, HNF1A 0 0 2 0 0 0 2
CACNB4 0 0 1 1 0 0 2
CACNB4, LOC129934925 0 0 2 0 0 0 2
CALM3 0 0 1 0 1 0 2
CAPN3, LOC126862115 1 0 1 0 0 0 2
CASK 1 0 0 1 0 0 2
CAST 0 0 0 0 2 0 2
CBL, FRA11B, LOC130006894 0 0 2 0 0 0 2
CCDC50 0 0 1 0 1 0 2
CCDC8 0 0 1 1 0 0 2
CCM2 1 0 0 1 0 0 2
CCNO, LOC129993895 2 0 0 0 0 0 2
CD3D 1 1 0 0 0 0 2
CD79A 0 0 2 0 0 0 2
CDH2 0 0 0 2 0 0 2
CDK4, TSPAN31 0 0 2 0 0 0 2
CDK5RAP2 0 0 0 2 0 0 2
CDKN2A, LOC130001603 1 0 0 1 0 0 2
CEP104 0 0 1 1 0 0 2
CEP290, LOC129390514 1 0 0 1 0 0 2
CERS1, GDF1 0 0 2 0 0 0 2
CFTR, LOC111674477 2 0 0 0 0 0 2
CFTR, LOC113633877 1 0 1 0 0 0 2
CHAMP1 0 0 0 1 1 0 2
CHD1 0 0 0 2 0 0 2
CHD4 0 0 0 2 0 0 2
CHRNA1 0 1 1 0 0 0 2
CHRNE, LOC130060041 0 0 2 0 0 0 2
CHST3 0 0 0 2 0 0 2
CIC 0 0 0 2 0 0 2
CIZ1, DNM1 0 0 0 1 1 0 2
CLCC1, GPSM2 0 0 1 1 0 0 2
CLDN14 0 0 2 0 0 0 2
CLEC7A 0 0 0 2 0 0 2
CLN5, LOC130009913 0 1 1 0 0 0 2
CLPB, LOC126861258 1 1 0 0 0 0 2
CLPP 0 0 1 1 0 0 2
CNTN1 0 0 0 1 1 0 2
CNTN2, LOC126805985 0 0 1 1 0 0 2
CNTNAP1 0 0 0 2 0 0 2
CNTNAP2, LOC126860216 0 0 2 0 0 0 2
COQ4 0 1 0 1 0 0 2
COQ6 0 0 0 2 0 0 2
COX10, LOC105943586 0 0 2 0 0 0 2
COX15 0 0 2 0 0 0 2
COX20, HNRNPU 0 0 1 1 0 0 2
CPE 0 0 0 2 0 0 2
CPOX, LOC129937121 0 0 2 0 0 0 2
CRAT 0 0 0 2 0 0 2
CRELD1 0 0 1 1 0 0 2
CRTAP 0 0 2 0 0 0 2
CRX 0 0 0 1 1 0 2
CTCF 0 0 0 2 0 0 2
CTNNB1 0 0 0 2 0 0 2
CTNNB1, LOC126806658 1 0 0 1 0 0 2
CTSD, PRADX 0 0 0 2 0 0 2
CUL4B 0 0 1 1 0 0 2
CYFIP2 0 0 0 2 0 0 2
CYP19A1, MIR4713HG, PIRC66 0 1 1 0 0 0 2
CYP2U1, SGMS2 1 0 0 1 0 0 2
CYP4F22 1 1 0 0 0 0 2
DACT1 0 0 0 2 0 0 2
DDC 0 1 0 1 0 0 2
DDHD2 0 0 1 1 0 0 2
DDOST 0 0 2 0 0 0 2
DDX41 0 1 1 0 0 0 2
DHODH 0 0 2 0 0 0 2
DHTKD1 0 1 0 1 0 0 2
DLL3, LOC130064417 0 1 0 1 0 0 2
DM1, LOC107075317, LOC129929037, SIX5 0 0 1 1 0 0 2
DMAC2L, L2HGDH 0 0 0 2 0 0 2
DNAAF2, LOC130055542 0 0 2 0 0 0 2
DNHD1 0 0 0 2 0 0 2
DNMT1, LOC126862853 0 0 0 2 0 0 2
DNMT3A 0 0 1 0 1 0 2
DPM2 0 1 1 0 0 0 2
DSG1 0 0 1 1 0 0 2
DSG1, LOC126862720 0 0 0 2 0 0 2
DUOXA2 1 1 0 0 0 0 2
DYNC2I2, LOC126860772 0 0 1 1 0 0 2
DYRK1A 0 0 1 1 0 0 2
DZIP1L 0 0 1 1 0 0 2
EDAR, RANBP2 0 0 0 2 0 0 2
EGFR 0 0 1 1 0 0 2
EHHADH 0 0 2 0 0 0 2
EIF2AK4 0 0 0 1 1 0 2
EIF2B1 0 0 0 2 0 0 2
EIF2B2 1 0 0 1 0 0 2
EIF2B3 0 1 1 0 0 0 2
EIF2B4, GTF3C2 0 0 2 0 0 0 2
ELMOD3 0 0 1 1 0 0 2
ENTREP2, NSMCE3 0 0 2 0 0 0 2
EPHA2 0 0 0 2 0 0 2
ERBB4 0 0 0 0 2 0 2
ERCC4, LOC130058543 0 0 2 0 0 0 2
ERCC6, PGBD3 1 0 1 0 0 0 2
ERMARD 0 0 0 2 0 0 2
ESR1 0 0 0 1 1 0 2
FAH, LOC112272621 0 0 1 1 0 0 2
FAM83H 2 0 0 0 0 0 2
FANCA, LOC130059837 0 1 1 0 0 0 2
FANCL, VRK2 0 0 0 2 0 0 2
FARS2, LOC126859565 0 0 2 0 0 0 2
FARSB 0 1 0 1 0 0 2
FAS 0 1 1 0 0 0 2
FASTKD2, LOC126806484 0 0 2 0 0 0 2
FBLN5 0 0 2 0 0 0 2
FBN1, LOC113939944 0 0 2 0 0 0 2
FBXO11 0 0 0 2 0 0 2
FGF12 0 0 1 1 0 0 2
FMN2 0 0 0 2 0 0 2
FMO3 0 0 2 0 0 0 2
FMR1 0 0 0 0 2 0 2
FOLR1 0 0 2 0 0 0 2
FOXP1 0 1 1 0 0 0 2
FRAS1, LOC126807089 0 1 1 0 0 0 2
FREM1, LOC126860582 0 0 1 1 0 0 2
FRMD4A 0 0 0 2 0 0 2
FTL 0 2 0 0 0 0 2
GABRB3 0 0 2 0 0 0 2
GABRG2 0 0 2 0 0 0 2
GARS1 0 0 2 0 0 0 2
GATAD1, LOC129998793 0 0 2 0 0 0 2
GCDH, LOC126862860, SYCE2 2 0 0 0 0 0 2
GCH1, LOC130055692 0 0 2 0 0 0 2
GCSH 0 0 1 1 0 0 2
GFPT1 1 0 1 0 0 0 2
GHR 0 0 2 0 0 0 2
GJB4 0 0 0 2 0 0 2
GJC2 0 0 1 1 0 0 2
GLE1 0 0 2 0 0 0 2
GLMN 2 0 0 0 0 0 2
GLRB 0 0 0 2 0 0 2
GNAT1 0 1 0 1 0 0 2
GNPTG, LOC130058158 0 0 2 0 0 0 2
GOSR2, LRRC37A2 1 0 1 0 0 0 2
GP1BA 0 0 0 0 2 0 2
GP1BA, LOC130060044 0 0 2 0 0 0 2
GP1BB, SEPT5-GP1BB 0 0 1 1 0 0 2
GRHL3 0 1 0 0 1 0 2
GRIA3 0 0 1 1 0 0 2
GRIN1 0 1 0 1 0 0 2
GRN, LOC125177489 0 0 0 2 0 0 2
GSDME 0 0 2 0 0 0 2
GTPBP3 0 0 1 1 0 0 2
H6PD 0 0 0 2 0 0 2
HABP2 0 0 0 2 0 0 2
HARS2 0 0 0 2 0 0 2
HCN1 0 0 1 1 0 0 2
HDAC8 0 0 0 1 1 0 2
HESX1 0 1 1 0 0 0 2
HMCN1, LOC129388665 0 0 0 2 0 0 2
HNRNPDL 0 0 2 0 0 0 2
HPS6, LOC130004578 0 0 2 0 0 0 2
HSD3B7 1 0 1 0 0 0 2
HSPB1 0 0 2 0 0 0 2
HSPD1 0 0 1 1 0 0 2
HTT 0 0 0 2 0 0 2
HYCC1 0 0 2 0 0 0 2
IARS2 0 0 0 1 1 0 2
IDH3B 0 0 2 0 0 0 2
IFNAR2-IL10RB, IL10RB 0 0 1 1 0 0 2
IFNGR1 1 0 0 0 1 0 2
IFT122, LOC126806810 0 0 1 1 0 0 2
IFT80, TRIM59-IFT80 0 0 2 0 0 0 2
IL17RA 0 0 2 0 0 0 2
IL23R 0 0 0 2 0 0 2
IL2RG 1 0 0 1 0 0 2
INS 1 0 1 0 0 0 2
INS, INS-IGF2, TH 0 0 0 1 1 0 2
INTU 0 0 0 2 0 0 2
IQSEC1 0 0 0 2 0 0 2
ITGA2B 0 0 0 2 0 0 2
ITGA7, LOC126861535 0 0 2 0 0 0 2
ITPA 0 0 0 1 1 0 2
JAK1 0 0 2 0 0 0 2
JUP, LOC130060847 0 0 2 0 0 0 2
KARS1 0 0 1 1 0 0 2
KATNIP 0 0 0 2 0 0 2
KCNC1 1 0 1 0 0 0 2
KCTD1 0 0 1 1 0 0 2
KIF14 0 0 0 2 0 0 2
KIF7, LOC126862216 0 0 1 1 0 0 2
KIFBP 1 0 1 0 0 0 2
KIRREL3 0 0 1 1 0 0 2
KISS1R 0 0 0 2 0 0 2
KIZ, LOC130065509 1 0 1 0 0 0 2
KLHL41 0 0 1 1 0 0 2
KLLN, LOC130004273, PTEN 0 0 1 1 0 0 2
KMT2C, LOC123956272 0 0 0 2 0 0 2
KMT2D, LOC126861520 0 0 1 1 0 0 2
KRT5 1 0 0 1 0 0 2
LAMA4, LOC126859766 0 0 2 0 0 0 2
LAMC2 0 1 1 0 0 0 2
LAS1L 0 0 1 1 0 0 2
LCAT, SLC12A4 1 1 0 0 0 0 2
LFNG 0 0 1 1 0 0 2
LIPT2 0 0 0 2 0 0 2
LOC102723692, XYLT1 0 0 1 1 0 0 2
LOC110008580, ZIC2 0 0 2 0 0 0 2
LOC112272600, MYO1E 0 0 1 1 0 0 2
LOC112529895, SCO1 0 0 2 0 0 0 2
LOC112840921, OTOF 0 0 1 0 1 0 2
LOC113687175, TFR2 0 0 2 0 0 0 2
LOC123956210, SLC26A4 1 1 0 0 0 0 2
LOC125467768, PCDH19 1 0 0 1 0 0 2
LOC126653391, RSPH1 1 1 0 0 0 0 2
LOC126806792, MYLK 0 0 2 0 0 0 2
LOC126859827, TAB2 0 1 1 0 0 0 2
LOC126859871, PRKN 0 0 0 2 0 0 2
LOC126860130, RELN, SLC26A5 0 0 0 2 0 0 2
LOC126860392, RP1 0 0 1 1 0 0 2
LOC126860438, NBN 1 0 0 1 0 0 2
LOC126861356, SCN4B 0 0 2 0 0 0 2
LOC126861509, PRICKLE1 0 0 2 0 0 0 2
LOC126862123, SLC12A1 0 0 2 0 0 0 2
LOC126862422, MLYCD 0 0 1 1 0 0 2
LOC126862500, MYH2, MYHAS 0 0 2 0 0 0 2
LOC126862763, NEDD4L 0 0 1 1 0 0 2
LOC126862987, SEC23B 2 0 0 0 0 0 2
LOC127814297, POU4F3 0 0 2 0 0 0 2
LOC129934069, SPR 0 0 1 1 0 0 2
LOC129934236, ST3GAL5 0 0 1 0 1 0 2
LOC129936056, SUMF1 0 0 2 0 0 0 2
LOC129936244, XPC 0 0 2 0 0 0 2
LOC129936652, PTH1R 1 0 0 1 0 0 2
LOC129998796, PEX1 1 0 1 0 0 0 2
LOC130055323, SLC7A7 0 2 0 0 0 0 2
LOC130062899, STK11 0 0 1 1 0 0 2
LOC130063650, MAN2B1 0 0 2 0 0 0 2
LOC130065345, PANK2 1 0 0 1 0 0 2
LOC130065433, NDUFAF5 0 1 1 0 0 0 2
LOC130066960, TXNRD2 0 0 2 0 0 0 2
LOC132089829, MYPN 0 0 2 0 0 0 2
LOC132090059, PUS1 0 0 1 1 0 0 2
LRSAM1 0 0 2 0 0 0 2
LSS 0 0 0 1 1 0 2
MAF, WWOX 0 0 1 1 0 0 2
MAP1B 0 0 0 2 0 0 2
MAP3K1 0 0 0 2 0 0 2
MBTPS1 0 0 0 2 0 0 2
MCEE 1 0 1 0 0 0 2
MED23 0 0 2 0 0 0 2
MEGF10 0 0 1 1 0 0 2
MEGF8 0 0 1 1 0 0 2
MFF 0 0 0 2 0 0 2
MICAL1 0 0 0 2 0 0 2
MID1 0 0 0 2 0 0 2
MLXIPL 0 0 0 2 0 0 2
MME 0 0 0 2 0 0 2
MMP9 0 0 2 0 0 0 2
MPDZ 0 0 1 1 0 0 2
MT-ND4 1 0 1 0 0 0 2
MT-TL1 2 0 0 0 0 0 2
MUSK 0 0 1 1 0 0 2
MYO5A 0 0 1 0 1 0 2
MYO5B, SNHG22 0 0 0 2 0 0 2
NAA15 1 0 0 0 1 0 2
NAXD 0 0 0 2 0 0 2
NDUFA10 0 0 0 1 1 0 2
NDUFB9 0 0 0 2 0 0 2
NDUFS4 0 1 1 0 0 0 2
NDUFS7 0 0 1 1 0 0 2
NDUFS8 0 1 1 0 0 0 2
NDUFV1 1 0 1 0 0 0 2
NEBL 0 0 2 0 0 0 2
NEK2 0 0 1 1 0 0 2
NEUROG3 0 0 1 1 0 0 2
NGF 0 0 1 1 0 0 2
NHP2, RMND5B 0 0 0 2 0 0 2
NIN 0 0 0 2 0 0 2
NLGN4X 0 0 1 1 0 0 2
NOS1AP 0 0 0 1 1 0 2
NOS3 0 0 0 1 1 0 2
NPAP1 0 0 0 2 0 0 2
NPM1 0 0 0 2 0 0 2
NPR2 0 0 2 0 0 0 2
NRL 1 0 1 0 0 0 2
NRL, PCK2 0 0 1 0 1 0 2
NUP205 0 0 1 1 0 0 2
NXN 0 0 0 2 0 0 2
ORC4 0 0 0 1 1 0 2
OTULIN 0 0 0 2 0 0 2
OTX2 0 0 1 1 0 0 2
OXCT1 0 1 0 0 1 0 2
P3H2 0 0 1 0 1 0 2
PAFAH1B1 0 0 2 0 0 0 2
PAPSS2 0 0 0 2 0 0 2
PCK1 0 0 0 2 0 0 2
PIGA 0 0 1 1 0 0 2
PIGG 1 0 0 1 0 0 2
PIGL 1 0 1 0 0 0 2
PJVK 0 0 2 0 0 0 2
PLAA 0 0 0 2 0 0 2
PLCB4 0 0 0 2 0 0 2
PLD1 0 1 1 0 0 0 2
PLP1, RAB9B 0 0 0 1 1 0 2
PNPLA6 1 0 1 0 0 0 2
PNPO 1 0 1 0 0 0 2
PNPT1 0 0 1 1 0 0 2
POLR1C, RSPH9 1 0 1 0 0 0 2
POLRMT 0 0 0 2 0 0 2
POMP 0 0 1 1 0 0 2
PON3 0 0 2 0 0 0 2
POT1 0 0 2 0 0 0 2
PPM1D 0 0 0 2 0 0 2
PPP2R1A 0 1 0 1 0 0 2
PRKCD 0 0 2 0 0 0 2
PRKD1 0 0 0 2 0 0 2
PUF60 0 0 0 2 0 0 2
PURA 1 0 1 0 0 0 2
RAB3GAP2 0 0 2 0 0 0 2
RARB 1 0 0 1 0 0 2
RARS1 0 1 0 1 0 0 2
RAX 0 0 2 0 0 0 2
RBFOX3 0 0 2 0 0 0 2
RELA 0 0 0 2 0 0 2
RETREG1 0 0 1 1 0 0 2
RFT1 0 0 2 0 0 0 2
RGS9 0 0 2 0 0 0 2
RHO 1 0 1 0 0 0 2
RIMS2 0 0 0 2 0 0 2
RLBP1 0 0 2 0 0 0 2
RNF168 0 1 0 1 0 0 2
RNF43 0 0 0 2 0 0 2
ROBO3 0 0 0 1 1 0 2
ROGDI 0 1 0 1 0 0 2
RORC 0 0 1 1 0 0 2
RPS17 0 0 0 2 0 0 2
RPS6KA3 0 0 1 1 0 0 2
RSPH1 0 1 1 0 0 0 2
RUSF1, SLC5A2 0 0 2 0 0 0 2
RXYLT1 0 0 1 1 0 0 2
SARDH 0 0 0 1 1 0 2
SARM1, SLC46A1 0 0 2 0 0 0 2
SEMA3A 0 0 0 2 0 0 2
SEPTIN9 1 0 1 0 0 0 2
SERPINB6 0 0 2 0 0 0 2
SERPINB7 1 0 0 0 1 0 2
SERPING1 1 0 1 0 0 0 2
SH2B3 0 0 1 0 1 0 2
SH2D1A 0 0 0 2 0 0 2
SHANK2 0 0 1 1 0 0 2
SHOX 0 0 0 1 1 0 2
SIL1 0 0 1 1 0 0 2
SIN3A 0 0 0 2 0 0 2
SLC16A1 0 0 0 2 0 0 2
SLC19A2 0 1 1 0 0 0 2
SLC25A19 0 0 2 0 0 0 2
SLC33A1 0 0 1 1 0 0 2
SLC35A2 0 0 2 0 0 0 2
SLC35A3 1 0 1 0 0 0 2
SLC38A8 0 1 0 1 0 0 2
SLC41A1 0 0 0 2 0 0 2
SLC5A5 0 1 1 0 0 0 2
SLC6A5 0 1 0 1 0 0 2
SLC9A6 0 0 0 1 1 0 2
SMARCC2 0 0 2 0 0 0 2
SMARCE1 0 0 2 0 0 0 2
SOD1 2 0 0 0 0 0 2
SP110 0 0 0 2 0 0 2
SPEF2 0 0 0 2 0 0 2
SPR 1 0 1 0 0 0 2
SQSTM1 0 0 0 2 0 0 2
SRP54 0 0 0 2 0 0 2
ST3GAL5 1 0 1 0 0 0 2
STAG2 0 0 0 2 0 0 2
STK36 0 0 0 1 1 0 2
STN1 0 0 1 1 0 0 2
STRA6 0 0 2 0 0 0 2
STS 0 0 0 2 0 0 2
SUZ12 0 0 0 2 0 0 2
SVIL 0 0 0 2 0 0 2
SYN1 0 0 2 0 0 0 2
SYNJ1 0 0 0 2 0 0 2
TAF2 0 0 0 2 0 0 2
TAPBP 0 0 1 1 0 0 2
TAT 0 1 1 0 0 0 2
TBCD 0 1 1 0 0 0 2
TBX22 0 0 1 1 0 0 2
TBX6 0 0 0 2 0 0 2
TBXAS1 0 0 0 2 0 0 2
TELO2 0 1 0 1 0 0 2
TFG 0 0 1 1 0 0 2
THAP1 0 1 1 0 0 0 2
THOC2 0 0 0 2 0 0 2
THRB 1 0 0 1 0 0 2
TMC8 0 0 2 0 0 0 2
TMCO1 1 0 0 1 0 0 2
TMEM132E 0 0 1 1 0 0 2
TMPRSS6 0 1 0 0 1 0 2
TNFRSF11A 0 0 2 0 0 0 2
TNFRSF4 0 0 1 1 0 0 2
TPH2 0 0 1 1 0 0 2
TPM2 0 0 0 2 0 0 2
TRAF3 0 0 2 0 0 0 2
TRAIP 0 0 0 2 0 0 2
TRAK1 0 0 0 2 0 0 2
TRAPPC11 0 1 0 1 0 0 2
TRPS1 0 0 0 2 0 0 2
TRPV3 0 0 0 2 0 0 2
TRRAP 0 1 1 0 0 0 2
TSHB 2 0 0 0 0 0 2
TTBK2 0 0 2 0 0 0 2
TTC19 0 0 1 1 0 0 2
TUBA8 0 0 2 0 0 0 2
TUBB1 0 0 1 1 0 0 2
TUBB4A 0 1 0 1 0 0 2
TWIST1 0 0 1 1 0 0 2
TYK2 0 0 2 0 0 0 2
UBR1 0 1 0 1 0 0 2
UNC93B1 0 0 1 1 0 0 2
UNG 0 0 2 0 0 0 2
UPF3B 0 0 0 2 0 0 2
USP9X 0 0 1 1 0 0 2
VPS33A 0 0 0 2 0 0 2
VPS33B 0 0 1 0 1 0 2
VSX1 0 0 0 2 0 0 2
VWA1 1 1 0 0 0 0 2
WDR1 0 0 1 0 1 0 2
WDR45 0 0 1 1 0 0 2
XPR1 0 0 0 1 1 0 2
YARS1 0 0 2 0 0 0 2
ZEB1 0 0 0 2 0 0 2
ZNF462 0 0 0 2 0 0 2
AAGAB 0 0 1 0 0 0 1
ABCA2 0 0 0 1 0 0 1
ABCA4, LOC126805794 0 0 1 0 0 0 1
ABCB4, LOC129998757 0 0 1 0 0 0 1
ABCC2, LOC126861012 0 0 1 0 0 0 1
ABCG2 0 0 1 0 0 0 1
ABCG5, ABCG8 0 0 0 1 0 0 1
ABHD12, LOC130065586 0 0 1 0 0 0 1
ABI1, PDSS1 0 0 0 1 0 0 1
ACADVL, DVL2 1 0 0 0 0 0 1
ACBD6, LHX4 0 0 0 1 0 0 1
ACOX2 0 0 0 1 0 0 1
ACP4 0 1 0 0 0 0 1
ACTN1 0 0 1 0 0 0 1
ACVR1 1 0 0 0 0 0 1
ACVR2B 0 0 0 0 1 0 1
ACYP1, NPC2 0 0 0 1 0 0 1
ADAM10 0 0 0 1 0 0 1
ADAM22 0 0 0 1 0 0 1
ADAMTS17 0 0 0 0 1 0 1
ADAMTS18 0 0 1 0 0 0 1
ADAMTS3 0 0 0 1 0 0 1
ADCY1 0 0 0 1 0 0 1
ADGRE2 0 0 0 1 0 0 1
ADGRG6 0 0 0 1 0 0 1
ADK 0 0 1 0 0 0 1
ADNP, DPM1 0 0 1 0 0 0 1
ADSS1 0 1 0 0 0 0 1
AEBP1 0 0 1 0 0 0 1
AFF3 0 1 0 0 0 0 1
AFG3L2 0 1 0 0 0 0 1
AFG3L2, TUBB6 0 0 1 0 0 0 1
AGK 0 0 1 0 0 0 1
AGRP, ATP6V0D1-DT 0 0 1 0 0 0 1
AICDA 0 0 0 1 0 0 1
AIFM1, LOC130068679, RAB33A 0 0 0 1 0 0 1
AIMP2 0 0 0 1 0 0 1
AKAP9, LOC129998789 0 0 1 0 0 0 1
AKR1D1 0 1 0 0 0 0 1
AKT1 0 0 0 1 0 0 1
AKT2 0 0 0 1 0 0 1
ALAD 0 0 0 1 0 0 1
ALDH1A3 0 0 0 1 0 0 1
ALDH2 0 0 0 1 0 0 1
ALDH4A1, LOC120893116 0 0 1 0 0 0 1
ALDH4A1, LOC129929550 0 0 1 0 0 0 1
ALDH5A1, LOC129995978 0 0 1 0 0 0 1
ALG11, LOC130009841 0 0 0 1 0 0 1
ALG14, LOC129930989 0 0 0 1 0 0 1
ALG3 0 0 1 0 0 0 1
ALG8, LOC130006492 0 0 0 1 0 0 1
ALKBH8 0 0 0 1 0 0 1
AMHR2 1 0 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 0 1
AMN, LOC130056553 0 0 0 1 0 0 1
AMPD2 0 0 0 1 0 0 1
AMT, NICN1 0 0 1 0 0 0 1
ANAPC1 0 0 0 1 0 0 1
ANGPT2, MCPH1 0 0 1 0 0 0 1
ANK1, LOC124153154 0 0 0 1 0 0 1
ANKH 0 0 0 0 1 0 1
ANKRD26, LOC130003554 0 0 1 0 0 0 1
ANO3 0 0 1 0 0 0 1
AP1S1, LOC126860125 0 0 0 1 0 0 1
AP1S3 0 0 0 1 0 0 1
AP3B2, CPEB1 0 0 0 1 0 0 1
AP3B2, LOC130057772 0 0 0 1 0 0 1
APC, LOC129994371 0 0 1 0 0 0 1
APC2 0 0 1 0 0 0 1
APOA5 0 1 0 0 0 0 1
APOA5, LOC108491825 0 0 0 0 1 0 1
APRT, LOC130059760 1 0 0 0 0 0 1
ARCN1 0 0 0 1 0 0 1
ARFGEF1, CSPP1 0 0 0 1 0 0 1
ARFGEF2 0 0 1 0 0 0 1
ARHGAP31 0 0 0 1 0 0 1
ARHGDIA 0 0 1 0 0 0 1
ARHGEF2 0 0 0 1 0 0 1
ARID1A, LOC126805670 0 0 1 0 0 0 1
ARID2, LOC130007728 0 0 0 1 0 0 1
ARL3 0 0 1 0 0 0 1
ARMC5, LOC130058906 0 0 0 1 0 0 1
ARSG 0 0 0 1 0 0 1
ARSL 0 0 1 0 0 0 1
ARX, LOC109610631 0 0 1 0 0 0 1
ASAH1, LOC129999940 0 1 0 0 0 0 1
ASB10 0 0 0 1 0 0 1
ASCL1, PAH 0 0 0 1 0 0 1
ASXL2 0 0 0 1 0 0 1
ATAD1 0 0 0 1 0 0 1
ATP2A1 0 1 0 0 0 0 1
ATP2A2, LOC126861637 0 0 0 0 1 0 1
ATP2B3 0 0 0 1 0 0 1
ATP6V0A2, LOC130009117 0 0 1 0 0 0 1
ATP6V0A4, LOC129389889 0 1 0 0 0 0 1
ATP6V1A 0 0 0 1 0 0 1
ATP7B, LOC130009838 0 0 1 0 0 0 1
ATXN10 0 0 0 1 0 0 1
AUH, LOC130002059 0 0 0 0 1 0 1
AURKC 1 0 0 0 0 0 1
B4GAT1 0 0 1 0 0 0 1
B9D2 0 0 0 1 0 0 1
BBS7, LOC129993036 0 0 1 0 0 0 1
BCAM 0 0 0 0 1 0 1
BCL10 0 0 1 0 0 0 1
BCL11A 0 0 1 0 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 0 0 0 1
BCR 0 0 0 1 0 0 1
BCS1L, LOC129935609 0 0 1 0 0 0 1
BEST1, FTH1 1 0 0 0 0 0 1
BLOC1S1-RDH5, RDH5 1 0 0 0 0 0 1
BLOC1S6 0 0 1 0 0 0 1
BMP1, LOC113788269 0 0 1 0 0 0 1
BMPR1B 0 0 0 1 0 0 1
BMPR2, LOC129935434 0 0 0 0 1 0 1
BNC2 0 0 0 1 0 0 1
BRF1 0 0 0 1 0 0 1
BRPF1 0 0 0 1 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 1 0 0 0 1
BVES 0 0 0 1 0 0 1
C12orf57 0 0 1 0 0 0 1
C14orf39, SIX6 0 0 1 0 0 0 1
C1GALT1C1 0 0 0 1 0 0 1
C1R 0 0 1 0 0 0 1
C22orf31, KREMEN1 0 0 0 1 0 0 1
C2CD3 0 1 0 0 0 0 1
C9orf72 0 0 1 0 0 0 1
CACNA1A, LOC126862865 0 0 0 1 0 0 1
CACNA1A, LOC126862866 0 0 0 1 0 0 1
CACNA1D, LOC129936904 0 0 1 0 0 0 1
CAD 0 0 0 1 0 0 1
CALR 1 0 0 0 0 0 1
CALR3 0 0 1 0 0 0 1
CAMTA1, LOC126805603 0 0 1 0 0 0 1
CANT1 0 0 1 0 0 0 1
CAPN1 0 0 1 0 0 0 1
CAPN5 0 0 0 1 0 0 1
CARS1 0 0 0 1 0 0 1
CASD1, SGCE 0 0 1 0 0 0 1
CASP10 0 0 1 0 0 0 1
CASP8 0 0 0 1 0 0 1
CASQ1 0 0 0 1 0 0 1
CATIP, PNKD 0 0 1 0 0 0 1
CATSPER1 0 0 0 1 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 0 1
CCDC174 0 0 0 1 0 0 1
CCDC28B 0 0 0 1 0 0 1
CCDC88A 0 0 0 1 0 0 1
CCN6 0 0 0 0 1 0 1
CCND2 0 0 0 1 0 0 1
CD19 0 0 1 0 0 0 1
CD247 0 1 0 0 0 0 1
CD36 1 0 0 0 0 0 1
CD3E 0 0 0 1 0 0 1
CD40 0 0 1 0 0 0 1
CD40LG 1 0 0 0 0 0 1
CD79B, GH-LCR 0 0 1 0 0 0 1
CD96 0 0 0 1 0 0 1
CDC14A 0 0 0 1 0 0 1
CDCA7 0 0 1 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 1
CDH23, LOC111982869 0 0 1 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 1 0 0 0 0 0 1
CDK19 0 0 1 0 0 0 1
CDK4 0 0 1 0 0 0 1
CDSN, PSORS1C1 0 0 0 1 0 0 1
CELSR1, LOC121627952 0 0 0 1 0 0 1
CENPE 0 1 0 0 0 0 1
CENPJ, RNF17 0 0 1 0 0 0 1
CEP120 0 0 0 0 1 0 1
CEP128, TSHR 0 0 1 0 0 0 1
CEP250 0 0 0 1 0 0 1
CETP, LOC130059064 0 0 0 1 0 0 1
CFAP298, CFAP298-TCP10L 0 1 0 0 0 0 1
CFAP53 0 0 0 1 0 0 1
CFHR1 0 0 1 0 0 0 1
CFP 0 0 1 0 0 0 1
CFTR, LOC111674463 0 0 0 1 0 0 1
CFTR, LOC113664106 1 0 0 0 0 0 1
CHD2, LOC126862230 0 0 1 0 0 0 1
CHM 1 0 0 0 0 0 1
CHMP2B, POU1F1 0 0 0 1 0 0 1
CHRNA4, LOC126863087 0 0 1 0 0 0 1
CHUK-DT, CWF19L1 0 0 1 0 0 0 1
CILK1 0 0 0 1 0 0 1
CIT 0 0 0 1 0 0 1
CKAP2L 0 1 0 0 0 0 1
CLCN7, LOC130058166 0 0 0 1 0 0 1
CLPB, LOC130006336 0 0 1 0 0 0 1
CLTC 0 0 0 1 0 0 1
COA6 0 0 0 1 0 0 1
COASY 0 1 0 0 0 0 1
COG1 0 1 0 0 0 0 1
COG2 0 0 0 1 0 0 1
COG8, LOC130059304 0 0 0 1 0 0 1
COL13A1 0 0 1 0 0 0 1
COL1A1, LOC126862586 1 0 0 0 0 0 1
COL27A1, LOC126860736 0 0 0 0 1 0 1
COL4A3, COL4A4 0 0 1 0 0 0 1
COL6A2, FTCD 0 0 0 1 0 0 1
COMT, TXNRD2 0 0 1 0 0 0 1
COPB2 0 0 0 1 0 0 1
COQ4, LOC130002704 0 0 1 0 0 0 1
CORO1A, LOC121587541 0 0 1 0 0 0 1
COX10, LOC130060303 0 0 1 0 0 0 1
COX20, LOC129932912 0 0 0 1 0 0 1
COX4I1 0 0 0 1 0 0 1
COX8A 0 0 0 1 0 0 1
CPOX 0 1 0 0 0 0 1
CPT1A, LOC126861244 0 0 1 0 0 0 1
CPT1C 0 0 1 0 0 0 1
CR1 0 0 0 1 0 0 1
CR2, LOC126805994 0 0 1 0 0 0 1
CREB3L1 0 0 1 0 0 0 1
CREB3L3, LOC125371455 0 0 0 0 1 0 1
CREBBP, LOC130058353 0 0 1 0 0 0 1
CREBBP, LOC130058357 0 0 1 0 0 0 1
CRLF1 0 0 1 0 0 0 1
CRPPA 0 0 0 1 0 0 1
CRTAP, LOC129936436 0 0 0 1 0 0 1
CRYBA1 0 0 0 1 0 0 1
CRYBA4, CRYBB1 0 0 0 1 0 0 1
CRYBB3 0 0 0 1 0 0 1
CRYGS 0 0 1 0 0 0 1
CRYM, LOC130058620 0 0 1 0 0 0 1
CSF1R, LOC111188154 0 0 1 0 0 0 1
CSF2RA 0 0 1 0 0 0 1
CSF2RB 0 0 1 0 0 0 1
CSNK2A1 0 0 0 1 0 0 1
CST3, LOC130065547 0 0 0 0 1 0 1
CSTB 1 0 0 0 0 0 1
CSTB, LOC130066788 0 0 0 0 1 0 1
CTBP1 0 0 0 1 0 0 1
CTC1, PFAS 1 0 0 0 0 0 1
CTF1, LOC130058878 0 0 1 0 0 0 1
CTNND2 0 0 1 0 0 0 1
CTPS1, LOC126805717 0 0 1 0 0 0 1
CTRC 0 0 1 0 0 0 1
CTSC, LOC130006572 0 0 1 0 0 0 1
CTSD, LOC130005119 0 0 1 0 0 0 1
CWF19L1 0 0 0 0 1 0 1
CYC1 0 0 0 1 0 0 1
CYLD 1 0 0 0 0 0 1
CYP11B1, CYP11B2 1 0 0 0 0 0 1
CYP17A1, LOC110408762 0 0 1 0 0 0 1
CYP1B1, LOC128772254 0 0 0 1 0 0 1
CYP21A2 0 0 1 0 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 0 1
CYP21A2, TNXB 0 0 0 0 1 0 1
CYP2R1, LOC130005371 0 0 0 1 0 0 1
CYP4V2 0 1 0 0 0 0 1
DBH 0 0 1 0 0 0 1
DCAF8 0 0 0 1 0 0 1
DDB2 1 0 0 0 0 0 1
DDR2 0 0 1 0 0 0 1
DDX11 1 0 0 0 0 0 1
DENND5A, LOC130005268 0 0 0 1 0 0 1
DGAT1 1 0 0 0 0 0 1
DHX38, LOC126862391 0 0 1 0 0 0 1
DIABLO 0 0 0 0 1 0 1
DLC1, LOC126860305 0 0 0 1 0 0 1
DLGAP4, MYL9 0 0 1 0 0 0 1
DLL1 0 0 1 0 0 0 1
DLL4 0 0 1 0 0 0 1
DLX3 0 1 0 0 0 0 1
DLX4 0 0 0 1 0 0 1
DNAAF3, LOC130065090 0 0 0 1 0 0 1
DNAAF5, LOC129997731, PRKAR1B 0 0 1 0 0 0 1
DNAH17 0 0 0 1 0 0 1
DNAH5, LOC107457585 0 0 1 0 0 0 1
DNAJB13 0 0 0 1 0 0 1
DNAJB2 0 0 1 0 0 0 1
DNAJC5 0 0 0 1 0 0 1
DNAJC6 0 0 0 1 0 0 1
DNAL1 0 0 1 0 0 0 1
DNM1, LOC113839516 0 0 0 1 0 0 1
DOCK3 0 0 1 0 0 0 1
DOK7, LOC126806951 0 0 1 0 0 0 1
DPAGT1 0 0 0 1 0 0 1
DPAGT1, LOC126861360 0 0 1 0 0 0 1
DPF2 0 0 0 1 0 0 1
DYM 0 1 0 0 0 0 1
DYNC1H1, LOC126862060 0 0 1 0 0 0 1
DYNC2I2 0 1 0 0 0 0 1
ECEL1 0 0 0 1 0 0 1
EFEMP1 0 0 0 0 1 0 1
EFEMP2, MUS81 0 0 1 0 0 0 1
EFL1 0 0 0 1 0 0 1
EGF, LOC129992959 0 0 1 0 0 0 1
EIF2B5, LOC129938041 0 0 1 0 0 0 1
ELMO2 0 0 0 1 0 0 1
ELP4, PAX6 1 0 0 0 0 0 1
EMP2 0 0 1 0 0 0 1
EPB41 0 0 0 1 0 0 1
EPX 0 0 0 1 0 0 1
ERCC2, KLC3 0 0 0 1 0 0 1
ERCC6, ERCC6-PGBD3 0 0 1 0 0 0 1
ERCC6, LOC126860933 1 0 0 0 0 0 1
ERCC8, NDUFAF2 1 0 0 0 0 0 1
ERF 1 0 0 0 0 0 1
ESR1, SYNE1 0 0 1 0 0 0 1
EXOC8 0 0 0 1 0 0 1
EXOSC8 0 0 0 1 0 0 1
EXT2, LOC126861201 1 0 0 0 0 0 1
F13A1 0 0 1 0 0 0 1
F13B 0 0 1 0 0 0 1
F2 0 0 0 0 1 0 1
FA2H 0 0 1 0 0 0 1
FAAH 0 0 0 1 0 0 1
FAM111A 0 0 0 0 1 0 1
FAR1 0 0 0 1 0 0 1
FARS2, LOC129995672, LYRM4 0 0 0 1 0 0 1
FASLG 0 0 1 0 0 0 1
FASTKD2, LOC129935479 0 0 0 1 0 0 1
FAT2 0 0 0 1 0 0 1
FBLN1 0 0 0 1 0 0 1
FBN1, LOC130057019 0 0 1 0 0 0 1
FBP1 0 0 0 0 1 0 1
FBXO38 0 0 0 1 0 0 1
FCHO1 0 0 0 1 0 0 1
FDXR 1 0 0 0 0 0 1
FEZF1 0 0 0 1 0 0 1
FGB 0 0 0 1 0 0 1
FGD1 0 0 0 1 0 0 1
FGD1, TSR2 1 0 0 0 0 0 1
FGF10 0 0 0 1 0 0 1
FGF3, LOC109115964 0 0 1 0 0 0 1
FGF8 0 1 0 0 0 0 1
FGFRL1 0 0 0 1 0 0 1
FKBP14 1 0 0 0 0 0 1
FLAD1 0 0 0 1 0 0 1
FLNA, LOC107988032 0 0 0 0 1 0 1
FLNB, LOC129936935 0 0 0 0 1 0 1
FMR1, LOC107032825 0 0 0 1 0 0 1
FN1, LOC126806499 0 0 0 1 0 0 1
FNDC8, LOC130060715, RAD51D, RAD51L3-RFFL 0 0 1 0 0 0 1
FOXE1 0 0 0 1 0 0 1
FOXE3, LINC01389 0 0 0 0 1 0 1
FOXF1 0 0 0 1 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 0 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 0 1 0 0 1
FRAS1, LOC126807088 0 0 0 1 0 0 1
FREM2, LOC130009588 0 0 0 1 0 0 1
FRMD7 1 0 0 0 0 0 1
FTSJ1 0 0 1 0 0 0 1
FUCA1, LOC126805661 0 0 1 0 0 0 1
FUT2, LOC105447645 0 0 0 0 1 0 1
FUZ 0 0 0 1 0 0 1
FXR1 0 0 0 1 0 0 1
FZD4 0 0 0 1 0 0 1
FZD4, PRSS23 1 0 0 0 0 0 1
G6PC3 0 0 0 1 0 0 1
G6PD, IKBKG 0 1 0 0 0 0 1
GABRA1 0 1 0 0 0 0 1
GABRA5 0 0 0 1 0 0 1
GALC, LOC130056217 0 0 0 1 0 0 1
GALNT2 0 0 0 1 0 0 1
GALT, LOC130001683 0 0 1 0 0 0 1
GATA3, LOC130003278 0 0 1 0 0 0 1
GATAD2B 0 0 0 1 0 0 1
GBF1 0 0 1 0 0 0 1
GCDH, KLF1, LOC117125594 1 0 0 0 0 0 1
GCDH, LOC117125594 0 1 0 0 0 0 1
GCSH, LOC130059495 0 0 1 0 0 0 1
GDF3 0 0 0 1 0 0 1
GDF5 0 0 1 0 0 0 1
GDF6 0 0 0 1 0 0 1
GDI1 0 0 0 1 0 0 1
GEMIN5 0 0 0 1 0 0 1
GFI1B 0 0 1 0 0 0 1
GFM2 0 0 0 1 0 0 1
GGCX 0 0 1 0 0 0 1
GHRL, GHRLOS 0 0 0 1 0 0 1
GJA3 0 0 0 1 0 0 1
GJA5 0 0 1 0 0 0 1
GJA8 0 0 0 1 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 0 1
GLE1, LOC101929270 0 0 0 1 0 0 1
GLUD1 1 0 0 0 0 0 1
GNAL 0 0 0 1 0 0 1
GNB1 0 0 0 1 0 0 1
GOSR2, LOC126862578, LRRC37A2 0 0 0 1 0 0 1
GPC4 0 0 0 0 1 0 1
GPI 0 0 0 0 1 0 1
GPR143 0 0 1 0 0 0 1
GPX1 0 0 0 0 1 0 1
GRIA2 0 0 0 1 0 0 1
GRIA4 0 0 1 0 0 0 1
GRIK2 0 0 0 1 0 0 1
GRIN2D 0 0 0 1 0 0 1
GRM6 0 0 0 1 0 0 1
GRM6, ZNF454 0 0 0 1 0 0 1
GRXCR1 0 1 0 0 0 0 1
GRXCR2 0 0 1 0 0 0 1
GTF2H5 0 0 1 0 0 0 1
GUSB, LOC126860055 0 1 0 0 0 0 1
GYS1 0 0 1 0 0 0 1
HACE1 0 0 0 0 1 0 1
HADH, LOC129992931 0 0 1 0 0 0 1
HADHA, HADHB 0 0 1 0 0 0 1
HARS1 0 0 0 0 1 0 1
HAVCR2 0 0 1 0 0 0 1
HBA1, HBA2, LOC106804612 0 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HCN4, LOC105370890 0 0 1 0 0 0 1
HDAC6 0 0 0 1 0 0 1
HELLS 0 0 0 1 0 0 1
HHAT 0 0 0 1 0 0 1
HIBCH 0 0 0 1 0 0 1
HMGA2 0 0 0 1 0 0 1
HMGCS2 0 0 0 1 0 0 1
HMOX1 0 0 0 1 0 0 1
HNRNPA1 0 0 0 1 0 0 1
HNRNPK 0 1 0 0 0 0 1
HOXB1 0 0 0 1 0 0 1
HPS1, MIR4685 1 0 0 0 0 0 1
HPS5, LOC130005404 0 0 1 0 0 0 1
HS2ST1 0 0 0 0 1 0 1
HS6ST2 0 0 0 1 0 0 1
HSALR1, LOC130059751, PIEZO1 0 0 0 1 0 0 1
HSD17B10 0 0 1 0 0 0 1
HSERVPRODH, PRODH 0 0 1 0 0 0 1
HSPA9 0 0 0 1 0 0 1
HSPG2, LOC126805655 0 0 1 0 0 0 1
HTRA1 0 0 1 0 0 0 1
HTT, LOC109461479, LOC129929027 0 0 0 1 0 0 1
IARS1 0 0 1 0 0 0 1
IBA57 0 0 1 0 0 0 1
IDS, LOC106050102 0 0 0 1 0 0 1
IFITM5 0 0 1 0 0 0 1
IGF1R, IRAIN 0 0 0 1 0 0 1
IGF2, INS-IGF2 0 1 0 0 0 0 1
IGSF1 0 0 0 1 0 0 1
IHH 0 0 0 1 0 0 1
IKBKG 1 0 0 0 0 0 1
IL17RA, LOC129391259 0 0 0 1 0 0 1
IL17RC 0 0 1 0 0 0 1
IL17RC, LOC129936143 0 0 0 1 0 0 1
IL18BP 0 0 0 1 0 0 1
IL18BP, NUMA1 0 0 0 1 0 0 1
IL21R 0 0 1 0 0 0 1
IL21R, LOC130058713 0 0 1 0 0 0 1
INF2, LOC130056630 0 0 1 0 0 0 1
INPPL1 0 0 0 1 0 0 1
INS, TH 0 0 0 1 0 0 1
INSL3 0 0 1 0 0 0 1
IRAK4 0 0 0 1 0 0 1
IRF3 0 0 0 1 0 0 1
IRF6 1 0 0 0 0 0 1
IRS1 0 0 0 1 0 0 1
ITGB3 0 0 1 0 0 0 1
ITK 0 0 1 0 0 0 1
ITM2B, LOC130009752 0 0 1 0 0 0 1
ITPR1, LOC126806590 0 0 1 0 0 0 1
ITPR2 0 0 0 1 0 0 1
JAM3 0 0 0 0 1 0 1
JMJD8, STUB1 0 0 0 1 0 0 1
JPH3 0 0 0 1 0 0 1
KANSL1, MAPT 0 0 0 0 1 0 1
KAT5, RNASEH2C 0 0 0 0 1 0 1
KCNC3, LOC130064972 0 0 1 0 0 0 1
KCNH5 0 0 1 0 0 0 1
KCNJ18 0 0 1 0 0 0 1
KCNK9 0 0 1 0 0 0 1
KCNN3 0 0 0 0 1 0 1
KCNN4 0 0 0 1 0 0 1
KCNQ5 0 0 0 1 0 0 1
KCTD17 0 0 1 0 0 0 1
KCTD7 0 0 1 0 0 0 1
KDM1A 0 0 0 1 0 0 1
KDM3B 0 1 0 0 0 0 1
KDM5B 0 0 0 1 0 0 1
KDM5B, LOC129932249 0 0 1 0 0 0 1
KDM6B 0 0 0 1 0 0 1
KIF2A 0 0 0 1 0 0 1
KIF4A 0 0 0 1 0 0 1
KIFBP, LOC130003959 0 0 0 1 0 0 1
KITLG 0 0 0 1 0 0 1
KLF1 0 0 0 1 0 0 1
KLF11, LOC128897170 0 0 1 0 0 0 1
KLHL10 0 0 0 1 0 0 1
KLHL40 0 0 1 0 0 0 1
KMT5B 0 0 0 1 0 0 1
KPNA7 0 0 1 0 0 0 1
KPTN 1 0 0 0 0 0 1
KREMEN1 0 0 0 0 1 0 1
KRIT1 1 0 0 0 0 0 1
KRT1 0 1 0 0 0 0 1
KRT2 0 0 0 0 1 0 1
KRT5, LOC126861526 0 0 0 0 1 0 1
KRT6C 0 1 0 0 0 0 1
KRT83 0 0 0 1 0 0 1
LAGE3 0 0 0 0 1 0 1
LAMB3, LOC126805999 0 0 1 0 0 0 1
LARS1 0 0 0 1 0 0 1
LARS1, LOC129389388 0 0 0 1 0 0 1
LAT 0 0 0 1 0 0 1
LDB3, LOC110121486 0 0 1 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 1
LDLR, MIR6886 1 0 0 0 0 0 1
LEMD3 0 0 0 1 0 0 1
LHB 0 0 0 0 1 0 1
LHX4 0 0 0 1 0 0 1
LIAS 0 0 1 0 0 0 1
LIPC 0 0 0 1 0 0 1
LIPT1, MITD1 1 0 0 0 0 0 1
LMF1, LOC130058141 0 0 0 1 0 0 1
LMNB1 0 0 0 1 0 0 1
LMOD3 0 0 1 0 0 0 1
LOC100128494, NUMA1 0 0 0 1 0 0 1
LOC101928008, SBF2 0 0 1 0 0 0 1
LOC105369149, SBF2 0 0 0 1 0 0 1
LOC106694315, MPO 0 1 0 0 0 0 1
LOC106694316, MPO 1 0 0 0 0 0 1
LOC107548112, REN 0 1 0 0 0 0 1
LOC107648851, TAP2 0 0 1 0 0 0 1
LOC108281134, SOX3 0 0 0 0 1 0 1
LOC108903148, OPTN 0 0 0 0 1 0 1
LOC110120845, PAX2 0 1 0 0 0 0 1
LOC111413029, TAT 0 0 1 0 0 0 1
LOC112469011, USB1 0 0 1 0 0 0 1
LOC112577517, TOR1AIP1 0 0 0 1 0 0 1
LOC113788297, NDUFAF6 0 0 0 1 0 0 1
LOC113875008, OCRL 0 0 0 1 0 0 1
LOC113960611, SLC12A5 0 0 1 0 0 0 1
LOC114803470, SCN8A 0 0 0 1 0 0 1
LOC121627876, LTBP4 0 0 0 1 0 0 1
LOC121815974, OAT 0 0 1 0 0 0 1
LOC121852963, RNF125 0 0 1 0 0 0 1
LOC122756382, LPIN1 0 0 1 0 0 0 1
LOC123477793, PPP3CA 0 0 0 1 0 0 1
LOC125418060, MRAP 0 0 0 1 0 0 1
LOC126057105, TBL1Y 0 0 0 1 0 0 1
LOC126653398, TSPEAR 0 0 1 0 0 0 1
LOC126805616, PEX14 0 0 1 0 0 0 1
LOC126805704, SNIP1 0 0 1 0 0 0 1
LOC126805821, SARS1 0 0 0 1 0 0 1
LOC126805851, RBM8A 0 0 0 1 0 0 1
LOC126806462, SATB2 0 0 1 0 0 0 1
LOC126806529, PAX3 0 0 1 0 0 0 1
LOC126806630, THRB 1 0 0 0 0 0 1
LOC126807073, SLC4A4 0 0 1 0 0 0 1
LOC126807101, WDFY3 0 0 0 1 0 0 1
LOC126807323, TRIO 0 0 1 0 0 0 1
LOC126807509, UQCRQ 0 0 1 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 0 1
LOC126859861, PLG 0 0 0 0 1 0 1
LOC126860131, RELN 0 0 1 0 0 0 1
LOC126860469, ZFPM2 0 0 0 1 0 0 1
LOC126860498, WASHC5 0 0 0 1 0 0 1
LOC126860792, PMPCA 0 0 0 1 0 0 1
LOC126860794, NOTCH1 0 0 1 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 0 0 0 1
LOC126861443, MFAP5 0 0 0 1 0 0 1
LOC126861467, PTPRO 0 0 0 1 0 0 1
LOC126861752, TNFSF11 0 0 0 1 0 0 1
LOC126861831, NALCN 0 0 0 1 0 0 1
LOC126861936, NIN 0 0 0 1 0 0 1
LOC126862278, RBFOX1 0 0 1 0 0 0 1
LOC126862279, RBFOX1 0 0 1 0 0 0 1
LOC126862663, RNF213 0 0 0 1 0 0 1
LOC126862983, MGME1 0 0 0 1 0 0 1
LOC126863160, NAGA 0 0 1 0 0 0 1
LOC126863212, OFD1 0 0 1 0 0 0 1
LOC128092249, PCNT 0 0 1 0 0 0 1
LOC129390683, SLC12A6 0 1 0 0 0 0 1
LOC129930352, P3H1 1 0 0 0 0 0 1
LOC129931894, SLC19A2 0 0 1 0 0 0 1
LOC129935185, TTN 0 0 0 1 0 0 1
LOC129935618, WNT10A 0 0 1 0 0 0 1
LOC129935619, WNT10A 0 0 1 0 0 0 1
LOC129936399, TGFBR2 0 0 1 0 0 0 1
LOC129936665, SETD2 0 0 1 0 0 0 1
LOC129936736, QARS1 0 0 1 0 0 0 1
LOC129936883, RFT1 0 0 1 0 0 0 1
LOC129936949, PDHB 0 0 1 0 0 0 1
LOC129992137, MSX1 0 0 0 1 0 0 1
LOC129992244, SLC2A9 0 0 0 1 0 0 1
LOC129992304, QDPR 0 0 0 0 1 0 1
LOC129993501, SLC25A4 0 0 1 0 0 0 1
LOC129994569, MIR3936HG, SLC22A5 0 0 0 1 0 0 1
LOC129994988, TCOF1 0 0 0 1 0 0 1
LOC129996517, POLR1C 0 0 1 0 0 0 1
LOC129997052, RSPH4A 1 0 0 0 0 0 1
LOC129997480, SYNE1 0 0 0 1 0 0 1
LOC129998225, RP9 0 0 1 0 0 0 1
LOC129998720, MAGI2 0 0 1 0 0 0 1
LOC129998833, SLC25A13 0 0 1 0 0 0 1
LOC129999660, PRKAG2 0 0 1 0 0 0 1
LOC130000896, RRM2B 0 1 0 0 0 0 1
LOC130001338, PLEC 0 0 0 1 0 0 1
LOC130001411, RECQL4 0 0 1 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 1
LOC130002223, TGFBR1 0 0 1 0 0 0 1
LOC130003020, NOTCH1 0 0 1 0 0 0 1
LOC130003079, MAN1B1 0 0 1 0 0 0 1
LOC130004109, VCL 0 0 1 0 0 0 1
LOC130004274, PTEN 0 0 1 0 0 0 1
LOC130004408, TCTN3 0 1 0 0 0 0 1
LOC130005193, SMPD1 0 0 1 0 0 0 1
LOC130006062, RNASEH2C 0 0 0 1 0 0 1
LOC130006765, PTS 0 1 0 0 0 0 1
LOC130009366, SACS 0 0 0 1 0 0 1
LOC130009585, UFM1 1 0 0 0 0 0 1
LOC130009810, RNASEH2B 0 0 1 0 0 0 1
LOC130055850, MAX 0 0 1 0 0 0 1
LOC130056519, TECPR2 0 0 1 0 0 0 1
LOC130058210, TSC2 0 0 1 0 0 0 1
LOC130058907, SLC5A2 0 1 0 0 0 0 1
LOC130059554, MLYCD 0 1 0 0 0 0 1
LOC130060544, TMEM199 0 0 0 1 0 0 1
LOC130060573, NEK8 0 0 0 1 0 0 1
LOC130060903, NAGLU 0 1 0 0 0 0 1
LOC130063807, NOTCH3 0 0 1 0 0 0 1
LOC130064702, RTN2 0 0 0 0 1 0 1
LOC130064709, OPA3 0 0 0 0 1 0 1
LOC130065678, SNTA1 0 0 1 0 0 0 1
LOC130065679, SNTA1 0 0 1 0 0 0 1
LOC130065998, TP53RK, TP53RK-DT 0 0 1 0 0 0 1
LOC130067862, TYMP 0 0 1 0 0 0 1
LOC130068202, RP2 0 0 1 0 0 0 1
LOC130068621, NDUFA1 0 0 0 1 0 0 1
LOC130068854, MECP2 0 0 0 1 0 0 1
LONP1 0 0 0 1 0 0 1
LRAT 0 0 1 0 0 0 1
LRRK1 0 0 0 1 0 0 1
LRTOMT, TOMT 0 0 1 0 0 0 1
MADD 0 0 0 0 1 0 1
MAG 0 0 0 1 0 0 1
MAGED2 0 0 0 1 0 0 1
MAGT1 0 0 0 1 0 0 1
MAK 0 0 1 0 0 0 1
MAP3K20 0 0 0 1 0 0 1
MARS1 0 0 1 0 0 0 1
MARS2 0 0 0 0 1 0 1
MAST1 0 0 0 1 0 0 1
MBL2 0 0 0 1 0 0 1
MBOAT7, TSEN34 0 0 0 1 0 0 1
MCIDAS 0 0 0 1 0 0 1
MCM3AP 0 0 0 1 0 0 1
MCM4 0 0 1 0 0 0 1
MCM9 0 0 0 1 0 0 1
MCOLN1, PNPLA6 0 0 0 1 0 0 1
MDH2 0 0 0 1 0 0 1
MECOM 0 0 0 1 0 0 1
MFSD2A 0 0 0 1 0 0 1
MILR1, POLG2 0 0 0 0 1 0 1
MIPEP 0 0 1 0 0 0 1
MIR1225, NTHL1, PKD1, TSC2 1 0 0 0 0 0 1
MIR6511B1, PKD1 0 1 0 0 0 0 1
MIR6766, POLG, POLGARF 0 0 0 0 1 0 1
MLPH 0 0 0 1 0 0 1
MLYCD 0 0 1 0 0 0 1
MMAB, MVK 0 0 1 0 0 0 1
MMACHC, PRDX1 1 0 0 0 0 0 1
MMP1 0 0 0 1 0 0 1
MMP13 0 0 0 1 0 0 1
MMP19 0 0 0 1 0 0 1
MMP21 0 0 0 1 0 0 1
MMP9, SLC12A5 0 0 1 0 0 0 1
MPDU1 0 0 1 0 0 0 1
MPZ, SDHC 0 0 0 0 1 0 1
MRAP2 0 0 0 1 0 0 1
MRPL36, NDUFS6 0 0 1 0 0 0 1
MRPL44 0 0 0 1 0 0 1
MRPS22 0 1 0 0 0 0 1
MS4A1 0 0 1 0 0 0 1
MST1R 0 0 0 1 0 0 1
MSTO1 0 0 0 1 0 0 1
MT-CYB 0 0 1 0 0 0 1
MTMR14 0 0 1 0 0 0 1
MTPAP 0 0 1 0 0 0 1
MTRFR 1 0 0 0 0 0 1
MYL1 0 0 0 0 1 0 1
MYL9 0 0 1 0 0 0 1
MYO1A 0 0 1 0 0 0 1
MYO9B 0 0 0 1 0 0 1
MYRF 0 0 1 0 0 0 1
MYSM1 0 0 0 0 1 0 1
NAA10 0 0 0 1 0 0 1
NADK2 0 0 1 0 0 0 1
NADSYN1 0 0 0 1 0 0 1
NCAPG2 0 0 0 1 0 0 1
NCR1, NLRP7 0 1 0 0 0 0 1
NDUFA11 0 0 1 0 0 0 1
NDUFAF1 0 0 1 0 0 0 1
NDUFAF2 0 1 0 0 0 0 1
NDUFAF3 0 1 0 0 0 0 1
NDUFB11 1 0 0 0 0 0 1
NDUFB3 0 1 0 0 0 0 1
NDUFS2 0 0 0 1 0 0 1
NDUFV2 0 0 0 0 1 0 1
NEFH 0 0 0 0 1 0 1
NFIA 1 0 0 0 0 0 1
NFKB2 0 0 0 1 0 0 1
NFKBIA 0 0 0 1 0 0 1
NHEJ1 0 0 1 0 0 0 1
NHP2 0 0 1 0 0 0 1
NKAP 0 1 0 0 0 0 1
NKIRAS1, RPL15 0 0 1 0 0 0 1
NLRP7 0 0 0 1 0 0 1
NMNAT1 1 0 0 0 0 0 1
NOBOX 0 0 0 1 0 0 1
NONO 0 0 0 1 0 0 1
NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
NR1H4 0 0 1 0 0 0 1
NR2F2 0 0 0 1 0 0 1
NRAS 0 0 1 0 0 0 1
NSD2 0 0 0 1 0 0 1
NSMF 0 0 0 1 0 0 1
NTHL1, TSC2 0 0 1 0 0 0 1
NUP107 0 0 0 1 0 0 1
OCLN 0 0 0 1 0 0 1
OPTN 0 0 0 1 0 0 1
OSGEP 0 0 1 0 0 0 1
OSTM1 0 0 0 1 0 0 1
OTUD6B 0 0 0 1 0 0 1
P2RX2 0 0 0 1 0 0 1
P4HA2 0 0 0 1 0 0 1
P4HB 0 0 0 1 0 0 1
PACRG, PRKN 0 1 0 0 0 0 1
PAK1 0 1 0 0 0 0 1
PARN 0 0 1 0 0 0 1
PAX8 0 0 0 1 0 0 1
PDE10A 0 0 0 1 0 0 1
PDE11A 0 0 0 1 0 0 1
PDE1C 0 0 0 1 0 0 1
PDE3A 0 0 0 1 0 0 1
PDE4D 0 0 0 0 1 0 1
PDGFRB 0 0 1 0 0 0 1
PDK3 0 0 0 0 1 0 1
PDXK 0 0 0 1 0 0 1
PDYN 0 0 0 1 0 0 1
PDZD9, UQCRC2 0 0 0 1 0 0 1
PEX13, PUS10 0 0 1 0 0 0 1
PEX3 0 0 1 0 0 0 1
PHC1 0 0 1 0 0 0 1
PHKA1 0 0 1 0 0 0 1
PI4KA 0 0 1 0 0 0 1
PIGT 0 0 0 1 0 0 1
PKD1, TSC2 0 0 1 0 0 0 1
PLA2G4A 0 0 0 1 0 0 1
PLEKHM1 0 0 1 0 0 0 1
PLIN1 0 0 1 0 0 0 1
PLOD3 0 0 0 1 0 0 1
PLPBP 1 0 0 0 0 0 1
PMPCB 0 0 0 1 0 0 1
PMS1 0 0 0 1 0 0 1
PNPLA1 0 0 0 1 0 0 1
PNPLA8 0 0 0 0 1 0 1
POF1B 0 0 0 1 0 0 1
POLH, POLR1C 0 0 0 1 0 0 1
PORCN 1 0 0 0 0 0 1
POU1F1 0 0 1 0 0 0 1
POU3F4 0 0 1 0 0 0 1
PPARG 0 0 0 0 1 0 1
PPOX 0 0 0 1 0 0 1
PPP1CB 0 0 0 1 0 0 1
PQBP1, SLC35A2 0 0 1 0 0 0 1
PREPL 0 1 0 0 0 0 1
PRG4 0 1 0 0 0 0 1
PRMT7 0 1 0 0 0 0 1
PROK2 0 0 0 1 0 0 1
PRPF3 0 0 0 1 0 0 1
PRPF6 0 0 0 0 1 0 1
PRPH, TROAP 0 0 0 0 1 0 1
PRPH2 0 0 0 1 0 0 1
PRSS56 0 0 1 0 0 0 1
PSMB8 0 0 1 0 0 0 1
PTCHD1 0 0 1 0 0 0 1
PTPRJ 0 0 0 0 1 0 1
PUS1 0 0 0 1 0 0 1
RAB11B 0 0 0 1 0 0 1
RAB18 0 0 0 0 1 0 1
RAC1 0 0 0 1 0 0 1
RAC3 0 1 0 0 0 0 1
RANGRF, SLC25A35 0 0 1 0 0 0 1
RBFOX1 0 0 1 0 0 0 1
RD3 0 0 1 0 0 0 1
RELB 0 0 0 1 0 0 1
REPS1 0 0 0 1 0 0 1
REST 0 0 0 1 0 0 1
RFXANK 0 0 0 1 0 0 1
RGR 0 0 1 0 0 0 1
RGS9BP 0 0 1 0 0 0 1
RHAG 0 0 0 0 1 0 1
RHOBTB2 0 0 0 1 0 0 1
RHOH 0 0 0 1 0 0 1
RIC3, TUB 0 0 1 0 0 0 1
RIPK4 0 0 0 1 0 0 1
RNF125 0 0 0 1 0 0 1
RNF216 0 0 0 1 0 0 1
ROBO4 0 0 0 1 0 0 1
ROR1 0 0 0 1 0 0 1
RORA 0 0 0 1 0 0 1
RPS29 0 0 0 1 0 0 1
RSPH3 0 0 0 1 0 0 1
RSPH3, TAGAP 0 0 1 0 0 0 1
RSPO1 0 0 1 0 0 0 1
RTN4IP1 0 0 1 0 0 0 1
RUSC2 0 0 0 1 0 0 1
RUVBL1, SEC61A1 0 0 0 1 0 0 1
SAR1B 0 0 0 0 1 0 1
SARS1 0 0 0 1 0 0 1
SCAPER 0 0 0 1 0 0 1
SCP2 0 0 0 1 0 0 1
SCYL1 0 0 0 1 0 0 1
SEMA6B 0 0 0 1 0 0 1
SERPINH1 0 0 1 0 0 0 1
SERPINI1 0 0 1 0 0 0 1
SETD1A 0 0 0 1 0 0 1
SF3B1 0 1 0 0 0 0 1
SF3B4 0 0 0 1 0 0 1
SFTPA1 0 0 1 0 0 0 1
SGO1 1 0 0 0 0 0 1
SGPL1 0 0 0 1 0 0 1
SGSH, SLC26A11 1 0 0 0 0 0 1
SH3KBP1 0 0 0 1 0 0 1
SHPK 0 0 0 1 0 0 1
SHROOM4 0 0 0 1 0 0 1
SIGMAR1 0 0 0 1 0 0 1
SIK3 0 0 0 1 0 0 1
SLA, TG 0 0 1 0 0 0 1
SLC24A1 1 0 0 0 0 0 1
SLC25A12 0 0 1 0 0 0 1
SLC25A24 1 0 0 0 0 0 1
SLC25A32 0 0 0 1 0 0 1
SLC39A14 0 0 0 1 0 0 1
SLC45A1 0 0 1 0 0 0 1
SLC5A6 0 0 0 1 0 0 1
SLC9A1 0 0 0 1 0 0 1
SLC9A9 0 0 0 1 0 0 1
SMAD2 0 0 0 0 1 0 1
SMARCB1 1 0 0 0 0 0 1
SMARCD2 0 0 0 1 0 0 1
SMG9 0 0 0 1 0 0 1
SMN1 0 0 1 0 0 0 1
SMO 0 0 0 1 0 0 1
SMOC1 0 0 0 1 0 0 1
SNX10 0 0 0 1 0 0 1
SNX14 0 0 1 0 0 0 1
SOD1, SOD1-DT 1 0 0 0 0 0 1
SOX3 0 0 0 1 0 0 1
SOX9 0 0 0 1 0 0 1
SPARC 0 0 1 0 0 0 1
SPART 0 0 1 0 0 0 1
SPEG 0 0 1 0 0 0 1
SPEN 0 0 0 1 0 0 1
SPNS2 0 0 0 1 0 0 1
SPRED1 0 0 1 0 0 0 1
SRGAP1 0 0 0 1 0 0 1
STAC3 1 0 0 0 0 0 1
STAG1 0 0 0 1 0 0 1
STAT1 0 0 1 0 0 0 1
STAT2 0 0 1 0 0 0 1
STAT3 0 0 0 0 1 0 1
STT3A 0 0 0 1 0 0 1
STT3B 0 0 0 1 0 0 1
SUCLA2 0 0 1 0 0 0 1
SUGCT 1 0 0 0 0 0 1
SULF1 0 0 1 0 0 0 1
SYN3, TIMP3 1 0 0 0 0 0 1
SYNE4 0 0 1 0 0 0 1
TAB2 0 0 0 1 0 0 1
TACSTD2 0 0 1 0 0 0 1
TANGO2 0 0 0 1 0 0 1
TARS1 0 0 0 1 0 0 1
TARS2 0 0 0 1 0 0 1
TBL1XR1 0 0 0 1 0 0 1
TBR1 0 0 0 0 1 0 1
TBX18 0 0 0 0 1 0 1
TBX2 0 0 0 1 0 0 1
TBX3 0 0 0 1 0 0 1
TCF12 0 0 0 1 0 0 1
TCN2 0 0 1 0 0 0 1
TDP1 0 0 1 0 0 0 1
TECR 0 0 0 1 0 0 1
TGDS 1 0 0 0 0 0 1
TGFB2, TGFB2-OT1 0 0 1 0 0 0 1
TGIF1 0 0 1 0 0 0 1
TGM6 0 0 0 1 0 0 1
TIRAP 0 0 0 0 1 0 1
TLR2 0 0 0 1 0 0 1
TMEM218 0 1 0 0 0 0 1
TMEM237 0 0 0 1 0 0 1
TMEM38B 0 0 0 1 0 0 1
TNFRSF11B 0 0 1 0 0 0 1
TNFRSF1A 0 0 1 0 0 0 1
TNIK 0 0 0 1 0 0 1
TNNI2 0 1 0 0 0 0 1
TNNT1 0 0 0 1 0 0 1
TOP2B 0 0 0 1 0 0 1
TOR1AIP1 0 0 0 1 0 0 1
TP53BP1, TUBGCP4 0 0 0 1 0 0 1
TPM3 0 0 0 1 0 0 1
TPRKB 0 0 0 1 0 0 1
TRAF3IP1 0 0 0 1 0 0 1
TRAPPC12 0 0 0 1 0 0 1
TRIM37 0 0 0 1 0 0 1
TRIP12 0 0 1 0 0 0 1
TRIP4 0 0 0 1 0 0 1
TRMT1 0 1 0 0 0 0 1
TRMT10A 0 0 1 0 0 0 1
TRMT5 0 0 0 1 0 0 1
TRPM7 0 0 0 0 1 0 1
TRPV6 0 0 0 1 0 0 1
TSEN34 0 0 1 0 0 0 1
TSPAN7 0 0 0 1 0 0 1
TUBB3 0 0 1 0 0 0 1
TUBG1 0 0 0 1 0 0 1
TUBGCP2 0 0 0 0 1 0 1
TUBGCP4 0 0 1 0 0 0 1
TUFM 0 0 0 1 0 0 1
TULP1 0 1 0 0 0 0 1
TUSC3 0 0 0 1 0 0 1
TXN2 0 0 0 1 0 0 1
TYROBP 0 0 0 1 0 0 1
UBQLN2 0 0 0 1 0 0 1
UFM1 0 0 0 1 0 0 1
UFSP2 0 0 0 1 0 0 1
UNC119 0 0 1 0 0 0 1
USP7 0 0 0 0 1 0 1
USP8 0 0 1 0 0 0 1
VARS2 0 1 0 0 0 0 1
VCP 1 0 0 0 0 0 1
VIPAS39 0 0 1 0 0 0 1
VPS11 0 0 1 0 0 0 1
VPS13C 0 0 0 1 0 0 1
VPS13D 0 0 0 1 0 0 1
VSX2 0 0 1 0 0 0 1
WDFY3 0 0 0 1 0 0 1
WDR11 0 0 0 1 0 0 1
WDR26 0 0 0 1 0 0 1
WDR4 0 0 0 1 0 0 1
WDR45B 0 0 0 1 0 0 1
WNT1 0 0 0 1 0 0 1
XIAP 0 0 1 0 0 0 1
XK 0 0 1 0 0 0 1
YARS2 0 1 0 0 0 0 1
YEATS2 0 0 0 1 0 0 1
YWHAG 0 0 0 1 0 0 1
ZBTB20 0 0 0 1 0 0 1
ZBTB24 0 0 0 0 1 0 1
ZC3H14 0 0 0 1 0 0 1
ZCCHC8 0 0 0 1 0 0 1
ZDHHC9 0 0 1 0 0 0 1
ZFHX4 0 0 0 1 0 0 1
ZFP57 0 0 0 1 0 0 1
ZFPM2 0 0 0 1 0 0 1
ZIC3 0 0 1 0 0 0 1
ZMYM2 0 0 0 1 0 0 1
ZMYND11 0 0 0 1 0 0 1
ZNF142 0 0 0 1 0 0 1
ZNF292 0 0 0 1 0 0 1
ZNF335 0 0 1 0 0 0 1
ZNF513 0 0 1 0 0 0 1
ZNHIT3 0 0 0 1 0 0 1
ZP3 0 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 2876
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 15 55 1057 140 18 0 1285
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 0 324 247 16 0 587
Alstrom syndrome 23 30 415 88 3 0 559
Polycystic kidney disease, adult type 158 34 157 142 16 0 507
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 14 28 394 38 24 0 498
Donnai-Barrow syndrome 0 6 228 127 15 0 376
Fanconi anemia complementation group A 28 30 204 81 3 0 346
Polycystic kidney disease 4 44 44 154 77 3 0 322
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 16 6 119 149 3 0 293
Fanconi anemia complementation group P 2 4 236 49 1 0 292
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 50 31 146 54 0 0 281
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 31 12 142 84 0 0 269
Nephronophthisis 4; Senior-Loken syndrome 4 6 10 203 37 0 0 256
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 6 15 165 67 2 0 255
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2 2 152 91 4 0 251
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 13 9 207 18 0 0 247
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 7 4 220 16 0 0 247
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 3 6 199 27 5 0 240
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 13 11 140 66 3 0 233
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 1 8 140 81 3 0 233
Familial cancer of breast; Ataxia-telangiectasia syndrome 48 22 146 10 4 0 230
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 0 188 35 7 0 230
Spermatogenic failure 28; Premature ovarian failure 15 0 0 191 31 0 0 222
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 4 1 132 76 7 0 220
Orofaciodigital syndrome type 6; Joubert syndrome 17 18 13 133 50 5 0 219
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 8 2 140 63 1 0 214
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 27 5 135 37 2 0 206
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 25 14 99 60 7 0 205
Cardiac arrhythmia, ankyrin-B-related 0 0 175 23 7 0 205
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 14 14 135 33 8 0 204
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 4 7 132 60 0 0 203
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 8 12 131 43 2 0 196
Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 12 6 162 10 5 0 195
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 174 18 0 0 192
Glycogen storage disease, type II 46 22 99 17 0 0 184
Hirschsprung disease, susceptibility to, 1; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; Pheochromocytoma; Familial medullary thyroid carcinoma; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 3 0 124 55 2 0 184
Wilson disease 44 30 76 27 2 0 179
Fanconi anemia complementation group I 3 9 124 39 3 0 178
Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 87 89 1 0 177
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 62 4 67 26 17 0 176
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 1 0 109 60 6 0 176
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 28 8 116 18 3 0 173
Autosomal recessive Alport syndrome; Benign familial hematuria 23 40 59 48 2 0 172
Usher syndrome type 2A; Retinitis pigmentosa 39 37 14 81 26 8 0 166
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 71 6 81 4 3 0 165
Fraser syndrome 1 7 8 97 49 3 0 164
Nephronophthisis 15 1 14 95 53 1 0 164
Long QT syndrome 11 0 0 136 17 7 0 160
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 22 36 49 52 0 0 159
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 5 2 74 72 4 0 157
Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 4 19 100 30 1 0 154
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 10 10 97 35 0 0 152
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2 3 110 30 3 0 148
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 8 2 104 25 6 0 145
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 1 3 102 36 2 0 144
X-linked Alport syndrome 46 42 16 38 2 0 144
Medulloblastoma; Familial dysautonomia 1 11 95 35 1 0 143
Fanconi anemia complementation group D2 4 12 80 41 1 0 138
Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 0 111 23 3 0 137
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 53 2 36 24 20 0 135
Short QT syndrome type 1; Long QT syndrome 2 3 2 113 14 1 0 133
Sucrase-isomaltase deficiency 4 11 64 51 3 0 133
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 5 8 91 24 3 0 131
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 1 2 101 24 3 0 131
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 6 4 99 13 6 0 128
Dilated cardiomyopathy 1JJ 0 0 106 19 2 0 127
Familial hypokalemia-hypomagnesemia 41 32 26 27 1 0 127
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 1 0 59 63 4 0 127
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 6 1 96 21 2 0 126
Finnish congenital nephrotic syndrome 15 19 43 45 3 0 125
Joubert syndrome 3 10 9 77 27 0 0 123
Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 1 109 9 0 0 119
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 4 3 88 21 2 0 118
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 14 10 57 33 3 0 117
Dilated cardiomyopathy 1DD 2 0 105 8 0 0 115
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 9 6 74 26 0 0 115
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 3 45 64 1 0 114
Glycogen storage disease type III 17 17 74 4 2 0 114
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17 3 1 49 58 3 0 114
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 1 6 74 31 1 0 113
Polycystic kidney disease 2 41 5 48 17 1 0 112
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 0 78 31 2 0 111
Bardet-Biedl syndrome 9 5 4 64 36 1 0 110
Hypercholesterolemia, familial, 1 32 14 54 9 1 0 110
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2 0 56 46 5 0 109
Fanconi anemia complementation group C 13 10 69 16 0 0 108
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 43 61 3 0 107
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 7 3 66 26 2 0 104
Smith-Lemli-Opitz syndrome 23 17 42 18 2 0 102
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 3 8 73 14 3 0 101
Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 0 0 86 13 2 0 101
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2 1 36 57 5 0 101
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 14 4 56 25 1 0 100
Isolated cryptophthalmia; Fraser syndrome 2 1 2 64 31 2 0 100
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 29 18 36 17 0 0 100
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 0 0 88 12 0 0 100
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 0 2 41 51 4 0 98
Complement component 5 deficiency; Eculizumab, poor response to 2 3 52 41 0 0 98
Autosomal recessive hypophosphatemic bone disease 6 5 57 28 1 0 97
Dilated cardiomyopathy 1KK; MYPN-related myopathy 0 1 81 13 2 0 97
Schimke immuno-osseous dysplasia 8 6 54 28 1 0 97
Usher syndrome type 2C; Febrile seizures, familial, 4 3 2 59 18 14 0 96
Bardet-Biedl syndrome 1 12 4 64 15 0 0 95
Phenylketonuria 66 14 8 3 4 0 95
Sotos syndrome 1 2 53 31 7 0 94
Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 0 1 71 19 3 0 94
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 9 3 68 10 3 0 93
Infantile nephronophthisis 6 5 66 13 2 0 92
Fibromatosis, gingival, 1; Noonan syndrome 4 7 1 65 15 2 0 90
Hereditary xanthinuria type 1 5 2 56 26 1 0 90
Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 6 1 42 38 3 0 90
Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 19 10 51 5 4 0 89
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 13 14 43 17 2 0 89
ALG1-congenital disorder of glycosylation 6 5 39 34 4 0 88
Cerebral palsy, spastic quadriplegic, 2 0 0 53 33 2 0 88
Meretoja syndrome 1 0 49 36 0 0 86
Cranioectodermal dysplasia 1 1 4 56 22 2 0 85
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 10 7 58 7 3 0 85
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 4 73 8 0 0 85
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 16 11 47 10 0 0 84
Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant 0 0 72 12 0 0 84
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 1 0 35 40 7 0 83
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 19 16 21 24 2 0 82
Episodic pain syndrome, familial, 2 0 0 63 17 2 0 82
Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 0 0 74 7 1 0 82
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 11 4 43 23 0 0 81
Cystinuria 15 11 39 15 1 0 81
Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 1 0 72 5 2 0 80
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 35 44 1 0 80
Hermansky-Pudlak syndrome 1 10 3 36 29 2 0 80
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 28 4 29 18 1 0 80
Developmental and epileptic encephalopathy, 36 1 0 32 44 2 0 79
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 3 3 37 30 5 0 78
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 11 8 44 15 0 0 78
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 0 55 20 3 0 78
Primary ciliary dyskinesia 3 13 11 39 14 1 0 78
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 11 7 47 12 0 0 77
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 4 3 64 2 3 0 76
Brachydactyly type B1; Autosomal recessive Robinow syndrome 0 2 44 27 2 0 75
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 24 11 27 9 3 0 74
Fanconi anemia complementation group E 4 2 51 17 0 0 74
Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 4 8 50 12 0 0 74
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2 4 49 19 0 0 74
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 1 5 39 26 2 0 73
Sneddon syndrome; Vasculitis due to ADA2 deficiency 9 4 46 14 0 0 73
Bardet-Biedl syndrome 12 8 14 44 6 0 0 72
Cohen syndrome 11 5 53 2 1 0 72
Koolen-de Vries syndrome 0 0 30 39 3 0 72
Aortic valve disease 1; Adams-Oliver syndrome 5 0 0 45 18 8 0 71
Arrhythmogenic right ventricular dysplasia 11 1 4 58 7 1 0 71
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 0 47 21 3 0 71
Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 1 1 50 19 0 0 71
Hypercholesterolemia, autosomal dominant, 3 0 0 60 9 2 0 71
Primary hyperoxaluria, type I 20 14 15 20 2 0 71
Retinitis pigmentosa 25 13 14 38 6 0 0 71
Arrhythmogenic right ventricular dysplasia 9 11 3 51 4 1 0 70
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 63 6 1 0 70
Bardet-Biedl syndrome 10 14 8 29 18 0 0 69
Fanconi anemia complementation group G 8 4 40 17 0 0 69
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 5 6 50 6 2 0 69
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 2 1 42 22 1 0 68
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 19 8 32 7 2 0 68
Cobalamin C disease 20 6 25 16 0 0 67
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 0 0 54 10 3 0 67
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 8 7 38 11 2 0 66
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 0 1 47 17 0 0 65
Primary ciliary dyskinesia 7 4 4 38 16 3 0 65
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 4 4 42 11 3 0 64
Niemann-Pick disease, type C1 11 8 33 7 5 0 64
Autosomal dominant Parkinson disease 8 2 0 30 22 9 0 63
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 25 10 23 0 5 0 63
Lysinuric protein intolerance 5 11 29 18 0 0 63
PMM2-congenital disorder of glycosylation 17 14 20 11 1 0 63
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 3 1 51 5 2 0 62
Wolcott-Rallison dysplasia 1 1 46 14 0 0 62
Bardet-Biedl syndrome 7 6 2 38 15 0 0 61
Bloom syndrome 9 12 36 4 0 0 61
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 5 4 35 16 1 0 61
Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 2 2 35 20 2 0 61
Renal carnitine transport defect 16 12 29 2 2 0 61
Senior-Loken syndrome 5 6 0 41 14 0 0 61
Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 7 0 38 15 0 0 60
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher 33 4 14 6 3 0 60
Bardet-Biedl syndrome 4 2 3 37 17 1 0 60
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 5 1 42 10 2 0 60
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 8 6 36 8 2 0 60
Periventricular nodular heterotopia 7 0 0 24 33 3 0 60
Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 4 1 23 30 1 0 59
Nephrolithiasis, calcium oxalate 0 0 31 25 3 0 59
Nephronophthisis 16 2 0 26 31 0 0 59
Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 5 7 39 8 0 0 59
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2 3 45 8 0 0 58
Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 0 0 54 3 1 0 58
Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 1 3 31 22 1 0 58
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2 7 42 3 2 0 56
Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 6 10 14 24 2 0 56
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 2 3 46 4 1 0 56
5-Oxoprolinase deficiency 2 2 24 24 3 0 55
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 5 3 27 20 0 0 55
Fanconi anemia complementation group L 0 3 38 12 2 0 55
Focal segmental glomerulosclerosis 6 1 0 25 26 3 0 55
Neonatal diabetes mellitus with congenital hypothyroidism 1 1 36 16 1 0 55
Renal tubular acidosis with progressive nerve deafness 8 6 24 17 0 0 55
Action myoclonus-renal failure syndrome 3 1 32 17 1 0 54
Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 0 0 42 7 5 0 54
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 0 0 44 9 1 0 54
CHARGE association; Hypogonadotropic hypogonadism 7 with or without anosmia 0 0 35 19 0 0 54
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 5 4 40 4 1 0 54
Xanthinuria type II 1 3 26 22 2 0 54
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome 0 0 43 10 0 0 53
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy 3 9 36 5 0 0 53
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 15 9 28 1 0 0 53
Non-ketotic hyperglycinemia 8 14 24 5 2 0 53
Bartter disease type 1 4 1 32 14 1 0 52
Nijmegen breakage syndrome-like disorder 8 5 37 2 0 0 52
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 12 2 22 11 4 0 51
Bartter disease type 3; Bartter disease type 4B 12 1 16 20 1 0 50
Beckwith-Wiedemann syndrome; IMAGe syndrome 0 0 35 12 3 0 50
Fabry disease 19 8 17 5 1 0 50
Kabuki syndrome 1 3 0 26 18 3 0 50
Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 6 17 25 1 0 0 49
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 18 4 24 1 2 0 49
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma 2 1 40 6 0 0 49
Ellis-van Creveld syndrome; Curry-Hall syndrome 12 9 17 8 3 0 49
Familial cancer of breast; Fanconi anemia complementation group J 7 4 32 4 2 0 49
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A 5 0 9 33 2 0 49
BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 4 4 26 14 0 0 48
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 0 19 18 11 0 48
Juvenile myelomonocytic leukemia; CBL-related disorder 0 1 39 5 3 0 48
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 13 4 17 14 0 0 48
Townes-Brocks syndrome 1 3 0 19 25 1 0 48
Upshaw-Schulman syndrome 2 2 32 9 3 0 48
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer 4 1 25 16 1 0 47
Brittle cornea syndrome 1 0 0 36 9 2 0 47
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 3 0 24 17 3 0 47
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 6 4 15 19 2 0 46
Chédiak-Higashi syndrome 0 0 39 7 0 0 46
Focal segmental glomerulosclerosis 1 1 0 14 27 4 0 46
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 0 0 29 17 0 0 46
Brugada syndrome 4 0 0 35 9 1 0 45
Fanconi anemia complementation group F 2 0 43 0 0 0 45
Long QT syndrome 12 0 0 42 2 1 0 45
Atrial fibrillation, familial, 7 0 1 43 0 0 0 44
Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12; Intellectual disability and myopathy syndrome 0 0 37 7 0 0 44
Long QT syndrome 13; Familial hyperaldosteronism type III 0 0 28 15 1 0 44
Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 6 3 26 9 0 0 44
Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 2 2 29 10 1 0 44
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 5 0 16 22 1 0 44
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 1 0 41 1 0 0 43
Familial juvenile hyperuricemic nephropathy type 1 6 5 19 11 2 0 43
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 3 0 25 14 1 0 43
Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 0 0 40 3 0 0 43
Intestinal hypomagnesemia 1 1 0 20 22 0 0 43
Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset 23 6 10 4 0 0 43
Proline dehydrogenase deficiency; Schizophrenia 4 1 3 18 18 3 0 43
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 1 29 13 0 0 43
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 5 3 33 1 0 0 42
Charlevoix-Saguenay spastic ataxia 6 4 28 4 0 0 42
Classic homocystinuria 11 4 22 3 2 0 42
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2 0 30 10 0 0 42
Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency 4 5 9 20 4 0 42
Familial idiopathic hypercalciuria 0 1 22 17 2 0 42
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2 4 24 11 1 0 42
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 4 4 23 11 0 0 42
Microcephaly 5, primary, autosomal recessive 3 2 21 15 1 0 42
Autosomal recessive nonsyndromic hearing loss 77 4 4 31 2 0 0 41
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 3 3 18 16 1 0 41
Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 1 1 14 18 7 0 41
Nephrotic syndrome, type 3 2 1 25 12 1 0 41
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; Methemoglobinemia, beta-globin type; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 25 1 10 3 1 0 40
Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 1 3 14 20 2 0 40
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6 1 0 33 6 0 0 40
Microcephalic osteodysplastic primordial dwarfism type II 2 0 28 9 1 0 40
Propionic acidemia 13 7 14 6 0 0 40
Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 1 0 23 15 0 0 39
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 0 0 21 14 4 0 39
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 0 0 23 16 0 0 39
Hyperthyroxinemia, dystransthyretinemic; Familial amyloid neuropathy; Carpal tunnel syndrome 1 4 2 21 12 0 0 39
Imerslund-Grasbeck syndrome type 2 2 2 14 19 2 0 39
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 1 3 27 7 1 0 39
Lynch syndrome 4; Mismatch repair cancer syndrome 4 6 5 24 3 1 0 39
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 6 1 22 9 1 0 39
Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 7 5 11 14 2 0 39
Autosomal recessive osteopetrosis 1 6 5 25 2 0 0 38
Combined oxidative phosphorylation deficiency 44 0 2 22 14 0 0 38
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 11 6 12 9 0 0 38
Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 1 3 18 14 2 0 38
Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 1 1 33 2 1 0 38
Myoglobinuria, acute recurrent, autosomal recessive 2 2 23 10 1 0 38
Tumoral calcinosis, hyperphosphatemic, familial, 3 0 0 24 11 3 0 38
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 25 8 4 0 37
Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 0 0 22 12 3 0 37
Familial cancer of breast 5 1 25 3 3 0 37
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate 7 1 29 0 0 0 37
Maple syrup urine disease 12 8 11 6 0 0 37
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 4 4 17 11 1 0 37
Alkaptonuria 14 2 5 14 1 0 36
Autosomal systemic lupus erythematosus type 16 0 0 24 12 0 0 36
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome 1 0 35 0 0 0 36
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 0 1 10 24 1 0 36
Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 1 2 22 10 1 0 36
Congenital glucose-galactose malabsorption 1 0 25 9 1 0 36
DK1-congenital disorder of glycosylation 0 0 34 2 0 0 36
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Neoplasm of ovary; Malignant tumor of prostate 6 2 16 10 2 0 36
Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 0 3 20 11 2 0 36
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 9 5 18 4 0 0 36
Polycystic liver disease 1 3 2 9 22 0 0 36
Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9 2 0 29 2 2 0 35
Breast-ovarian cancer, familial, susceptibility to, 2 6 1 10 13 5 0 35
Familial adenomatous polyposis 2; Gastric cancer 10 1 20 3 1 0 35
Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 0 0 33 1 1 0 35
Loeys-Dietz syndrome 4 0 0 30 3 2 0 35
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 2 7 26 0 0 35
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma 10 3 11 11 0 0 35
Telangiectasia, hereditary hemorrhagic, type 1 6 4 21 4 0 0 35
Werner syndrome 3 5 26 0 1 0 35
Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 0 1 28 4 1 0 34
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 0 0 31 3 0 0 34
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome 2 2 25 5 0 0 34
Duane-radial ray syndrome; Oculootoradial syndrome 0 0 15 17 2 0 34
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 6 3 24 1 0 0 34
Mismatch repair cancer syndrome 1; Lynch syndrome 4 5 1 27 1 0 0 34
Multiple acyl-CoA dehydrogenase deficiency 5 10 14 5 0 0 34
Primary hyperoxaluria type 3 5 7 16 6 0 0 34
Autosomal recessive nonsyndromic hearing loss 3 4 6 22 0 1 0 33
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 1 6 24 2 0 33
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 9 1 22 0 1 0 33
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2 4 25 2 0 0 33
Endometrial carcinoma; Mismatch repair cancer syndrome 1; Lynch syndrome 5 1 1 31 0 0 0 33
Essential hypertension, genetic; Renal tubular dysgenesis of genetic origin 0 2 18 13 0 0 33
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 3 3 21 5 1 0 33
Metachromatic leukodystrophy 14 5 13 1 0 0 33
Primary failure of tooth eruption; Chondrodysplasia Blomstrand type; Eiken syndrome; Metaphyseal chondrodysplasia, Jansen type 1 0 18 13 1 0 33
Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 0 0 25 8 0 0 33
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2 0 14 16 1 0 33
ADULT syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; Limb-mammary syndrome; Rapp-Hodgkin ectodermal dysplasia syndrome; Split hand-foot malformation 4; Orofacial cleft 8 0 0 15 17 0 0 32
ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts 3 8 13 8 0 0 32
Autosomal recessive DOPA responsive dystonia 2 3 23 3 1 0 32
Nephrotic syndrome, type 2 13 5 7 7 0 0 32
Primary hyperoxaluria, type II 7 10 6 9 0 0 32
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 0 10 21 0 0 31
Autosomal recessive nonsyndromic hearing loss 9 5 4 16 2 4 0 31
Bartter disease type 4A 4 1 12 13 1 0 31
Hypercalcemia, infantile, 1 4 1 14 12 0 0 31
Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 0 0 11 18 2 0 31
Pseudohypoaldosteronism type 2B 1 0 9 21 0 0 31
Autosomal recessive early-onset Parkinson disease 6 1 0 22 5 2 0 30
Bardet-Biedl syndrome 5 1 3 20 6 0 0 30
Congenital generalized lipodystrophy type 1 4 2 16 8 0 0 30
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1 7 3 15 4 1 0 30
Nail-patella syndrome; Nail-patella-like renal disease 3 0 9 17 1 0 30
Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 9 1 13 6 1 0 30
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 4 8 16 1 1 0 30
Plasminogen deficiency, type I; Angioedema, hereditary, 4 0 0 20 7 3 0 30
Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 5 3 11 10 1 0 30
Very long chain acyl-CoA dehydrogenase deficiency 11 2 12 3 2 0 30
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 8 3 13 3 2 0 29
Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome 0 2 22 5 0 0 29
Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 0 1 1 25 2 0 29
Deficiency of alpha-mannosidase 3 4 15 3 4 0 29
Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10 0 0 22 6 1 0 29
Focal segmental glomerulosclerosis 3, susceptibility to 3 1 11 14 0 0 29
Hyperglycinuria; Iminoglycinuria 0 0 18 10 1 0 29
Polyglandular autoimmune syndrome, type 1 5 7 14 3 0 0 29
Renal hypomagnesemia 4 0 0 16 11 2 0 29
Telangiectasia, hereditary hemorrhagic, type 2 6 4 17 1 1 0 29
Diamond-Blackfan anemia 6 1 0 10 17 0 0 28
Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 0 6 22 0 0 28
Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 0 0 18 10 0 0 28
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 0 0 19 8 1 0 28
Glutaric aciduria, type 1 14 10 4 0 0 0 28
Glycogen storage disease, type V 8 4 14 2 0 0 28
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 15 13 0 0 28
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 0 1 18 7 2 0 28
Nephronophthisis 7 0 0 19 8 1 0 28
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 1 1 11 14 0 0 27
Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 0 0 25 2 0 0 27
Branchiootorenal syndrome 2 0 0 7 20 0 0 27
Brugada syndrome 2 0 0 19 8 0 0 27
Deficiency of steroid 17-alpha-monooxygenase 6 4 6 11 0 0 27
Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2 0 3 20 4 0 0 27
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate; Colorectal cancer 3 3 20 1 0 0 27
Focal segmental glomerulosclerosis 2 2 1 12 11 1 0 27
Galactosylceramide beta-galactosidase deficiency 4 5 13 4 1 0 27
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 0 1 14 12 0 0 27
Hypouricemia, renal, 2 1 2 8 11 5 0 27
Left ventricular noncompaction 8 0 0 19 6 2 0 27
Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 0 0 22 5 0 0 27
Mucopolysaccharidosis, MPS-III-A 9 8 9 1 0 0 27
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 0 0 22 5 0 0 27
Polycystic liver disease 2 2 4 2 17 2 0 27
Primary ciliary dyskinesia 15 4 3 17 2 1 0 27
Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 4 4 15 2 2 0 27
Amelogenesis imperfecta type 1G 3 0 10 12 1 0 26
Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome 1 1 15 8 1 0 26
Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 17 8 1 0 26
Autosomal recessive limb-girdle muscular dystrophy type 2G; Hypertrophic cardiomyopathy 25 1 2 20 3 0 0 26
Combined malonic and methylmalonic acidemia 3 8 13 2 0 0 26
Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 1 4 14 5 2 0 26
Congenital lipoid adrenal hyperplasia due to STAR deficency 7 7 5 7 0 0 26
Dalmatian hypouricemia 1 3 14 8 0 0 26
Familial hypocalciuric hypercalcemia 2; Autosomal dominant hypocalcemia 2 1 0 8 16 1 0 26
Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2 0 20 4 0 0 26
Niemann-Pick disease, type B; Niemann-Pick disease, type A 9 5 10 1 1 0 26
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 8 1 5 8 4 0 26
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 0 3 14 7 2 0 26
Cholestanol storage disease 12 1 10 2 0 0 25
Chorea-acanthocytosis 4 5 7 7 2 0 25
Danon disease 0 0 21 3 1 0 25
Dent disease type 2; Lowe syndrome 1 2 10 11 1 0 25
Familial X-linked hypophosphatemic vitamin D refractory rickets 6 1 3 15 0 0 25
Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 1 22 0 2 0 25
Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 10 3 10 1 1 0 25
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 22 3 0 0 25
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 1 0 16 7 1 0 25
Nephrotic syndrome 15 0 0 19 5 1 0 25
Polycystic kidney disease 3 with or without polycystic liver disease 2 2 12 9 0 0 25
Thyroid dyshormonogenesis 6 5 4 14 2 0 0 25
Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 6 6 10 1 2 0 25
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 0 11 14 0 0 25
3-methylcrotonyl-CoA carboxylase 1 deficiency 6 8 9 0 1 0 24
Ataxia-telangiectasia-like disorder 1 0 0 24 0 0 0 24
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 0 0 22 2 0 0 24
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 6 4 13 0 1 0 24
Biotinidase deficiency 9 7 8 0 0 0 24
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 3 7 13 1 0 0 24
Developmental and epileptic encephalopathy, 18 0 1 15 8 0 0 24
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2 0 19 3 0 0 24
Fraser syndrome 3 0 0 15 7 2 0 24
Glaucoma, primary closed-angle; Knobloch syndrome 1 1 0 13 9 1 0 24
Hypercholesterolemia, familial, 4 4 2 15 3 0 0 24
Maturity-onset diabetes of the young type 11 0 0 8 14 2 0 24
Mitochondrial complex 4 deficiency, nuclear type 3 0 2 17 5 0 0 24
Mucolipidosis type II; Pseudo-Hurler polydystrophy 5 1 13 5 0 0 24
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 10 4 10 0 0 0 24
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 8 2 11 3 0 0 24
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 0 1 20 3 0 0 24
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97 0 0 23 1 0 0 24
Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive 0 2 21 1 0 0 24
Autosomal recessive juvenile Parkinson disease 2; Neoplasm of ovary; Lung cancer 3 2 8 7 3 0 23
Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 4 2 11 6 0 0 23
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 0 0 12 9 2 0 23
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 5 2 10 6 0 0 23
Combined oxidative phosphorylation defect type 11 2 1 12 7 1 0 23
Ehlers-Danlos syndrome, dermatosparaxis type 0 1 17 4 1 0 23
Epilepsy, familial focal, with variable foci 1 2 0 18 3 0 0 23
Karyomegalic interstitial nephritis 5 4 3 11 0 0 23
Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern 0 0 20 3 0 0 23
Lynch syndrome 1; Mismatch repair cancer syndrome 1; Muir-Torré syndrome 7 0 16 0 0 0 23
Maturity-onset diabetes of the young type 7 0 0 15 7 1 0 23
Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2 7 9 5 0 0 23
Primary ciliary dyskinesia 14 4 4 12 3 0 0 23
Tay-Sachs disease 9 5 8 1 0 0 23
Vesicoureteral reflux 2 0 0 6 16 1 0 23
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type 2 0 6 11 3 0 22
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5 10 1 4 5 2 0 22
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 4 2 15 1 0 0 22
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 5 4 10 2 1 0 22
Cerebroretinal microangiopathy with calcifications and cysts 1 3 4 13 1 1 0 22
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 7 0 13 2 0 0 22
Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 3 3 10 5 1 0 22
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 4 1 13 2 2 0 22
Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 0 4 13 5 0 0 22
Glucocorticoid deficiency 5 0 0 16 2 4 0 22
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 0 0 16 5 1 0 22
Medium-chain acyl-coenzyme A dehydrogenase deficiency 10 6 4 2 0 0 22
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 1 2 15 3 1 0 22
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 5 0 5 11 1 0 22
Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 1 0 17 4 0 0 22
Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 0 0 14 6 1 0 21
Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 1 4 9 5 2 0 21
CFHR5 deficiency 0 0 10 9 2 0 21
Currarino triad 0 0 9 11 1 0 21
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 0 14 7 0 0 21
Developmental and epileptic encephalopathy, 5 0 0 6 11 4 0 21
Epidermolysis bullosa, junctional 6, with pyloric atresia 0 1 7 9 4 0 21
Hereditary spastic paraplegia 7 10 3 6 2 0 0 21
Hypertrophic cardiomyopathy 8 0 0 18 2 1 0 21
LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN 3 0 13 4 1 0 21
Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 0 4 9 8 0 0 21
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 5 4 9 2 1 0 21
Otitis media, susceptibility to 0 0 13 6 2 0 21
Perlman syndrome 0 0 19 1 1 0 21
Pulmonary hypertension, primary, 4 0 0 14 7 0 0 21
Retinitis pigmentosa; Cone-rod dystrophy 16; Bardet-biedl syndrome 21 1 1 16 3 0 0 21
Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 1 0 15 4 0 0 20
Autosomal recessive congenital ichthyosis 1 9 5 5 1 0 0 20
Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Autosomal recessive pseudohypoaldosteronism type 1 2 1 8 9 0 0 20
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 9 3 4 2 2 0 20
Deficiency of guanidinoacetate methyltransferase 4 3 13 0 0 0 20
Familial renal glucosuria 1 4 13 0 2 0 20
Hereditary factor XI deficiency disease 11 5 3 1 0 0 20
Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2 1 16 1 0 0 20
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 3 2 12 3 0 0 20
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 6 1 9 3 1 0 20
Mucopolysaccharidosis, MPS-IV-A 6 5 6 1 2 0 20
Neuroblastoma, susceptibility to, 3 0 0 16 4 0 0 20
Occipital pachygyria and polymicrogyria 0 2 11 6 1 0 20
Pontocerebellar hypoplasia type 6 3 9 7 1 0 0 20
Tumoral calcinosis, hyperphosphatemic, familial, 1 5 1 10 4 0 0 20
Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 4 1 12 2 1 0 20
Vitamin D hydroxylation-deficient rickets, type 1B 1 0 10 9 0 0 20
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 4 1 9 3 3 0 20
Autosomal recessive polycystic kidney disease 3 3 13 0 0 0 19
Bartter disease type 2 0 5 12 1 1 0 19
Breast-ovarian cancer, familial, susceptibility to, 1 6 0 3 10 0 0 19
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 5 3 10 1 0 0 19
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 9 1 4 5 0 0 19
GNE myopathy; Sialuria 7 5 5 2 0 0 19
Holt-Oram syndrome 1 0 13 5 0 0 19
Hypertrophic cardiomyopathy 16 0 1 16 2 0 0 19
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 0 3 11 3 2 0 19
Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 1 0 17 1 0 0 19
Mitochondrial complex 4 deficiency, nuclear type 4 0 3 11 4 1 0 19
Primary ciliary dyskinesia 18 0 2 15 2 0 0 19
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 0 0 11 7 1 0 19
Type 2 diabetes mellitus; Fanconi-Bickel syndrome 3 1 9 6 0 0 19
Vitamin D-dependent rickets type II with alopecia 1 0 14 4 0 0 19
Xeroderma pigmentosum, group C 6 0 10 3 0 0 19
3 beta-Hydroxysteroid dehydrogenase deficiency 5 2 3 8 0 0 18
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis 5 0 7 5 1 0 18
Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 0 0 10 7 1 0 18
Autosomal recessive nonsyndromic hearing loss 28 2 1 10 5 0 0 18
Bardet-Biedl syndrome 17 0 0 10 8 0 0 18
Breast-ovarian cancer, familial, susceptibility to, 4 5 2 10 1 0 0 18
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 3 1 14 0 0 0 18
Citrullinemia type I 9 3 6 0 0 0 18
Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 5 5 7 1 0 0 18
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 2 10 5 1 0 18
Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 0 2 13 2 1 0 18
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 0 0 2 15 1 0 18
Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate antidiuresis 0 4 4 10 0 0 18
Dihydropyrimidine dehydrogenase deficiency 3 5 9 0 1 0 18
Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia 5 3 4 4 2 0 18
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 10 4 4 0 0 0 18
Hypogonadotropic hypogonadism 3 with or without anosmia 2 1 9 5 1 0 18
MHC class II deficiency; Rheumatoid arthritis 0 0 17 0 1 0 18
Maturity-onset diabetes of the young type 8 0 0 4 12 2 0 18
Osteopetrosis with renal tubular acidosis 1 0 8 8 1 0 18
Renal hypomagnesemia 6; Hypomagnesemia, seizures, and intellectual disability 1 0 1 6 11 0 0 18
Smith-Magenis syndrome 0 0 6 11 1 0 18
Spermatogenic failure 46 0 0 9 8 1 0 18
Vanishing white matter disease 6 2 6 4 0 0 18
Vitamin D-dependent rickets, type 1A 0 3 7 7 1 0 18
Wiedemann-Steiner syndrome 1 0 2 15 0 0 18
ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 0 2 4 10 1 0 17
Autosomal recessive nonsyndromic hearing loss 18B 0 2 10 4 1 0 17
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 1 1 10 4 1 0 17
Autosomal recessive proximal renal tubular acidosis 0 0 7 8 2 0 17
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 9 2 5 1 0 0 17
Coenzyme Q10 deficiency, primary, 3 0 1 7 9 0 0 17
Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2 1 12 1 1 0 17
Deficiency of acetyl-CoA acetyltransferase 4 7 2 2 2 0 17
Deficiency of butyryl-CoA dehydrogenase 5 3 7 0 2 0 17
Enhanced S-cone syndrome; Retinitis pigmentosa 37 3 0 12 2 0 0 17
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder 0 1 8 8 0 0 17
Episodic ataxia type 1 0 0 9 7 1 0 17
Familial hemophagocytic lymphohistiocytosis 3 5 2 7 3 0 0 17
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 1 1 10 4 1 0 17
Hereditary fructosuria 5 2 10 0 0 0 17
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect 2 5 6 4 0 0 17
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 9 7 0 0 17
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 0 1 11 4 1 0 17
KBG syndrome 3 0 4 9 1 0 17
Kartagener syndrome 2 3 9 3 0 0 17
Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 7 2 4 3 1 0 17
Long QT syndrome 10 0 0 15 1 1 0 17
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome 4 2 8 3 0 0 17
Microcephaly 1, primary, autosomal recessive 1 1 12 2 1 0 17
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 6 2 9 0 0 0 17
Mitochondrial complex 4 deficiency, nuclear type 17 1 0 8 7 1 0 17
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 8 1 8 0 0 0 17
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome 0 1 14 2 0 0 17
Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 0 9 6 1 0 17
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 0 0 16 1 0 0 17
Renal hypomagnesemia 5 with ocular involvement 1 1 14 1 0 0 17
Retinitis pigmentosa 45 5 2 8 2 0 0 17
Sandhoff disease 11 2 2 1 1 0 17
Sinoatrial node dysfunction and deafness; Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 11 5 1 0 17
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 7 3 5 2 0 0 17
Adenine phosphoribosyltransferase deficiency 3 3 6 4 0 0 16
Alpha-1-antitrypsin deficiency 3 3 9 0 1 0 16
Argininosuccinate lyase deficiency 10 2 3 1 0 0 16
Asphyxiating thoracic dystrophy 3 0 1 8 6 1 0 16
Atrial septal defect 4 0 0 15 1 0 0 16
Autosomal dominant Robinow syndrome 1 0 0 9 7 0 0 16
Autosomal dominant hypophosphatemic rickets; Tumoral calcinosis, hyperphosphatemic, familial, 2 2 0 7 5 2 0 16
Autosomal recessive limb-girdle muscular dystrophy type 2C 3 2 11 0 0 0 16
Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2 1 9 2 2 0 16
Coffin-Siris syndrome 1 3 0 5 8 0 0 16
Cutis laxa with osteodystrophy; Wrinkly skin syndrome 1 0 14 1 0 0 16
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 1 0 8 7 0 0 16
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 0 0 7 9 0 0 16
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 5 10 1 0 16
Focal segmental glomerulosclerosis 4, susceptibility to 0 0 5 11 0 0 16
Hereditary antithrombin deficiency 2 2 10 1 1 0 16
Hereditary spastic paraplegia 15 1 3 10 2 0 0 16
Hypophosphatemic rickets, autosomal recessive, 1 0 2 11 2 1 0 16
Immunoglobulin-mediated membranoproliferative glomerulonephritis 5 2 3 5 1 0 16
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5 0 0 16 0 0 0 16
Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 2 0 11 2 1 0 16
Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 1 3 9 3 0 0 16
Mucopolysaccharidosis type 6 6 2 6 1 1 0 16
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2 1 12 1 0 0 16
Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 2 3 6 5 0 0 16
Oligodontia-cancer predisposition syndrome; Colorectal cancer 0 0 5 9 2 0 16
Osteogenesis imperfecta type 8 3 1 10 2 0 0 16
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 4 2 8 2 0 0 16
Seizures, benign familial neonatal, 2 1 0 8 6 1 0 16
Short stature, microcephaly, and endocrine dysfunction 0 3 7 6 0 0 16
Spinocerebellar ataxia type 19/22; Brugada syndrome 9 0 0 11 5 0 0 16
Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 9 1 5 0 0 0 15
Atrial fibrillation, familial, 4; Long QT syndrome 6 0 0 14 1 0 0 15
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 4 2 8 1 0 0 15
Bardet-Biedl syndrome 18 0 0 13 2 0 0 15
Branchiooculofacial syndrome 0 0 4 11 0 0 15
Carney complex, type 1; Pigmented nodular adrenocortical disease, primary, 1; Familial atrial myxoma; Acrodysostosis 1 with or without hormone resistance 1 1 9 4 0 0 15
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 0 0 4 10 1 0 15
Child syndrome; CK syndrome 0 0 6 9 0 0 15
Ciliary dyskinesia, primary, 40 0 1 1 12 1 0 15
Complement component 6 deficiency 2 3 4 5 1 0 15
Cornelia de Lange syndrome 1 0 0 8 4 3 0 15
Diamond-Blackfan anemia 10 0 0 3 11 1 0 15
Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy 18 0 0 15 0 0 0 15
Ehlers-Danlos syndrome, classic type, 2 0 1 11 3 0 0 15
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 1 0 4 9 1 0 15
Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate 2 0 6 7 0 0 15
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 7 8 0 0 15
Hermansky-Pudlak syndrome 5 1 2 10 1 1 0 15
Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 0 1 8 6 0 0 15
Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0 2 12 1 0 0 15
Hypoparathyroidism, deafness, renal disease syndrome 0 0 5 10 0 0 15
Kleefstra syndrome 1 0 0 10 4 1 0 15
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2 4 0 7 4 0 0 15
Mowat-Wilson syndrome 1 0 6 7 1 0 15
Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II 1 0 13 1 0 0 15
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy 0 1 13 1 0 0 15
Nephronophthisis-like nephropathy 1 0 1 7 7 0 0 15
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 0 2 9 4 0 0 15
Primary ciliary dyskinesia 13 0 2 9 4 0 0 15
Primary ciliary dyskinesia 21 1 2 6 4 2 0 15
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 10 5 0 0 15
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 0 3 9 2 1 0 15
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5 0 0 9 5 1 0 15
X-linked Emery-Dreifuss muscular dystrophy 1 0 10 3 1 0 15
Young-onset Parkinson disease 9 7 0 0 0 0 15
Acyl-CoA dehydrogenase 9 deficiency 3 4 4 3 0 0 14
Adult polyglucosan body disease; Glycogen storage disease, type IV 3 0 7 4 0 0 14
Aneurysm-osteoarthritis syndrome 1 0 13 0 0 0 14
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 0 8 5 1 0 14
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 1 0 13 0 0 0 14
Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 1 5 8 0 0 0 14
Carnitine palmitoyl transferase 1A deficiency 1 1 10 2 0 0 14
Combined immunodeficiency due to LRBA deficiency 0 1 10 3 0 0 14
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 3 2 8 1 0 0 14
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 1 0 5 6 2 0 14
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 3 2 6 3 0 0 14
Deficiency of ferroxidase 0 0 11 3 0 0 14
Diamond-Blackfan anemia 1 0 0 4 9 1 0 14
Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4 1 0 10 3 0 0 14
Familial acute necrotizing encephalopathy 1 0 4 9 0 0 14
Galloway-Mowat syndrome 1 0 0 8 6 0 0 14
Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 6 2 4 1 1 0 14
Intellectual disability, autosomal dominant 5 4 0 5 5 0 0 14
Intellectual disability, autosomal recessive 13 1 0 11 1 1 0 14
Kleefstra syndrome 2 0 0 4 10 0 0 14
Landau-Kleffner syndrome 0 0 11 3 0 0 14
Occult macular dystrophy; Retinitis pigmentosa 88 0 1 3 7 3 0 14
Parkinson disease, late-onset 12 1 0 0 0 1 14
Primary ciliary dyskinesia 9 1 2 11 0 0 0 14
Pulmonary hypertension, primary, 2 1 1 8 4 0 0 14
Pyruvate carboxylase deficiency 0 1 10 2 1 0 14
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 4 2 6 1 1 0 14
Tyrosinemia type I 7 3 3 1 0 0 14
Urofacial syndrome type 1 4 0 2 8 0 0 14
Xeroderma pigmentosum group B; Trichothiodystrophy 2, photosensitive 0 7 5 1 1 0 14
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 0 9 2 1 0 13
Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2 5 3 3 0 0 13
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 10 3 0 0 13
Aplastic anemia; Familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin, familial 2 2 9 0 0 0 13
Atrial fibrillation, familial, 14 0 0 13 0 0 0 13
Brugada syndrome 7 0 0 11 1 1 0 13
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 3 0 10 0 0 0 13
Colorectal cancer 0 0 3 7 3 0 13
Developmental and epileptic encephalopathy 94 2 0 7 4 0 0 13
Diabetes insipidus, nephrogenic, autosomal 2 6 1 3 1 0 13
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 11 2 0 0 13
Gallbladder disease 4; Sitosterolemia 1 1 0 9 2 1 0 13
Hermansky-Pudlak syndrome 2 0 1 9 3 0 0 13
Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 0 0 4 9 0 0 13
Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 1 0 9 3 0 0 13
Leber congenital amaurosis 4; Retinitis pigmentosa 1 2 5 0 5 0 13
MPI-congenital disorder of glycosylation 2 2 7 2 0 0 13
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 9 4 0 0 0 0 13
Obesity 0 0 8 5 0 0 13
Odonto-onycho-dermal dysplasia; SchC6pf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 2 4 5 2 0 0 13
Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 5 1 6 1 0 0 13
Primary ciliary dyskinesia 28 1 3 5 2 2 0 13
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 13 0 0 0 13
Pseudohypoaldosteronism type 2D 3 1 3 5 1 0 13
Shprintzen-Goldberg syndrome 0 0 9 4 0 0 13
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 0 2 9 2 0 13
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 5 6 1 0 0 12
3M syndrome 2 0 0 6 4 2 0 12
ALG6-congenital disorder of glycosylation 1C 2 1 5 4 0 0 12
Adenylosuccinate lyase deficiency 5 0 6 1 0 0 12
Adrenoleukodystrophy 3 1 6 1 1 0 12
Alzheimer disease 4; Dilated cardiomyopathy 1V 0 0 9 3 0 0 12
Amelogenesis imperfecta hypomaturation type 2A3 2 1 6 3 0 0 12
Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate 1 0 4 6 1 0 12
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1 1 0 11 0 0 0 12
Aspartylglucosaminuria 3 4 4 1 0 0 12
Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D 1 0 10 1 0 0 12
Autosomal recessive nonsyndromic hearing loss 8 3 2 5 0 2 0 12
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 1 1 5 5 0 0 12
Brugada syndrome 6 0 0 10 0 2 0 12
COG5-congenital disorder of glycosylation 0 1 7 2 2 0 12
Cardiofaciocutaneous syndrome 4 1 0 7 4 0 0 12
Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3 2 0 8 2 0 0 12
Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 0 0 7 4 1 0 12
Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome 4 1 4 3 0 0 12
Familial adenomatous polyposis 2; Pilomatrixoma; Neoplasm of stomach 4 0 8 0 0 0 12
Familial cold autoinflammatory syndrome 2 0 0 6 4 2 0 12
Hemochromatosis type 3 0 1 9 2 0 0 12
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia 0 2 7 2 1 0 12
Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I 4 2 3 2 1 0 12
Hypogonadotropic hypogonadism 1 with or without anosmia 1 0 2 9 0 0 12
Hypogonadotropic hypogonadism 7 with or without anosmia 3 1 3 5 0 0 12
MHC class I deficiency 0 0 4 8 0 0 12
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus 1 0 8 3 0 0 12
Mitochondrial DNA depletion syndrome 1 3 3 6 0 0 0 12
Mitochondrial complex 4 deficiency, nuclear type 11 0 1 7 4 0 0 12
Mucopolysaccharidosis type 7 2 3 5 2 0 0 12
Nephrotic syndrome, type 6 0 0 2 8 2 0 12
Noonan syndrome 9 0 0 8 4 0 0 12
Ornithine aminotransferase deficiency 2 3 5 1 1 0 12
Pseudohyperaldosteronism type 2; Autosomal dominant pseudohypoaldosteronism type 1 2 0 4 4 2 0 12
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 0 1 7 3 1 0 12
Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 1 0 4 6 1 0 12
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome; Infantile liver failure syndrome 2 0 2 7 3 0 0 12
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 1 0 6 4 1 0 12
Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency syndrome 0 0 7 5 0 0 12
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 4 4 1 2 0 0 11
Achromatopsia 3 5 2 4 0 0 0 11
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2 2 7 0 0 0 11
Autosomal recessive limb-girdle muscular dystrophy type 2D 5 2 4 0 0 0 11
Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2 0 0 5 6 0 0 11
Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 5 0 2 3 1 0 11
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Medulloblastoma 0 0 6 4 1 0 11
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis 0 0 4 7 0 0 11
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1 3 5 1 1 0 11
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 3 0 7 1 0 0 11
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2 1 0 8 2 0 0 11
Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 1 2 6 2 0 0 11
Complement component 7 deficiency 2 2 5 2 0 0 11
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; Pheochromocytoma; Familial medullary thyroid carcinoma; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 1 1 9 0 0 0 11
Developmental and epileptic encephalopathy, 9 3 0 1 5 2 0 11
Dubin-Johnson syndrome 0 0 10 1 0 0 11
Ehlers-Danlos syndrome, classic type 0 0 11 0 0 0 11
Epidermolysis bullosa simplex 7, with nephropathy and deafness; RAPH BLOOD GROUP SYSTEM 0 0 4 7 0 0 11
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; DICER1-related tumor predisposition 0 1 10 0 0 0 11
Gastrointestinal stromal tumor; Mastocytosis; Piebaldism; Malignant tumor of testis; Acute myeloid leukemia 0 0 11 0 0 0 11
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 5 2 1 1 2 0 11
Hereditary acrodermatitis enteropathica 0 5 2 3 1 0 11
Hereditary spastic paraplegia 49 1 0 9 1 0 0 11
Hermansky-Pudlak syndrome 3 5 2 3 1 0 0 11
Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 0 1 8 1 1 0 11
Intellectual disability, autosomal dominant 1 0 0 10 1 0 0 11
Isovaleryl-CoA dehydrogenase deficiency 3 5 2 1 0 0 11
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 1 1 9 0 0 0 11
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 2 0 9 0 0 0 11
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 4 4 2 0 0 11
Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 4 1 3 2 1 0 11
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 3 6 2 0 0 11
Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K 5 2 3 1 0 0 11
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2 0 6 2 1 0 11
Neuronal ceroid lipofuscinosis 10 0 0 4 7 0 0 11
Neuronal ceroid lipofuscinosis 5 3 1 7 0 0 0 11
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Osteoporosis; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 3 0 3 5 0 0 11
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 6 1 4 0 0 0 11
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency 2 1 5 3 0 0 11
Retinitis pigmentosa 13 0 1 2 6 2 0 11
Retinitis pigmentosa 43 2 2 7 0 0 0 11
Retinitis pigmentosa 86 0 0 3 8 0 0 11
Seckel syndrome 1; Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 7 4 0 0 11
Sitosterolemia 2 1 0 8 2 0 0 11
Spongy degeneration of central nervous system 3 5 1 1 1 0 11
Succinate-semialdehyde dehydrogenase deficiency 4 1 5 1 0 0 11
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 6 3 2 0 0 0 11
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 4 5 2 0 11
Ventriculomegaly-cystic kidney disease; Focal segmental glomerulosclerosis 9 1 1 2 6 1 0 11
Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 0 1 7 2 1 0 11
not specified 0 0 10 1 0 0 11
Acute myeloid leukemia 0 0 8 2 0 0 10
Aicardi-Goutieres syndrome 2 1 3 3 2 1 0 10
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 2 0 7 1 0 0 10
Autosomal dominant nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 21 0 1 9 0 0 0 10
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 7 2 1 0 10
Autosomal recessive nonsyndromic hearing loss 30 0 0 8 2 0 0 10
Autosomal recessive nonsyndromic hearing loss 84B 2 3 5 0 0 0 10
BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 0 0 7 3 0 0 10
Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 0 3 6 1 0 0 10
Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis 0 0 3 7 0 0 10
Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1 1 0 5 4 0 0 10
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 6 1 3 0 0 0 10
Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 1 5 3 1 0 10
Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8 1 0 7 2 0 0 10
Congenital generalized lipodystrophy type 3; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; Pulmonary hypertension, primary, 3 0 0 4 5 1 0 10
Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea; Corneal dystrophy, Fuchs endothelial, 4 2 3 5 0 0 0 10
DNA ligase IV deficiency; Multiple myeloma 2 0 8 0 0 0 10
Deficiency of iodide peroxidase 3 2 5 0 0 0 10
Developmental and epileptic encephalopathy, 30 0 0 5 5 0 0 10
Dilated cardiomyopathy 2B 0 0 9 0 1 0 10
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; Methemoglobinemia, beta-globin type; Erythrocytosis, familial, 6 8 2 0 0 0 0 10
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 3 2 4 1 0 0 10
Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5 0 0 7 2 1 0 10
Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of genetic origin 2 1 4 3 0 0 10
Familial meningioma; Neurofibromatosis, type 2; Schwannomatosis 1 0 0 8 2 0 0 10
Feingold syndrome type 1 0 0 3 7 0 0 10
Fibrous dysplasia of jaw 0 1 5 4 0 0 10
Fish-eye disease; Norum disease 3 2 3 2 0 0 10
Guttmacher syndrome; Hand-foot-genital syndrome 0 0 6 3 1 0 10
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 0 4 6 0 0 10
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 1 2 3 3 1 0 10
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 3 1 4 2 0 0 10
Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked 1 2 1 5 1 0 10
Holocarboxylase synthetase deficiency 3 1 5 1 0 0 10
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 4 3 2 0 10
Hyperphosphatasia with intellectual disability syndrome 2 1 1 6 2 0 0 10
Inherited Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Fatal familial insomnia; Huntington disease-like 1; Kuru, susceptibility to; Spongiform encephalopathy with neuropsychiatric features 1 1 3 4 1 0 10
Interstitial lung disease due to ABCA3 deficiency 0 0 8 2 0 0 10
Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 5 5 0 0 10
Leber congenital amaurosis 13 4 2 4 0 0 0 10
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 0 0 4 4 2 0 10
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 1 0 7 1 1 0 10
Microcephaly 7, primary, autosomal recessive 0 0 9 1 0 0 10
Mitochondrial complex 4 deficiency, nuclear type 8 1 0 4 5 0 0 10
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 1 2 6 1 0 0 10
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 0 0 8 2 0 0 10
Multiple endocrine neoplasia type 4 0 0 6 3 1 0 10
Nemaline myopathy 2 3 1 6 0 0 0 10
Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset 3 3 4 0 0 0 10
Neuronal ceroid lipofuscinosis 3 1 0 7 2 0 0 10
Noonan syndrome 8 5 1 4 0 0 0 10
Noonan syndrome-like disorder with loose anagen hair 1 1 0 5 3 1 0 10
Oculocutaneous albinism type 3; Skin/hair/eye pigmentation, variation in, 11 2 2 5 1 0 0 10
Oligodontia-cancer predisposition syndrome; Carcinoma of colon 0 0 9 0 1 0 10
Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2 0 8 0 0 0 10
Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 4 0 4 1 1 0 10
Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 5 2 1 7 0 0 0 10
Prader-Willi syndrome; Schaaf-Yang syndrome 1 0 6 3 0 0 10
Primary hypomagnesemia 0 3 4 1 2 0 10
Renal dysplasia, cystic, susceptibility to 0 0 6 2 2 0 10
Renal hypomagnesemia 2 0 0 1 7 2 0 10
Retinitis pigmentosa 28 3 2 5 0 0 0 10
Revesz syndrome; Dyskeratosis congenita, autosomal dominant 1; Dyskeratosis congenita, autosomal dominant 3 1 0 6 3 0 0 10
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2 0 8 0 0 0 10
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 1 0 4 5 0 0 10
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 1 1 6 1 1 0 10
Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 2 0 7 0 1 0 10
Stüve-Wiedemann syndrome 1 1 1 5 2 1 0 10
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 3 0 1 4 2 0 10
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 4 5 1 0 10
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 0 2 5 0 0 9
Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome 0 0 8 1 0 0 9
Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 0 4 5 0 0 0 9
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2 0 0 9 0 0 0 9
Apparent mineralocorticoid excess 1 1 3 4 0 0 9
Arrhythmogenic right ventricular dysplasia 13 0 0 8 1 0 0 9
Arterial tortuosity syndrome 0 1 6 2 0 0 9
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 1 1 3 4 0 0 9
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 0 4 3 2 0 9
Autosomal dominant nonsyndromic hearing loss 22; Autosomal recessive nonsyndromic hearing loss 37 1 0 4 0 4 0 9
Autosomal recessive ataxia due to ubiquinone deficiency 1 0 2 4 2 0 9
Autosomal recessive limb-girdle muscular dystrophy type 2E 2 1 6 0 0 0 9
Autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia 44 0 0 2 7 0 0 9
Brown-Vialetto-van Laere syndrome 1; Progressive bulbar palsy of childhood 0 0 3 2 4 0 9
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 0 6 3 0 0 9
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome; Retinitis pigmentosa and erythrocytic microcytosis 0 2 6 1 0 0 9
Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 0 0 7 2 0 0 9
Deficiency of hydroxymethylglutaryl-CoA lyase 3 1 5 0 0 0 9
Dermatitis, atopic, 2; Ichthyosis vulgaris 3 4 0 2 0 0 9
Developmental and epileptic encephalopathy, 23 0 1 6 2 0 0 9
Developmental and epileptic encephalopathy, 69 1 0 2 5 1 0 9
Diamond-Blackfan anemia 3 0 0 2 5 2 0 9
Diamond-Blackfan anemia 8 0 0 3 6 0 0 9
Diamond-Blackfan anemia 9 0 0 2 7 0 0 9
Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 0 1 8 0 0 0 9
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer 0 0 3 6 0 0 9
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1 1 0 4 3 1 0 9
Gorlin syndrome; Medulloblastoma; Familial meningioma; Joubert syndrome 32 0 0 8 0 1 0 9
Lethal osteosclerotic bone dysplasia 0 0 2 6 1 0 9
Leukocyte adhesion deficiency 1 0 1 6 2 0 0 9
Microcephaly and chorioretinopathy 1 0 0 5 4 0 0 9
Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 0 0 9 0 0 0 9
Myocardial infarction, susceptibility to; Congenital factor VII deficiency 3 4 1 1 0 0 9
Ornithine carbamoyltransferase deficiency 2 2 3 1 1 0 9
Parkinsonian-pyramidal syndrome 0 0 6 3 0 0 9
Patterned macular dystrophy 2 0 0 4 5 0 0 9
Pituitary hormone deficiency, combined, 2 5 0 3 0 1 0 9
Pityriasis rubra pilaris; Psoriasis 2 0 0 4 4 1 0 9
Pontocerebellar hypoplasia type 2D 1 5 3 0 0 0 9
Predisposition to invasive fungal disease due to CARD9 deficiency 1 1 7 0 0 0 9
Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without autism or seizures 0 0 3 5 1 0 9
Retinitis pigmentosa; Retinitis pigmentosa 61; Usher syndrome type 3A 5 1 3 0 0 0 9
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 0 0 7 2 0 0 9
Severe combined immunodeficiency due to DNA-PKcs deficiency 0 0 5 3 1 0 9
Sialic acid storage disease, severe infantile type; Salla disease 3 1 4 1 0 0 9
Skin/hair/eye pigmentation, variation in, 5; Oculocutaneous albinism type 4 1 0 6 0 2 0 9
Telangiectasia, hereditary hemorrhagic, type 5 0 0 3 5 1 0 9
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 1 1 2 4 1 0 9
Xeroderma pigmentosum group A 4 1 3 1 0 0 9
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 7 0 0 8
ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 0 0 4 3 1 0 8
Abetalipoproteinaemia; Metabolic syndrome X 1 2 4 0 1 0 8
Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 0 0 6 2 0 0 8
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon 5 0 3 0 0 0 8
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Neoplasm of stomach; Bent bone dysplasia syndrome 1 6 1 1 0 0 0 8
Adams-Oliver syndrome 2 0 1 2 5 0 0 8
Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 0 0 3 5 0 0 8
Agenesis of the corpus callosum with peripheral neuropathy 1 2 3 2 0 0 8
Aicardi-Goutieres syndrome 4 0 1 7 0 0 0 8
Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome 1 0 2 5 0 0 8
Amyotrophic lateral sclerosis type 2, juvenile; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis 2 1 2 3 0 0 8
Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity 0 0 2 6 0 0 8
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 0 2 6 0 0 8
Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency 0 0 2 4 2 0 8
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 3 5 0 0 8
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 8 0 0 0 8
Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50 4 0 1 1 2 0 8
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 1 1 4 2 0 0 8
Autosomal recessive early-onset Parkinson disease 7 1 1 3 3 0 0 8
Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 0 0 6 2 0 0 8
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6 0 0 8 0 0 0 8
Cardiofaciocutaneous syndrome 1; Lung carcinoma; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 2 3 3 0 0 0 8
Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma 5 0 3 0 0 0 8
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive 0 0 2 6 0 0 8
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 0 0 3 4 1 0 8
Colorectal cancer, susceptibility to, 1 0 0 7 1 0 0 8
Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 0 0 4 2 2 0 8
Combined oxidative phosphorylation defect type 27 0 0 6 2 0 0 8
Congenital microvillous atrophy; Cholestasis, progressive familial intrahepatic, 10 0 0 2 5 1 0 8
Congenital myasthenic syndrome 8 0 0 5 3 0 0 8
Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 0 0 5 3 0 0 8
Developmental and epileptic encephalopathy, 4 5 0 0 3 0 0 8
Dystonia 16 1 0 3 3 1 0 8
Epilepsy, familial adult myoclonic, 5 0 0 4 3 1 0 8
Familial adenomatous polyposis 3 0 2 5 1 0 0 8
Focal segmental glomerulosclerosis 8 0 0 4 3 1 0 8
GNPTG-mucolipidosis 0 3 4 1 0 0 8
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4 1 0 3 4 0 0 8
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 0 0 2 6 0 0 8
Glycogen storage disease, type VI 0 0 6 0 2 0 8
Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome 1 1 5 0 1 0 8
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7 5 1 2 0 0 0 8
Hereditary insensitivity to pain with anhidrosis 1 0 6 1 0 0 8
Hyperalphalipoproteinemia 1 0 0 3 3 2 0 8
Hyperphosphatasia with intellectual disability syndrome 1 1 0 4 2 1 0 8
Hypophosphatemic nephrolithiasis/osteoporosis 2 0 0 5 3 0 0 8
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 1 1 5 0 0 8
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 3 1 4 0 0 8
Intellectual disability, X-linked syndromic, Turner type 1 0 1 6 0 0 8
Joubert syndrome 8 0 0 7 1 0 0 8
Lewy body dementia; Autosomal dominant Parkinson disease 1; Autosomal dominant Parkinson disease 4 0 0 2 5 1 0 8
Lipase deficiency, combined 0 0 2 5 1 0 8
Lysosomal acid lipase deficiency 4 0 4 0 0 0 8
MOGS-congenital disorder of glycosylation 1 0 5 2 0 0 8
Methylmalonic aciduria, cblA type 2 1 5 0 0 0 8
Mitochondrial complex 1 deficiency, nuclear type 16 0 2 4 2 0 0 8
Mitochondrial complex 1 deficiency, nuclear type 5 1 0 4 2 1 0 8
Moyamoya disease 2 0 0 0 7 1 0 8
Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness 0 0 6 2 0 0 8
Multiple endocrine neoplasia, type 1 0 0 5 1 2 0 8
Multiple sulfatase deficiency 3 1 4 0 0 0 8
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 2 0 6 0 0 0 8
Myopathy, proximal, and ophthalmoplegia 0 0 3 5 0 0 8
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 6 1 0 8
Neuronal ceroid lipofuscinosis 1 3 1 4 0 0 0 8
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 0 1 5 2 0 8
Obesity, hyperphagia, and developmental delay; Developmental and epileptic encephalopathy, 58 0 0 1 7 0 0 8
Osteodysplastic primordial dwarfism, type 1; Lowry-Wood syndrome; Roifman syndrome 4 2 1 1 0 0 8
Peroxisome biogenesis disorder 13A (Zellweger) 0 0 5 3 0 0 8
Porencephaly 2; Hemorrhage, intracerebral, susceptibility to 0 0 2 6 0 0 8
Primary ciliary dyskinesia 10 0 0 6 2 0 0 8
Primary ciliary dyskinesia 20 1 1 5 0 1 0 8
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 0 0 5 1 2 0 8
Pyknodysostosis 2 2 4 0 0 0 8
Retinitis pigmentosa 1 0 1 3 4 0 0 8
Retinitis pigmentosa 26 2 2 4 0 0 0 8
Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 1 0 1 5 1 0 8
Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive 2 0 6 0 0 0 8
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis 2 0 2 4 0 0 8
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 1 5 1 1 0 8
Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 0 1 7 0 0 0 8
Trichohepatoenteric syndrome 1 1 2 2 3 0 0 8
Usher syndrome type 2C; Usher syndrome type 2A; Hearing loss, autosomal recessive 57 0 1 5 1 1 0 8
Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; Transferrin serum level quantitative trait locus 2; Familial porphyria cutanea tarda 1 1 6 0 0 0 8
Vitiligo-associated multiple autoimmune disease susceptibility 1; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome; Autoinflammation with arthritis and dyskeratosis; Respiratory papillomatosis, juvenile recurrent, congenital 0 0 4 4 0 0 8
3-methylglutaconic aciduria type 1 1 0 4 1 1 0 7
Age related macular degeneration 1 0 0 1 6 0 0 7
Aicardi-Goutieres syndrome 3 1 0 3 2 1 0 7
Aicardi-Goutieres syndrome 5; Chilblain lupus 2 1 3 2 1 0 0 7
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98 1 0 3 3 0 0 7
Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4; Age related macular degeneration 1; Sea-blue histiocyte syndrome; Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia 0 1 3 3 0 0 7
Aortic aneurysm, familial thoracic 4 0 0 7 0 0 0 7
Aortic aneurysm, familial thoracic 8 0 0 5 1 1 0 7
Arginase deficiency 2 3 1 1 0 0 7
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease 0 0 6 1 0 0 7
Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 0 2 3 2 0 0 7
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 2 1 4 0 0 0 7
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; X-linked mixed hearing loss with perilymphatic gusher; Hidrotic ectodermal dysplasia syndrome 2 0 3 1 1 0 7
BAP1-related tumor predisposition syndrome 1 0 6 0 0 0 7
Beta-D-mannosidosis 1 2 4 0 0 0 7
Bohring-Opitz syndrome; Myelodysplastic syndrome 0 1 0 6 0 0 7
Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopathy, diffuse hereditary, with spheroids 1 1 0 2 1 3 0 7
COG7 congenital disorder of glycosylation 0 0 3 3 1 0 7
Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis 0 1 6 0 0 0 7
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 0 6 1 0 7
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 1 4 1 0 7
Charcot-Marie-Tooth disease X-linked dominant 1 3 0 2 2 0 0 7
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 1 0 1 4 1 0 7
Charcot-Marie-Tooth disease type 4B2 0 0 5 1 1 0 7
Charcot-Marie-Tooth disease type 4B3 0 0 6 1 0 0 7
Childhood apraxia of speech 0 1 2 3 1 0 7
Chromosome 2q32-q33 deletion syndrome 2 0 3 2 0 0 7
Chudley-McCullough syndrome 3 0 3 1 0 0 7
Cockayne syndrome type 1; UV-sensitive syndrome 2 4 1 1 1 0 0 7
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 3 3 0 0 0 7
Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa 40 3 1 1 2 0 0 7
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 5 2 0 0 7
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome 0 1 5 1 0 0 7
Diamond-Blackfan anemia 7 0 0 3 3 1 0 7
Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 0 7 0 0 0 7
Early infantile epileptic encephalopathy with suppression bursts 0 0 7 0 0 0 7
Elliptocytosis 2; Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 1 0 0 4 2 0 7
Epilepsy, progressive myoclonic, 1B 0 0 5 2 0 0 7
Epileptic encephalopathy 0 0 7 0 0 0 7
Familial hemophagocytic lymphohistiocytosis 5 2 0 2 2 1 0 7
Familial hypocalciuric hypercalcemia 3 1 0 1 5 0 0 7
Familial isolated deficiency of vitamin E 3 1 2 1 0 0 7
Familial temporal lobe epilepsy 5; Febrile seizures, familial, 11 0 0 6 1 0 0 7
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 3 1 0 4 1 1 0 7
Glycogen storage disease IXa1 0 0 2 4 1 0 7
Glycogen storage disease XV; Polyglucosan body myopathy type 2 1 1 2 2 1 0 7
Glycogen storage disorder due to hepatic glycogen synthase deficiency 5 0 0 2 0 0 7
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1 0 0 2 3 2 0 7
Hereditary spastic paraplegia 4 0 3 1 3 0 0 7
Hermansky-Pudlak syndrome 6 0 0 6 1 0 0 7
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 2 3 1 0 0 7
Hyperprolinemia type 2 0 1 6 0 0 0 7
Hypohidrotic X-linked ectodermal dysplasia; Tooth agenesis, selective, X-linked, 1 3 2 1 0 1 0 7
Immunodeficiency 104 2 0 3 1 1 0 7
Immunodeficiency 104; Hepatitis C virus, susceptibility to 0 0 3 2 2 0 7
Immunodeficiency 39 0 0 5 2 0 0 7
Immunodeficiency 66 0 0 5 2 0 0 7
Infantile cerebellar-retinal degeneration; Optic atrophy 9 0 0 4 3 0 0 7
Intellectual developmental disorder with autism and macrocephaly 0 1 3 3 0 0 7
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 0 4 3 0 0 7
Intellectual disability, autosomal recessive 3 0 0 5 1 1 0 7
Kabuki syndrome 1; Kabuki syndrome 2 1 0 3 2 1 0 7
Kostmann syndrome 2 2 3 0 0 0 7
Lissencephaly 9 with complex brainstem malformation 0 0 1 6 0 0 7
Luscan-Lumish syndrome 0 0 5 2 0 0 7
Majeed syndrome 0 1 6 0 0 0 7
Mandibulofacial dysostosis with alopecia; Migraine with or without aura, susceptibility to, 1 0 0 0 6 1 0 7
Megalencephalic leukoencephalopathy with subcortical cysts 1; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 0 0 5 2 0 0 7
Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive 0 0 4 3 0 0 7
Methylmalonic acidemia with homocystinuria, type cblX 0 0 4 3 0 0 7
Microphthalmia with brain and digit anomalies; Orofacial cleft 11 0 0 5 2 0 0 7
Microphthalmia, syndromic 1; Oculofaciocardiodental syndrome 0 0 2 5 0 0 7
Mitochondrial DNA deletion syndrome with progressive myopathy; Seckel syndrome 8 0 0 0 5 2 0 7
Mitochondrial complex I deficiency, nuclear type 1 1 2 4 0 0 0 7
Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome; Spinocerebellar ataxia 49 0 0 2 5 0 0 7
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Carcinoma of colon 0 0 7 0 0 0 7
Myoclonic-astatic epilepsy 1 0 3 3 0 0 7
Nephronophthisis 14 0 0 4 3 0 0 7
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 0 0 2 5 0 0 7
Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal 1 3 2 1 1 0 0 7
Parkinson disease 17 1 0 4 2 0 0 7
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 0 1 3 2 1 0 7
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 2 2 3 0 0 0 7
Pheochromocytoma 0 0 4 3 0 0 7
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 0 0 5 2 0 0 7
Pontocerebellar hypoplasia type 1A 1 2 3 1 0 0 7
Pontocerebellar hypoplasia type 1B 2 3 2 0 0 0 7
Pontocerebellar hypoplasia type 3 0 0 3 4 0 0 7
Primary ciliary dyskinesia 11 5 0 2 0 0 0 7
Prostate cancer, hereditary, 9 0 0 7 0 0 0 7
Pyridoxine-dependent epilepsy 2 1 2 2 0 0 7
RIN2 syndrome 0 0 2 4 1 0 7
Retinitis pigmentosa 54 0 0 4 3 0 0 7
Retinitis pigmentosa; Retinitis pigmentosa 49 1 3 3 0 0 0 7
Spinocerebellar ataxia type 13 1 0 3 3 0 0 7
Steel syndrome 1 2 0 2 2 0 7
Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 7 0 0 5 2 0 0 7
T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 0 3 2 1 0 7
UDPglucose-4-epimerase deficiency 0 4 3 0 0 0 7
Wolfram syndrome 2 0 0 3 4 0 0 7
Wooly hair-palmoplantar keratoderma syndrome; Nephrotic syndrome 16 0 0 4 3 0 0 7
3-Methylglutaconic aciduria type 3; Optic atrophy 3 1 0 3 1 1 0 6
3-methylglutaconic aciduria, type VIIB; Neutropenia, severe congenital, 9, autosomal dominant; 3-methylglutaconic aciduria, type VIIA 1 1 3 1 0 0 6
3M syndrome 1 1 0 3 2 0 0 6
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 3 1 2 0 0 0 6
Alexander disease 0 0 5 1 0 0 6
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3 2 2 2 0 0 0 6
Atrial fibrillation, familial, 6; Atrial standstill 2 0 0 4 2 0 0 6
Autism spectrum disorder due to AUTS2 deficiency 0 0 1 5 0 0 6
Autosomal dominant nonsyndromic hearing loss 25 0 0 2 2 2 0 6
Autosomal recessive nonsyndromic hearing loss 36; Usher syndrome, type 1M 0 0 2 4 0 0 6
Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa; Retinitis pigmentosa 55 0 0 4 2 0 0 6
Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 1 1 3 0 1 0 6
Biotin-responsive basal ganglia disease 1 2 1 2 0 0 6
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma 1 1 4 0 0 0 6
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; Branchiootorenal syndrome 1 1 0 0 5 0 0 6
COACH syndrome 1; Joubert syndrome 7; Meckel syndrome, type 5 1 1 4 0 0 0 6
COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 1 0 1 4 0 0 6
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3 1 1 3 1 0 0 6
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 1 1 4 0 0 6
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy 0 0 1 4 1 0 6
Combined immunodeficiency due to DOCK8 deficiency 0 0 5 1 0 0 6
Complement component 2 deficiency; Age related macular degeneration 14 1 0 1 3 1 0 6
Complement component 9 deficiency; Age related macular degeneration 15 0 3 2 1 0 0 6
Complete trisomy 21 syndrome; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Beta-thalassemia-X-linked thrombocytopenia syndrome; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 0 1 3 2 0 0 6
Cone-rod dystrophy 13; Leber congenital amaurosis 6 2 0 3 1 0 0 6
Congenital defect of folate absorption 0 1 5 0 0 0 6
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 0 0 4 0 0 6
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 4 2 0 0 0 6
Cutis laxa, autosomal recessive, type 1B 0 0 5 1 0 0 6
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11 2 0 4 0 0 0 6
Deficiency of beta-ureidopropionase 2 0 3 1 0 0 6
Deficiency of butyrylcholinesterase 3 0 3 0 0 0 6
Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4F 0 0 2 2 2 0 6
Developmental and epileptic encephalopathy, 12 0 0 5 1 0 0 6
Developmental and epileptic encephalopathy, 26 1 1 0 3 1 0 6
Developmental and epileptic encephalopathy, 31 1 0 1 3 1 0 6
Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 6 0 0 0 6
Developmental and epileptic encephalopathy, 54 0 0 4 2 0 0 6
Developmental and epileptic encephalopathy, 65 0 0 1 5 0 0 6
Diamond-Blackfan anemia 11 0 0 1 4 1 0 6
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 6 0 0 0 6
Dyskinesia with orofacial involvement, autosomal dominant; Dyskinesia with orofacial involvement, autosomal recessive; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0 0 1 5 0 0 6
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 0 0 4 2 0 0 6
Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized; Naegeli-Franceschetti-Jadassohn syndrome 0 0 0 1 5 0 6
Epilepsy, familial temporal lobe, 1 0 1 3 2 0 0 6
Factor V deficiency; Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1 0 0 1 4 1 0 6
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant 3 2 1 0 0 0 6
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Tracheoesophageal fistula 4 0 2 0 0 0 6
Familial visceral amyloidosis, Ostertag type; Hypoproteinemia, hypercatabolic 0 1 2 3 0 0 6
Fasting plasma glucose level quantitative trait locus 5 0 0 6 0 0 0 6
Gamma-aminobutyric acid transaminase deficiency 0 0 3 3 0 0 6
Gastrointestinal stromal tumor; Idiopathic hypereosinophilic syndrome 0 0 6 0 0 0 6
Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Parkinson disease 24, autosomal dominant, susceptibility to 0 1 4 0 1 0 6
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 0 0 4 2 0 0 6
Glutamate formiminotransferase deficiency 1 0 5 0 0 0 6
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 0 5 1 0 0 6
Growth delay due to insulin-like growth factor I resistance 0 0 2 3 1 0 6
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 0 0 4 1 1 0 6
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7 5 1 0 0 0 0 6
Hirschsprung disease, susceptibility to, 3 0 0 1 4 1 0 6
Immunodeficiency 78 with autoimmunity and developmental delay 0 0 5 1 0 0 6
Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 0 1 5 0 0 0 6
Intellectual disability, X-linked 1 0 0 3 2 1 0 6
Intellectual disability, autosomal dominant 43 0 0 0 6 0 0 6
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 0 0 4 0 0 6
Jawad syndrome; Seckel syndrome 2 0 0 5 1 0 0 6
Joubert syndrome 2; Meckel syndrome, type 2 2 3 1 0 0 0 6
Juvenile cataract-microcornea-renal glucosuria syndrome 0 0 5 1 0 0 6
Lafora disease 1 1 3 1 0 0 6
Leber congenital amaurosis 5 2 0 4 0 0 0 6
Lethal tight skin contracture syndrome; Mandibuloacral dysplasia with type B lipodystrophy 1 1 2 2 0 0 6
Leukocyte adhesion deficiency type II 0 0 6 0 0 0 6
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2 1 0 3 0 0 6
Macular corneal dystrophy 2 2 2 0 0 0 6
Medulloblastoma; Pilomatrixoma; Neoplasm of ovary; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7 1 0 1 4 0 0 6
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 0 6 0 0 6
Mitochondrial complex 4 deficiency, nuclear type 7 0 0 3 3 0 0 6
Mucolipidosis type IV 4 1 0 1 0 0 6
Mucopolysaccharidosis, MPS-III-D 0 0 4 2 0 0 6
Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 1 0 2 3 0 0 6
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 0 3 3 0 6
Neurohypophyseal diabetes insipidus 2 0 0 4 0 0 6
Neuropathy, hereditary sensory and autonomic, type 1A 0 1 4 1 0 0 6
Niemann-Pick disease, type C2 1 0 4 1 0 0 6
Non-acquired combined pituitary hormone deficiency with spine abnormalities 0 0 4 2 0 0 6
Nonimmune chronic idiopathic neutropenia of adults; Neutropenia, severe congenital, 2, autosomal dominant 0 0 2 3 1 0 6
Noonan syndrome 2; Schwannomatosis 2; Noonan syndrome 10 0 3 2 1 0 0 6
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-danlos syndrome, arthrochalasia type, 2 2 0 4 0 0 0 6
Pachyonychia congenita 3 3 2 0 1 0 0 6
Peroxisome biogenesis disorder 12A (Zellweger) 0 0 3 3 0 0 6
Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome 0 0 6 0 0 0 6
Primary ciliary dyskinesia 2 2 0 3 1 0 0 6
Primary ciliary dyskinesia 23 0 0 2 2 2 0 6
Progressive familial intrahepatic cholestasis type 1; Cholestasis, intrahepatic, of pregnancy, 1; Benign recurrent intrahepatic cholestasis type 1 0 0 3 2 1 0 6
Pyruvate dehydrogenase E3 deficiency 2 0 2 2 0 0 6
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 3 2 0 0 6
Pyruvate kinase hyperactivity; Pyruvate kinase deficiency of red cells 2 1 3 0 0 0 6
Rafiq syndrome 0 0 5 1 0 0 6
Retinitis pigmentosa 33 0 0 1 5 0 0 6
Retinitis pigmentosa 84 0 0 5 1 0 0 6
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 0 1 5 0 0 6
Sjögren-Larsson syndrome 2 1 2 1 0 0 6
Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 0 0 5 1 0 0 6
Stromme syndrome 2 0 3 1 0 0 6
Timothy syndrome; Brugada syndrome 3 0 0 6 0 0 0 6
Type II complement component 8 deficiency 1 1 3 1 0 0 6
Usher syndrome type 1G 0 2 3 0 1 0 6
Vici syndrome 1 0 3 2 0 0 6
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 1 0 3 2 0 0 6
X-linked dystonia-parkinsonism; Intellectual disability, X-linked, syndromic 33 0 0 0 5 1 0 6
X-linked intellectual disability, Cantagrel type 1 0 4 1 0 0 6
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 0 2 4 0 0 6
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2 1 2 0 0 0 5
AICA-ribosiduria 0 0 0 5 0 0 5
Absence seizure; Juvenile myoclonic epilepsy 0 0 5 0 0 0 5
Achondrogenesis, type IA; Odontochondrodysplasia 1 0 0 3 2 0 0 5
Achromatopsia 2 3 0 2 0 0 0 5
Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 2 3 0 0 5
Acute myeloid leukemia; Sotos syndrome 2 0 3 0 0 0 5
Alacrima, achalasia, and intellectual disability syndrome 0 1 0 4 0 0 5
Aminoacylase 1 deficiency 1 1 3 0 0 0 5
Aortic aneurysm, familial thoracic 7 0 0 5 0 0 0 5
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 0 1 4 0 0 5
Autoimmune interstitial lung disease-arthritis syndrome 0 0 2 3 0 0 5
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 0 0 0 4 1 0 5
Autosomal dominant nonsyndromic hearing loss 40 0 0 3 1 1 0 5
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1 0 0 2 3 0 0 5
Autosomal recessive nonsyndromic hearing loss 42 0 1 3 0 1 0 5
Autosomal recessive nonsyndromic hearing loss 48; Usher syndrome type 1J 0 2 2 1 0 0 5
Autosomal recessive nonsyndromic hearing loss 49 0 0 5 0 0 0 5
Bernard Soulier syndrome 2 0 2 1 0 0 5
Body mass index quantitative trait locus 4 0 0 2 3 0 0 5
Brachydactyly type E1; Brachydactyly type D; Syndactyly type 5; Brachydactyly-syndactyly syndrome; Synpolydactyly type 1 2 0 3 0 0 0 5
Brown-Vialetto-van Laere syndrome 2 0 0 5 0 0 0 5
Bruck syndrome 1; Osteogenesis imperfecta type 11 0 0 2 1 2 0 5
Bullous ichthyosiform erythroderma; Congenital reticular ichthyosiform erythroderma; Annular epidermolytic ichthyosis 1 0 1 2 1 0 5
Carnitine acylcarnitine translocase deficiency 2 1 2 0 0 0 5
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 0 0 3 2 0 0 5
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 0 1 1 3 0 0 5
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Fetal akinesia-cerebral and retinal hemorrhage syndrome 1 0 2 1 1 0 5
Chromosome 2q37 deletion syndrome; Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 2 3 0 0 5
Chronic myelogenous leukemia, BCR-ABL1 positive; Congenital heart defects and skeletal malformations syndrome 0 0 0 5 0 0 5
Cleidocranial dysostosis; Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2 0 1 1 1 0 5
Cone-rod dystrophy 5 0 0 1 4 0 0 5
Congenital bile acid synthesis defect 4; Alpha-methylacyl-CoA racemase deficiency 0 0 4 1 0 0 5
Congenital disorder of deglycosylation 0 1 4 0 0 0 5
Congenital disorder of deglycosylation 1 1 0 3 1 0 0 5
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 3 0 0 2 0 0 5
Congenital lactase deficiency 1 0 2 1 1 0 5
Congenital stationary night blindness 1C 0 1 2 1 1 0 5
Congenital stationary night blindness 1E 0 0 3 2 0 0 5
Creatine transporter deficiency 0 0 1 4 0 0 5
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 0 1 4 0 0 0 5
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 1 4 0 0 0 5
Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4 0 0 4 1 0 0 5
Deficiency of cytochrome-b5 reductase 2 1 2 0 0 0 5
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 2 1 2 0 0 0 5
Developmental and epileptic encephalopathy, 2 1 0 3 1 0 0 5
Developmental and epileptic encephalopathy, 25 1 1 3 0 0 0 5
Diamond-Blackfan anemia 5 0 0 2 3 0 0 5
Dyskeratosis congenita, autosomal recessive 3 0 0 4 1 0 0 5
Episodic ataxia type 6 0 0 1 4 0 0 5
Ethylmalonic encephalopathy 2 1 2 0 0 0 5
Factor XII deficiency disease; Hereditary angioedema type 3 1 0 0 4 0 0 5
Familial gestational hyperthyroidism; Familial hyperthyroidism due to mutations in TSH receptor; Hypothyroidism due to TSH receptor mutations 0 4 1 0 0 0 5
Familial hemophagocytic lymphohistiocytosis 4 0 0 3 2 0 0 5
Galloway-Mowat syndrome 4 0 0 3 2 0 0 5
Giant axonal neuropathy 1 0 1 3 1 0 0 5
Glucocorticoid deficiency with achalasia 3 0 2 0 0 0 5
Glycogen storage disease due to muscle beta-enolase deficiency 0 0 1 4 0 0 5
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2 1 2 0 0 0 5
H syndrome 0 1 3 1 0 0 5
Hawkinsinuria; Tyrosinemia type III 0 0 1 3 1 0 5
Hearing loss, X-linked 6 0 0 0 2 3 0 5
Hepatic methionine adenosyltransferase deficiency 2 0 3 0 0 0 5
Hereditary spastic paraplegia 3A; Neuropathy, hereditary sensory, type 1D 0 0 1 3 1 0 5
Hereditary spastic paraplegia 50 0 0 2 3 0 0 5
Hereditary spherocytosis type 1 1 0 0 4 0 0 5
Hermansky-Pudlak syndrome 10 0 0 3 2 0 0 5
Heterotaxy, visceral, 8, autosomal 0 0 0 2 3 0 5
Holoprosencephaly 5 0 0 3 2 0 0 5
Hyperekplexia 1 1 1 3 0 0 0 5
Hyperekplexia 1; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0 0 3 2 0 0 5
Hypertrophic cardiomyopathy 1 0 0 5 0 0 0 5
Hypoalphalipoproteinemia, primary, 1; Tangier disease 0 0 0 3 2 0 5
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration 2 0 2 1 0 0 5
Idiopathic generalized epilepsy 0 0 5 0 0 0 5
Immunodeficiency 96 0 0 4 1 0 0 5
Intellectual disability, autosomal dominant 14 0 0 2 3 0 0 5
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 0 2 1 2 0 0 5
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 3 2 0 0 5
Interstitial lung disease 2 0 0 2 2 1 0 5
Isolated microphthalmia 5; Nanophthalmos 2 2 1 1 1 0 0 5
Joubert syndrome 21 2 0 2 1 0 0 5
Joubert syndrome 33 0 0 0 4 1 0 5
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 0 3 2 0 0 5
L-2-hydroxyglutaric aciduria 1 0 2 2 0 0 5
Left ventricular noncompaction 7 0 0 4 1 0 0 5
Lethal Kniest-like syndrome; Schwartz-Jampel syndrome 0 0 5 0 0 0 5
Lethal multiple pterygium syndrome; Congenital myasthenic syndrome 3A; Congenital myasthenic syndrome 3B; Congenital myasthenic syndrome 3C 0 0 4 1 0 0 5
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 0 0 3 2 0 0 5
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 0 5 0 0 5
Methylmalonate semialdehyde dehydrogenase deficiency 0 0 0 5 0 0 5
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 4 1 0 0 5
Methylmalonic aciduria and homocystinuria type cblD 0 0 4 1 0 0 5
Methylmalonic aciduria and homocystinuria type cblF 1 0 1 3 0 0 5
Microcephaly and chorioretinopathy 2 0 0 3 2 0 0 5
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 1 2 1 0 5
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 4 0 0 5
Mitochondrial DNA depletion syndrome 13 1 3 1 0 0 0 5
Mitochondrial complex 4 deficiency, nuclear type 12 1 0 3 1 0 0 5
Mullerian aplasia and hyperandrogenism; SERKAL syndrome 0 0 1 3 1 0 5
Mungan syndrome; Cornelia de Lange syndrome 4 0 0 1 3 1 0 5
Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76 1 0 4 0 0 0 5
Myeloperoxidase deficiency; Alzheimer disease type 1 2 2 0 1 0 0 5
Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 0 0 4 1 0 0 5
Nephrotic syndrome, type 12 0 0 3 1 1 0 5
Netherton syndrome 1 0 2 2 0 0 5
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 2 3 0 0 5
Obesity due to pro-opiomelanocortin deficiency; Obesity 1 0 4 0 0 0 5
PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome type 4C 0 1 3 1 0 0 5
Paragangliomas 2 0 0 3 2 0 0 5
Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 0 0 4 1 0 0 5
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2 3 1 1 0 0 0 5
Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B 0 0 5 0 0 0 5
Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 0 0 4 1 0 0 5
Persistent Mullerian duct syndrome 1 0 3 1 0 0 5
Phytanic acid storage disease 1 1 1 2 0 0 5
Polyendocrine-polyneuropathy syndrome; Hearing loss, autosomal dominant 71; Developmental and epileptic encephalopathy, 81 0 0 2 2 1 0 5
Pontocerebellar hypoplasia type 2B 0 0 4 0 1 0 5
Prader-Willi syndrome; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Developmental delay with autism spectrum disorder and gait instability 0 0 3 2 0 0 5
Primary ciliary dyskinesia 27 0 0 2 3 0 0 5
Primary ciliary dyskinesia 30 0 0 5 0 0 0 5
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 1 0 4 0 0 0 5
Pseudohypoparathyroidism type 1B 0 0 1 4 0 0 5
Radial aplasia-thrombocytopenia syndrome 2 0 0 3 0 0 5
Retinitis pigmentosa 30 0 0 2 2 1 0 5
Retinitis pigmentosa 38 0 1 2 2 0 0 5
Retinitis pigmentosa 59; Developmental delay and seizures with or without movement abnormalities 1 1 3 0 0 0 5
Retinitis pigmentosa 69 1 0 1 3 0 0 5
Rhizomelic chondrodysplasia punctata type 2 0 0 3 1 1 0 5
Severe combined immunodeficiency due to CARMIL2 deficiency 0 0 1 4 0 0 5
Short-rib thoracic dysplasia 6 with or without polydactyly; Amyotrophic lateral sclerosis, susceptibility to, 24 1 1 2 1 0 0 5
Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 0 0 5 0 0 5
Stuttering, familial persistent, 1; Hereditary spastic paraplegia 51 0 0 4 1 0 0 5
Temtamy preaxial brachydactyly syndrome 0 0 3 2 0 0 5
Treacher Collins syndrome 3; Hypomyelinating leukodystrophy 11 1 2 2 0 0 0 5
Trichohepatoenteric syndrome 2 1 0 0 4 0 0 5
Trimethylaminuria 1 0 3 1 0 0 5
Vesicoureteral reflux 3 0 0 0 4 1 0 5
Visceral myopathy 1 3 0 2 0 0 0 5
X-linked reticulate pigmentary disorder; X-linked intellectual disability, van Esch type 0 0 1 4 0 0 5
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 1 0 0 3 1 0 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 3 1 0 0 0 0 4
3MC syndrome 1 0 0 2 2 0 0 4
4p partial monosomy syndrome 0 0 0 3 1 0 4
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 0 0 2 1 1 0 4
Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 1 0 3 0 0 0 4
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type 3 0 1 0 0 0 4
Acrodermatitis continua suppurativa of Hallopeau 0 0 3 1 0 0 4
Acrokeratosis verruciformis of Hopf; Keratosis follicularis 0 0 0 3 1 0 4
Alpha-N-acetylgalactosaminidase deficiency type 2; Alpha-N-acetylgalactosaminidase deficiency type 1 0 3 1 0 0 0 4
Alveolar rhabdomyosarcoma; Waardenburg syndrome type 1; Craniofacial-deafness-hand syndrome; Waardenburg syndrome type 3 1 0 3 0 0 0 4
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 0 0 1 2 1 0 4
Aortic valve disease 2; Craniosynostosis 7 0 0 1 3 0 0 4
Arrhinia with choanal atresia and microphthalmia syndrome; Facioscapulohumeral muscular dystrophy 2 0 0 2 2 0 0 4
Autosomal dominant Robinow syndrome 1; Autosomal dominant Robinow syndrome 2 0 0 2 2 0 0 4
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 0 4 0 0 4
Autosomal dominant nonsyndromic hearing loss 4B; Hearing loss, autosomal recessive 113 0 0 2 2 0 0 4
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development 0 0 3 1 0 0 4
Autosomal recessive cutis laxa type 2B; PYCR1-related de Barsy syndrome 0 0 3 1 0 0 4
Autosomal recessive nonsyndromic hearing loss 102 0 0 2 2 0 0 4
Autosomal recessive nonsyndromic hearing loss 15 0 0 1 3 0 0 4
Autosomal recessive nonsyndromic hearing loss 22 0 0 4 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 61 0 0 2 0 2 0 4
Autosomal recessive nonsyndromic hearing loss 67 0 0 4 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 84A; Hearing loss, autosomal dominant 73 0 0 1 1 2 0 4
Autosomal recessive nonsyndromic hearing loss 98; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 0 0 3 1 0 0 4
Beaded hair 0 0 0 3 1 0 4
Beck-Fahrner syndrome 0 0 2 2 0 0 4
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 0 0 2 0 2 0 4
Bile acid malabsorption, primary, 1 0 0 4 0 0 0 4
Body mass index quantitative trait locus 12; Obesity due to prohormone convertase I deficiency 0 0 3 1 0 0 4
Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3 0 0 1 2 1 0 4
COG8-congenital disorder of glycosylation 0 0 2 2 0 0 4
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2 4 0 0 0 0 0 4
Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 0 4 0 0 4
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E 2 1 1 0 0 0 4
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 1 1 1 1 0 0 4
Chondrodysplasia punctata 2 X-linked dominant; MEND syndrome 0 0 2 2 0 0 4
Chondrosarcoma; Exostoses, multiple, type 1 2 0 1 1 0 0 4
Ciliary dyskinesia, primary, 39 0 0 0 3 1 0 4
Coffin-Siris syndrome 6 0 0 0 3 1 0 4
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 2 1 0 4
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 0 1 3 0 0 0 4
Combined deficiency of sialidase AND beta galactosidase 0 0 1 3 0 0 4
Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 0 0 2 2 0 0 4
Combined immunodeficiency due to ZAP70 deficiency; Autoimmune disease, multisystem, infantile-onset, 2 0 0 2 1 1 0 4
Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2 0 0 2 2 0 0 4
Cone dystrophy with supernormal rod response 0 0 3 1 0 0 4
Cone-rod dystrophy and hearing loss 1 0 0 2 1 1 0 4
Cornelia de Lange syndrome 3 0 0 1 3 0 0 4
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 0 0 3 1 0 0 4
Deafness-infertility syndrome; Autosomal recessive nonsyndromic hearing loss 16; Spermatogenic failure 7 1 1 1 1 0 0 4
Deficiency of malonyl-CoA decarboxylase 0 1 2 1 0 0 4
Desmosterolosis 0 1 2 1 0 0 4
Developmental and epileptic encephalopathy, 67 0 0 0 4 0 0 4
Dihydropteridine reductase deficiency 0 0 2 1 1 0 4
Distichiasis-lymphedema syndrome 0 0 2 2 0 0 4
Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 0 2 1 0 0 4
Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 0 0 2 2 0 0 4
Dyslexia, susceptibility to, 1; Primary ciliary dyskinesia 25 1 1 2 0 0 0 4
Dystonia 28, childhood-onset 0 0 0 4 0 0 4
Ehlers-Danlos syndrome, spondylocheirodysplastic type 0 0 2 2 0 0 4
Ehlers-Danlos syndrome, type 4 2 0 2 0 0 0 4
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 0 0 1 3 0 0 4
Endometrial carcinoma; Familial adenomatous polyposis 4 0 0 2 2 0 0 4
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 2 2 0 0 4
Epilepsy, idiopathic generalized, susceptibility to, 9; Episodic ataxia type 5 0 0 3 1 0 0 4
Erythrocyte AMP deaminase deficiency 0 0 1 3 0 0 4
Familial visceral amyloidosis, Ostertag type 0 0 3 1 0 0 4
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 1 2 1 0 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 0 0 1 3 0 0 4
Fucosidosis 0 0 3 1 0 0 4
GM3 synthase deficiency 1 0 2 0 1 0 4
Gastrointestinal defects and immunodeficiency syndrome 1 0 1 3 0 0 0 4
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis 0 0 1 3 0 0 4
Generalized juvenile polyposis/juvenile polyposis coli; Polyposis syndrome, hereditary mixed, 2 0 0 4 0 0 0 4
Glaucoma 1, open angle, A 0 0 0 4 0 0 4
Glucocorticoid deficiency 1 1 0 1 2 0 0 4
Glucocorticoid resistance 0 0 1 3 0 0 4
Glycogen storage disease IXb 1 0 2 1 0 0 4
Glycogen storage disease, type VII 1 1 2 0 0 0 4
Griscelli syndrome type 2 2 0 2 0 0 0 4
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 0 1 2 1 0 4
Hemochromatosis type 4 0 3 0 1 0 0 4
Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 2 1 1 0 0 4
Hereditary pancreatitis 1 0 3 0 0 0 4
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 0 0 4 0 0 4
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 0 0 2 2 0 0 4
Hereditary spastic paraplegia 10; Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25 0 0 2 2 0 0 4
Hermansky-Pudlak syndrome 4 0 0 4 0 0 0 4
High myopia-sensorineural deafness syndrome 0 1 2 1 0 0 4
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0 0 1 1 2 0 4
Hypertriglyceridemia 2 0 0 0 1 3 0 4
Hypertrophic cardiomyopathy 17 0 0 4 0 0 0 4
Hypogonadotropic hypogonadism 11 with or without anosmia 0 0 2 2 0 0 4
Idiopathic hypereosinophilic syndrome; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 0 4 0 0 0 4
Immunodeficiency 64 0 0 0 4 0 0 4
Immunodeficiency due to ficolin3 deficiency 0 0 2 2 0 0 4
Immunoskeletal dysplasia with neurodevelopmental abnormalities 0 0 2 2 0 0 4
Inflammatory bowel disease 28 0 0 2 2 0 0 4
Intellectual disability, X-linked 102 0 1 0 3 0 0 4
Intellectual disability, X-linked 49 0 0 1 3 0 0 4
Intellectual disability, X-linked 93 0 0 0 4 0 0 4
Intellectual disability, autosomal dominant 24; Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 3 1 0 0 4
Intellectual disability, autosomal dominant 3 0 0 1 3 0 0 4
Intellectual disability, autosomal dominant 54 0 0 0 4 0 0 4
Intellectual disability, autosomal recessive 1 0 0 3 1 0 0 4
Intellectual disability, autosomal recessive 12; Developmental and epileptic encephalopathy, 15 0 0 4 0 0 0 4
Intellectual disability, autosomal recessive 46 0 0 3 1 0 0 4
Intellectual disability, autosomal recessive 5 0 1 1 2 0 0 4
Iodotyrosine deiodination defect 0 3 0 0 1 0 4
Isolated congenital digital clubbing; Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 0 0 2 1 1 0 4
Joubert syndrome 13 0 0 2 2 0 0 4
Joubert syndrome 15 0 0 4 0 0 0 4
Joubert syndrome 20; Meckel syndrome, type 11 0 0 4 0 0 0 4
Juvenile retinoschisis 4 0 0 0 0 0 4
Left ventricular noncompaction 1 0 0 3 0 1 0 4
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 0 0 1 3 0 4
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 2 0 1 0 0 4
Leydig cell agenesis; Gonadotropin-independent familial sexual precocity 1 1 1 0 1 0 4
Lissencephaly due to TUBA1A mutation 1 2 1 0 0 0 4
MGAT2-congenital disorder of glycosylation 0 0 4 0 0 0 4
MHC class II deficiency 0 0 2 2 0 0 4
MORM syndrome; Joubert syndrome 1 0 0 2 2 0 0 4
Meckel syndrome, type 8; Joubert syndrome 24 0 1 3 0 0 0 4
Methylmalonic aciduria, cblB type 1 1 2 0 0 0 4
Mirror movements 1; Malignant tumor of esophagus; Colorectal cancer; Gaze palsy, familial horizontal, with progressive scoliosis, 2 0 0 0 3 1 0 4
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Charcot-Marie-Tooth disease, axonal, type 2EE 1 1 1 1 0 0 4
Mitochondrial DNA depletion syndrome, myopathic form; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 3 0 0 1 0 0 4
Mitochondrial complex 1 deficiency, nuclear type 17; Fanconi renotubular syndrome 5 0 0 0 3 1 0 4
Mitochondrial complex 1 deficiency, nuclear type 9 0 1 3 0 0 0 4
Mitochondrial complex 4 deficiency, nuclear type 10 0 0 2 2 0 0 4
Mitochondrial complex 4 deficiency, nuclear type 15 0 0 0 3 1 0 4
Mitochondrial complex III deficiency nuclear type 7 0 0 1 2 1 0 4
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2 0 1 1 0 0 4
Mosaic variegated aneuploidy syndrome 2 0 0 4 0 0 0 4
Mucopolysaccharidosis, MPS-II 0 0 0 4 0 0 4
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2 2 0 0 0 2 0 4
Myofibrillar myopathy 3 1 0 2 1 0 0 4
Myopathy, centronuclear, 2 0 0 3 1 0 0 4
Myopathy, centronuclear, 5 0 1 2 1 0 0 4
NDE1-related microhydranencephaly; Lissencephaly 4 0 0 4 0 0 0 4
Nance-Horan syndrome; Cataract 40 0 0 2 1 1 0 4
Nephronophthisis 20 0 0 1 2 1 0 4
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 1 1 2 0 4
Neuropathy, hereditary sensory and autonomic, type 1C 0 0 0 2 2 0 4
Noonan syndrome 1; Cardiofaciocutaneous syndrome 3 1 1 2 0 0 0 4
Obesity due to leptin receptor gene deficiency 0 0 1 1 2 0 4
Oculomaxillofacial dysostosis; Teebi hypertelorism syndrome 1 0 0 0 4 0 0 4
Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 1 2 0 0 4
Orofacial-digital syndrome IV; Joubert syndrome 18 0 2 1 1 0 0 4
PHGDH deficiency; Neu-Laxova syndrome 1 1 1 2 0 0 0 4
Pachyonychia congenita 2; Steatocystoma multiplex 1 2 0 1 0 0 4
Pachyonychia congenita 4 2 1 0 1 0 0 4
Palmoplantar keratoderma i, striate, focal, or diffuse; Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 0 1 3 0 0 4
Pancytopenia-developmental delay syndrome 1 0 1 2 0 0 4
Parkinson disease 13, autosomal dominant, susceptibility to; 3-methylglutaconic aciduria type 8 0 0 1 2 1 0 4
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 1 3 0 0 4
Parkinson disease 5, autosomal dominant, susceptibility to; Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 0 1 3 0 0 4
Pelger-Huët anomaly; Greenberg dysplasia; Reynolds syndrome; Regressive spondylometaphyseal dysplasia 0 0 2 2 0 0 4
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome; Pancreatic agenesis 2 0 0 3 1 0 0 4
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5 0 1 2 0 1 0 4
Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B 2 0 2 0 0 0 4
Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B 0 0 3 1 0 0 4
Phelan-McDermid syndrome; Schizophrenia 15 1 1 1 1 0 0 4
Poikiloderma with neutropenia 0 1 1 2 0 0 4
Pontocerebellar hypoplasia type 2E 1 2 1 0 0 0 4
Primary ciliary dyskinesia 17 1 0 3 0 0 0 4
Primary ciliary dyskinesia 22 0 0 3 1 0 0 4
Primary ciliary dyskinesia 24 1 2 1 0 0 0 4
Primary ciliary dyskinesia 33 0 0 3 1 0 0 4
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3 1 0 1 1 1 0 4
Prolidase deficiency 2 0 1 1 0 0 4
Purine-nucleoside phosphorylase deficiency 3 0 0 0 1 0 4
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 0 4 0 0 4
Retinitis pigmentosa 11 0 2 0 1 1 0 4
Retinitis pigmentosa 2 0 0 2 2 0 0 4
Retinitis pigmentosa 31 0 0 0 4 0 0 4
Retinitis pigmentosa 47; Oguchi disease-1 1 0 3 0 0 0 4
Retinitis pigmentosa 68 0 0 1 3 0 0 4
Retinitis pigmentosa; Retinitis pigmentosa 66 0 0 1 3 0 0 4
Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 0 0 2 2 0 0 4
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2 0 2 0 0 0 4
Schuurs-Hoeijmakers syndrome 1 0 1 2 0 0 4
Schwannomatosis 2; Noonan syndrome 10 2 1 1 0 0 0 4
Severe combined immunodeficiency due to CORO1A deficiency 0 0 3 1 0 0 4
Shukla-Vernon syndrome 0 0 2 2 0 0 4
Shwachman-Diamond syndrome 1; Aplastic anemia 4 0 0 0 0 0 4
Shwachman-Diamond syndrome 1; Bone marrow failure syndrome 3 0 0 3 1 0 0 4
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8 0 0 4 0 0 0 4
Singleton-Merten syndrome 2 0 0 1 1 2 0 4
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis 0 0 0 4 0 0 4
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 0 3 0 0 4
Spondyloepiphyseal dysplasia, Kimberley type; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 0 1 2 1 0 4
Sulfite oxidase deficiency 0 1 2 1 0 0 4
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 0 1 3 0 0 0 4
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 3 0 0 4
Thrombocytopenia 2 1 0 1 2 0 0 4
Treacher Collins syndrome 1 0 0 1 2 1 0 4
Urinary bladder, atony of; Smoking as a quantitative trait locus 3 0 1 0 3 0 0 4
Urocanate hydratase deficiency 0 0 1 3 0 0 4
Ventricular fibrillation, paroxysmal familial, 2; Intellectual disability, autosomal dominant 33 0 0 2 0 2 0 4
WHIM syndrome 1 2 1 1 0 0 0 4
Wagner syndrome 0 0 2 2 0 0 4
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 1 0 1 2 0 0 4
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 1 0 3 0 0 0 4
3-methylglutaconic aciduria type 9 0 0 1 2 0 0 3
ABCD syndrome; Hirschsprung disease, susceptibility to, 2; Waardenburg syndrome type 4A 0 0 2 0 1 0 3
ACTH-independent macronodular adrenal hyperplasia 2 0 0 1 2 0 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 0 3 0 0 3
ALG12-congenital disorder of glycosylation 0 0 3 0 0 0 3
Acne inversa, familial, 1 0 0 0 3 0 0 3
Acute intermittent porphyria 0 0 3 0 0 0 3
Acyl-CoA oxidase deficiency; Mitchell syndrome 0 0 3 0 0 0 3
Agammaglobulinemia 2, autosomal recessive 0 0 2 1 0 0 3
Agammaglobulinemia 5, autosomal dominant 0 0 0 3 0 0 3
Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 0 3 0 0 0 3
Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 0 0 3 0 0 0 3
Allan-Herndon-Dudley syndrome 1 1 0 1 0 0 3
Amyotrophic lateral sclerosis type 1 2 0 0 0 1 0 3
Angelman syndrome 0 0 3 0 0 0 3
Aortic aneurysm, familial thoracic 10 1 0 2 0 0 0 3
Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4; Myopathy, congenital, with tremor 0 0 1 2 0 0 3
Ataxia-hypogonadism-choroidal dystrophy syndrome; Laurence-Moon syndrome; Hereditary spastic paraplegia 39; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 1 0 1 1 0 0 3
Ateleiotic dwarfism; Autosomal dominant isolated somatotropin deficiency; Short stature due to growth hormone qualitative anomaly; Isolated growth hormone deficiency type IB 1 0 0 2 0 0 3
Atransferrinemia 0 0 1 0 2 0 3
Autoinflammatory syndrome, familial, Behcet-like 1 0 0 3 0 0 0 3
Autosomal dominant aplasia and myelodysplasia 0 0 2 1 0 0 3
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 0 0 1 2 0 0 3
Autosomal dominant nonsyndromic hearing loss 21; Autosomal recessive nonsyndromic hearing loss 104 0 0 2 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 28; Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome; Corneal dystrophy, posterior polymorphous, 4 0 0 2 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 2A 0 0 3 0 0 0 3
Autosomal dominant nonsyndromic hearing loss 56 0 0 0 2 1 0 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia; Atrioventricular septal defect and common atrioventricular junction; Craniometaphyseal dysplasia, autosomal recessive; Hypoplastic left heart syndrome 1; Oculodentodigital dysplasia, autosomal recessive; Syndactyly type 3; Oculodentodigital dysplasia; Erythrokeratodermia variabilis et progressiva 3 1 0 2 0 0 0 3
Autosomal recessive distal renal tubular acidosis 1 2 0 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 0 0 1 1 1 0 3
Autosomal recessive nonsyndromic hearing loss 24 0 0 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 79 0 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 0 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 93 0 0 2 1 0 0 3
Autosomal recessive spinocerebellar ataxia 10 1 0 2 0 0 0 3
Bartter disease type 4B 0 0 1 1 1 0 3
Blepharophimosis, ptosis, and epicanthus inversus syndrome; Premature ovarian failure 3 2 0 1 0 0 0 3
Bradyopsia 0 0 3 0 0 0 3
Brittle cornea syndrome 2 0 0 2 1 0 0 3
CEDNIK syndrome 0 0 0 3 0 0 3
COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1 0 0 2 0 0 3
Carney complex - trismus - pseudocamptodactyly syndrome; Hecht syndrome 0 0 0 3 0 0 3
Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 1 1 0 2 0 0 0 3
Cataract 18 0 0 1 2 0 0 3
Cataract 21 multiple types; Ayme-Gripp syndrome 0 0 0 3 0 0 3
Cerebellar atrophy with seizures and variable developmental delay 0 0 3 0 0 0 3
Ceroid lipofuscinosis, neuronal, 6A; Adult neuronal ceroid lipofuscinosis 0 0 3 0 0 0 3
Charcot-Marie-Tooth disease axonal type 2L; Neuronopathy, distal hereditary motor, type 2A 0 0 1 1 1 0 3
Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G 0 0 3 0 0 0 3
Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1 0 0 1 2 0 0 3
Charcot-Marie-Tooth disease type 2B2; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 0 1 2 0 0 3
Charcot-Marie-Tooth disease type 4D 0 0 3 0 0 0 3
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies 0 0 1 1 1 0 3
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 1 1 1 0 0 3
Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant 0 0 0 2 1 0 3
Cole-Carpenter syndrome 2 0 0 0 2 1 0 3
Combined immunodeficiency due to CD3gamma deficiency 0 0 0 0 3 0 3
Combined immunodeficiency due to MALT1 deficiency 0 0 2 1 0 0 3
Combined oxidative phosphorylation defect type 14; Hereditary spastic paraplegia 77 0 0 2 1 0 0 3
Combined oxidative phosphorylation defect type 15; Mitochondrial complex 1 deficiency, nuclear type 27 1 1 1 0 0 0 3
Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure 0 0 0 3 0 0 3
Complex cortical dysplasia with other brain malformations 5 0 0 1 1 1 0 3
Complex cortical dysplasia with other brain malformations 7 0 0 0 2 1 0 3
Cone dystrophy 4 0 1 2 0 0 0 3
Cone-rod dystrophy 10; Retinitis pigmentosa 35 0 0 2 0 1 0 3
Cone-rod dystrophy 15 0 0 2 1 0 0 3
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 0 2 0 3
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 1 1 1 0 3
Congenital fibrosis of extraocular muscles type 1 1 0 0 2 0 0 3
Congenital heart defects, multiple types, 2 0 1 1 1 0 0 3
Congenital myopathy with internal nuclei and atypical cores 0 0 3 0 0 0 3
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 0 3 0 0 0 3
Congenital secretory diarrhea, chloride type 0 1 2 0 0 0 3
Coronary artery disease, autosomal dominant 2; Tooth agenesis, selective, 7 1 0 0 0 2 0 3
D-2-hydroxyglutaric aciduria 1 1 0 1 1 0 0 3
D-2-hydroxyglutaric aciduria 2 0 0 0 3 0 0 3
DOCK2 deficiency 0 0 2 0 1 0 3
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1; Dentinogenesis imperfecta type 2; Denticles; Dentinogenesis imperfecta type 3 1 0 2 0 0 0 3
Deficiency of galactokinase 1 1 1 0 0 0 3
Dentatorubral-pallidoluysian atrophy; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 32 0 0 1 2 0 0 3
Developmental and epileptic encephalopathy, 66 1 0 0 2 0 0 3
Dyschromatosis universalis hereditaria 1; Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 0 0 0 2 1 0 3
Dyskeratosis congenita, X-linked 0 0 1 1 1 0 3
Dyskeratosis congenita, autosomal dominant 6 0 0 3 0 0 0 3
Dyskeratosis congenita, autosomal recessive 1; Dyskeratosis congenita, autosomal recessive 2 0 0 1 2 0 0 3
EEM syndrome; Congenital hypotrichosis with juvenile macular dystrophy 0 0 3 0 0 0 3
Early-onset generalized limb-onset dystonia; Arthrogryposis multiplex congenita 5 1 0 1 0 1 0 3
Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive 1 1 0 1 0 0 3
Ehlers-Danlos syndrome, musculocontractural type 2 0 0 0 2 1 0 3
Elliptocytosis 3; Hereditary spherocytosis type 2 0 0 1 2 0 0 3
Epidermodysplasia verruciformis, susceptibility to, 1 0 0 1 2 0 0 3
Epidermolysis bullosa simplex due to plakophilin deficiency 0 0 1 2 0 0 3
Epidermolytic palmoplantar keratoderma 1 0 1 1 0 0 3
Epileptic encephalopathy, infantile or early childhood, 2 0 0 2 0 1 0 3
Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate 0 0 1 2 0 0 3
Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation 0 0 2 1 0 0 3
Exudative vitreoretinopathy 6; Retinitis pigmentosa 72 0 1 2 0 0 0 3
FRAXE 0 0 1 2 0 0 3
Familial apolipoprotein C-II deficiency 1 0 0 2 0 0 3
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 1 0 2 0 0 0 3
Familial dysautonomia 2 1 0 0 0 0 3
Familial infantile myasthenia 0 0 2 1 0 0 3
Familial pseudohyperkalemia; Langereis blood group; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3 0 1 0 2 0 0 3
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 1 1 1 0 0 3
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1 0 0 0 1 2 0 3
Frank-Ter Haar syndrome 0 0 3 0 0 0 3
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Progressive supranuclear ophthalmoplegia 2 0 1 0 0 0 3
Geleophysic dysplasia 1 0 0 2 1 0 0 3
Generalized epilepsy with febrile seizures plus, type 9 0 0 1 2 0 0 3
Glaucoma 1, open angle, G 0 0 1 2 0 0 3
Glycogen storage disease IXc 0 0 3 0 0 0 3
Goldberg-Shprintzen syndrome 1 0 1 1 0 0 3
Granulocytopenia with immunoglobulin abnormality 0 0 1 2 0 0 3
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 1 0 2 0 0 0 3
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0 0 0 3 0 0 3
Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 0 0 3 0 0 0 3
Hemochromatosis type 2A 1 1 1 0 0 0 3
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 3 0 0 0 3
Hereditary coproporphyria; Harderoporphyria 0 1 2 0 0 0 3
Hereditary insensitivity to pain with anhidrosis; Familial medullary thyroid carcinoma 0 0 3 0 0 0 3
Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 0 0 2 1 0 3
Hereditary pancreatitis; Tropical pancreatitis 1 0 1 0 1 0 3
Hereditary spastic paraplegia 47 1 0 2 0 0 0 3
Hereditary spastic paraplegia 48 0 0 2 1 0 0 3
Hereditary spastic paraplegia 5A; Congenital bile acid synthesis defect 3 1 1 1 0 0 0 3
Hermansky-Pudlak syndrome 7 0 0 0 3 0 0 3
Herpes simplex encephalitis, susceptibility to, 4 0 0 2 1 0 0 3
Holoprosencephaly 11 0 0 1 2 0 0 3
Holoprosencephaly 2; Schizencephaly 0 0 2 0 1 0 3
Holoprosencephaly 3; Microphthalmia, isolated, with coloboma 5; Solitary median maxillary central incisor syndrome; Schizencephaly 0 0 1 2 0 0 3
Huntington disease; Lopes-Maciel-Rodan syndrome 0 0 0 3 0 0 3
Hydrolethalus syndrome 1 1 0 2 0 0 0 3
Hyperammonemia, type III 0 2 0 1 0 0 3
Hypercholanemia, familial, 2 0 0 2 1 0 0 3
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 0 1 1 0 1 0 3
Hypogonadotropic hypogonadism 7 with or without anosmia; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 1 0 0 0 3
Hypomyelinating leukodystrophy 10 0 2 0 1 0 0 3
Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy 0 0 3 0 0 0 3
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 1 1 0 1 0 3
Hypospadias 2, X-linked 0 0 0 2 1 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 1 0 1 0 3
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome 0 0 0 3 0 0 3
Idiopathic basal ganglia calcification 1 0 0 1 2 0 0 3
Immunodeficiency 23 0 0 2 1 0 0 3
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 0 0 3 0 0 0 3
Immunodeficiency 51 0 0 2 1 0 0 3
Immunodeficiency 57; Autoinflammation with episodic fever and lymphadenopathy 0 0 2 1 0 0 3
Immunodeficiency, common variable, 12 0 0 1 2 0 0 3
Immunodeficiency, common variable, 6 0 0 0 3 0 0 3
Infantile onset spinocerebellar ataxia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Perrault syndrome 5 0 1 2 0 0 0 3
Infantile-onset X-linked spinal muscular atrophy; VEXAS syndrome 0 0 2 1 0 0 3
Inflammatory skin and bowel disease, neonatal, 1 0 0 0 3 0 0 3
Inherited prekallikrein deficiency 0 0 0 2 1 0 3
Intellectual disability, X-linked 104 0 1 0 2 0 0 3
Intellectual disability, X-linked 63 0 0 2 1 0 0 3
Intellectual disability, anterior maxillary protrusion, and strabismus 0 0 2 1 0 0 3
Intellectual disability, autosomal dominant 39 0 0 1 2 0 0 3
Intellectual disability, autosomal recessive 42 0 0 1 1 1 0 3
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 0 0 2 1 0 0 3
Larsen-like syndrome, B3GAT3 type 0 0 2 1 0 0 3
Leber congenital amaurosis 3 0 1 2 0 0 0 3
Lethal arthrogryposis-anterior horn cell disease syndrome; Lethal congenital contracture syndrome 1 0 0 2 1 0 0 3
Leukocyte adhesion deficiency 3 0 0 0 3 0 0 3
Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 0 0 1 2 0 0 3
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 1 0 0 2 0 0 3
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 2 0 0 3
Maturity-onset diabetes of the young type 14 0 0 0 2 1 0 3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 1 1 0 0 3
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 0 1 2 0 0 0 3
Meier-Gorlin syndrome 1 0 0 0 3 0 0 3
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 3 0 0 0 3
Melorheostosis; Noonan syndrome 1; Cardiofaciocutaneous syndrome 3 0 0 0 3 0 0 3
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 1 0 1 1 0 0 3
Metaphyseal anadysplasia 2 0 0 3 0 0 0 3
Microcephaly 4, primary, autosomal recessive 0 0 2 1 0 0 3
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 0 1 2 0 0 3
Microcephaly, growth restriction, and increased sister chromatid exchange 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 0 0 0 2 1 0 3
Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer 0 0 1 2 0 0 3
Mitochondrial DNA depletion syndrome 9 0 0 2 0 1 0 3
Mitochondrial complex 1 deficiency, nuclear type 4 1 0 2 0 0 0 3
Mitochondrial trifunctional protein deficiency 1 1 1 0 0 0 3
Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked 0 0 0 3 0 0 3
Multicentric osteolysis nodulosis arthropathy spectrum 0 0 2 1 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 2 0 1 0 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 0 0 1 2 0 0 3
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 0 0 3 0 0 0 3
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 0 1 2 0 0 3
Nemaline myopathy 6 0 0 1 2 0 0 3
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 1 1 0 0 3
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 0 0 3 0 0 3
Nephrotic syndrome, type 9 0 0 1 2 0 0 3
Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 0 3 0 0 0 3
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 0 3 0 0 3
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 0 3 0 0 3
Neuronal ceroid lipofuscinosis 13 0 0 0 3 0 0 3
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 0 1 1 1 0 0 3
Neuronopathy, distal hereditary motor, type 7A; Congenital myasthenic syndrome 20 0 0 3 0 0 0 3
Neutral lipid storage myopathy 0 0 3 0 0 0 3
Ocular albinism, type II; X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A 1 0 0 2 0 0 3
Orofaciodigital syndrome XV; Joubert syndrome 38; Short-rib thoracic dysplasia 21 without polydactyly 0 0 0 3 0 0 3
Osteogenesis imperfecta type 12 0 0 2 1 0 0 3
Osteogenesis imperfecta type 13 0 0 3 0 0 0 3
Osteogenesis imperfecta type 7 0 0 2 1 0 0 3
Osteopathia striata with cranial sclerosis 0 0 0 3 0 0 3
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 1 0 2 0 0 3
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13 0 1 2 0 0 0 3
Peroxisome biogenesis disorder 14B 0 0 3 0 0 0 3
Perrault syndrome 4; Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 0 3 0 0 0 3
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 0 0 1 2 0 0 3
Pituitary dependent hypercortisolism; Somatotroph adenoma 0 0 2 1 0 0 3
Polyglucosan body myopathy type 1 1 0 2 0 0 0 3
Posterior column ataxia-retinitis pigmentosa syndrome 0 0 2 1 0 0 3
Primary ciliary dyskinesia 0 0 3 0 0 0 3
Primary ciliary dyskinesia 19 1 0 2 0 0 0 3
Primary ciliary dyskinesia 6 0 0 3 0 0 0 3
Progressive myoclonic epilepsy type 6 1 0 1 1 0 0 3
Protein-losing enteropathy; Cromer blood group system 0 1 1 1 0 0 3
Prune belly syndrome 0 0 0 3 0 0 3
RAB23-related Carpenter syndrome 1 0 2 0 0 0 3
RFT1-congenital disorder of glycosylation 0 0 3 0 0 0 3
Renal hypodysplasia/aplasia 1 0 0 0 3 0 0 3
Reticular dysgenesis 0 0 2 1 0 0 3
Retinal cone dystrophy 4 0 0 0 3 0 0 3
Retinitis pigmentosa 10; Leber congenital amaurosis 11 0 0 3 0 0 0 3
Retinitis pigmentosa 56; Vitelliform macular dystrophy 5 0 0 2 0 1 0 3
Rett syndrome, congenital variant 2 0 1 0 0 0 3
Ritscher-Schinzel syndrome 2 0 0 2 1 0 0 3
Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome 2 0 0 1 0 0 3
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 0 0 3 0 0 0 3
SRD5A3-congenital disorder of glycosylation; Kahrizi syndrome 0 0 3 0 0 0 3
STING-associated vasculopathy with onset in infancy 1 0 0 2 0 0 3
Seckel syndrome 7 0 0 0 3 0 0 3
Selective pituitary resistance to thyroid hormone; Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone resistance, generalized, autosomal recessive 2 0 0 1 0 0 3
Short-rib thoracic dysplasia 11 with or without polydactyly 0 1 1 1 0 0 3
Sialidosis type 2 0 1 1 1 0 0 3
Spastic ataxia 2 0 0 1 2 0 0 3
Spinocerebellar ataxia type 34; Stargardt disease 3; Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 1 0 1 1 0 0 3
Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 1 0 0 2 0 0 3
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 1 0 2 0 0 0 3
Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections 0 0 2 0 1 0 3
Syndromic X-linked intellectual disability Snyder type 0 0 1 2 0 0 3
T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 0 3 0 0 0 3
Testosterone 17-beta-dehydrogenase deficiency 2 1 0 0 0 0 3
Tobacco addiction, susceptibility to; Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 0 3 0 0 0 3
Type 1 diabetes mellitus 10; Immunodeficiency due to CD25 deficiency 0 0 3 0 0 0 3
Type I complement component 8 deficiency 0 0 0 2 1 0 3
Tyrosinemia type II 0 1 2 0 0 0 3
Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 0 0 2 1 0 0 3
Waardenburg syndrome type 4B; Hirschsprung disease, susceptibility to, 4 0 0 2 0 1 0 3
Warburg micro syndrome 1; Martsolf syndrome 2 1 0 2 0 0 0 3
Weaver syndrome 0 0 1 1 1 0 3
Webb-Dattani syndrome 0 0 0 3 0 0 3
X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome 0 0 0 2 1 0 3
ZTTK syndrome 0 0 1 2 0 0 3
not provided 1 0 2 0 0 0 3
2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease axonal type 2Q 0 1 0 1 0 0 2
3M syndrome 3 0 0 1 1 0 0 2
46,XY sex reversal 6 0 0 0 2 0 0 2
8q24.3 microdeletion syndrome 0 0 0 2 0 0 2
Aarskog syndrome 1 0 0 1 0 0 2
Abruzzo-Erickson syndrome; Cleft palate with or without ankyloglossia, X-linked 0 0 1 1 0 0 2
Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph adenoma 0 0 2 0 0 0 2
Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome; Short stature with nonspecific skeletal abnormalities 0 0 2 0 0 0 2
Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy 1 0 0 1 0 0 2
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome 0 0 1 0 1 0 2
Acute promyelocytic leukemia 0 0 0 2 0 0 2
Agammaglobulinemia 3, autosomal recessive 0 0 2 0 0 0 2
Agammaglobulinemia 4, autosomal recessive 0 0 1 1 0 0 2
Alzheimer disease 9 0 0 0 2 0 0 2
Alzheimer disease; Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Hemochromatosis type 1; Transferrin serum level quantitative trait locus 2; Familial porphyria cutanea tarda 1 0 1 0 0 0 2
Amelocerebrohypohidrotic syndrome 0 1 0 1 0 0 2
Amelogenesis imperfecta, hypocalcification type 2 0 0 0 0 0 2
Amish lethal microcephaly; Progressive demyelinating neuropathy with bilateral striatal necrosis 0 0 2 0 0 0 2
Amyotrophic lateral sclerosis type 19 0 0 0 0 2 0 2
Amyotrophic neuralgia 1 0 1 0 0 0 2
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant 0 0 1 1 0 0 2
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Congenital ocular coloboma 2 0 0 0 0 0 2
Aromatase excess syndrome; Aromatase deficiency 0 1 1 0 0 0 2
Arrhythmogenic right ventricular dysplasia, familial, 14; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 0 0 2 0 0 2
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion 0 0 0 2 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 1 0 0 1 0 1 0 2
Asperger syndrome, X-linked, susceptibility to, 2; Autism, susceptibility to, X-linked 2 0 0 1 1 0 0 2
Asphyxiating thoracic dystrophy 2 0 0 2 0 0 0 2
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 0 0 2 0 0 2
Atrial conduction disease 0 1 0 1 0 0 2
Atrioventricular septal defect, susceptibility to, 2 0 0 1 1 0 0 2
Auriculocondylar syndrome 2 0 0 0 2 0 0 2
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 1 0 1 0 0 0 2
Autism, susceptibility to, 17 0 0 1 1 0 0 2
Autoimmune lymphoproliferative syndrome type 1 0 1 1 0 0 0 2
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 0 0 2 0 0 0 2
Autoinflammation, immune dysregulation, and eosinophilia 0 0 2 0 0 0 2
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Schizencephaly; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity 0 0 2 0 0 0 2
Autosomal dominant limb-girdle muscular dystrophy type 1G 0 0 2 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 15 0 0 2 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 44 0 0 1 0 1 0 2
Autosomal dominant nonsyndromic hearing loss 5 0 0 2 0 0 0 2
Autosomal recessive Alport syndrome 1 1 0 0 0 0 2
Autosomal recessive congenital ichthyosis 5 1 1 0 0 0 0 2
Autosomal recessive inherited pseudoxanthoma elasticum; Desbuquois dysplasia 2 0 0 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type R18 0 1 0 1 0 0 2
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 0 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 29 0 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 59 0 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 88; Hearing loss, autosomal dominant 81 0 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 91 0 0 2 0 0 0 2
Autosomal recessive spinocerebellar ataxia 17 0 0 1 0 1 0 2
B4GALT1-congenital disorder of glycosylation 0 0 0 2 0 0 2
BDV syndrome 0 0 0 2 0 0 2
BLOOD GROUP--LUTHERAN INHIBITOR; Congenital dyserythropoietic anemia type 4; Fetal hemoglobin quantitative trait locus 6 1 0 0 1 0 0 2
Basal ganglia calcification, idiopathic, 6 0 0 0 1 1 0 2
Bile acid conjugation defect 1 0 0 2 0 0 0 2
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 0 1 1 0 0 0 2
Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal dystrophy 0 0 2 0 0 0 2
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 1 1 0 0 2
CHIME syndrome 1 0 1 0 0 0 2
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 2 0 0 0 0 0 2
Calvarial doughnut lesions-bone fragility syndrome 1 0 0 1 0 0 2
Candidiasis, familial, 9 0 0 1 1 0 0 2
Cardiac valvular defect, developmental 0 1 1 0 0 0 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 0 2 0 0 0 2
Cataract 44; Hypotrichosis 14; Alopecia-intellectual disability syndrome 4 0 0 0 1 1 0 2
Cataract 6 multiple types 0 0 0 2 0 0 2
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 0 0 1 1 0 2
Caudal duplication; Hepatocellular carcinoma 0 0 0 2 0 0 2
Centra precocious puberty 1; Hypogonadotropic hypogonadism 8 with or without anosmia 0 0 0 2 0 0 2
Cerebral cavernous malformation 2 1 0 0 1 0 0 2
Cerebral folate transport deficiency 0 0 2 0 0 0 2
Cerebroretinal microangiopathy with calcifications and cysts 2 0 0 1 1 0 0 2
Charcot-Marie-Tooth disease axonal type 2F; Neuronopathy, distal hereditary motor, type 2B 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2P 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2T; Spinocerebellar ataxia 43 0 0 0 2 0 0 2
Charcot-Marie-Tooth disease recessive intermediate B; Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Deafness, congenital, and adult-onset progressive leukoencephalopathy 0 0 1 1 0 0 2
Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 2 0 0 0 0 0 2
Charcot-Marie-Tooth disease type 2D; Neuronopathy, distal hereditary motor, type 5A 0 0 2 0 0 0 2
Christianson syndrome 0 0 0 1 1 0 2
Ciliary dyskinesia, primary, 46 0 0 0 1 1 0 2
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 0 0 1 1 0 0 2
Coffin-Siris syndrome 8 0 0 2 0 0 0 2
Combined immunodeficiency due to OX40 deficiency 0 0 1 1 0 0 2
Combined immunodeficiency, X-linked; X-linked severe combined immunodeficiency 1 0 0 1 0 0 2
Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 0 0 1 1 0 0 2
Combined oxidative phosphorylation defect type 23 0 0 1 1 0 0 2
Combined oxidative phosphorylation deficiency 55 0 0 0 2 0 0 2
Compton-North congenital myopathy 0 0 0 1 1 0 2
Cone-rod synaptic disorder syndrome, congenital nonprogressive 0 0 0 2 0 0 2
Congenital bile acid synthesis defect 1 1 0 1 0 0 0 2
Congenital central hypoventilation; Neuroblastoma, susceptibility to, 2 0 0 2 0 0 0 2
Congenital disorder of glycosylation type Ir 0 0 2 0 0 0 2
Congenital heart defects and ectodermal dysplasia 0 0 0 2 0 0 2
Congenital malabsorptive diarrhea 4 0 0 1 1 0 0 2
Congenital muscular dystrophy with intellectual disability and severe epilepsy 0 1 1 0 0 0 2
Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 12 1 0 1 0 0 0 2
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 0 1 1 0 0 2
Congenital stationary night blindness 1B 0 0 0 2 0 0 2
Congenital stationary night blindness autosomal dominant 1; Pigmentary retinal dystrophy; Retinitis pigmentosa 4 1 0 1 0 0 0 2
Congenital stationary night blindness autosomal dominant 3; Congenital stationary night blindness 1G 0 1 0 1 0 0 2
Cornelia de Lange syndrome 5 0 0 0 1 1 0 2
Cortisone reductase deficiency 1 0 0 0 2 0 0 2
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 1 0 0 1 0 0 2
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types 2 0 0 0 0 0 2
DDX41-related hematologic malignancy predisposition syndrome 0 1 1 0 0 0 2
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 0 0 1 1 0 0 2
DYRK1A-related intellectual disability syndrome 0 0 1 1 0 0 2
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 0 1 0 0 2
Deficiency of isobutyryl-CoA dehydrogenase 0 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 47 0 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 48 0 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 68 0 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 8 0 0 1 1 0 0 2
Developmental delay with or without dysmorphic facies and autism; Hearing loss, autosomal dominant 75 0 1 1 0 0 0 2
Diamond-Blackfan anemia 4 0 0 0 2 0 0 2
Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9 0 0 0 2 0 0 2
Diaphyseal dysplasia; Cystic fibrosis; Inflammatory bowel disease, immunodeficiency, and encephalopathy 0 0 1 1 0 0 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 1 0 1 0 0 0 2
Early myoclonic encephalopathy 0 0 2 0 0 0 2
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 0 0 0 2 0 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 1 1 0 0 0 2
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Hair morphology 1 0 0 0 2 0 0 2
Ectodermal dysplasia 13, hair/tooth type 0 0 0 1 1 0 2
Ehlers-Danlos syndrome, spondylodysplastic type, 1 1 0 1 0 0 0 2
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0 0 0 2 0 0 2
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 0 0 2 0 0 2
Epidermodysplasia verruciformis, susceptibility to, 2 0 0 2 0 0 0 2
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex 1A, generalized severe; Dowling-Degos disease 1; Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive 0 0 0 1 1 0 2
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 0 0 2 0 0 0 2
Erythrokeratodermia variabilis et progressiva 2 0 0 0 2 0 0 2
Exudative vitreoretinopathy 1 1 0 0 1 0 0 2
Familial cancer of breast; Estrogen resistance syndrome; Myocardial infarction, susceptibility to; Migraine with or without aura, susceptibility to, 1 0 0 0 1 1 0 2
Familial cancer of breast; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 0 0 2 0 0 2
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer 1 0 1 0 0 0 2
Familial chronic mucocutaneous candidiasis; Aspergillosis, susceptibility to 0 0 0 2 0 0 2
Familial meningioma; Coffin-Siris syndrome 5 0 0 2 0 0 0 2
Familial pulmonary capillary hemangiomatosis 0 0 0 1 1 0 2
Familial thyroid dyshormonogenesis 1 0 1 1 0 0 0 2
Familial type 5 hyperlipoproteinemia; Hypertriglyceridemia 1 0 1 0 0 1 0 2
Fanconi anemia complementation group U 0 0 2 0 0 0 2
Fanconi renotubular syndrome 3 0 0 2 0 0 0 2
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 1 0 1 0 0 0 2
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 0 0 1 1 0 0 2
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 1 0 1 0 0 2
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 0 0 1 1 0 2
Ghosal hematodiaphyseal dysplasia 0 0 0 2 0 0 2
Glomuvenous malformation 2 0 0 0 0 0 2
Griscelli syndrome type 1 0 0 1 0 1 0 2
Hearing loss, autosomal recessive 112 0 0 1 1 0 0 2
Hearing loss, autosomal recessive 99 0 0 1 1 0 0 2
Hepatic veno-occlusive disease-immunodeficiency syndrome; Mycobacterium tuberculosis, susceptibility to 0 0 0 2 0 0 2
Hepatitis B virus, susceptibility to; Inflammatory bowel disease 25 0 0 1 1 0 0 2
Hereditary angioedema type 1; C1 inhibitor deficiency 1 0 1 0 0 0 2
Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy; L-ferritin deficiency 0 2 0 0 0 0 2
Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 0 0 1 1 0 0 2
Hereditary pancreatitis; Trypsinogen deficiency 1 0 1 0 0 0 2
Hereditary spastic paraplegia 42; Huppke-Brendel syndrome 0 0 1 1 0 0 2
Hereditary spastic paraplegia 54 0 0 1 1 0 0 2
Hermansky-Pudlak syndrome 8 0 0 2 0 0 0 2
Herpes simplex encephalitis, susceptibility to, 1 0 0 1 1 0 0 2
Herpes simplex encephalitis, susceptibility to, 3 0 0 2 0 0 0 2
Houge-Janssens syndrome 2 0 1 0 1 0 0 2
Hyaline fibromatosis syndrome 0 0 0 1 1 0 2
Hydatidiform mole, recurrent, 1 0 1 0 1 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 0 1 1 0 0 2
Hyper-IgM syndrome type 5 0 0 2 0 0 0 2
Hyperekplexia 2 0 0 0 2 0 0 2
Hyperekplexia 3 0 1 0 1 0 0 2
Hypertrichotic osteochondrodysplasia Cantu type; Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy 10 1 0 1 0 0 0 2
Hypogonadotropic hypogonadism 16 with or without anosmia 0 0 0 2 0 0 2
Hypomyelinating leukodystrophy 2; Lymphatic malformation 3; Hereditary spastic paraplegia 44 0 0 1 1 0 0 2
Hypomyelinating leukodystrophy 4; Hereditary spastic paraplegia 13 0 0 1 1 0 0 2
Hypomyelinating leukodystrophy 9 0 1 0 1 0 0 2
Hypomyelination and Congenital Cataract 0 0 2 0 0 0 2
IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 0 2 0 0 0 2
Imagawa-Matsumoto syndrome 0 0 0 2 0 0 2
Immunodeficiency 19 1 1 0 0 0 0 2
Immunodeficiency 27A; Hepatitis B virus, susceptibility to; Helicobacter pylori infection, susceptibility to; Mycobacterium tuberculosis, susceptibility to; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 1 0 0 0 1 0 2
Immunodeficiency 35 0 0 2 0 0 0 2
Immunodeficiency 60 0 0 0 2 0 0 2
Infantile liver failure syndrome 1 0 0 0 2 0 0 2
Infantile-onset periodic fever-panniculitis-dermatosis syndrome 0 0 0 2 0 0 2
Inflammatory bowel disease 17; Psoriasis 7, susceptibility to 0 0 0 2 0 0 2
Inflammatory skin and bowel disease, neonatal, 2; Lung cancer 0 0 1 1 0 0 2
Inosine triphosphatase deficiency; Developmental and epileptic encephalopathy, 35 0 0 0 1 1 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 0 2 0 0 2
Intellectual developmental disorder with short stature and behavioral abnormalities 0 0 0 2 0 0 2
Intellectual disability, X-linked 99; Intellectual disability, X-linked 99, syndromic, female-restricted 0 0 1 1 0 0 2
Intellectual disability, X-linked, with panhypopituitarism; Panhypopituitarism, X-linked 0 0 0 1 1 0 2
Intellectual disability, autosomal dominant 40 0 0 0 1 1 0 2
Intellectual disability, autosomal dominant 45 0 0 0 2 0 0 2
Intellectual disability, autosomal dominant 50 1 0 0 0 1 0 2
Intellectual disability, autosomal dominant 52 0 0 1 1 0 0 2
Intellectual disability, autosomal recessive 18 0 0 2 0 0 0 2
Intellectual disability, autosomal recessive 47 0 0 0 2 0 0 2
Intellectual disability, autosomal recessive 53; BLOOD GROUP, EMM SYSTEM 1 0 0 1 0 0 2
Intellectual disability, autosomal recessive 65 0 0 1 1 0 0 2
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 0 0 0 2 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 1 0 0 0 2
Iron-refractory iron deficiency anemia 0 1 0 0 1 0 2
Ischemic stroke; Alzheimer disease type 1; Preeclampsia/eclampsia 1; Essential hypertension, genetic 0 0 0 1 1 0 2
Isolated microphthalmia 3 0 0 2 0 0 0 2
Isolated thyroid-stimulating hormone deficiency 2 0 0 0 0 0 2
Johanson-Blizzard syndrome 0 1 0 1 0 0 2
Joubert syndrome 25 0 0 1 1 0 0 2
Joubert syndrome 26 0 0 0 2 0 0 2
Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe 0 1 1 0 0 0 2
Keratoconus 1; Craniofacial anomalies and anterior segment dysgenesis syndrome 0 0 0 2 0 0 2
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome; Proteasome-associated autoinflammatory syndrome 2 0 0 1 1 0 0 2
Lazy leukocyte syndrome 0 0 1 0 1 0 2
Leber optic atrophy 1 0 1 0 0 0 2
Leigh syndrome 0 1 1 0 0 0 2
Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 0 0 2 0 0 0 2
Leri-Weill dyschondrosteosis; SHOX-related short stature; Langer mesomelic dysplasia syndrome 0 0 0 1 1 0 2
Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3 0 0 0 2 0 0 2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; Microcephaly 20, primary, autosomal recessive 0 0 0 2 0 0 2
Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A 0 1 1 0 0 0 2
Leukodystrophy, hypomyelinating, 14 1 0 0 1 0 0 2
Lissencephaly due to LIS1 mutation 0 0 2 0 0 0 2
Long QT syndrome 16 0 0 1 0 1 0 2
Lung disease, immunodeficiency, and chromosome breakage syndrome; 0 0 2 0 0 0 2
MEGF10-related myopathy 0 0 1 1 0 0 2
MEGF8-related Carpenter syndrome 0 0 1 1 0 0 2
MERRF syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2 0 0 0 0 0 2
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 0 1 1 0 0 2
Macular degeneration, age-related, 3; Cutis laxa, autosomal recessive, type 1A; Cutis laxa, autosomal dominant 2; Charcot-Marie-Tooth disease, demyelinating, IIA 1H 0 0 2 0 0 0 2
Major depressive disorder; Attention deficit-hyperactivity disorder, susceptibility to, 7 0 0 1 1 0 0 2
Marinesco-Sjögren syndrome 0 0 1 1 0 0 2
Martsolf syndrome; Warburg micro syndrome 2 0 0 2 0 0 0 2
Matthew-Wood syndrome 0 0 2 0 0 0 2
Meckel syndrome, type 10 0 0 0 1 1 0 2
Meier-Gorlin syndrome 2 0 0 0 1 1 0 2
Meier-Gorlin syndrome 4 0 0 1 1 0 0 2
Merosin deficient congenital muscular dystrophy 0 0 2 0 0 0 2
Metabolic myopathy due to lactate transporter defect; Exercise-induced hyperinsulinism; Ketoacidosis due to monocarboxylate transporter-1 deficiency 0 0 0 2 0 0 2
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 1 0 1 0 0 0 2
Microcephaly 18, primary, autosomal dominant 0 0 0 2 0 0 2
Microcephaly 3, primary, autosomal recessive 0 0 0 2 0 0 2
Microcephaly and chorioretinopathy 3 0 0 1 1 0 0 2
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 0 0 2 0 0 2
Microphthalmia, syndromic 12 1 0 0 1 0 0 2
Miller syndrome 0 0 2 0 0 0 2
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1 0 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 2 0 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 22 0 0 0 1 1 0 2
Mitochondrial complex 1 deficiency, nuclear type 24 0 0 0 2 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 3 0 0 1 1 0 0 2
Mitochondrial complex III deficiency nuclear type 2 0 0 1 1 0 0 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 0 1 1 0 0 2
Mucocutaneous ulceration, chronic 0 0 0 2 0 0 2
Mucopolysaccharidosis-plus syndrome 0 0 0 2 0 0 2
Multiple mitochondrial dysfunctions syndrome 2 0 0 1 1 0 0 2
Muscle AMP deaminase deficiency 0 2 0 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 1 1 0 0 0 2
Myofibrillar myopathy 10 0 0 0 2 0 0 2
Myopia, high, with cataract and vitreoretinal degeneration 0 0 1 0 1 0 2
NAD(P)HX dehydratase deficiency 0 0 0 2 0 0 2
Nail-patella syndrome 2 0 0 0 0 0 2
Nemaline myopathy 9 0 0 1 1 0 0 2
Nephronophthisis-like nephropathy 2 0 0 0 2 0 0 2
Nephrotic syndrome, type 13 0 0 1 1 0 0 2
Nephrotic syndrome, type 22 0 0 0 1 1 0 2
Neurodegeneration with brain iron accumulation 5; Oculocutaneous albinism type 7 0 0 1 1 0 0 2
Neurodegeneration with brain iron accumulation 8 0 0 0 2 0 0 2
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 0 0 2 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 1 0 0 0 0 2
Neuropathy, hereditary sensory and autonomic, type 2A; Neuropathy, hereditary sensory and autonomic, type 2B 0 0 1 1 0 0 2
Olmsted syndrome 1; Isolated focal non-epidermolytic palmoplantar keratoderma 0 0 0 2 0 0 2
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 1 0 0 0 2
Paget disease of bone 2, early-onset; Familial expansile osteolysis; Autosomal recessive osteopetrosis 7 0 0 2 0 0 0 2
Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Myopathy, distal, with rimmed vacuoles 0 0 0 2 0 0 2
Palmoplantar keratoderma, Nagashima type 1 0 0 0 1 0 2
Parietal foramina 2; Frontonasal dysplasia with alopecia and genital anomaly; Craniosynostosis 5, susceptibility to 0 0 0 0 2 0 2
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 0 0 0 2 0 2
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 0 0 1 1 0 2
Periventricular nodular heterotopia 6 0 0 0 2 0 0 2
Periventricular nodular heterotopia 9; Hearing loss, autosomal dominant 83 0 0 0 2 0 0 2
Perrault syndrome 2 0 0 0 2 0 0 2
Perrault syndrome 3 0 0 1 1 0 0 2
Peters plus syndrome 0 0 0 1 1 0 2
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 0 0 2 0 0 2
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 0 0 1 0 1 0 2
Pilarowski-Bjornsson syndrome 0 0 0 2 0 0 2
Pituitary hormone deficiency, combined, 1 0 0 1 1 0 0 2
Plasminogen deficiency, type I 1 1 0 0 0 0 2
Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1 0 0 0 2 0 0 2
Polycystic kidney disease 5 0 0 1 1 0 0 2
Pontocerebellar hypoplasia type 7 0 0 0 2 0 0 2
Posterior polymorphous corneal dystrophy 3; Corneal dystrophy, Fuchs endothelial, 6 0 0 0 2 0 0 2
Prader-Willi syndrome 0 0 0 2 0 0 2
Primary ciliary dyskinesia 12 1 0 1 0 0 0 2
Primary ciliary dyskinesia 29 2 0 0 0 0 0 2
Primary ciliary dyskinesia 32 0 0 1 1 0 0 2
Primary familial polycythemia due to EPO receptor mutation; Thrombocythemia 1; Primary myelofibrosis 0 0 1 0 1 0 2
Primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; Amyotrophic lateral sclerosis type 12 0 0 0 1 1 0 2
Progressive myoclonic epilepsy type 7 1 0 1 0 0 0 2
Pyridoxal phosphate-responsive seizures 1 0 1 0 0 0 2
RIDDLE syndrome 0 1 0 1 0 0 2
Rajab interstitial lung disease with brain calcifications 1 0 1 0 1 0 0 2
Retinitis pigmentosa 27 1 0 1 0 0 0 2
Retinitis pigmentosa 46 0 0 2 0 0 0 2
Retinitis pigmentosa 67 0 0 1 1 0 0 2
Retinitis pigmentosa 75 0 0 0 1 1 0 2
Retinitis pigmentosa 78 0 0 2 0 0 0 2
Retinitis pigmentosa; Leber congenital amaurosis 7; Cone-rod dystrophy 2 0 0 0 1 1 0 2
Rhizomelic chondrodysplasia punctata type 3 0 0 1 1 0 0 2
Right atrial isomerism; Congenital heart defects, multiple types, 6 0 0 2 0 0 0 2
Robinow syndrome, autosomal recessive 2 0 0 0 2 0 0 2
SIN3A-related intellectual disability syndrome due to a point mutation 0 0 0 2 0 0 2
SLC35A2-congenital disorder of glycosylation 0 0 2 0 0 0 2
Sarcosine dehydrogenase deficiency 0 0 0 1 1 0 2
Scalp-ear-nipple syndrome 0 0 1 1 0 0 2
Seckel syndrome 9 0 0 0 2 0 0 2
Septo-optic dysplasia sequence 0 1 1 0 0 0 2
Sessile serrated polyposis cancer syndrome 0 0 0 2 0 0 2
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 0 0 2 0 0 2
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 0 2 0 0 2
Short-rib thoracic dysplasia 20 with polydactyly; Orofaciodigital syndrome 17 0 0 0 2 0 0 2
Shwachman-Diamond syndrome 1; Neutropenia, severe congenital, 8, autosomal dominant 0 0 0 2 0 0 2
Sifrim-Hitz-Weiss syndrome 0 0 0 2 0 0 2
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 1 0 1 0 0 0 2
Sitosterolemia; Gallbladder disease 4 0 0 2 0 0 0 2
Spastic paraplegia 52, autosomal recessive 2 0 0 0 0 0 2
Spermatogenic failure 43 0 0 0 2 0 0 2
Spermatogenic failure 65 0 0 0 2 0 0 2
Spinocerebellar ataxia type 11 0 0 2 0 0 0 2
Spinocerebellar ataxia type 28; Spastic ataxia 5; Optic atrophy 12 0 1 1 0 0 0 2
Spondylocostal dysostosis 1, autosomal recessive 0 1 0 1 0 0 2
Spondylocostal dysostosis 3, autosomal recessive 0 0 1 1 0 0 2
Spondylocostal dysostosis 5 0 0 0 2 0 0 2
Spondyloenchondrodysplasia with immune dysregulation 0 0 2 0 0 0 2
Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 0 0 2 0 0 2
Spondyloepiphyseal dysplasia with congenital joint dislocations; Larsen-like syndrome, B3GAT3 type 0 0 0 2 0 0 2
Spondyloepiphyseal dysplasia, kondo-fu type 0 0 0 2 0 0 2
Succinyl-CoA acetoacetate transferase deficiency 0 1 0 0 1 0 2
Syndromic X-linked intellectual disability 14 0 0 0 2 0 0 2
Syndromic X-linked intellectual disability 94 0 0 1 1 0 0 2
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome; Congenital disorder of glycosylation, type IIr 0 0 0 2 0 0 2
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 1 0 0 2
Syndromic microphthalmia type 5; Pituitary hormone deficiency, combined, 6 0 0 1 1 0 0 2
TELO2-related intellectual disability-neurodevelopmental disorder 0 1 0 1 0 0 2
TWIST1-related craniosynostosis; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome; Sweeney-Cox syndrome 0 0 1 1 0 0 2
Tenorio syndrome 0 0 1 1 0 0 2
Thrombophilia due to thrombin defect; Thyroid cancer, nonmedullary, 5 0 0 0 2 0 0 2
Thyroglobulin synthesis defect 1 1 0 0 0 0 2
Torsion dystonia 4; Hypomyelinating leukodystrophy 6 0 1 0 1 0 0 2
Torsion dystonia 6 0 1 1 0 0 0 2
Townes-Brocks syndrome 2 0 0 0 2 0 0 2
Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 0 0 0 2 0 0 2
Tumor predisposition syndrome 3; Glioma susceptibility 9 0 0 2 0 0 0 2
Unverricht-Lundborg syndrome 1 0 0 0 1 0 2
Van der Woude syndrome 2 0 1 0 0 1 0 2
Weill-Marchesani syndrome 1 0 0 0 2 0 0 2
Weiss-kruszka syndrome 0 0 0 2 0 0 2
Wieacker-Wolff syndrome; Wieacker-Wolff syndrome, female-restricted 0 1 0 0 1 0 2
Williams syndrome 0 0 0 2 0 0 2
Wilson-Turner syndrome 0 0 1 1 0 0 2
X-linked Opitz G/BBB syndrome 0 0 0 2 0 0 2
X-linked ichthyosis with steryl-sulfatase deficiency 0 0 0 2 0 0 2
X-linked intellectual disability Cabezas type 0 0 1 1 0 0 2
X-linked intellectual disability-short stature-overweight syndrome 0 0 0 2 0 0 2
X-linked sideroblastic anemia with ataxia 0 0 0 2 0 0 2
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 0 0 1 0 0 1
46,XX ovarian dysgenesis-short stature syndrome 0 0 0 1 0 0 1
4p partial monosomy syndrome; Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 0 0 1 0 0 1
4p partial monosomy syndrome; Rauch-Steindl syndrome 0 0 0 1 0 0 1
ABri amyloidosis; ADan amyloidosis; Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 0 0 1 0 0 0 1
ALG11-congenital disorder of glycosylation 0 0 0 1 0 0 1
ALG3-congenital disorder of glycosylation 0 0 1 0 0 0 1
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy 0 0 1 0 0 0 1
Acrocapitofemoral dysplasia; Brachydactyly type A1A 0 0 0 1 0 0 1
Acrodysostosis 2 with or without hormone resistance 0 0 0 0 1 0 1
Acromesomelic dysplasia 2C, Hunter-Thompson type; Type A2 brachydactyly; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5 0 0 1 0 0 0 1
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 0 0 1 0 0 1
Acute lymphoid leukemia; Myelodysplastic syndrome; Intellectual disability, autosomal dominant 42 0 0 0 1 0 0 1
Adams-Oliver syndrome 1 0 0 0 1 0 0 1
Adams-Oliver syndrome 6 0 0 1 0 0 0 1
Adenosine kinase deficiency 0 0 1 0 0 0 1
Adult-onset autosomal dominant demyelinating leukodystrophy; Microcephaly 26, primary, autosomal dominant 0 0 0 1 0 0 1
Agammaglobulinemia 6, autosomal recessive 0 0 1 0 0 0 1
Alcohol sensitivity, acute 0 0 0 1 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 0 0 0 1 0 0 1
Amelogenesis imperfecta, type 1J 0 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 15 0 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 1; Charcot-Marie-Tooth disease axonal type 2CC 0 0 0 0 1 0 1
Amyotrophic lateral sclerosis type 1; Spastic tetraplegia and axial hypotonia, progressive 1 0 0 0 0 0 1
Amyotrophic lateral sclerosis-parkinsonism-dementia complex 0 0 0 0 1 0 1
Aortic aneurysm, familial thoracic 9 0 0 0 1 0 0 1
Aortic valve disease 3 0 0 0 1 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 2 0 0 1 0 0 0 1
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 0 1 0 0 0 0 1
Au-Kline syndrome 0 1 0 0 0 0 1
Auditory neuropathy-optic atrophy syndrome 1 0 0 0 0 0 1
Autism, susceptibility to, 16 0 0 0 1 0 0 1
Autism, susceptibility to, 5 0 0 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 0 0 1
Autoimmune lymphoproliferative syndrome type 1; Lung cancer 0 0 1 0 0 0 1
Autoimmune lymphoproliferative syndrome type 2A; Gastric cancer; Lymphoma, non-Hodgkin, familial 0 0 1 0 0 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 27; Wilms tumor 6; Fibromatosis, gingival, 5 0 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 41 0 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 64 0 0 0 0 1 0 1
Autosomal dominant sideroblastic anemia; Even-plus syndrome 0 0 0 1 0 0 1
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 10 0 0 0 1 0 0 1
Autosomal recessive cutis laxa type 2D; Epileptic encephalopathy, infantile or early childhood, 3 0 0 0 1 0 0 1
Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 0 0 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 23 0 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2X 0 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 101 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 25 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 32 0 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 44 0 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 76 0 0 1 0 0 0 1
Autosomal recessive osteopetrosis 2 0 0 0 1 0 0 1
Autosomal recessive osteopetrosis 5 0 0 0 1 0 0 1
Autosomal recessive osteopetrosis 6; Osteopetrosis, autosomal dominant 3 0 0 1 0 0 0 1
Autosomal recessive osteopetrosis 8 0 0 0 1 0 0 1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 0 0 1 0 0 1
Autosomal recessive spastic paraplegia type 76 0 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 16; Spinocerebellar ataxia 48 0 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 2 0 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 20 0 0 1 0 0 0 1
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 0 0 1 0 0 1
BLOOD GROUP--LUTHERAN SYSTEM; LuLu phenotype 0 0 0 0 1 0 1
Bailey-Bloch congenital myopathy 1 0 0 0 0 0 1
Bamforth-Lazarus syndrome; Thyroid cancer, nonmedullary, 4 0 0 0 1 0 0 1
Bartter disease type 5 0 0 0 1 0 0 1
Basal cell carcinoma, susceptibility to, 1; Curry-Jones syndrome; Hamartoma of hypothalamus 0 0 0 1 0 0 1
Beaded hair; Erythrokeratodermia variabilis et progressiva 5 0 0 0 1 0 0 1
Beckwith-Wiedemann syndrome; Sotos syndrome 0 0 1 0 0 0 1
Beckwith-Wiedemann syndrome; Wilms tumor 1; Silver-Russell syndrome 1; Silver-Russell syndrome 3 0 1 0 0 0 0 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 0 0 1 0 0 1
Bietti crystalline corneoretinal dystrophy 0 1 0 0 0 0 1
Birk-Barel syndrome 0 0 1 0 0 0 1
Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 0 0 0 1 0 0 1
Body mass index quantitative trait locus 18 0 0 0 1 0 0 1
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Vitamin K-dependent clotting factors, combined deficiency of, type 1 0 0 1 0 0 0 1
Bone fragility with contractures, arterial rupture, and deafness 0 0 0 1 0 0 1
Bone marrow failure syndrome 4 0 0 0 0 1 0 1
Brachydactyly-arterial hypertension syndrome 0 0 0 1 0 0 1
Brody myopathy 0 1 0 0 0 0 1
Brooke-Spiegler syndrome; Familial cylindromatosis; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8; Trichoepithelioma, multiple familial, 1 1 0 0 0 0 0 1
Bullous ichthyosiform erythroderma; Ichthyosis hystrix of Curth-Macklin; Diffuse nonepidermolytic palmoplantar keratoderma; Annular epidermolytic ichthyosis; Keratosis palmoplantaris striata 3; Epidermolytic palmoplantar keratoderma 0 1 0 0 0 0 1
C syndrome 0 0 0 1 0 0 1
CARASIL syndrome; Age related macular degeneration 7; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 0 0 0 1
CODAS syndrome 0 0 0 1 0 0 1
COG1 congenital disorder of glycosylation 0 1 0 0 0 0 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 1 0 0 0 0 1
Camptomelic dysplasia 0 0 0 1 0 0 1
Cardiac arrhythmia 0 0 1 0 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 0 0 1 0 0 1
Cardiovascular phenotype 0 0 1 0 0 0 1
Carpal tunnel syndrome; Hyperthyroxinemia, dystransthyretinemic; Familial amyloid neuropathy 1 0 0 0 0 0 1
Cataract 1 multiple types; Chromosome 1q21.1 deletion syndrome 0 0 0 1 0 0 1
Cataract 10 multiple types 0 0 0 1 0 0 1
Cataract 14 multiple types 0 0 0 1 0 0 1
Cataract 17 multiple types 0 0 0 1 0 0 1
Cataract 20 multiple types 0 0 1 0 0 0 1
Cataract 22 multiple types 0 0 0 1 0 0 1
Catel-Manzke syndrome 1 0 0 0 0 0 1
Celiac disease, susceptibility to, 4 0 0 0 1 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 0 1 0 0 1
Cerebellar-facial-dental syndrome 0 0 0 1 0 0 1
Cerebral cavernous malformation 1 0 0 0 0 0 1
Cernunnos-XLF deficiency 0 0 1 0 0 0 1
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 0 0 0 1 0 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 6 0 0 0 0 1 0 1
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Severe X-linked mitochondrial encephalomyopathy 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate C 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate C; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma; Pheochromocytoma 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79 0 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 5 0 0 1 0 0 0 1
Chondrodysplasia-pseudohermaphroditism syndrome 0 0 0 1 0 0 1
Choroideremia 1 0 0 0 0 0 1
Chromosome 1p32-p31 deletion syndrome 1 0 0 0 0 0 1
Chromosome 1q21.1 deletion syndrome; Atrial standstill 1; Atrial fibrillation, familial, 11 0 0 1 0 0 0 1
Chronic atrial and intestinal dysrhythmia 1 0 0 0 0 0 1
Chronic myelogenous leukemia, BCR-ABL1 positive; Acute lymphoid leukemia 0 0 0 1 0 0 1
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin deficiency 1 0 0 0 0 0 1
Chylomicron retention disease 0 0 0 0 1 0 1
Ciliary dyskinesia, primary, 42 0 0 0 1 0 0 1
Citrullinemia type II; Neonatal intrahepatic cholestasis due to citrin deficiency 0 0 1 0 0 0 1
Clark-Baraitser syndrome 0 0 1 0 0 0 1
Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 0 1 0 0 0 0 1
Coffin-Siris syndrome 7 0 0 0 1 0 0 1
Cold-induced sweating syndrome 1 0 0 1 0 0 0 1
Cole-Carpenter syndrome 1 0 0 0 1 0 0 1
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome; Anophthalmia/microphthalmia-esophageal atresia syndrome 0 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 20 0 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 21 0 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 26 0 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 4 0 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 7; Hereditary spastic paraplegia 55 1 0 0 0 0 0 1
Combined oxidative phosphorylation deficiency 29 0 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 39 0 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 0 0 1 0 0 1
Cone-rod dystrophy and hearing loss 2 0 0 0 1 0 0 1
Congenital absence of salivary gland; Levy-Hollister syndrome 0 0 0 1 0 0 1
Congenital afibrinogenemia; Familial dysfibrinogenemia 0 0 0 1 0 0 1
Congenital anomalies of kidney and urinary tract 2 0 0 0 0 1 0 1
Congenital bile acid synthesis defect 2 0 1 0 0 0 0 1
Congenital bile acid synthesis defect 6 0 0 0 1 0 0 1
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 1 0 0 0 0 0 1
Congenital diarrhea 7 with exudative enteropathy 1 0 0 0 0 0 1
Congenital disorder of glycosylation type 1E 0 0 1 0 0 0 1
Congenital disorder of glycosylation, type IIq 0 0 0 1 0 0 1
Congenital disorder of glycosylation, type iit 0 0 0 1 0 0 1
Congenital generalized lipodystrophy type 2; Neuronopathy, distal hereditary motor, type 5A; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy 0 0 1 0 0 0 1
Congenital heart defects, multiple types, 4; 46,xx sex reversal 5 0 0 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 0 0 1
Congenital myasthenic syndrome 15; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies; Myopathy, epilepsy, and progressive cerebral atrophy 0 0 0 1 0 0 1
Congenital myasthenic syndrome 19 0 0 1 0 0 0 1
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 0 0 0 1 0 0 1
Congenital myopathy with reduced type 2 muscle fibers 0 0 0 0 1 0 1
Congenital primary aphakia; Cataract 34 multiple types; Aortic aneurysm, familial thoracic 11, susceptibility to 0 0 0 0 1 0 1
Congenital stationary night blindness 1D 1 0 0 0 0 0 1
Connective tissue disorder 0 0 1 0 0 0 1
Craniosynostosis 4; Chitayat syndrome 1 0 0 0 0 0 1
Cryptorchidism 0 0 1 0 0 0 1
Curly hair, ankyloblepharon, nail dysplasia syndrome; Bartsocas-Papas syndrome 1 0 0 0 1 0 0 1
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 0 0 0 1 0 0 1
DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 0 0 1 0 0 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 0 1 0 0 0 1
Deafness, Y-linked 2 0 0 0 1 0 0 1
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 0 0 1 0 1
Dehydrated hereditary stomatocytosis 2 0 0 0 1 0 0 1
Dermatofibrosis lenticularis disseminata 0 0 0 1 0 0 1
Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 24 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 3 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 39 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 44; Spinocerebellar ataxia, autosomal recessive 24 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 49 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 50 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 51 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 56 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 61 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 64 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 79 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 87 0 0 1 0 0 0 1
Diabetes mellitus, transient neonatal, 1 0 0 0 1 0 0 1
Diamond-Blackfan anemia 12 0 0 1 0 0 0 1
Diamond-Blackfan anemia 13 0 0 0 1 0 0 1
Dias-Logan syndrome 0 0 1 0 0 0 1
Diets-Jongmans syndrome 0 1 0 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 0 0 1
Distal arthrogryposis type 2B1 0 1 0 0 0 0 1
Distal arthrogryposis type 5D 0 0 0 1 0 0 1
Doyne honeycomb retinal dystrophy 0 0 0 0 1 0 1
Dyggve-Melchior-Clausen syndrome; Smith-McCort dysplasia 1 0 1 0 0 0 0 1
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 0 1 0 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 0 0 0 1
Dystonia 24 0 0 1 0 0 0 1
Dystonia 25 0 0 0 1 0 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 0 0 1 0 0 1
Ectodermal dysplasia and immunodeficiency 2 0 0 0 1 0 0 1
Ehlers-Danlos syndrome progeroid type 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic-like, 2 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 0 1 0 0 0 1
Elliptocytosis 1 0 0 0 1 0 0 1
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome 0 0 1 0 0 0 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 0 0 0 1 0 0 1
Endocrine-cerebro-osteodysplasia syndrome; Epilepsy, juvenile myoclonic, susceptibility to, 10 0 0 0 1 0 0 1
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7 0 0 1 0 0 0 1
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1 0 0 1 0 0 0 1
Eosinophil peroxidase deficiency 0 0 0 1 0 0 1
Epidermodysplasia verruciformis, susceptibility to, 4 0 0 0 1 0 0 1
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex 1C, localized; Dowling-Degos disease 1 1 0 0 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 1 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual disability, X-linked 50 0 0 1 0 0 0 1
Epilepsy, childhood absence 2; Febrile seizures, familial, 8 0 0 1 0 0 0 1
Epilepsy, early-onset, vitamin B6-dependent 1 0 0 0 0 0 1
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 0 1 0 0 1
Epilepsy, familial adult myoclonic, 4 0 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 0 1 0 0 0 0 1
Epilepsy, progressive myoclonic, 11 0 0 0 1 0 0 1
Essential hypertension; Renal tubular dysgenesis 0 1 0 0 0 0 1
Exercise intolerance, riboflavin-responsive 0 0 0 1 0 0 1
Facial paresis, hereditary congenital, 3 0 0 0 1 0 0 1
Factor XIII, A subunit, deficiency of; Thrombophilia due to thrombin defect; Myocardial infarction, susceptibility to 0 0 1 0 0 0 1
Factor XIII, b subunit, deficiency of 0 0 1 0 0 0 1
Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 2B; Hepatocellular carcinoma; Lung cancer 0 0 0 1 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4 0 0 1 0 0 0 1
Familial cancer of breast; Fanconi anemia complementation group J; Tracheoesophageal fistula 1 0 0 0 0 0 1
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Tracheoesophageal fistula 0 0 1 0 0 0 1
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2 1 0 0 0 0 0 1
Familial cancer of breast; Proteus syndrome; Neoplasm of ovary; Cowden syndrome 6; Colorectal cancer 0 0 0 1 0 0 1
Familial cavitary optic disk anomaly 0 0 0 1 0 0 1
Familial encephalopathy with neuroserpin inclusion bodies 0 0 1 0 0 0 1
Fanconi anemia complementation group U; Spermatogenic failures 50; Premature ovarian failure 17 0 0 1 0 0 0 1
Fatty acyl-CoA reductase 1 deficiency; CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 0 0 0 1 0 0 1
Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74 0 0 1 0 0 0 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1 0 0 1 0 0 0 1
Filippi syndrome 0 1 0 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 0 0 1
Focal dermal hypoplasia 1 0 0 0 0 0 1
Fontaine progeroid syndrome 1 0 0 0 0 0 1
Fraser syndrome 2 0 0 1 0 0 0 1
Freeman-Sheldon syndrome; Distal arthrogryposis type 2B1; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 1 0 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 0 0 1 0 0 0 1
Fructose-biphosphatase deficiency 0 0 0 0 1 0 1
Fumarase deficiency 1 0 0 0 0 0 1
Galloway-Mowat syndrome 2, X-linked 0 0 0 0 1 0 1
Galloway-Mowat syndrome 3 0 0 1 0 0 0 1
Galloway-Mowat syndrome 5 0 0 0 1 0 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures 0 0 1 0 0 0 1
Giant axonal neuropathy 2 0 0 0 1 0 0 1
Glaucoma 1, open angle, F 0 0 0 1 0 0 1
Glucocorticoid deficiency 2 0 0 0 1 0 0 1
Glutaryl-CoA oxidase deficiency 1 0 0 0 0 0 1
Gluthathione peroxidase deficiency 0 0 0 0 1 0 1
Glycogen storage disease IXd 0 0 1 0 0 0 1
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 0 0 1 0 0 0 1
Griscelli syndrome type 3 0 0 0 1 0 0 1
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 1 0 0 0 1
HSD10 mitochondrial disease 0 0 1 0 0 0 1
Hao-Fountain syndrome 0 0 0 0 1 0 1
Hearing loss, autosomal dominant 74 0 0 0 1 0 0 1
Hearing loss, autosomal recessive 108 0 0 0 1 0 0 1
Hearing loss, autosomal recessive 115 0 0 0 1 0 0 1
Heart and brain malformation syndrome 0 0 0 1 0 0 1
Heme oxygenase 1 deficiency; COPD, severe early onset 0 0 0 1 0 0 1
Hemolytic anemia due to glucophosphate isomerase deficiency 0 0 0 0 1 0 1
Hennekam lymphangiectasia-lymphedema syndrome 3 0 0 0 1 0 0 1
Hepatitis, fulminant viral, susceptibility to 0 0 0 1 0 0 1
Hereditary cerebral amyloid angiopathy, Icelandic type; Age related macular degeneration 11 0 0 0 0 1 0 1
Hereditary cryohydrocytosis with reduced stomatin 0 0 1 0 0 0 1
Hereditary spastic paraplegia 12 0 0 0 0 1 0 1
Hereditary spastic paraplegia 35 0 0 1 0 0 0 1
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 0 0 0 1 0 0 1
Hereditary spastic paraplegia 73 0 0 1 0 0 0 1
Hereditary spastic paraplegia 75 0 0 0 1 0 0 1
Hermansky-Pudlak syndrome 9 0 0 1 0 0 0 1
Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked, with or without hydrocephalus 0 0 1 0 0 0 1
Heterotaxy, visceral, 4, autosomal 0 0 0 0 1 0 1
Heterotaxy, visceral, 6, autosomal 0 0 0 1 0 0 1
Heterotaxy, visceral, 7, autosomal 0 0 0 1 0 0 1
Hip dysplasia, Beukes type; Spondyloepimetaphyseal dysplasia, di rocco type 0 0 0 1 0 0 1
Holoprosencephaly 4 0 0 1 0 0 0 1
Huntington disease-like 2 0 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related early-onset multisystem autoimmune disease 0 0 0 0 1 0 1
Hyper-IgM syndrome type 1 1 0 0 0 0 0 1
Hyper-IgM syndrome type 2 0 0 0 1 0 0 1
Hyper-IgM syndrome type 3 0 0 1 0 0 0 1
Hyperekplexia 4 0 0 0 1 0 0 1
Hyperinsulinism-hyperammonemia syndrome 1 0 0 0 0 0 1
Hyperlysinemia 0 0 0 1 0 0 1
Hyperostosis cranialis interna; Hypermanganesemia with dystonia 2 0 0 0 1 0 0 1
Hyperparathyroidism, transient neonatal 0 0 0 1 0 0 1
Hyperphosphatasemia with bone disease 0 0 1 0 0 0 1
Hyperpigmentation with or without hypopigmentation, familial progressive; SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN; Autosomal dominant nonsyndromic hearing loss 69 0 0 0 1 0 0 1
Hypertrophic cardiomyopathy 19 0 0 1 0 0 0 1
Hyperuricemic nephropathy, familial juvenile type 4 0 0 0 1 0 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 0 0 0 1 0 0 1
Hypogonadotropic hypogonadism 6 with or without anosmia 0 1 0 0 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 0 1 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadotropic hypogonadism 22 with or without anosmia 0 0 0 1 0 0 1
Hypogonadotropic hypogonadism 9 with or without anosmia 0 0 0 1 0 0 1
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism; Tricho-dento-osseous syndrome 0 1 0 0 0 0 1
Hypomyelinating leukodystrophy 12; Dystonia 32 0 0 1 0 0 0 1
Hypothyroidism, congenital, nongoitrous, 2 0 0 0 1 0 0 1
Hypotonia with lactic acidemia and hyperammonemia; Ovarian dysgenesis 7 0 1 0 0 0 0 1
Hypotrichosis 2; Peeling skin syndrome 1 0 0 0 1 0 0 1
Ichthyosis bullosa of Siemens 0 0 0 0 1 0 1
Idiopathic CD4 lymphocytopenia 0 0 1 0 0 0 1
Immunodeficiency 14 0 0 1 0 0 0 1
Immunodeficiency 18 0 0 0 1 0 0 1
Immunodeficiency 25 0 1 0 0 0 0 1
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 0 0 1 0 0 0 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome 1 0 0 0 0 0 1
Immunodeficiency 53 0 0 0 1 0 0 1
Immunodeficiency 61 0 0 0 1 0 0 1
Immunodeficiency 67 0 0 0 1 0 0 1
Immunodeficiency 76 0 0 0 1 0 0 1
Immunodeficiency, common variable, 10 0 0 0 1 0 0 1
Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 3 0 0 1 0 0 0 1
Immunodeficiency, common variable, 5 0 0 1 0 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 0 0 0 1 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 0 1 0 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 0 0 1 0 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Charcot-Marie-Tooth disease type 2Y 1 0 0 0 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis type 20 0 0 0 1 0 0 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 0 0 0 1 0 0 1
Infantile-onset generalized dyskinesia with orofacial involvement; Striatal degeneration, autosomal dominant 2 0 0 0 1 0 0 1
Infertility associated with multi-tailed spermatozoa and excessive DNA 1 0 0 0 0 0 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 0 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 1 0 0 0 0 1
Intellectual developmental disorder with neuropsychiatric features 0 0 1 0 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 0 1 0 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 68 0 1 0 0 0 0 1
Intellectual developmental disorder, autosomal recessive 71 0 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 74 0 0 1 0 0 0 1
Intellectual disability, X-linked 100 0 0 0 1 0 0 1
Intellectual disability, X-linked 41 0 0 0 1 0 0 1
Intellectual disability, X-linked 58 0 0 0 1 0 0 1
Intellectual disability, X-linked 9 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 30 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 46 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 47 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 48 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 51 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 56 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 14 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 54 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 56 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 57 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 61 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 6; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 0 0 1 0 0 1
Intellectual disability, autosomal recessive 7 0 0 0 1 0 0 1
Interstitial lung disease 1 0 0 1 0 0 0 1
Ischemic stroke; Congenital prothrombin deficiency; Pregnancy loss, recurrent, susceptibility to, 2; Thrombophilia due to thrombin defect 0 0 0 0 1 0 1
Isolated anhidrosis with normal sweat glands 0 0 0 1 0 0 1
Isolated lutropin deficiency 0 0 0 0 1 0 1
Isolated microphthalmia 2; Microphthalmia, isolated, with coloboma 3 0 0 1 0 0 0 1
Isolated microphthalmia 6 0 0 1 0 0 0 1
Isolated microphthalmia 8 0 0 0 1 0 0 1
Isolated sedoheptulokinase deficiency 0 0 0 1 0 0 1
Joubert syndrome 14 0 0 0 1 0 0 1
Joubert syndrome 35; Retinitis pigmentosa 83 0 0 1 0 0 0 1
Joubert syndrome 39 0 1 0 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 1 0 0 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex 1C, localized; Junctional epidermolysis bullosa, non-Herlitz type 0 1 0 0 0 0 1
Juvenile onset Parkinson disease 19A 0 0 0 1 0 0 1
KINSSHIP syndrome 0 1 0 0 0 0 1
KNOPS BLOOD GROUP SYSTEM; Malaria, susceptibility to 0 0 0 1 0 0 1
Keipert syndrome; Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 0 0 0 1 0 1
Khan-Khan-Katsanis syndrome 0 0 0 1 0 0 1
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4 0 0 0 1 0 0 1
Klippel-Feil syndrome 3, autosomal dominant; Isolated microphthalmia 7; Microphthalmia, isolated, with coloboma 6 0 0 0 1 0 0 1
Knobloch syndrome 0 0 1 0 0 0 1
Large congenital melanocytic nevus; Neurocutaneous melanocytosis; Linear nevus sebaceous syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type 4; Colorectal cancer 0 0 1 0 0 0 1
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency; Hypercholesterolemia, familial, 1 0 0 1 0 0 0 1
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency; Hypercholesterolemia, familial, 1; Short stature due to growth hormone secretagogue receptor deficiency 0 0 1 0 0 0 1
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 0 1
Lattice corneal dystrophy Type III 0 0 1 0 0 0 1
Leber congenital amaurosis 12 0 0 1 0 0 0 1
Leber congenital amaurosis 14; Retinitis pigmentosa 0 0 1 0 0 0 1
Leber congenital amaurosis 2; Retinitis pigmentosa 20 1 0 0 0 0 0 1
Leber congenital amaurosis 9 1 0 0 0 0 0 1
Leber optic atrophy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 1 0 0 0 1
Legius syndrome 0 0 1 0 0 0 1
Leigh syndrome; Mitochondrial complex IV deficiency, nuclear type 1 0 0 1 0 0 0 1
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Neoplasm of ovary 1 0 0 0 0 0 1
Leprosy, susceptibility to, 3; Mycobacterium tuberculosis, susceptibility to; Colorectal cancer 0 0 0 1 0 0 1
Lethal congenital contracture syndrome 9 0 0 0 1 0 0 1
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 0 1 0 0 0 1
Leukodystrophy, hypomyelinating, 17 0 0 0 1 0 0 1
Lichtenstein-Knorr syndrome 0 0 0 1 0 0 1
Linear skin defects with multiple congenital anomalies 1; Linear skin defects with multiple congenital anomalies 3; Mitochondrial complex I deficiency, nuclear type 1 1 0 0 0 0 0 1
Lipoic acid synthetase deficiency 0 0 1 0 0 0 1
Lipoyl transferase 1 deficiency 1 0 0 0 0 0 1
Loeys-Dietz syndrome 6; Congenital heart defects, multiple types, 8, with or without heterotaxy 0 0 0 0 1 0 1
Lower urinary tract obstruction, congenital 0 0 0 1 0 0 1
Lymphatic malformation 9 0 0 0 1 0 0 1
Lymphoproliferative syndrome 1 0 0 1 0 0 0 1
Lynch syndrome 1 0 0 0 1 0 0 1
MEDNIK syndrome 0 0 0 1 0 0 1
MPDU1-congenital disorder of glycosylation 0 0 1 0 0 0 1
Macrocephaly-developmental delay syndrome 1 0 0 0 0 0 1
Macrothrombocytopenia, isolated, 2, autosomal dominant 0 0 1 0 0 0 1
Mannose-binding lectin deficiency 0 0 0 1 0 0 1
McLeod neuroacanthocytosis syndrome 0 0 1 0 0 0 1
Medulloblastoma; Pilomatrixoma; Neoplasm of ovary; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7 1 0 0 0 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 0 0 1 0 0 1
Mesothelioma, malignant; Mucosa-associated lymphoma; Immunodeficiency 37; Lymphoma, non-Hodgkin, familial; Germ cell tumor of testis 0 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type 0 0 0 1 0 0 1
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 1 0 0 0 1
Microcephaly 11, primary, autosomal recessive 0 0 1 0 0 0 1
Microcephaly 13, primary, autosomal recessive 0 1 0 0 0 0 1
Microcephaly 15, primary, autosomal recessive 0 0 0 1 0 0 1
Microcephaly 17, primary, autosomal recessive 0 0 0 1 0 0 1
Microcephaly 19, primary, autosomal recessive 0 0 0 1 0 0 1
Microcephaly, developmental delay, and brittle hair syndrome 0 0 0 1 0 0 1
Microcephaly, growth deficiency, seizures, and brain malformations; Galloway-Mowat syndrome 6 0 0 0 1 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 0 0 1 0 0 0 1
Microcornea-myopic chorioretinal atrophy 0 0 1 0 0 0 1
Microphthalmia with limb anomalies 0 0 0 1 0 0 1
Microphthalmia, syndromic 1; Ogden syndrome 0 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 11 0 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 1 0 0 0 0 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 10 0 1 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 11 0 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 12 0 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 18 0 1 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 19 1 0 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 25 0 1 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 6 0 0 0 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 7 0 0 0 0 1 0 1
Mitochondrial complex 4 deficiency, nuclear type 16 0 0 0 1 0 0 1
Mitochondrial complex I deficiency 0 1 0 0 0 0 1
Mitochondrial complex III deficiency nuclear type 4 0 0 1 0 0 0 1
Mitochondrial complex III deficiency nuclear type 5 0 0 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 6 0 0 0 1 0 0 1
Mitochondrial complex IV deficiency, nuclear type 1 0 0 1 0 0 0 1
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 0 0 1 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 0 0 0 1 0 1
Mulibrey nanism syndrome 0 0 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2 0 0 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 0 0 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 6 0 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 0 0 1 0 0 0 1
Myasthenic syndrome, congenital, 22 0 1 0 0 0 0 1
Mycobacterium tuberculosis, susceptibility to; Malaria, susceptibility to; Bacteremia, susceptibility to, 1 0 0 0 0 1 0 1
Myelodysplastic syndrome 0 1 0 0 0 0 1
Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2; Bleeding disorder, platelet-type, 24 0 0 1 0 0 0 1
Myoclonic dystonia 11 0 0 1 0 0 0 1
Myoclonic dystonia 26 0 0 1 0 0 0 1
Myofibromatosis, infantile, 1; Myeloproliferative disorder, chronic, with eosinophilia; Acroosteolysis-keloid-like lesions-premature aging syndrome; Idiopathic basal ganglia calcification 1; Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 0 1 0 0 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 0 0 1 0 0 1
Myopathy with abnormal lipid metabolism 0 0 0 1 0 0 1
Myopathy, congenital, with respiratory insufficiency and bone fractures; Myopathy, congenital proximal, with minicore lesions 0 0 0 1 0 0 1
Myopathy, distal, 5 0 1 0 0 0 0 1
Myopathy, lactic acidosis, and sideroblastic anemia 2 0 1 0 0 0 0 1
Myopia 25, autosomal dominant 0 0 0 1 0 0 1
Nager syndrome 0 0 0 1 0 0 1
Nasopharyngeal carcinoma, susceptibility to, 3 0 0 0 1 0 0 1
Nemaline myopathy 10 0 0 1 0 0 0 1
Nemaline myopathy 5 0 0 0 1 0 0 1
Nemaline myopathy 8 0 0 1 0 0 0 1
Nephrotic syndrome 14 0 0 0 1 0 0 1
Nephrotic syndrome, type 10 0 0 1 0 0 0 1
Nephrotic syndrome, type 11; Ovarian dysgenesis 6; Galloway-Mowat syndrome 7 0 0 0 1 0 0 1
Nephrotic syndrome, type 8 0 0 1 0 0 0 1
Neural tube defect 0 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia, type 12 0 1 0 0 0 0 1
Neurodegeneration with brain iron accumulation 7 0 0 0 1 0 0 1
Neurodegeneration, infantile-onset, biotin-responsive 0 0 0 1 0 0 1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 0 0 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 0 0 1 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 0 1 0 0 1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 0 1 0 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 0 0 1 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 0 0 0 1 0 0 1
Neurodevelopmental disorder with midbrain and hindbrain malformations 0 0 0 1 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 0 0 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 0 0 1
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0 0 0 1 0 0 1
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 1 0 0 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 0 0 1 0 0 1
Neurofacioskeletal syndrome with or without renal agenesis 0 0 0 0 1 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 0 0 1 0 0 1
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy 0 0 0 1 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 0 0 0 1 0 0 1
Nystagmus 1, congenital, X-linked 1 0 0 0 0 0 1
Occult macular dystrophy 0 0 1 0 0 0 1
Ocular albinism, type I; Nystagmus 6, congenital, X-linked 0 0 1 0 0 0 1
Oculopharyngeal muscular dystrophy 1 0 0 0 0 0 1
Okur-Chung neurodevelopmental syndrome 0 0 0 1 0 0 1
Oocyte maturation defect 3 0 0 0 1 0 0 1
Opsismodysplasia 0 0 0 1 0 0 1
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 0 0 1 0 0 0 1
Orofacial cleft 15 0 0 0 1 0 0 1
Orofacial cleft 5; Hypoplastic enamel-onycholysis-hypohidrosis syndrome; Tooth agenesis, selective, 1 0 0 0 1 0 0 1
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 1 1 0 0 0 0 0 1
Orofaciodigital syndrome type 14 0 1 0 0 0 0 1
Orthostatic hypotension 1 0 0 1 0 0 0 1
Osteochondritis dissecans 0 0 1 0 0 0 1
Osteocraniostenosis; Autosomal dominant Kenny-Caffey syndrome 0 0 0 0 1 0 1
Osteogenesis imperfecta type 14 0 0 0 1 0 0 1
Osteogenesis imperfecta type 15; OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO 0 0 0 1 0 0 1
Osteogenesis imperfecta type 16 0 0 1 0 0 0 1
Osteogenesis imperfecta type 17 0 0 1 0 0 0 1
Osteogenesis imperfecta type 5 0 0 1 0 0 0 1
Osteosclerotic metaphyseal dysplasia 0 0 0 1 0 0 1
PEHO syndrome 0 0 0 1 0 0 1
PEHO-like syndrome 0 0 0 1 0 0 1
PHARC syndrome 0 0 1 0 0 0 1
PLIN1-related familial partial lipodystrophy 0 0 1 0 0 0 1
PPARG-related familial partial lipodystrophy; Carotid intimal medial thickness 1; Type 2 diabetes mellitus; Obesity 0 0 0 0 1 0 1
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 0 0 0 1 0 1
Paganini-Miozzo syndrome 0 0 0 1 0 0 1
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 0 1 0 0 1
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 0 1 0 0 0 0 1
Palmoplantar keratoderma, punctate type 1A 0 0 1 0 0 0 1
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 0 0 1 0 0 0 1
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 0 0 1
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2; Neurodevelopmental disorder with epilepsy and hemochromatosis 0 0 0 1 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 1 0 0 0 1
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0 0 0 1 0 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 10A (Zellweger); Peroxisome biogenesis disorder 10B 0 0 1 0 0 0 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 0 0 1 0 0 1
Pigmentary retinal dystrophy 1 0 0 0 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 1 0 0 1
Pili torti-deafness syndrome; GRACILE syndrome; Leigh syndrome; Mitochondrial complex III deficiency nuclear type 1 1 0 0 0 0 0 1
Pituitary dependent hypercortisolism 0 0 1 0 0 0 1
Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to 1 0 0 0 0 0 1
Platelet-type bleeding disorder 15 0 0 1 0 0 0 1
Platelet-type bleeding disorder 17 0 0 1 0 0 0 1
Polyagglutinable erythrocyte syndrome 0 0 0 1 0 0 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 0 0 0 1 0 0 1
Polymicrogyria with optic nerve hypoplasia 0 0 1 0 0 0 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Spastic paraplegia 84, autosomal recessive; Gastrointestinal defects and immunodeficiency syndrome 2 0 0 1 0 0 0 1
Polysubstance abuse, susceptibility to 0 0 0 1 0 0 1
Pontocerebellar hypoplasia type 2C 0 0 1 0 0 0 1
Pontocerebellar hypoplasia, type 1C 0 0 0 1 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 0 0 0 1 0 1
Porphobilinogen synthase deficiency 0 0 0 1 0 0 1
Premature ovarian failure 2B 0 0 0 1 0 0 1
Premature ovarian failure 5 0 0 0 1 0 0 1
Preterm premature rupture of membranes; Osteogenesis imperfecta type 10 0 0 1 0 0 0 1
Primary ciliary dyskinesia 16 0 0 1 0 0 0 1
Primary ciliary dyskinesia 26 0 1 0 0 0 0 1
Primary ciliary dyskinesia 34 0 0 0 1 0 0 1
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 0 0 1 0 0 0 1
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection; Pseudo-TORCH syndrome 3 0 0 1 0 0 0 1
Primary intraosseous venous malformation 0 0 0 1 0 0 1
Primrose syndrome 0 0 0 1 0 0 1
Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; Mitochondrial DNA depletion syndrome 16 (hepatic type); Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) 0 0 0 0 1 0 1
Progressive familial heart block type IB 0 0 1 0 0 0 1
Progressive myoclonic epilepsy type 3 0 0 1 0 0 0 1
Progressive myositis ossificans 1 0 0 0 0 0 1
Progressive pseudorheumatoid dysplasia 0 0 0 0 1 0 1
Proliferative vitreoretinopathy 0 0 0 1 0 0 1
Properdin deficiency, X-linked 0 0 1 0 0 0 1
Proteasome-associated autoinflammatory syndrome 1 0 0 1 0 0 0 1
Pseudo-TORCH syndrome 1 0 0 0 1 0 0 1
Psoriasis 15, pustular, susceptibility to 0 0 0 1 0 0 1
Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 0 1 0 0 0 1
Ptosis, hereditary congenital, 1 0 0 0 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0 0 0 1 0 0 1
Pyruvate dehydrogenase E1-beta deficiency 0 0 1 0 0 0 1
Radio-Tartaglia syndrome 0 0 0 1 0 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 0 1 0 0 1
Recessive dystrophic epidermolysis bullosa; COPD, severe early onset 0 0 0 1 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 0 0 1 0 0 1
Renpenning syndrome 0 0 1 0 0 0 1
Reticulate acropigmentation of Kitamura; Alzheimer disease 18 0 0 0 1 0 0 1
Retinal dystrophy and obesity 0 0 1 0 0 0 1
Retinitis pigmentosa 14; Leber congenital amaurosis 15 0 1 0 0 0 0 1
Retinitis pigmentosa 18 0 0 0 1 0 0 1
Retinitis pigmentosa 44 0 0 1 0 0 0 1
Retinitis pigmentosa 58 0 0 1 0 0 0 1
Retinitis pigmentosa 60 0 0 0 0 1 0 1
Retinitis pigmentosa 62 0 0 1 0 0 0 1
Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3 0 0 0 1 0 0 1
Retinitis pigmentosa 9 0 0 1 0 0 0 1
Rh-null, regulator type; Overhydrated hereditary stomatocytosis 0 0 0 0 1 0 1
Rothmund-Thomson syndrome type 1 0 0 0 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 1 0 0 0 1
STT3A-congenital disorder of glycosylation; Congenital disorder of glycosylation, type Iw, autosomal dominant 0 0 0 1 0 0 1
STT3B-congenital disorder of glycosylation 0 0 0 1 0 0 1
Saccharopinuria; Hyperlysinemia 0 0 1 0 0 0 1
Schwannomatosis 1; Rhabdoid tumor predisposition syndrome 1; Intellectual disability, autosomal dominant 15 1 0 0 0 0 0 1
Sengers syndrome; Cataract 38 0 0 1 0 0 0 1
Senior-Loken syndrome 9 0 0 0 1 0 0 1
Severe combined immunodeficiency due to CTPS1 deficiency 0 0 1 0 0 0 1
Severe combined immunodeficiency due to LAT deficiency 0 0 0 1 0 0 1
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 0 0 1
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 0 0 0 1 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 0 0 1 0 0 1
Shashi-Pena syndrome 0 0 0 1 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 0 1 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 0 0 0 1
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 1 0 0 0 0 0 1
Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 0 0 0 0 1 0 1
Shwachman-Diamond syndrome 2 0 0 0 1 0 0 1
Silver-Russell syndrome 5 0 0 0 1 0 0 1
Sitosterolemia 0 0 1 0 0 0 1
Skraban-Deardorff syndrome 0 0 0 1 0 0 1
Sorsby fundus dystrophy 1 0 0 0 0 0 1
Spastic ataxia 3; Combined oxidative phosphorylation defect type 25 0 0 0 0 1 0 1
Spastic ataxia 4 0 0 1 0 0 0 1
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 0 0 0 1 0 1
Specific granule deficiency 2 0 0 0 1 0 0 1
Spermatogenic failure 11 0 0 0 1 0 0 1
Spermatogenic failure 39 0 0 0 1 0 0 1
Spermatogenic failure 7 0 0 0 1 0 0 1
Spinal muscular atrophy with congenital bone fractures 1; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 0 0 0 1 0 0 1
Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy, type IV 0 0 1 0 0 0 1
Spinocerebellar ataxia 45 0 0 0 1 0 0 1
Spinocerebellar ataxia type 10 0 0 0 1 0 0 1
Spinocerebellar ataxia type 23 0 0 0 1 0 0 1
Spinocerebellar ataxia type 35 0 0 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0 0 1 0 0 0 1
Split-foot malformation-mesoaxial polydactyly syndrome; Myopathy, centronuclear, 6, with fiber-type disproportion 0 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, Krakow type 0 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome; Warburg-cinotti syndrome 0 0 1 0 0 0 1
Sterol carrier protein 2 deficiency 0 0 0 1 0 0 1
Stuve-Wiedemann syndrome 0 0 1 0 0 0 1
Subcutaneous panniculitis-like T-cell lymphoma 0 0 1 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 4 0 0 1 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 5 0 0 1 0 0 0 1
Syndromic X-linked intellectual disability 34 0 0 0 1 0 0 1
Syndromic X-linked intellectual disability Raymond type 0 0 1 0 0 0 1
Synpolydactyly type 2 0 0 0 1 0 0 1
TCF12-related craniosynostosis; Hypogonadotropic hypogonadism 26 with or without anosmia 0 0 0 1 0 0 1
TMEM199-CDG 0 0 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS); Multiple sclerosis, susceptibility to, 5 0 0 1 0 0 0 1
Temtamy syndrome 0 0 1 0 0 0 1
Thrombocythemia 1; Primary myelofibrosis 1 0 0 0 0 0 1
Thyroid cancer, nonmedullary, 2 0 0 0 1 0 0 1
Thyrotoxic periodic paralysis, susceptibility to, 2 0 0 1 0 0 0 1
Transcobalamin II deficiency 0 0 1 0 0 0 1
Transposition of the great arteries, dextro-looped; Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 0 0 0 1
Trichothiodystrophy 3, photosensitive 0 0 1 0 0 0 1
Trichothiodystrophy 7, nonphotosensitive 0 0 0 1 0 0 1
Troyer syndrome 0 0 1 0 0 0 1
Type 2 diabetes mellitus 0 0 0 1 0 0 1
Type 2 diabetes mellitus; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 0 1 0 0 1
Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 0 0 1 0 0 1
Type A2 brachydactyly; Acromesomelic dysplasia 3; Brachydactyly type A1D 0 0 0 1 0 0 1
Ulnar-mammary syndrome 0 0 0 1 0 0 1
Uric acid concentration, serum, quantitative trait locus 1; Blood group, Junior system 0 0 1 0 0 0 1
Usher syndrome type 3B; Autosomal dominant Charcot-Marie-Tooth disease type 2W 0 0 0 0 1 0 1
Usher syndrome, type 4 0 0 0 1 0 0 1
Variegate porphyria 0 0 0 1 0 0 1
Vertebral anomalies and variable endocrine and T-cell dysfunction 0 0 0 1 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 3 0 0 0 1 0 0 1
Vibratory urticaria 0 0 0 1 0 0 1
Visceral myopathy 1; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 1 0 0 0 0 1
Vitamin b12 plasma level quantitative trait locus 1; Bombay phenotype 0 0 0 0 1 0 1
Warburg micro syndrome 3 0 0 0 0 1 0 1
Warsaw breakage syndrome 1 0 0 0 0 0 1
Weill-Marchesani 4 syndrome, recessive 0 0 0 0 1 0 1
Wieacker-Wolff syndrome 1 0 0 0 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 0 1 0 0 1
X-linked chondrodysplasia punctata 1 0 0 1 0 0 0 1
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 0 0 0 1 0 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia; Congenital disorder of glycosylation, type ICC 0 0 0 1 0 0 1
X-linked intellectual disability, Stocco dos Santos type 0 0 0 1 0 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 0 0 0 1 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency; X-linked lymphoproliferative disease due to SH2D1A deficiency 0 0 1 0 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 1 0 0 0 1
X-linked progressive cerebellar ataxia 0 0 0 1 0 0 1
X-linked spasticity-intellectual disability-epilepsy syndrome 1 0 0 0 0 0 1
Xeroderma pigmentosum variant type 0 0 0 1 0 0 1
Xeroderma pigmentosum, group E 1 0 0 0 0 0 1
Zimmermann-laband syndrome 3 0 0 0 0 1 0 1
not specified; Dilated Cardiomyopathy, Dominant 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.