ClinVar Miner

Variants from Neuberg Centre For Genomic Medicine, NCGM

Location: India  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 total
1122 1690 4310 3 1 7116

Gene and significance breakdown #

Total genes and gene combinations: 2330
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP7B 17 17 19 0 0 53
COL7A1 11 17 17 0 0 45
BRCA2 20 4 18 0 0 42
CFTR 16 12 12 0 0 40
RYR1 6 4 26 0 0 36
BRCA1 18 4 11 0 0 33
DMD 15 11 7 0 0 33
ATM 2 10 21 0 0 32
DYSF 5 16 11 0 0 31
LOC102724058, SCN1A 5 6 20 0 0 31
NF1 19 11 1 0 0 31
GALNS 11 7 11 0 0 29
SCN2A 2 4 23 0 0 29
PKHD1 4 4 20 0 0 28
CAPN3 7 10 10 0 0 27
SPG11 7 9 12 0 0 27
PKD1 3 7 16 0 0 26
SCN1A 7 6 13 0 0 26
LAMA2 4 10 11 0 0 25
ATM, C11orf65 4 5 14 0 0 23
MECP2 13 2 8 0 0 23
CACNA1A 1 0 21 0 0 22
AGL 4 9 7 0 0 20
ABCB11 2 7 10 0 0 19
ANK1 1 10 8 0 0 19
ARSA 8 5 6 0 0 19
MLH1 10 2 7 0 0 19
MSH2 6 5 8 0 0 19
MSH6 1 0 18 0 0 19
NPC1 3 10 6 0 0 19
SETX 0 6 13 0 0 19
SPTB 1 7 11 0 0 19
SYNE1 0 6 13 0 0 19
DEPDC5 3 2 13 0 0 18
TSC2 6 8 4 0 0 18
CLCN1 5 6 6 0 0 17
COL4A5 4 9 4 0 0 17
F8 2 8 7 0 0 17
FANCA 4 6 7 0 0 17
COL6A2 1 6 9 0 0 16
CREBBP 0 5 11 0 0 16
KCNQ2 6 3 7 0 0 16
NEB 1 7 8 0 0 16
NPHS1 3 5 8 0 0 16
PLA2G6 3 6 8 0 0 16
FBN1 4 6 5 0 0 15
KCNT1 1 4 10 0 0 15
KMT2D 2 3 10 0 0 15
LRBA 1 6 8 0 0 15
NBEA 0 0 15 0 0 15
TTN 2 2 10 1 0 15
GCDH 7 1 6 0 0 14
HBB, LOC106099062, LOC107133510 14 0 0 0 0 14
NSD1 2 7 5 0 0 14
PTPN11 13 0 1 0 0 14
TCF20 0 4 10 0 0 14
APC 3 2 8 0 0 13
COL4A3, MFF-DT 2 1 10 0 0 13
DYNC1H1 0 2 11 0 0 13
GALC 4 7 2 0 0 13
GRIN2B 2 0 11 0 0 13
MTHFR 1 4 8 0 0 13
PALB2 1 4 8 0 0 13
PANK2 0 5 8 0 0 13
PLEC 0 2 11 0 0 13
PYGL 2 5 6 0 0 13
SMPD1 5 5 3 0 0 13
ABCB4 2 5 5 0 0 12
ATP6V0A4 0 2 10 0 0 12
BRIP1 1 0 11 0 0 12
DNAH5 2 2 8 0 0 12
GLB1 5 3 5 0 0 12
GNE 4 3 5 0 0 12
HYDIN 0 3 9 0 0 12
KIF1A 2 0 10 0 0 12
LDLR 6 3 3 0 0 12
MFN2 3 3 6 0 0 12
RHOBTB2 1 0 11 0 0 12
SACS 1 4 7 0 0 12
SCN8A 0 1 11 0 0 12
SETD1A 0 0 12 0 0 12
SPTBN2 0 1 11 0 0 12
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 5 5 4 1 0 12
USH2A 2 5 5 0 0 12
VPS13A 2 8 2 0 0 12
VWF 1 2 9 0 0 12
ABCD1 4 5 2 0 0 11
BTD 5 4 2 0 0 11
CEP290 5 2 4 0 0 11
COL17A1 0 8 3 0 0 11
COL1A2 4 4 3 0 0 11
DOCK8 1 4 6 0 0 11
HECW2 0 0 11 0 0 11
HEXA 4 1 6 0 0 11
IDUA 2 6 3 0 0 11
KMT2E 0 1 10 0 0 11
LAMB3 4 4 3 0 0 11
RTEL1, RTEL1-TNFRSF6B 1 0 10 0 0 11
SH3TC2 4 5 2 0 0 11
STXBP1 3 3 5 0 0 11
TGM1 4 4 3 0 0 11
ABCA4 7 2 1 0 0 10
ADGRV1 1 0 9 0 0 10
AGXT 7 3 0 0 0 10
ASH1L 0 0 10 0 0 10
CDKL5 1 2 7 0 0 10
COL6A3 0 1 9 0 0 10
JAG1 1 6 3 0 0 10
LZTR1 2 4 4 0 0 10
MAPK8IP3 0 0 10 0 0 10
MED13L 0 0 10 0 0 10
MYBPC3 0 4 6 0 0 10
MYO7A 3 3 4 0 0 10
PCDH19 2 1 7 0 0 10
POLE 0 1 9 0 0 10
SCN5A 0 0 10 0 0 10
SGSH 2 4 4 0 0 10
SZT2 0 4 6 0 0 10
TP53 8 1 1 0 0 10
ZEB2 0 1 9 0 0 10
ABCC2 1 5 3 0 0 9
AHDC1 0 1 8 0 0 9
ALMS1 0 6 3 0 0 9
ASPM 0 7 2 0 0 9
ATP1A3 2 3 4 0 0 9
ATP8B1 2 1 6 0 0 9
CACNA1E 0 0 9 0 0 9
CACNA1G 0 0 9 0 0 9
CENPF 0 7 2 0 0 9
CHD2 0 1 8 0 0 9
CHEK2 0 0 9 0 0 9
CIC 0 0 9 0 0 9
DUOX2 3 2 4 0 0 9
FAH 3 3 3 0 0 9
FOXG1 1 6 2 0 0 9
G6PD 8 0 1 0 0 9
GAA 6 3 0 0 0 9
GRIN2D 0 0 9 0 0 9
KANSL1 1 2 6 0 0 9
MFSD8 2 5 2 0 0 9
MYO15A 0 2 7 0 0 9
PAH 6 3 0 0 0 9
PIEZO2 1 2 6 0 0 9
PMS2 0 2 7 0 0 9
SLC12A3 3 5 1 0 0 9
SPTBN1 0 0 9 0 0 9
SYNE2 0 0 9 0 0 9
TNRC6B 0 1 8 0 0 9
TRRAP 0 0 9 0 0 9
ZNF292 0 0 9 0 0 9
ABCC8 2 1 5 0 0 8
ACE 0 5 3 0 0 8
ADA2 3 2 3 0 0 8
ADGRG1 2 3 3 0 0 8
AGRN 0 0 8 0 0 8
AIRE 1 2 5 0 0 8
ANK3 0 0 8 0 0 8
CBS 1 3 4 0 0 8
CHD7 2 0 6 0 0 8
COL12A1 0 0 8 0 0 8
COL1A1 2 3 3 0 0 8
DYNC2H1 0 4 4 0 0 8
EIF2B5 2 1 5 0 0 8
FOXP1 0 1 7 0 0 8
GRIN2A 0 0 8 0 0 8
HIVEP2 0 0 8 0 0 8
HSD17B4 0 3 5 0 0 8
ITGA2B 2 2 4 0 0 8
KCNN2 0 0 8 0 0 8
KDM6B 0 0 8 0 0 8
LAMB2 0 5 3 0 0 8
LRP2 0 0 8 0 0 8
MAP1B 0 0 8 0 0 8
MYO5B 0 1 7 0 0 8
NALCN 1 2 5 0 0 8
NEXMIF 1 0 7 0 0 8
OBSL1 2 1 5 0 0 8
OCRL 3 4 1 0 0 8
P3H1 2 5 1 0 0 8
PEX6 0 3 5 0 0 8
PKLR 3 3 2 0 0 8
RAD51D, RAD51L3-RFFL 3 0 5 0 0 8
RNF213 0 0 7 1 0 8
SCN3A 0 1 7 0 0 8
SON 0 2 6 0 0 8
SPTA1 1 0 7 0 0 8
TYR 4 1 4 0 0 8
ARFGEF1 0 1 6 0 0 7
CACNA1C 0 0 7 0 0 7
CASK 0 1 6 0 0 7
CD36 0 6 1 0 0 7
CLCN7 0 3 4 0 0 7
CTNS 3 2 2 0 0 7
CUX1 0 1 6 0 0 7
DYRK1A 3 1 3 0 0 7
FANCA, ZNF276 3 1 3 0 0 7
FBN2 0 0 7 0 0 7
GNPTAB 3 0 4 0 0 7
HEXB 2 1 4 0 0 7
HMBS 2 1 4 0 0 7
ITGB2 0 6 1 0 0 7
KCNB1 1 0 6 0 0 7
KDM5C 0 1 6 0 0 7
KMT2C 0 1 6 0 0 7
LAMA3 0 6 1 0 0 7
MACF1 0 0 7 0 0 7
MBD5 0 1 6 0 0 7
MOCS1 0 0 7 0 0 7
MPV17 2 4 1 0 0 7
MYH7 0 2 5 0 0 7
NBAS 0 2 5 0 0 7
OTC 0 0 7 0 0 7
PAX2 2 3 2 0 0 7
PCCA 1 1 5 0 0 7
PCNT 0 3 4 0 0 7
PHKG2 2 1 4 0 0 7
PIEZO1 1 1 5 0 0 7
PLCE1 0 3 4 0 0 7
PRF1 3 1 3 0 0 7
RAD54L 0 1 6 0 0 7
SGCA 2 2 3 0 0 7
SGCB 2 3 2 0 0 7
SLC2A1 0 5 2 0 0 7
SLC37A4 3 2 2 0 0 7
TANC2 0 0 7 0 0 7
TCF3 0 0 7 0 0 7
TERT 1 0 6 0 0 7
TH 0 3 4 0 0 7
TJP2 0 4 3 0 0 7
TPP1 2 2 3 0 0 7
USP53 0 4 3 0 0 7
ARX 0 2 4 0 0 6
ATP7A 0 0 6 0 0 6
CLCNKB, LOC106501713 1 3 2 0 0 6
COL2A1 1 1 4 0 0 6
COL4A4 0 3 3 0 0 6
COL6A1 1 2 3 0 0 6
CPLANE1 2 2 2 0 0 6
CUL7 0 3 3 0 0 6
DNAH11 0 2 4 0 0 6
ERCC6 4 1 1 0 0 6
ETHE1 2 1 3 0 0 6
F11 1 3 2 0 0 6
F5 0 2 4 0 0 6
FANCI 2 1 3 0 0 6
FLNB 0 1 5 0 0 6
FLNC 1 0 5 0 0 6
GALT 3 1 2 0 0 6
GBA1, LOC106627981 4 1 1 0 0 6
GLDC 0 3 3 0 0 6
GPI 1 3 2 0 0 6
HSPG2 0 1 5 0 0 6
IL12RB1 2 1 3 0 0 6
INSL6, JAK2 0 0 6 0 0 6
ITGB3 4 1 1 0 0 6
KCNMA1 0 0 6 0 0 6
KCNQ1 3 0 3 0 0 6
LMNA 4 1 1 0 0 6
MED12 1 1 4 0 0 6
MEFV 0 0 6 0 0 6
MEGF8 0 0 6 0 0 6
MMACHC 3 1 2 0 0 6
MME 0 2 4 0 0 6
MMUT 1 2 3 0 0 6
MYH9 1 0 5 0 0 6
NEB, RIF1 0 3 3 0 0 6
OCA2 2 2 2 0 0 6
PACS2 0 0 6 0 0 6
PCCB 2 0 4 0 0 6
PHEX 0 3 3 0 0 6
POC1A 1 2 3 0 0 6
POLR1C 1 1 4 0 0 6
POLR3A 1 1 4 0 0 6
POMGNT1, TSPAN1 0 1 5 0 0 6
RAB27A 2 1 3 0 0 6
RPE65 2 2 2 0 0 6
SETBP1 0 1 5 0 0 6
SGCG 0 2 4 0 0 6
SIK1 0 0 6 0 0 6
SLC34A1 0 2 4 0 0 6
SOS1 4 0 2 0 0 6
SPG7 2 2 2 0 0 6
SURF1 5 0 1 0 0 6
SYNGAP1 0 1 5 0 0 6
TRIT1 0 4 2 0 0 6
TSC1 1 4 1 0 0 6
USP9X 0 1 5 0 0 6
ABCA7 0 0 5 0 0 5
ACADM 3 0 2 0 0 5
ACAN 0 0 5 0 0 5
ACAT1 2 1 2 0 0 5
ALDH5A1 0 3 2 0 0 5
ANK2 0 0 5 0 0 5
ANKRD11 2 0 3 0 0 5
AP4B1 0 3 2 0 0 5
AR 1 1 3 0 0 5
ASAH1 3 0 2 0 0 5
ATP13A2 0 1 4 0 0 5
ATP6V1B1 0 3 2 0 0 5
BARD1 0 1 4 0 0 5
BBS2 1 1 3 0 0 5
BCKDHA 3 2 0 0 0 5
BCKDHB 0 2 3 0 0 5
BIVM-ERCC5, ERCC5 1 2 2 0 0 5
BPTF 0 0 5 0 0 5
BRCA1, LOC126862571 4 1 0 0 0 5
BTK 1 2 2 0 0 5
CC2D2A 1 0 4 0 0 5
CCDC88C 0 1 4 0 0 5
CCDST, FLG 2 3 0 0 0 5
CCN6 2 3 0 0 0 5
CDH1 0 0 5 0 0 5
CDK13 0 1 4 0 0 5
CFH 0 1 4 0 0 5
CLCN2 0 1 4 0 0 5
CLN6 1 2 2 0 0 5
COL4A1 2 1 2 0 0 5
CSF1R 0 0 5 0 0 5
CUX2 0 0 5 0 0 5
CYP27B1 1 4 0 0 0 5
DDX3X 1 3 1 0 0 5
DES 2 1 2 0 0 5
DGKE 0 1 4 0 0 5
DOCK7 0 2 3 0 0 5
EARS2 2 1 2 0 0 5
EIF2S3 0 0 5 0 0 5
EPCAM 0 2 3 0 0 5
EXT1 2 2 1 0 0 5
FGFR2 5 0 0 0 0 5
FGFR3 5 0 0 0 0 5
FLNA 0 1 4 0 0 5
FN1 0 0 5 0 0 5
GABBR2 0 0 5 0 0 5
GJB1 2 0 3 0 0 5
GJB2 3 2 0 0 0 5
GNPTG 1 1 3 0 0 5
HCN1 0 0 5 0 0 5
HERC2 0 0 5 0 0 5
HGD 2 1 2 0 0 5
HNF1B 1 0 4 0 0 5
IBA57 0 1 4 0 0 5
IDS 2 0 3 0 0 5
IDS, LOC106050102 1 3 1 0 0 5
IDUA, SLC26A1 1 1 3 0 0 5
IGHMBP2 1 2 2 0 0 5
IRF2BPL 0 1 4 0 0 5
ITPR1 1 0 4 0 0 5
KAT6A 0 0 5 0 0 5
KAT8 0 0 5 0 0 5
KIF5A 0 1 4 0 0 5
KMT2B 0 0 5 0 0 5
LAMA4 0 0 5 0 0 5
LIPA 2 1 2 0 0 5
LMBRD2 0 0 5 0 0 5
LRRK2 0 0 5 0 0 5
MED13 0 0 5 0 0 5
MLH3 0 1 4 0 0 5
MORC2 1 0 4 0 0 5
MPL 1 2 2 0 0 5
MYH14 0 0 5 0 0 5
MYH6 0 0 5 0 0 5
NDUFS1 0 0 5 0 0 5
NDUFV1 0 3 2 0 0 5
NIPBL 0 0 5 0 0 5
NPHP4 0 2 3 0 0 5
NPHS2 2 3 0 0 0 5
NTRK1 1 3 1 0 0 5
OPA1 2 1 2 0 0 5
OTOG 0 1 4 0 0 5
PCLO 0 0 5 0 0 5
PDHA1 1 1 3 0 0 5
PHKA2 0 3 2 0 0 5
PHKB 1 3 1 0 0 5
PIK3R1 0 0 5 0 0 5
PINK1 0 4 1 0 0 5
PKP2 1 2 2 0 0 5
PLEKHG5 0 1 4 0 0 5
PNPLA1 0 4 1 0 0 5
PRSS1, TRB 3 0 2 0 0 5
RAF1 2 0 3 0 0 5
RERE 0 0 5 0 0 5
SEC23B 0 2 3 0 0 5
SELENON 2 2 1 0 0 5
SETD1B 0 1 4 0 0 5
SETD5 0 0 5 0 0 5
SLC26A4 2 2 1 0 0 5
SLC4A1 1 0 4 0 0 5
SLC7A7 3 1 1 0 0 5
SPTAN1 0 1 4 0 0 5
STAG2 0 1 4 0 0 5
STAT3 1 3 1 0 0 5
TBC1D24 1 0 4 0 0 5
TCIRG1 1 2 2 0 0 5
TET3 0 0 5 0 0 5
TK2 1 2 2 0 0 5
TNR 0 1 4 0 0 5
TOR1A 1 3 1 0 0 5
TRAPPC12 0 2 3 0 0 5
TRIO 0 0 5 0 0 5
TRPC6 0 2 3 0 0 5
UMOD 0 0 5 0 0 5
VPS13B 1 2 2 0 0 5
VPS13C 0 1 4 0 0 5
WAS 3 1 1 0 0 5
WASHC5 0 0 5 0 0 5
WFS1 1 0 4 0 0 5
WT1 2 1 2 0 0 5
AARS1 0 0 4 0 0 4
ABCA12 1 2 1 0 0 4
ABCC6 0 3 1 0 0 4
ABCC9, KCNJ8 1 0 3 0 0 4
ACOX1 0 0 4 0 0 4
ACP5 0 1 3 0 0 4
ADCY5 0 0 4 0 0 4
AGPAT2 1 3 0 0 0 4
AHI1 0 0 4 0 0 4
AKR1D1 0 3 1 0 0 4
ALDH7A1 1 2 1 0 0 4
ALG13 1 0 3 0 0 4
AP5Z1 0 1 3 0 0 4
ASPA, SPATA22 3 1 0 0 0 4
ASS1 2 1 1 0 0 4
ATP1A2 0 0 4 0 0 4
BAG3 2 0 2 0 0 4
BLM 2 1 1 0 0 4
C19orf12 0 1 3 0 0 4
CACNA1D 1 0 3 0 0 4
CAMK2B 0 1 3 0 0 4
CARD11 0 0 4 0 0 4
CASR 0 2 2 0 0 4
CDC42BPB 0 0 4 0 0 4
CDH15 0 0 4 0 0 4
CHAMP1 0 0 4 0 0 4
CLCN4 0 0 4 0 0 4
CLCN5 0 4 0 0 0 4
CLPB 0 0 4 0 0 4
CNGA3 2 2 0 0 0 4
CNOT1 0 0 4 0 0 4
CNOT3 0 0 4 0 0 4
COMP 1 2 1 0 0 4
CPT1A 0 0 4 0 0 4
CTC1 0 2 2 0 0 4
CYP1B1 1 1 2 0 0 4
CYP27A1 4 0 0 0 0 4
DCX 1 0 3 0 0 4
DEAF1 0 0 4 0 0 4
DHX30 0 0 4 0 0 4
DNM1 0 0 4 0 0 4
DNMT1 0 0 4 0 0 4
DNMT3A 1 0 3 0 0 4
DOK7 1 2 1 0 0 4
DSP 1 0 3 0 0 4
EHMT1 0 1 3 0 0 4
EPG5 0 1 3 0 0 4
ETFDH 2 0 2 0 0 4
EVC2 2 2 0 0 0 4
F7 0 1 3 0 0 4
FA2H 0 2 2 0 0 4
FANCG 0 4 0 0 0 4
FANCL 3 1 0 0 0 4
FIG4 0 1 3 0 0 4
FKTN 1 1 2 0 0 4
FREM2 0 1 3 0 0 4
FUS 2 0 2 0 0 4
GBE1 0 0 4 0 0 4
GDAP1 1 2 1 0 0 4
GFAP 2 1 1 0 0 4
GH-LCR, SCN4A 1 0 3 0 0 4
GJC2 0 2 2 0 0 4
GLI3 0 1 3 0 0 4
GLRA1 1 0 3 0 0 4
GLUD1 2 0 2 0 0 4
GRHPR 2 0 2 0 0 4
GRIA2 0 1 3 0 0 4
GRIN1 1 0 3 0 0 4
GYS2 1 2 1 0 0 4
HBB, LOC107133510, LOC110006319 1 2 1 0 0 4
HDAC4 0 0 4 0 0 4
HFE 2 1 1 0 0 4
HPS1 0 0 4 0 0 4
HSALR1, PIEZO1 0 1 3 0 0 4
INF2 1 0 3 0 0 4
IVD 1 2 1 0 0 4
KCNJ1 2 0 2 0 0 4
KCNJ10 0 1 3 0 0 4
KCNQ5 0 0 4 0 0 4
KDM6A 0 0 4 0 0 4
KIAA0586 0 2 2 0 0 4
KIF5C 1 0 3 0 0 4
KRT14 1 3 1 0 0 4
KRT6A 0 2 2 0 0 4
LOC129992585, SGCB 2 2 0 0 0 4
LPL 1 2 1 0 0 4
LRSAM1 1 1 2 0 0 4
LYST 0 2 2 0 0 4
MAN2B1 0 1 3 0 0 4
MILR1, POLG2 0 1 3 0 0 4
MIPEP 0 1 3 0 0 4
MRE11 1 0 3 0 0 4
MVP-DT, PRRT2 3 0 1 0 0 4
NAGLU 1 1 2 0 0 4
NEK1 0 2 2 0 0 4
NFKB1 0 1 3 0 0 4
NPHP3, NPHP3-ACAD11 1 1 2 0 0 4
NUP93 0 0 4 0 0 4
OPHN1 0 1 3 0 0 4
PEPD 1 3 0 0 0 4
PGAP2 0 1 3 0 0 4
PIDD1 0 1 3 0 0 4
PIGG 1 1 2 0 0 4
PIK3CD 0 1 3 0 0 4
PLCB1 0 0 4 0 0 4
PLOD1 0 1 3 0 0 4
PMP22 1 1 2 0 0 4
PMPCB 0 1 3 0 0 4
PNKP 0 2 2 0 0 4
POGZ 1 0 3 0 0 4
POLG 1 1 2 0 0 4
POLRMT 0 2 2 0 0 4
PTEN 3 0 1 0 0 4
RAD51C 0 0 4 0 0 4
RARS2 0 1 3 0 0 4
RET 1 1 2 0 0 4
RPS19 1 1 2 0 0 4
SALL1 0 0 4 0 0 4
SAMD9L 0 0 4 0 0 4
SBDS 2 1 1 0 0 4
SETD2 0 0 4 0 0 4
SLC1A2 0 0 4 0 0 4
SLC22A5 2 1 1 0 0 4
SMC1A 0 0 4 0 0 4
SNHG14, UBE3A 1 2 1 0 0 4
STAR 2 1 1 0 0 4
STAT1 2 1 1 0 0 4
STK11 0 1 3 0 0 4
TAF1 0 0 4 0 0 4
TANGO2 1 2 1 0 0 4
TBCK 1 2 1 0 0 4
TENM4 0 0 4 0 0 4
TOGARAM1 0 2 2 0 0 4
TOP2B 1 0 3 0 0 4
TRIP12 0 0 4 0 0 4
TRPM6 0 1 3 0 0 4
TRPV4 2 0 2 0 0 4
UNC13D 1 1 2 0 0 4
UNC80 0 1 3 0 0 4
ZC4H2 0 0 4 0 0 4
ZFYVE26 1 2 1 0 0 4
ZNF142 0 1 3 0 0 4
ZNF462 0 1 3 0 0 4
AAAS 2 0 1 0 0 3
ABCD4 0 1 2 0 0 3
ABCG8 1 1 1 0 0 3
ACOX2 0 1 2 0 0 3
ADA 1 1 1 0 0 3
ADAMTS10 0 0 3 0 0 3
ADAMTS13 0 1 2 0 0 3
ADNP 0 1 2 0 0 3
ADSL 2 0 1 0 0 3
AFF3 0 0 3 0 0 3
ALDH3A2 1 2 0 0 0 3
ALG3 0 2 1 0 0 3
ALPK3 0 3 0 0 0 3
ALS2 0 1 2 0 0 3
ANLN 0 0 3 0 0 3
ANO5 0 3 0 0 0 3
APC2 0 0 3 0 0 3
APTX 2 1 0 0 0 3
ARFGEF1-DT, CPA6 0 0 3 0 0 3
ARHGAP31 0 0 3 0 0 3
ARID1B 0 2 1 0 0 3
ARSB 1 0 2 0 0 3
ASIC4, SPEG 0 0 3 0 0 3
ASXL3 0 1 2 0 0 3
ATP1A1 0 0 3 0 0 3
ATP6AP1 0 0 3 0 0 3
ATP6V1A 0 0 3 0 0 3
BCHE 2 1 0 0 0 3
BCORL1 0 0 3 0 0 3
BICRA 0 0 3 0 0 3
BOLA3 1 0 2 0 0 3
BRAT1 0 1 2 0 0 3
BSCL2, HNRNPUL2-BSCL2 0 2 1 0 0 3
C2CD3 0 1 2 0 0 3
CACNA1I 0 0 3 0 0 3
CAMTA1 0 0 3 0 0 3
CARMIL2 1 1 1 0 0 3
CBL 0 0 3 0 0 3
CD19 0 0 3 0 0 3
CDAN1 1 1 1 0 0 3
CDH23 0 0 3 0 0 3
CEP85L 0 0 3 0 0 3
CFHR5 0 0 3 0 0 3
CFTR, LOC111674472 2 1 0 0 0 3
CFTR, LOC111674475 1 1 1 0 0 3
CHAT 0 0 3 0 0 3
CHD1 0 0 3 0 0 3
CHD3 0 0 3 0 0 3
CHD5 0 0 3 0 0 3
CHD8 0 0 3 0 0 3
CHKB, CHKB-CPT1B 0 1 2 0 0 3
CHRNA1 0 0 3 0 0 3
CHRNB1 0 1 2 0 0 3
CHST3 0 1 2 0 0 3
CHST6 0 1 2 0 0 3
CIT 0 1 2 0 0 3
CLDN19 1 1 1 0 0 3
CLN5 0 1 2 0 0 3
CNTNAP1 0 1 2 0 0 3
CNTNAP2 0 1 2 0 0 3
COL11A1 0 0 3 0 0 3
COL5A1 0 1 2 0 0 3
COQ8A 1 1 1 0 0 3
CTSK 2 0 1 0 0 3
CYB5R3 1 0 2 0 0 3
CYP2U1 0 1 2 0 0 3
CYP4F22 0 0 3 0 0 3
DCHS1 0 0 3 0 0 3
DCTN1 0 0 3 0 0 3
DNAJC21 0 3 0 0 0 3
DNM2 1 0 2 0 0 3
DRC1 0 1 2 0 0 3
DYM 0 3 0 0 0 3
EBP 0 0 3 0 0 3
EIF2B3 0 2 1 0 0 3
EIF4G1 0 0 3 0 0 3
EMC1 0 1 2 0 0 3
EP300 0 1 2 0 0 3
EPB41 0 1 2 0 0 3
EPM2A 0 0 3 0 0 3
FANCM 0 0 3 0 0 3
FERMT1 1 1 1 0 0 3
FGF12 0 1 2 0 0 3
FKBP10 0 3 0 0 0 3
FOLR1 0 0 2 0 1 3
FOXC1 0 1 2 0 0 3
GABRA5 0 0 3 0 0 3
GALNS, LOC126862447 0 2 1 0 0 3
GALNS, LOC130059762, TRAPPC2L 1 1 1 0 0 3
GATA3 0 0 3 0 0 3
GATAD2B 0 1 2 0 0 3
GBA2 0 0 3 0 0 3
GCH1 0 0 3 0 0 3
GEMIN5 0 1 2 0 0 3
GNAS 0 2 1 0 0 3
GPD1 0 1 2 0 0 3
GPIHBP1 1 1 1 0 0 3
GREB1L 0 0 3 0 0 3
GRIA4 0 0 3 0 0 3
GRIA4, LOC126861324 0 0 3 0 0 3
GUCY2D 0 2 1 0 0 3
HACE1 1 0 2 0 0 3
HCN4 0 0 3 0 0 3
HMGCS2 0 0 3 0 0 3
HOGA1 1 1 1 0 0 3
HSD17B10 0 0 3 0 0 3
HSD3B7 0 2 1 0 0 3
INTS1 0 0 3 0 0 3
IQCB1 0 0 3 0 0 3
IQSEC2 1 1 1 0 0 3
JAK3 0 1 2 0 0 3
KBTBD13 0 0 3 0 0 3
KCNA2 1 0 2 0 0 3
KCNA5 0 0 3 0 0 3
KCNT2 1 0 2 0 0 3
KDM3B 0 0 3 0 0 3
KIF22 1 0 2 0 0 3
KLHL40 0 3 0 0 0 3
KMT2A 0 1 2 0 0 3
KRT1 0 2 1 0 0 3
L1CAM 1 0 2 0 0 3
L2HGDH 1 0 2 0 0 3
LAMA5 0 0 3 0 0 3
LAMB1 0 1 2 0 0 3
LAMC2 0 2 1 0 0 3
LMNB1 0 0 3 0 0 3
LOC126861242, NDUFV1 2 1 0 0 0 3
LPAR6, RB1 1 2 0 0 0 3
LRP5 0 1 2 0 0 3
LTBP2 0 1 2 0 0 3
MAPT 0 0 3 0 0 3
MARS1 0 0 3 0 0 3
MAST3 0 0 3 0 0 3
MPDZ 0 1 2 0 0 3
MPZ 0 0 3 0 0 3
MUTYH 2 0 1 0 0 3
MYH2, MYHAS 0 0 3 0 0 3
MYLK2 0 0 3 0 0 3
MYO3A 0 3 0 0 0 3
MYOC 1 0 2 0 0 3
MYT1L 0 1 2 0 0 3
NACC1 0 0 3 0 0 3
NAXD 1 1 1 0 0 3
NDUFAF6 1 2 0 0 0 3
NFE2L2 0 0 3 0 0 3
NFIX 1 2 0 0 0 3
NLRC4 0 0 3 0 0 3
NLRP12 0 0 3 0 0 3
NOD2 1 0 2 0 0 3
NOTCH2 0 0 3 0 0 3
NOTCH3 2 0 1 0 0 3
NPC2 0 3 0 0 0 3
NPRL2 0 0 3 0 0 3
NR0B1 0 1 2 0 0 3
NRIP1 0 0 3 0 0 3
NSUN2 0 2 1 0 0 3
OCLN 0 1 2 0 0 3
OTOF 0 2 1 0 0 3
OTUD6B 1 0 2 0 0 3
OXCT1 0 1 2 0 0 3
PARN 0 0 3 0 0 3
PEX19 0 0 3 0 0 3
PGAP1 1 1 1 0 0 3
PGM3 0 1 2 0 0 3
PHACTR1 0 0 3 0 0 3
PHEX, PTCHD1 0 2 1 0 0 3
PIKFYVE 0 1 2 0 0 3
PKD2 2 0 1 0 0 3
PLCG2 0 0 3 0 0 3
PNPO 2 0 1 0 0 3
PNPT1 0 0 3 0 0 3
POLD1 0 0 3 0 0 3
POLR2A 0 0 3 0 0 3
POLR2F, SOX10 1 0 2 0 0 3
POLR3B 0 1 2 0 0 3
POR 0 0 3 0 0 3
PPP2R5D 0 0 3 0 0 3
PSAP 0 2 1 0 0 3
RAB3GAP1 0 3 0 0 0 3
RAB3GAP2 0 0 3 0 0 3
RBL2 0 2 1 0 0 3
RECQL4 0 1 2 0 0 3
RGR 0 0 3 0 0 3
RNASEH2B 1 1 1 0 0 3
ROBO3 1 2 0 0 0 3
RORA 0 0 3 0 0 3
RP1 0 1 2 0 0 3
RYR2 0 0 3 0 0 3
SCN1B 1 0 2 0 0 3
SCUBE3 0 1 2 0 0 3
SKIC3 0 3 0 0 0 3
SLC17A5 1 1 1 0 0 3
SLC25A12 0 0 3 0 0 3
SLC25A22 0 0 3 0 0 3
SLC26A3 0 2 1 0 0 3
SLC34A3 0 1 2 0 0 3
SLC38A8 0 3 0 0 0 3
SLC3A1 0 1 2 0 0 3
SLC4A11 1 1 1 0 0 3
SLC52A2 0 1 2 0 0 3
SLC6A1 0 0 3 0 0 3
SLC7A9 1 0 2 0 0 3
SLCO2A1 0 1 2 0 0 3
SMARCA2 0 0 3 0 0 3
SNX14 0 2 1 0 0 3
SPAST 2 0 1 0 0 3
SPEN 0 0 3 0 0 3
SPTBN4 0 1 2 0 0 3
SRCAP 0 0 3 0 0 3
SRD5A2 0 0 3 0 0 3
STAT5B 0 0 3 0 0 3
STUB1 0 0 3 0 0 3
STXBP2 1 1 1 0 0 3
SUMF1 1 0 2 0 0 3
SUOX 0 0 3 0 0 3
TBCD 1 1 1 0 0 3
TBX6 0 0 3 0 0 3
TBXAS1 1 0 2 0 0 3
TCAP 1 1 1 0 0 3
TGM6 0 0 3 0 0 3
TLR3 0 0 3 0 0 3
TMEM106B 0 0 3 0 0 3
TMEM43 1 0 2 0 0 3
TNC 0 0 3 0 0 3
TNNI3 2 0 1 0 0 3
TNNT2 2 0 1 0 0 3
TONSL 0 1 2 0 0 3
TRAF7 0 0 3 0 0 3
TRAPPC9 0 0 3 0 0 3
TRPM4 0 0 3 0 0 3
TRPS1 0 1 2 0 0 3
TTC19 0 0 3 0 0 3
TTC8 1 2 0 0 0 3
VLDLR 1 0 2 0 0 3
VPS13D 0 0 3 0 0 3
WDR35 0 0 3 0 0 3
WDR62 0 3 0 0 0 3
WDR73 0 1 2 0 0 3
XDH 1 2 0 0 0 3
XIAP 0 2 1 0 0 3
YARS1 0 0 3 0 0 3
ZMYM2 0 1 2 0 0 3
ZNF423 0 0 3 0 0 3
AARS2 0 1 1 0 0 2
ABCA12, SNHG31 1 0 1 0 0 2
ABCA2 0 0 2 0 0 2
ABCA3 0 2 0 0 0 2
ABHD14A-ACY1, ACY1 0 0 2 0 0 2
ACADS 1 0 1 0 0 2
ACD 0 1 1 0 0 2
ACO2 1 0 1 0 0 2
ACTA1 0 0 2 0 0 2
ACTL6B 0 1 1 0 0 2
ADCY10 0 0 2 0 0 2
ADCY10, DCAF6 0 0 2 0 0 2
AFF4 0 0 2 0 0 2
AGTPBP1 0 0 2 0 0 2
AIMP1 0 1 1 0 0 2
ALAS2, LOC108663984 0 1 1 0 0 2
ALDOB 1 0 1 0 0 2
ALKBH8 0 0 2 0 0 2
ALPL 2 0 0 0 0 2
AMER1 0 0 2 0 0 2
AMPD1 0 0 2 0 0 2
ANKRD26 0 0 2 0 0 2
ANO3 0 0 2 0 0 2
ANTXR2 1 1 0 0 0 2
AOPEP, FANCC 2 0 0 0 0 2
AP4B1, PTPN22 0 0 2 0 0 2
APOB 0 0 2 0 0 2
ARG1, MED23 0 0 2 0 0 2
ARID1A 0 0 2 0 0 2
ARID2 0 0 2 0 0 2
ARSB, LOC129994126 1 1 0 0 0 2
ASCC1 1 1 0 0 0 2
ASL 1 1 0 0 0 2
ATP11C 0 0 2 0 0 2
ATP6V0A1 0 0 2 0 0 2
ATP8A2 0 1 1 0 0 2
ATR 0 0 2 0 0 2
ATRIP, ATRIP-TREX1, TREX1 1 0 1 0 0 2
ATRX 0 0 2 0 0 2
AUTS2 0 1 1 0 0 2
AXDND1, NPHS2 2 0 0 0 0 2
B3GALNT2 0 1 1 0 0 2
BBS10 1 0 1 0 0 2
BBS12 0 1 1 0 0 2
BCL11A 0 0 2 0 0 2
BCL11B 0 0 2 0 0 2
BRAF 1 1 0 0 0 2
BUB1 0 1 1 0 0 2
C12orf57 2 0 0 0 0 2
C1S 0 0 2 0 0 2
C3 0 0 2 0 0 2
C5 0 0 2 0 0 2
C6 1 1 0 0 0 2
CA5A 1 0 1 0 0 2
CABP2 1 0 1 0 0 2
CACNA1H 0 0 2 0 0 2
CACNA1S 0 1 1 0 0 2
CACNA2D2 0 2 0 0 0 2
CAMK2A 0 0 2 0 0 2
CAMK2G 0 0 2 0 0 2
CASD1, SGCE 0 0 2 0 0 2
CASQ2 1 0 1 0 0 2
CATIP, PNKD 0 0 2 0 0 2
CCBE1 0 0 2 0 0 2
CCDC115 0 0 2 0 0 2
CCDC39 0 1 1 0 0 2
CCDC40 1 1 0 0 0 2
CCNF 0 0 2 0 0 2
CD40LG 1 0 1 0 0 2
CDH11 0 0 2 0 0 2
CDK5RAP2 0 2 0 0 0 2
CENPE 0 0 2 0 0 2
CFAP43 0 1 1 0 0 2
CFI 0 0 2 0 0 2
CHRNG 1 1 0 0 0 2
CLDN16 0 0 2 0 0 2
CLN3 0 1 1 0 0 2
CLN5, LOC130009913 0 2 0 0 0 2
CLP1 1 0 1 0 0 2
CNKSR2 0 0 2 0 0 2
CNP 0 0 2 0 0 2
COASY 1 0 1 0 0 2
COCH, LOC100506071 0 1 1 0 0 2
COL11A2 0 0 2 0 0 2
COL13A1 0 1 1 0 0 2
COL18A1, SLC19A1 0 0 2 0 0 2
COL1A1, LOC126862586 1 1 0 0 0 2
COL3A1 1 0 1 0 0 2
COL9A1 0 0 2 0 0 2
COLEC11 0 0 2 0 0 2
COLQ 0 1 1 0 0 2
COPA 0 0 2 0 0 2
COQ4 0 1 1 0 0 2
COQ7 0 0 2 0 0 2
CP 0 1 1 0 0 2
CPAP, RNF17 1 1 0 0 0 2
CPLX1 0 0 2 0 0 2
CR2 0 0 2 0 0 2
CRAT 0 0 2 0 0 2
CRB1 1 1 0 0 0 2
CRTAP 0 2 0 0 0 2
CSNK2A1 0 1 1 0 0 2
CSNK2B 0 1 1 0 0 2
CSPP1 0 1 1 0 0 2
CTLA4 0 1 1 0 0 2
CTNNA3 0 0 2 0 0 2
CTRC 1 0 1 0 0 2
CYP11B1, LOC106799833 1 1 0 0 0 2
CYP17A1 0 1 1 0 0 2
CYP21A2, LOC106780800 0 1 1 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 0 2
CYP7B1 1 0 1 0 0 2
DARS2 0 1 1 0 0 2
DCLRE1C 0 1 1 0 0 2
DDC 1 1 0 0 0 2
DDX11 0 0 2 0 0 2
DEAF1, LOC126861109 0 1 1 0 0 2
DEGS1 0 1 1 0 0 2
DHTKD1 0 0 2 0 0 2
DHX16 0 0 2 0 0 2
DLAT 0 1 1 0 0 2
DLL1 1 0 1 0 0 2
DNAH1 0 0 2 0 0 2
DNAH9 0 0 2 0 0 2
DNAH9, LOC101928350 0 1 1 0 0 2
DNM1L 1 0 1 0 0 2
DNM2, LOC130063529 0 0 2 0 0 2
DONSON 0 1 1 0 0 2
DRD4 0 0 2 0 0 2
DSG1, DSG4 0 1 1 0 0 2
DST 0 1 1 0 0 2
DTNA 0 0 2 0 0 2
DZIP1L 0 0 2 0 0 2
ECEL1 0 1 1 0 0 2
ECHS1 1 1 0 0 0 2
ECM1 1 1 0 0 0 2
EDAR, RANBP2 2 0 0 0 0 2
EEF2 0 0 2 0 0 2
EFTUD2 1 0 1 0 0 2
EIF2AK3 0 1 1 0 0 2
EIF2B1, LOC126861664 0 1 1 0 0 2
ELANE 0 1 1 0 0 2
ELN 0 1 1 0 0 2
EMD 1 1 0 0 0 2
ENG 1 0 1 0 0 2
ENG, LOC102723566 0 2 0 0 0 2
ERCC3 0 0 2 0 0 2
ERCC4 1 0 1 0 0 2
ESPN 0 1 1 0 0 2
EXOC2 0 0 2 0 0 2
EXOSC3 1 1 0 0 0 2
EYA1 0 0 2 0 0 2
EYA4 0 1 1 0 0 2
EYS 0 1 1 0 0 2
F9 2 0 0 0 0 2
FA2H, LOC130059394 1 0 1 0 0 2
FBP1 1 1 0 0 0 2
FBXL4 0 0 2 0 0 2
FBXO11 0 0 2 0 0 2
FBXO7 1 0 1 0 0 2
FBXW11 0 0 2 0 0 2
FBXW7 0 0 2 0 0 2
FGF13 0 0 2 0 0 2
FGG 0 1 1 0 0 2
FLT4 0 2 0 0 0 2
FOCAD 0 1 1 0 0 2
FOXE3, LINC01389 0 0 2 0 0 2
FOXP2 0 1 1 0 0 2
FRAS1 0 0 2 0 0 2
GABRB1 0 0 2 0 0 2
GABRB2 0 0 2 0 0 2
GABRD 0 0 2 0 0 2
GALK1, ITGB4 0 0 2 0 0 2
GAMT, LOC130062945 0 2 0 0 0 2
GATM 0 0 2 0 0 2
GFM1 0 1 1 0 0 2
GFPT1 0 1 1 0 0 2
GHR 1 0 1 0 0 2
GHRHR 1 1 0 0 0 2
GIPC3 0 1 1 0 0 2
GJB3 0 0 2 0 0 2
GLB1, LOC129936434, TMPPE 1 1 0 0 0 2
GLI2 0 0 2 0 0 2
GLUD2 0 0 2 0 0 2
GMPPB 1 0 1 0 0 2
GNAO1 0 0 2 0 0 2
GNB1 0 0 2 0 0 2
GPC3 0 0 2 0 0 2
GPT2 0 0 2 0 0 2
GRIA3 0 0 2 0 0 2
GRIK2 0 0 2 0 0 2
GRK1 0 2 0 0 0 2
GTPBP3 0 2 0 0 0 2
GUSB 0 1 1 0 0 2
HAX1 0 1 1 0 0 2
HBA-LCR, NPRL3 0 1 1 0 0 2
HEPACAM 1 0 1 0 0 2
HGSNAT 1 0 1 0 0 2
HIBCH 0 1 1 0 0 2
HK1 0 1 1 0 0 2
HMGCL 1 1 0 0 0 2
HMMR 0 0 2 0 0 2
HNRNPA2B1 0 0 2 0 0 2
HNRNPH2, RPL36A-HNRNPH2 2 0 0 0 0 2
HNRNPU 0 1 1 0 0 2
HRAS, LRRC56 1 1 0 0 0 2
HSD17B3, SLC35D2-HSD17B3 0 2 0 0 0 2
HSD3B2 0 0 2 0 0 2
HSPD1 0 0 2 0 0 2
HUWE1 0 0 2 0 0 2
IFNGR1 1 1 0 0 0 2
IFT122 0 0 2 0 0 2
IFT80, TRIM59-IFT80 0 0 2 0 0 2
IGF1R 0 0 2 0 0 2
IKBKB 0 0 2 0 0 2
IL10RA 0 1 1 0 0 2
IL2RG 2 0 0 0 0 2
IL6R 0 0 2 0 0 2
IL6ST 0 0 2 0 0 2
IL7R 0 1 1 0 0 2
INPP5E 0 0 2 0 0 2
INPPL1 0 0 2 0 0 2
IRAK4 0 1 1 0 0 2
ISCA2 0 0 2 0 0 2
ITGA8 0 1 1 0 0 2
ITK 0 0 2 0 0 2
JAM3 0 1 1 0 0 2
KAT6B 0 2 0 0 0 2
KATNIP 0 2 0 0 0 2
KCND3 0 0 2 0 0 2
KCNH1 1 0 1 0 0 2
KCNJ11 2 0 0 0 0 2
KCNK4, KCNK4-CATSPERZ 0 0 2 0 0 2
KCNN2, LOC101927078 0 0 2 0 0 2
KCNQ4 0 0 2 0 0 2
KCTD7 0 1 1 0 0 2
KDM4B 0 0 2 0 0 2
KDM4B, LOC130063244 0 0 2 0 0 2
KIDINS220 0 1 1 0 0 2
KIF14 0 1 1 0 0 2
KIF20A 0 1 1 0 0 2
KIF2A 0 0 2 0 0 2
KLF1, LOC117125591 1 1 0 0 0 2
KNL1 0 0 2 0 0 2
LAGE3 0 0 2 0 0 2
LAMA1 0 1 1 0 0 2
LAMC3 0 2 0 0 0 2
LARGE1 0 1 1 0 0 2
LDB3 0 0 2 0 0 2
LGI1 0 0 2 0 0 2
LIPT1, MITD1 0 1 1 0 0 2
LNPK 0 1 1 0 0 2
LOC101928008, SBF2 0 1 1 0 0 2
LOC106029312, NCF1 1 0 1 0 0 2
LOC107985033, SLFN14 0 0 2 0 0 2
LOC108281177, SOX2, SOX2-OT 0 0 2 0 0 2
LOC113788277, PLPBP 0 0 2 0 0 2
LOC123956210, SLC26A4 0 1 1 0 0 2
LOC126859651, VARS1 0 1 1 0 0 2
LOC126859690, PKHD1 1 0 1 0 0 2
LOC126860802, ZMYND11 0 1 1 0 0 2
LOC126861898, MYH7 0 0 2 0 0 2
LOC126862264, MEFV 1 0 1 0 0 2
LOC129994526, SLC12A2 0 0 2 0 0 2
LOC130056973, SPG11 1 0 1 0 0 2
LOXHD1 1 1 0 0 0 2
LPIN2 0 0 2 0 0 2
LRPPRC 0 0 2 0 0 2
LTBP4 0 0 2 0 0 2
MADD 0 0 2 0 0 2
MANBA 0 0 2 0 0 2
MASP2 0 0 2 0 0 2
MAST1 0 0 2 0 0 2
MATN3 1 1 0 0 0 2
MC1R 0 1 1 0 0 2
MC2R 0 2 0 0 0 2
MC4R 0 0 2 0 0 2
MCCC2 0 2 0 0 0 2
MED12L 0 0 2 0 0 2
MEF2C 0 0 2 0 0 2
MEGF10 0 0 2 0 0 2
MET 0 0 2 0 0 2
MICU1 1 0 1 0 0 2
MMADHC 1 0 1 0 0 2
MMP2 0 0 2 0 0 2
MOCOS 0 2 0 0 0 2
MRAS 1 0 1 0 0 2
MRPS22 0 0 2 0 0 2
MSTO1 0 1 1 0 0 2
MTHFD1 0 0 2 0 0 2
MTMR2 0 1 1 0 0 2
MTTP 0 2 0 0 0 2
MVK 0 0 2 0 0 2
MYBPC1 0 0 2 0 0 2
MYL3 0 0 2 0 0 2
MYO9A 0 0 2 0 0 2
MYOT, PKD2L2-DT 0 0 2 0 0 2
MYPN 0 0 2 0 0 2
NARS1 0 0 2 0 0 2
NARS2 0 0 2 0 0 2
NCF4 0 2 0 0 0 2
NCKAP1L 0 1 1 0 0 2
NEFL 0 0 2 0 0 2
NEK10 0 0 2 0 0 2
NEUROD2 1 0 1 0 0 2
NFKB2 0 0 2 0 0 2
NHLRC1 0 1 1 0 0 2
NIPAL4 2 0 0 0 0 2
NLRP3 0 0 2 0 0 2
NMNAT1 0 2 0 0 0 2
NPR2 0 0 2 0 0 2
NTNG2 0 0 2 0 0 2
NUBPL 0 1 1 0 0 2
NUS1 1 0 1 0 0 2
ODAD3 0 2 0 0 0 2
OFD1 0 0 2 0 0 2
OTUD5 0 0 2 0 0 2
OTULIN 0 0 2 0 0 2
P4HTM 0 1 1 0 0 2
PAK3 0 0 2 0 0 2
PARK7 0 0 2 0 0 2
PAX3 1 0 1 0 0 2
PC 0 1 1 0 0 2
PDX1 0 0 2 0 0 2
PEX11B 0 2 0 0 0 2
PEX13 0 0 2 0 0 2
PEX16 0 0 2 0 0 2
PEX26 0 1 1 0 0 2
PEX3 0 1 1 0 0 2
PHF21A 0 0 2 0 0 2
PHIP 0 1 1 0 0 2
PHKA1 0 0 2 0 0 2
PIGA 0 0 2 0 0 2
PIGO 0 1 1 0 0 2
PIGT 0 2 0 0 0 2
PIK3R2 1 0 1 0 0 2
PKD1L1 0 2 0 0 0 2
PLEKHG2 0 1 1 0 0 2
PLOD2 0 1 1 0 0 2
PLP1, RAB9B 0 0 2 0 0 2
PMM2 1 0 1 0 0 2
POLA1 0 0 2 0 0 2
POLG, POLGARF 0 0 2 0 0 2
POMT1 0 0 2 0 0 2
POMT2 0 1 1 0 0 2
PORCN 0 1 1 0 0 2
POU3F3 0 0 2 0 0 2
PPIL1 0 0 2 0 0 2
PPP3CA 0 0 2 0 0 2
PPT1 0 2 0 0 0 2
PQBP1 0 0 2 0 0 2
PRDM13 0 0 2 0 0 2
PRKN 0 0 2 0 0 2
PRKRA 0 0 2 0 0 2
PROC 0 0 2 0 0 2
PRR12 0 0 2 0 0 2
PRUNE1 1 0 1 0 0 2
PSEN1 0 1 1 0 0 2
PUF60 0 1 1 0 0 2
PUS7 0 1 1 0 0 2
PYCR2 0 1 1 0 0 2
PYGM 1 1 0 0 0 2
RAG1 0 0 2 0 0 2
RB1 1 1 0 0 0 2
REEP1 1 0 1 0 0 2
RELN 0 0 2 0 0 2
RFC1 0 2 0 0 0 2
RMND1 0 1 1 0 0 2
RNASEH1 1 0 1 0 0 2
RNASEH2A 0 1 1 0 0 2
RNASEH2C 1 1 0 0 0 2
ROGDI 1 1 0 0 0 2
RPGRIP1L 0 2 0 0 0 2
RPS24 0 1 1 0 0 2
RRM2B 0 1 1 0 0 2
RXYLT1 1 0 1 0 0 2
SATB1 0 0 2 0 0 2
SCAPER 0 0 2 0 0 2
SCN4A 1 0 1 0 0 2
SCNN1G 0 0 2 0 0 2
SCYL1 0 2 0 0 0 2
SDHA 1 1 0 0 0 2
SEC23A 0 0 2 0 0 2
SEPSECS 1 0 1 0 0 2
SH2B3 0 1 1 0 0 2
SHANK3 0 0 2 0 0 2
SI 0 1 1 0 0 2
SIGMAR1 0 0 2 0 0 2
SLC12A1 0 1 1 0 0 2
SLC16A2 1 1 0 0 0 2
SLC1A4 0 1 1 0 0 2
SLC25A1 1 0 1 0 0 2
SLC25A13 2 0 0 0 0 2
SLC26A2 0 1 1 0 0 2
SLC27A4 0 0 2 0 0 2
SLC29A3 1 0 1 0 0 2
SLC2A2 1 1 0 0 0 2
SLC45A1 0 0 2 0 0 2
SLC52A3 0 0 2 0 0 2
SLC5A2 0 0 2 0 0 2
SLC6A19 0 1 1 0 0 2
SLC6A3 0 0 2 0 0 2
SLC6A9 0 0 2 0 0 2
SLC9A6 0 1 1 0 0 2
SLURP1 1 0 1 0 0 2
SLX4 0 1 1 0 0 2
SMARCA4 0 0 2 0 0 2
SMG9 0 0 2 0 0 2
SMPD4 1 0 1 0 0 2
SNCB 0 0 2 0 0 2
SOD1, SOD1-DT 1 1 0 0 0 2
SOS2 0 0 2 0 0 2
SOX9 1 0 1 0 0 2
SPAG1 0 1 1 0 0 2
SPINK5 1 0 1 0 0 2
SQSTM1 0 1 1 0 0 2
SRD5A3 1 0 1 0 0 2
SRP72 0 0 2 0 0 2
STIL 0 0 2 0 0 2
STIM1 0 0 2 0 0 2
SUPT16H 0 0 2 0 0 2
TAF2 0 0 2 0 0 2
TALDO1 0 1 1 0 0 2
TAOK1 0 0 2 0 0 2
TARS2 0 0 2 0 0 2
TBC1D8B 0 0 2 0 0 2
TBK1 0 0 2 0 0 2
TBR1 0 0 2 0 0 2
TCF4 0 1 1 0 0 2
TCOF1 0 1 1 0 0 2
TELO2 0 1 1 0 0 2
TEX14 0 0 2 0 0 2
TEX15 0 1 1 0 0 2
TFE3 0 0 2 0 0 2
TGFB1 1 1 0 0 0 2
TGFB2 0 0 2 0 0 2
TGFB3 0 1 1 0 0 2
TGFBI 2 0 0 0 0 2
TGFBR2 0 1 1 0 0 2
THAP1 0 1 1 0 0 2
THOC6 2 0 0 0 0 2
TMC1 0 0 2 0 0 2
TMEM138 0 0 2 0 0 2
TMEM147 0 0 2 0 0 2
TMEM63A 0 0 2 0 0 2
TMEM67 1 0 1 0 0 2
TMEM94 0 2 0 0 0 2
TMIE 0 2 0 0 0 2
TMPRSS15 0 2 0 0 0 2
TMX2, TMX2-CTNND1 0 1 1 0 0 2
TNFAIP3 0 0 2 0 0 2
TNNT1 0 1 1 0 0 2
TNPO3 0 1 1 0 0 2
TPM2 0 0 2 0 0 2
TPM3 0 0 2 0 0 2
TRDN 0 1 1 0 0 2
TRMT1 0 1 1 0 0 2
TTC5 0 1 1 0 0 2
TTC7A 0 1 1 0 0 2
TUBA1A 0 1 1 0 0 2
TUBB2A 0 2 0 0 0 2
TUBB3 0 0 2 0 0 2
TUBGCP6 0 0 2 0 0 2
TULP1 0 1 1 0 0 2
UGP2 1 0 1 0 0 2
UQCRC1 0 0 2 0 0 2
UROD 0 1 1 0 0 2
VAC14 0 1 1 0 0 2
VARS1 0 0 2 0 0 2
VCAN 0 0 2 0 0 2
VDR 0 0 2 0 0 2
VPS4A 0 0 2 0 0 2
WDR19 0 2 0 0 0 2
WDR45 0 0 2 0 0 2
WDR81 0 1 1 0 0 2
WNT5A 0 1 1 0 0 2
XPC 1 1 0 0 0 2
ZBTB20 1 0 1 0 0 2
ZIC1 0 0 2 0 0 2
ZSWIM6 0 0 2 0 0 2
ABCA7, LOC130062871 0 0 1 0 0 1
ABCB11, LOC126806400 0 0 1 0 0 1
ABCC2, LOC126861013 0 1 0 0 0 1
ABCG5, DYNC2LI1 1 0 0 0 0 1
ABHD5 0 1 0 0 0 1
ACADVL 0 1 0 0 0 1
ACBD5 0 1 0 0 0 1
ACSF3 0 0 1 0 0 1
ACSM3, THUMPD1 0 0 1 0 0 1
ACTG1 0 0 1 0 0 1
ACTN1 0 0 1 0 0 1
ACTN2 0 0 1 0 0 1
ACVR1 1 0 0 0 0 1
ACVRL1 1 0 0 0 0 1
ADA, LOC107303343 1 0 0 0 0 1
ADAMTSL2 0 0 1 0 0 1
ADAMTSL4 0 0 1 0 0 1
ADAR 1 0 0 0 0 1
ADARB1 0 0 1 0 0 1
ADH1C 0 0 1 0 0 1
ADPRS 1 0 0 0 0 1
ADSS1 0 0 1 0 0 1
AFF2 0 0 1 0 0 1
AFG3L2 0 0 1 0 0 1
AFG3L2, TUBB6 0 0 1 0 0 1
AGBL1 0 0 1 0 0 1
AGR2 0 0 1 0 0 1
AIMP2 0 1 0 0 0 1
AIMP2, LOC129997917 0 0 1 0 0 1
AKAP10 0 0 1 0 0 1
AKR1C2 0 0 1 0 0 1
AKT1 0 0 1 0 0 1
ALAS2 0 0 1 0 0 1
ALDH18A1 0 0 1 0 0 1
ALG1 0 1 0 0 0 1
ALG11 0 0 1 0 0 1
ALG14, LOC129930989 0 0 1 0 0 1
ALG6 0 0 1 0 0 1
ALG8 1 0 0 0 0 1
ALOX12B 0 0 1 0 0 1
ALOXE3 0 0 1 0 0 1
AMD1, CDK19 0 0 1 0 0 1
AMN 0 0 1 0 0 1
AMN, LOC130056553 0 1 0 0 0 1
AMPD2 0 0 1 0 0 1
AMPD2, LOC126805822 0 1 0 0 0 1
AMT, NICN1 0 1 0 0 0 1
ANK1, LOC126860368 0 0 1 0 0 1
ANK1, LOC126860369 0 0 1 0 0 1
ANKH 1 0 0 0 0 1
ANTXR1 0 1 0 0 0 1
ANXA5 0 0 1 0 0 1
AOPEP 0 1 0 0 0 1
AP1B1 0 0 1 0 0 1
AP1G1 0 0 1 0 0 1
AP1S1 0 0 1 0 0 1
AP1S2 1 0 0 0 0 1
AP3B1 0 1 0 0 0 1
AP3B2 0 1 0 0 0 1
AP3D1 0 0 1 0 0 1
AP4B1, DCLRE1B, LOC129931235 0 0 1 0 0 1
AP4M1 0 1 0 0 0 1
AP4S1 0 1 0 0 0 1
APC2, LOC130062956 0 0 1 0 0 1
APOC2, APOC4-APOC2 0 1 0 0 0 1
APP 1 0 0 0 0 1
APRT 0 1 0 0 0 1
AQP2 1 0 0 0 0 1
AQP2, AQP5 0 0 1 0 0 1
ARFGEF1, CSPP1 0 0 1 0 0 1
ARFGEF2 0 1 0 0 0 1
ARHGEF10 0 0 1 0 0 1
ARHGEF18 0 1 0 0 0 1
ARHGEF2 0 0 1 0 0 1
ARHGEF9 0 0 1 0 0 1
ARID1A, LOC126805670 0 0 1 0 0 1
ARID1B, LOC115308161 0 1 0 0 0 1
ARPC1B 0 0 1 0 0 1
ARSK 0 0 1 0 0 1
ARSK, LOC126807455 0 0 1 0 0 1
ARSL 0 0 1 0 0 1
ARV1 0 1 0 0 0 1
ASIC4, GMPPA 0 0 1 0 0 1
ASPH 1 0 0 0 0 1
ASXL2 0 1 0 0 0 1
ATF6 0 1 0 0 0 1
ATL1 1 0 0 0 0 1
ATL3, LOC126861231 0 0 1 0 0 1
ATP1A2, LOC126805890 0 0 1 0 0 1
ATP6AP2 0 0 1 0 0 1
ATXN7L3, LOC121587595, UBTF 0 0 1 0 0 1
AXIN2 0 0 1 0 0 1
B4GALT1 0 0 1 0 0 1
B9D1 0 0 1 0 0 1
B9D1, LOC130060455 0 0 1 0 0 1
BAAT 0 0 1 0 0 1
BACH2 0 0 1 0 0 1
BAG5 0 0 1 0 0 1
BBS1 0 1 0 0 0 1
BBS1, ZDHHC24 0 0 1 0 0 1
BBS5 0 1 0 0 0 1
BBS7 1 0 0 0 0 1
BBS7, LOC129993036 0 0 1 0 0 1
BCAS3 0 1 0 0 0 1
BCOR 0 0 1 0 0 1
BICD2 0 0 1 0 0 1
BLOC1S6 0 1 0 0 0 1
BMPER 0 0 1 0 0 1
BMPR1A 0 1 0 0 0 1
BNC2 0 0 1 0 0 1
BPGM 0 0 1 0 0 1
BRF1, PACS2 0 0 1 0 0 1
BRPF1 0 0 1 0 0 1
BRWD3 0 0 1 0 0 1
BSND 0 0 1 0 0 1
BUB1B 0 0 1 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
C17orf107, CHRNE 0 0 1 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
C1QB 0 0 1 0 0 1
C1QC 0 0 1 0 0 1
C2CD3, LOC126861262 0 0 1 0 0 1
C7 1 0 0 0 0 1
C8B 0 0 1 0 0 1
CACNA1A, LOC126862864 1 0 0 0 0 1
CACNA1A, LOC126862865 0 0 1 0 0 1
CACNA1B 0 1 0 0 0 1
CACNA1F 0 1 0 0 0 1
CACNB2 0 0 1 0 0 1
CAD 0 0 1 0 0 1
CAD, LOC126806172 0 0 1 0 0 1
CAMTA1, LOC126805603 0 0 1 0 0 1
CAPN1 0 1 0 0 0 1
CAPN15 0 0 1 0 0 1
CAPN3, LOC126862115 0 0 1 0 0 1
CARD10 0 0 1 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CARS2 0 1 0 0 0 1
CARS2, LOC130010127 0 0 1 0 0 1
CASP10 0 0 1 0 0 1
CAST, LOC101929710, PCSK1 0 1 0 0 0 1
CAV1 0 0 1 0 0 1
CAVIN1 0 1 0 0 0 1
CC2D1A 0 0 1 0 0 1
CCDC22 0 0 1 0 0 1
CCDC47 0 1 0 0 0 1
CCDC65 0 1 0 0 0 1
CCDST, FLG2 0 0 1 0 0 1
CCNH, RASA1 0 0 1 0 0 1
CCNO, LOC129993895 1 0 0 0 0 1
CCT5 0 0 1 0 0 1
CD151 0 0 1 0 0 1
CD247 0 0 1 0 0 1
CD3E 0 0 1 0 0 1
CD46 0 0 1 0 0 1
CD55 1 0 0 0 0 1
CD59 0 0 1 0 0 1
CD96 0 0 1 0 0 1
CDAN1, LOC130056932 0 0 1 0 0 1
CDC40 0 0 1 0 0 1
CDC42, LOC122056785 0 0 1 0 0 1
CDK13, LOC129998292 0 0 1 0 0 1
CDK19 0 0 1 0 0 1
CDK8 0 0 1 0 0 1
CDON 0 0 1 0 0 1
CDSN, PSORS1C1 0 1 0 0 0 1
CELA2A 1 0 0 0 0 1
CELF2 0 0 1 0 0 1
CEP152 1 0 0 0 0 1
CEP164 0 1 0 0 0 1
CEP19 0 1 0 0 0 1
CEP250 0 0 1 0 0 1
CEP41 0 1 0 0 0 1
CERS3 0 0 1 0 0 1
CERT1 0 0 1 0 0 1
CETP 0 0 1 0 0 1
CFAP44, LOC127898559 0 1 0 0 0 1
CFAP96, UFSP2 1 0 0 0 0 1
CFB 0 0 1 0 0 1
CFD 0 0 1 0 0 1
CHCHD10 0 0 1 0 0 1
CHD4 0 0 1 0 0 1
CHD7, LOC126860403 0 1 0 0 0 1
CHKA 0 0 1 0 0 1
CHRNA4 0 0 1 0 0 1
CHRNB2 0 0 1 0 0 1
CHRND 0 1 0 0 0 1
CHRNE 0 1 0 0 0 1
CIITA 0 0 1 0 0 1
CIZ1, DNM1 1 0 0 0 0 1
CKAP2L 0 0 1 0 0 1
CLCN6 0 0 1 0 0 1
CLN8 1 0 0 0 0 1
CLTC 0 0 1 0 0 1
CLTC, LOC125177523 0 0 1 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 1
CNNM2 0 0 1 0 0 1
CNOT2 0 0 1 0 0 1
COA7 0 1 0 0 0 1
COASY, LOC130060908 0 0 1 0 0 1
COG1 0 0 1 0 0 1
COG4 0 1 0 0 0 1
COG5 0 0 1 0 0 1
COG6 0 0 1 0 0 1
COL12A1, LOC126859712 0 0 1 0 0 1
COL27A1 0 1 0 0 0 1
COL4A2 0 0 1 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 1
COL5A2 0 0 1 0 0 1
COL6A3, LOC122889011 1 0 0 0 0 1
COQ2 0 0 1 0 0 1
COQ8B 0 0 1 0 0 1
COX11 0 0 1 0 0 1
CPA6 0 0 1 0 0 1
CPAMD8 0 1 0 0 0 1
CPAP 0 0 1 0 0 1
CPS1 0 0 1 0 0 1
CPT1C 0 0 1 0 0 1
CRB2 0 0 1 0 0 1
CRLF1, LOC112543470 0 1 0 0 0 1
CRPPA 0 0 1 0 0 1
CSF2RA 0 0 1 0 0 1
CSTB, LOC130066788 0 1 0 0 0 1
CTC1, PFAS 0 0 1 0 0 1
CTDP1 0 0 1 0 0 1
CTNNB1, LOC126806659 0 0 1 0 0 1
CTNND1, TMX2-CTNND1 0 0 1 0 0 1
CTSC 0 1 0 0 0 1
CUBN 0 1 0 0 0 1
CUL3 0 0 1 0 0 1
CUL4B, LOC113845788 0 0 1 0 0 1
CYBA 1 0 0 0 0 1
CYBB 0 1 0 0 0 1
CYFIP2 0 0 1 0 0 1
CYFIP2, NIPAL4-DT 0 0 1 0 0 1
CYLD, NOD2 0 0 1 0 0 1
CYP11A1 0 0 1 0 0 1
CYP24A1 0 0 1 0 0 1
CYP2R1, PDE3B 0 1 0 0 0 1
CYP3A4 0 0 1 0 0 1
DACT1 0 0 1 0 0 1
DAG1 0 0 1 0 0 1
DBT 0 0 1 0 0 1
DCDC2 1 0 0 0 0 1
DCDC2, KAAG1 0 0 1 0 0 1
DCPS, GSEC 0 1 0 0 0 1
DDB1 0 0 1 0 0 1
DDB2 0 0 1 0 0 1
DDX23 0 0 1 0 0 1
DDX41 0 0 1 0 0 1
DEF6 0 1 0 0 0 1
DGAT1 0 0 1 0 0 1
DGUOK 0 0 1 0 0 1
DHDDS 0 0 1 0 0 1
DHH 0 0 1 0 0 1
DHODH 0 0 1 0 0 1
DHX37 0 0 1 0 0 1
DIAPH1 0 0 1 0 0 1
DIS3L2 0 0 1 0 0 1
DKC1 0 0 1 0 0 1
DLD 1 0 0 0 0 1
DLG3 0 0 1 0 0 1
DLL3, LOC130064417, PLEKHG2 1 0 0 0 0 1
DMXL2 0 0 1 0 0 1
DNA2 0 1 0 0 0 1
DNAAF19 1 0 0 0 0 1
DNAAF2 0 1 0 0 0 1
DNAAF5 0 1 0 0 0 1
DNAH11, LOC126859961 0 1 0 0 0 1
DNASE1 0 0 1 0 0 1
DNM1, LOC113839516 0 0 1 0 0 1
DNM1, LOC130002698 0 1 0 0 0 1
DOCK2 0 1 0 0 0 1
DOCK6 0 0 1 0 0 1
DPH2 0 1 0 0 0 1
DPH5, SLC30A7 0 0 1 0 0 1
DPP6 0 0 1 0 0 1
DPYSL5 0 0 1 0 0 1
DRD5, SLC2A9 0 0 1 0 0 1
DSE, TSPYL1 0 0 1 0 0 1
DYNC1H1, LOC126862060 0 0 1 0 0 1
DYRK1B 0 0 1 0 0 1
EBF3 0 1 0 0 0 1
EDA 0 1 0 0 0 1
EDAR 0 0 1 0 0 1
EDARADD 1 0 0 0 0 1
EDNRB 0 0 1 0 0 1
EEF1A2 0 1 0 0 0 1
EEF1A2, LOC132090595 0 0 1 0 0 1
EGFR 1 0 0 0 0 1
EGLN1 0 0 1 0 0 1
EIF2AK1 0 0 1 0 0 1
EIF2AK2 0 0 1 0 0 1
EIF2AK4 0 1 0 0 0 1
EIF2B1 0 0 1 0 0 1
ELMOD3 0 0 1 0 0 1
ELOVL4 0 0 1 0 0 1
EMC10 0 1 0 0 0 1
EPAS1 0 0 1 0 0 1
EPAS1, LOC126806210 0 0 1 0 0 1
EPM2A, EPM2A-DT, LOC129997381 0 1 0 0 0 1
EPOR 0 0 1 0 0 1
EPRS1 0 0 1 0 0 1
EPS8L2 0 0 1 0 0 1
ERBB3 0 0 1 0 0 1
ERCC1 0 1 0 0 0 1
ERCC6, LOC126860933 1 0 0 0 0 1
ERCC6L2 0 1 0 0 0 1
ERCC8 0 0 1 0 0 1
ERF 0 1 0 0 0 1
ERGIC1 0 0 1 0 0 1
ESCO2 1 0 0 0 0 1
ETV6 0 0 1 0 0 1
EVC 0 1 0 0 0 1
EXOC6B 0 1 0 0 0 1
EXOC7 0 0 1 0 0 1
EXOSC8, LOC130009581 0 0 1 0 0 1
EXT2 1 0 0 0 0 1
EZH2 0 0 1 0 0 1
F10 0 0 1 0 0 1
F13A1 0 0 1 0 0 1
F2 0 0 1 0 0 1
FADD 0 1 0 0 0 1
FAM111B 0 0 1 0 0 1
FAM20A 0 1 0 0 0 1
FANCA, LOC112486223 1 0 0 0 0 1
FANCA, LOC130059837 0 1 0 0 0 1
FANCB 0 1 0 0 0 1
FANCB, GLRA2 0 0 1 0 0 1
FANCC 0 1 0 0 0 1
FANCM, LOC130055524 0 0 1 0 0 1
FASLG 0 0 1 0 0 1
FASTKD2 0 0 1 0 0 1
FAT1 0 0 1 0 0 1
FAT2, SLC36A1 0 0 1 0 0 1
FAT4 0 0 1 0 0 1
FBLN1 0 0 1 0 0 1
FBN1, LOC126862124 0 0 1 0 0 1
FBP2 0 0 1 0 0 1
FBXO28 0 0 1 0 0 1
FBXO38 0 0 1 0 0 1
FCSK 0 0 1 0 0 1
FDXR 0 0 1 0 0 1
FDXR, LOC112533667 0 1 0 0 0 1
FERMT3 0 1 0 0 0 1
FERRY3 0 1 0 0 0 1
FEZF1 0 0 1 0 0 1
FGA 0 1 0 0 0 1
FGD4 0 0 1 0 0 1
FGF14 0 0 1 0 0 1
FGF3 0 0 1 0 0 1
FGFR1 0 1 0 0 0 1
FHOD3 0 0 1 0 0 1
FIBP 0 0 1 0 0 1
FKRP 0 0 1 0 0 1
FLCN 1 0 0 0 0 1
FLVCR1 0 1 0 0 0 1
FLVCR2 0 0 1 0 0 1
FMR1 0 0 1 0 0 1
FN1, LOC126806498 0 0 1 0 0 1
FN1, LOC126806499 0 0 1 0 0 1
FOXC1, LOC129995601 1 0 0 0 0 1
FOXJ1 0 0 1 0 0 1
FOXN1 0 1 0 0 0 1
FOXP3 1 0 0 0 0 1
FOXRED1 0 1 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 1
FRMPD4 0 0 1 0 0 1
FSIP2 0 0 1 0 0 1
FUCA1 0 1 0 0 0 1
G6PC1 0 0 1 0 0 1
GABRA2 0 0 1 0 0 1
GAD1 0 0 1 0 0 1
GALNT3 0 1 0 0 0 1
GAN 0 0 1 0 0 1
GAN, LOC130059498 0 0 1 0 0 1
GAREM2, HADHA 0 0 1 0 0 1
GARS1 1 0 0 0 0 1
GATA1 0 1 0 0 0 1
GATA2 0 0 1 0 0 1
GATA6 0 1 0 0 0 1
GBF1 0 0 1 0 0 1
GCDH, LOC117125594 0 0 1 0 0 1
GCK 0 0 1 0 0 1
GCLC 0 0 1 0 0 1
GDF3 0 0 1 0 0 1
GDF5 0 0 1 0 0 1
GFI1B 1 0 0 0 0 1
GFM2 0 1 0 0 0 1
GFRA1 0 0 1 0 0 1
GGPS1 0 0 1 0 0 1
GIMAP1-GIMAP5, GIMAP5 1 0 0 0 0 1
GJA5, LOC122128420 0 0 1 0 0 1
GJB6 0 0 1 0 0 1
GLA 0 0 1 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 0 1
GLE1 0 1 0 0 0 1
GLI1 0 0 1 0 0 1
GLS, LOC129935269 0 0 1 0 0 1
GNAI1 0 0 1 0 0 1
GNG12, WLS 0 0 1 0 0 1
GNRHR 1 0 0 0 0 1
GOLGA2 0 1 0 0 0 1
GORAB 0 1 0 0 0 1
GP1BA 0 1 0 0 0 1
GPAA1 0 0 1 0 0 1
GPC4 0 0 1 0 0 1
GPHN 0 1 0 0 0 1
GPHN, PIGH 1 0 0 0 0 1
GPHN, RDH12 1 0 0 0 0 1
GPR179 0 1 0 0 0 1
GPSM2 0 1 0 0 0 1
GRHL2 0 0 1 0 0 1
GRHL3 0 0 1 0 0 1
GRIA1 0 0 1 0 0 1
GRIN2D, LOC130064855 0 0 1 0 0 1
GRM6 0 1 0 0 0 1
GRM6, ZNF454 0 1 0 0 0 1
GRN 0 1 0 0 0 1
GSDME 0 0 1 0 0 1
GSN 0 0 1 0 0 1
GSR, LOC130000170 0 1 0 0 0 1
GUCA1B 0 0 1 0 0 1
GUCY1A1 0 1 0 0 0 1
GUCY2C 0 0 1 0 0 1
HADHA 0 0 1 0 0 1
HARS1 0 0 1 0 0 1
HBA2, LOC106804612 0 1 0 0 0 1
HCN2 0 0 1 0 0 1
HEPHL1 0 1 0 0 0 1
HERC1 0 0 1 0 0 1
HESX1 0 0 1 0 0 1
HFM1 0 1 0 0 0 1
HIKESHI 0 1 0 0 0 1
HINT1 1 0 0 0 0 1
HLCS 0 1 0 0 0 1
HMOX1 0 0 1 0 0 1
HNF4A 0 0 1 0 0 1
HOXA11, LOC107126281 0 0 1 0 0 1
HOXA13, LOC107126288 0 0 1 0 0 1
HPCA 0 0 1 0 0 1
HPDL 0 0 1 0 0 1
HPRT1 0 0 1 0 0 1
HPS3 0 1 0 0 0 1
HPS4 0 0 1 0 0 1
HPS5 0 1 0 0 0 1
HR 0 0 1 0 0 1
HS6ST2 0 0 1 0 0 1
HSCB 0 0 1 0 0 1
HSD11B2 0 0 1 0 0 1
HSPB1 0 0 1 0 0 1
HTRA1 0 0 1 0 0 1
HUWE1, LOC126863263 0 0 1 0 0 1
HYLS1, PUS3 0 0 1 0 0 1
IARS1 0 0 1 0 0 1
ICOS 0 1 0 0 0 1
IFT122, LOC126806810 0 0 1 0 0 1
IFT140 0 0 1 0 0 1
IFT140, LOC105371046 0 1 0 0 0 1
IFT140, LOC126862260 0 0 1 0 0 1
IFT172, LOC126806174 0 0 1 0 0 1
IGF1R, LOC126862245 0 0 1 0 0 1
IGSF1 0 1 0 0 0 1
IKZF1 0 0 1 0 0 1
IL12RB1, LOC130063972 0 0 1 0 0 1
IL17F 0 0 1 0 0 1
IL17RA 0 1 0 0 0 1
IL17RD, LOC129936924 0 0 1 0 0 1
IL21R 0 0 1 0 0 1
IL2RB 0 0 1 0 0 1
INPP5K 1 0 0 0 0 1
INSR 0 0 1 0 0 1
IRAK1BP1, PHIP 0 0 1 0 0 1
IRF2BP2 0 0 1 0 0 1
IRF2BP2, LOC129932811 0 0 1 0 0 1
IRF8 0 0 1 0 0 1
IRF9 0 0 1 0 0 1
IRS2 0 0 1 0 0 1
ISCA1, LOC130001967 0 0 1 0 0 1
ITGA3 0 0 1 0 0 1
ITGB4 1 0 0 0 0 1
ITPA 0 1 0 0 0 1
ITPR1, LOC126806590 0 0 1 0 0 1
ITSN1 0 0 1 0 0 1
JAG2 0 0 1 0 0 1
JARID2 0 0 1 0 0 1
JMJD8, STUB1 0 0 1 0 0 1
JPH2 0 0 1 0 0 1
KANK1 0 0 1 0 0 1
KARS1 0 0 1 0 0 1
KARS1, LOC126862402 0 0 1 0 0 1
KAT5 0 0 1 0 0 1
KATNB1 0 1 0 0 0 1
KCNC1 1 0 0 0 0 1
KCNC2 0 0 1 0 0 1
KCNC3 1 0 0 0 0 1
KCNE2, LOC105372791 0 1 0 0 0 1
KCNH2 0 0 1 0 0 1
KCNJ2 0 0 1 0 0 1
KCNQ3 0 0 1 0 0 1
KCTD17 0 0 1 0 0 1
KDM1A 0 0 1 0 0 1
KDM5B 0 1 0 0 0 1
KIF11 0 0 1 0 0 1
KIF15 0 0 1 0 0 1
KIF1B 0 0 1 0 0 1
KIF1B, LOC126805614 0 0 1 0 0 1
KIF1C 0 0 1 0 0 1
KIF26A 0 0 1 0 0 1
KIF4A 0 0 1 0 0 1
KIF7 0 0 1 0 0 1
KIFBP 0 0 1 0 0 1
KIFBP, LOC130003959 0 1 0 0 0 1
KISS1R 0 0 1 0 0 1
KIT 1 0 0 0 0 1
KLF1, LOC130063673 0 0 1 0 0 1
KLHL7 1 0 0 0 0 1
KMT2D, LOC126861520 0 0 1 0 0 1
KMT5B 0 0 1 0 0 1
KRT10 1 0 0 0 0 1
KRT16 0 1 0 0 0 1
KRT5, LOC126861525 0 1 0 0 0 1
KRT9 1 0 0 0 0 1
LACC1 0 1 0 0 0 1
LAGE3, LOC130068876 0 0 1 0 0 1
LAMA5, LOC130066305 0 0 1 0 0 1
LARS1 0 0 1 0 0 1
LARS2 0 0 1 0 0 1
LCA5 0 0 1 0 0 1
LCAT 0 1 0 0 0 1
LDHD 0 0 1 0 0 1
LEMD3 0 0 1 0 0 1
LEPR 0 1 0 0 0 1
LGI3 0 1 0 0 0 1
LGI4 0 0 1 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 0 1
LIG1 0 0 1 0 0 1
LIG3 0 0 1 0 0 1
LIG4 0 0 1 0 0 1
LIMS2 0 1 0 0 0 1
LINS1 0 0 1 0 0 1
LIPE, LOC101930071 0 0 1 0 0 1
LIPH 0 1 0 0 0 1
LIPT2 0 0 1 0 0 1
LMBRD1 0 0 1 0 0 1
LMNA, LOC126805877 0 0 1 0 0 1
LMNB2 0 0 1 0 0 1
LMNB2, LOC130063065 0 0 1 0 0 1
LMOD3 0 1 0 0 0 1
LMX1A 0 0 1 0 0 1
LMX1B 0 0 1 0 0 1
LOC100287944, POLR3B 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC101927178, PPP2R3C 0 0 1 0 0 1
LOC101928525, MRPS2 0 0 1 0 0 1
LOC105371856, TANC2 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 1
LOC112533672, UNC13D 0 1 0 0 0 1
LOC114803468, MACF1 0 0 1 0 0 1
LOC114827850, MYL2 0 1 0 0 0 1
LOC121740638, TFAP2A 0 0 1 0 0 1
LOC122152296, USH2A 0 0 1 0 0 1
LOC124629354, PRPH, TROAP 0 1 0 0 0 1
LOC126805612, PIK3CD 0 0 1 0 0 1
LOC126805688, YARS1 0 0 1 0 0 1
LOC126806306, NPHP1 1 0 0 0 0 1
LOC126806424, TTN 0 1 0 0 0 1
LOC126859646, VARS2 0 0 1 0 0 1
LOC126860121, TRRAP 0 0 1 0 0 1
LOC126860970, POLR3A 0 1 0 0 0 1
LOC126861878, TTC5 0 1 0 0 0 1
LOC126861887, SUPT16H 0 0 1 0 0 1
LOC126861896, MYH6 0 0 1 0 0 1
LOC126862088, TRPM1 0 0 1 0 0 1
LOC126862130, TRPM7 0 0 1 0 0 1
LOC126862696, PIEZO2 0 1 0 0 0 1
LOC126862902, RYR1 0 0 1 0 0 1
LOC126862987, SEC23B 0 1 0 0 0 1
LOC126863160, NAGA 0 1 0 0 0 1
LOC126863256, WDR45 0 1 0 0 0 1
LOC128772343, SOX6 0 0 1 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 1
LOC129930616, MYSM1 0 0 1 0 0 1
LOC129931062, RNPC3 0 0 1 0 0 1
LOC129934069, SPR 0 0 1 0 0 1
LOC129934128, MOGS 0 0 1 0 0 1
LOC129935183, TTN 0 1 0 0 0 1
LOC129935594, PNKD 0 0 1 0 0 1
LOC129936713, UQCRC1 0 0 1 0 0 1
LOC129936730, NDUFAF3 0 1 0 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 1 0 0 1
LOC129996727, SLC17A5 0 0 1 0 0 1
LOC129997052, RSPH4A 0 0 1 0 0 1
LOC129997872, WIPI2 0 0 1 0 0 1
LOC130001338, PLEC 1 0 0 0 0 1
LOC130006797, ZPR1 0 0 1 0 0 1
LOC130008987, ORAI1 0 1 0 0 0 1
LOC130059554, MLYCD 0 0 1 0 0 1
LOC130059892, SERPINF1 0 0 1 0 0 1
LOC130060311, TTC19 0 0 1 0 0 1
LOC130060574, NEK8 0 0 1 0 0 1
LOC130062899, STK11 0 0 1 0 0 1
LOC130064279, SDHAF1 0 0 1 0 0 1
LOC130064467, SPTBN4 0 0 1 0 0 1
LOC130065345, PANK2 1 0 0 0 0 1
LOC130066806, TRAPPC10 0 0 1 0 0 1
LOC130067016, LZTR1 1 0 0 0 0 1
LOC130068747, SLC9A6 0 0 1 0 0 1
LOC132090059, PUS1 1 0 0 0 0 1
LOC340512, ZNF462 0 0 1 0 0 1
LRRC41, RAD54L 0 0 1 0 0 1
LRRK1 0 0 1 0 0 1
LSS 0 0 1 0 0 1
LTBP1 0 0 1 0 0 1
LURAP1L, TYRP1 0 0 1 0 0 1
LYRM7 0 1 0 0 0 1
MAF, WWOX 0 0 1 0 0 1
MAFA 0 0 1 0 0 1
MAG 0 1 0 0 0 1
MAGEL2 0 0 1 0 0 1
MALT1 0 0 1 0 0 1
MAMLD1 0 0 1 0 0 1
MAN2C1 0 0 1 0 0 1
MAP2 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAPKAPK3 0 0 1 0 0 1
MAPKBP1 0 0 1 0 0 1
MARS2 0 0 1 0 0 1
MASP1 0 1 0 0 0 1
MATR3 0 0 1 0 0 1
MBOAT7 0 1 0 0 0 1
MCIDAS 0 0 1 0 0 1
MCM3AP 0 0 1 0 0 1
MCOLN1 1 0 0 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MED17 0 0 1 0 0 1
MED25 0 0 1 0 0 1
MEN1 1 0 0 0 0 1
MERTK 0 0 1 0 0 1
METTL5 1 0 0 0 0 1
MFSD2A 0 0 1 0 0 1
MIA3 0 0 1 0 0 1
MIB1 0 0 1 0 0 1
MID1 0 0 1 0 0 1
MINPP1 1 0 0 0 0 1
MITF 0 0 1 0 0 1
MKKS 0 1 0 0 0 1
MLC1 0 0 1 0 0 1
MLPH 0 0 1 0 0 1
MMAB 1 0 0 0 0 1
MMAB, MVK 0 0 1 0 0 1
MMP13 0 0 1 0 0 1
MNS1, TEX9 0 0 1 0 0 1
MOCS2 0 1 0 0 0 1
MOGS 0 0 1 0 0 1
MPC1 0 0 1 0 0 1
MPLKIP 0 1 0 0 0 1
MPO 0 0 1 0 0 1
MRPL3 0 0 1 0 0 1
MRPS2 0 0 1 0 0 1
MRTFA 0 0 1 0 0 1
MSH3 0 0 1 0 0 1
MSRB3 1 0 0 0 0 1
MTM1 1 0 0 0 0 1
MTR 0 1 0 0 0 1
MTRR 0 1 0 0 0 1
MTSS2 0 0 1 0 0 1
MTX2 0 1 0 0 0 1
MUC5B 0 0 1 0 0 1
MUSK 0 0 1 0 0 1
MVD 1 0 0 0 0 1
MYCL, TRIT1 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
MYH3 0 0 1 0 0 1
MYO18B 0 1 0 0 0 1
MYO5B, SNHG22 0 0 1 0 0 1
MYO6 0 0 1 0 0 1
MYOD1 0 1 0 0 0 1
MYRF 0 0 1 0 0 1
MYSM1 0 0 1 0 0 1
NAA10 1 0 0 0 0 1
NAA15 0 0 1 0 0 1
NAGS 0 1 0 0 0 1
NBN 1 0 0 0 0 1
NCAPD2 0 1 0 0 0 1
NCAPD3 0 0 1 0 0 1
NCDN 0 0 1 0 0 1
NCR1, NLRP7 0 0 1 0 0 1
NCSTN 0 1 0 0 0 1
NDP 0 1 0 0 0 1
NDRG1 0 0 1 0 0 1
NDUFA10 0 1 0 0 0 1
NDUFA12 1 0 0 0 0 1
NDUFA9 0 1 0 0 0 1
NDUFAF5 0 0 1 0 0 1
NDUFS3 0 0 1 0 0 1
NDUFS4 0 1 0 0 0 1
NDUFV2 0 0 1 0 0 1
NEDD4L 0 0 1 0 0 1
NEK8 0 0 1 0 0 1
NEU1 0 1 0 0 0 1
NEXN 0 0 1 0 0 1
NF2 0 0 1 0 0 1
NFASC 0 0 1 0 0 1
NGLY1 1 0 0 0 0 1
NHS 0 1 0 0 0 1
NIPA1 1 0 0 0 0 1
NKAP 0 0 1 0 0 1
NKX2-5 0 1 0 0 0 1
NLGN4X 0 0 1 0 0 1
NLRP1 0 0 1 0 0 1
NNT 0 0 1 0 0 1
NOBOX 0 0 1 0 0 1
NOS3 0 0 1 0 0 1
NPHP1 1 0 0 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 0 0 1
NR1H4 0 0 1 0 0 1
NR2E3 0 1 0 0 0 1
NR2F1 0 0 1 0 0 1
NR4A2 0 0 1 0 0 1
NRXN1 0 0 1 0 0 1
NSD2 0 0 1 0 0 1
NTHL1 0 0 1 0 0 1
NTRK2 0 0 1 0 0 1
NUAK2 0 0 1 0 0 1
OAT 1 0 0 0 0 1
OGDH 0 0 1 0 0 1
OPA3 0 0 1 0 0 1
OPTN 0 0 1 0 0 1
OSGEP 0 0 1 0 0 1
OTOA 0 1 0 0 0 1
PACS1 0 0 1 0 0 1
PAFAH1B1 0 1 0 0 0 1
PAK1 0 0 1 0 0 1
PALLD 0 0 1 0 0 1
PARS2 0 0 1 0 0 1
PAX1 0 0 1 0 0 1
PAX6 1 0 0 0 0 1
PCDH12, RNF14 1 0 0 0 0 1
PCDH15 0 0 1 0 0 1
PCYT1A 0 0 1 0 0 1
PDE10A 0 0 1 0 0 1
PDE1C 0 0 1 0 0 1
PDE2A 0 0 1 0 0 1
PDE8B 0 0 1 0 0 1
PDGFB 0 0 1 0 0 1
PDGFRA 0 0 1 0 0 1
PDGFRB 0 0 1 0 0 1
PET100, STXBP2 0 0 1 0 0 1
PEX1 0 1 0 0 0 1
PEX12 0 0 1 0 0 1
PEX7 0 1 0 0 0 1
PGK1 0 0 1 0 0 1
PHF6 0 0 1 0 0 1
PHGDH 1 0 0 0 0 1
PI4KA 0 0 1 0 0 1
PIBF1 0 0 1 0 0 1
PIGM 1 0 0 0 0 1
PIGN 0 1 0 0 0 1
PIGQ 0 0 1 0 0 1
PIGV 0 0 1 0 0 1
PIK3CA 0 0 1 0 0 1
PISD 1 0 0 0 0 1
PJVK 0 1 0 0 0 1
PKP1 0 1 0 0 0 1
PLCB4 0 0 1 0 0 1
PLD1 0 0 1 0 0 1
PLEKHG3, SPTB 0 0 1 0 0 1
PLEKHM1 0 0 1 0 0 1
PLIN1 0 1 0 0 0 1
PLVAP 0 0 1 0 0 1
PMPCA 0 0 1 0 0 1
PMS1 0 0 1 0 0 1
PNKD 0 0 1 0 0 1
POLR1A 0 0 1 0 0 1
POMGNT1 0 1 0 0 0 1
POMGNT2 0 0 1 0 0 1
PPA2 0 1 0 0 0 1
PPM1D 0 0 1 0 0 1
PPOX 0 0 1 0 0 1
PPP1R21 0 1 0 0 0 1
PRDM16 0 0 1 0 0 1
PRDM5 0 0 1 0 0 1
PRG4, TPR 0 1 0 0 0 1
PRKACA 0 0 1 0 0 1
PRKAG2 0 0 1 0 0 1
PRKAR1B 0 0 1 0 0 1
PRKCG 0 0 1 0 0 1
PRKCSH 0 1 0 0 0 1
PRMT7 0 1 0 0 0 1
PROKR2 0 0 1 0 0 1
PROM1 0 0 1 0 0 1
PROS1 0 0 1 0 0 1
PRPF31 0 1 0 0 0 1
PRPH2 0 0 1 0 0 1
PRPS1 0 1 0 0 0 1
PRX 0 0 1 0 0 1
PSEN2 0 0 1 0 0 1
PSENEN 0 0 1 0 0 1
PSMB8 0 0 1 0 0 1
PSMD12 0 0 1 0 0 1
PTH 0 0 1 0 0 1
PTH1R 0 0 1 0 0 1
PTPN23 0 0 1 0 0 1
PTPRQ 0 0 1 0 0 1
PTS 1 0 0 0 0 1
PUM1 0 0 1 0 0 1
PURA 0 0 1 0 0 1
PYCR1 1 0 0 0 0 1
PYROXD1 0 0 1 0 0 1
QARS1 1 0 0 0 0 1
QDPR 0 1 0 0 0 1
QRSL1 0 0 1 0 0 1
RAB28 0 1 0 0 0 1
RAC3 0 0 1 0 0 1
RAD50 1 0 0 0 0 1
RAD50, TH2LCRR 0 0 1 0 0 1
RAD51 0 0 1 0 0 1
RAG2 0 0 1 0 0 1
RAI1 0 0 1 0 0 1
RALGAPA1 0 0 1 0 0 1
RANBP2 0 0 1 0 0 1
RAPSN 0 1 0 0 0 1
RARS1 0 1 0 0 0 1
RASGRP1 0 1 0 0 0 1
RASGRP2 1 0 0 0 0 1
RBM20 0 0 1 0 0 1
RDX 0 1 0 0 0 1
RELN, SLC26A5 0 0 1 0 0 1
REN 0 0 1 0 0 1
REPS2 0 0 1 0 0 1
RHBDF2 0 0 1 0 0 1
RIPK1 0 0 1 0 0 1
RIT1 0 0 1 0 0 1
RLIM 0 0 1 0 0 1
RNASEL 0 0 1 0 0 1
RNASET2 0 1 0 0 0 1
RNF13 0 0 1 0 0 1
RNF170 0 0 1 0 0 1
RNF2 0 0 1 0 0 1
RNF216 0 0 1 0 0 1
ROBO4 0 0 1 0 0 1
ROR2 0 1 0 0 0 1
RORB 0 0 1 0 0 1
RORC 0 1 0 0 0 1
RPA1 0 0 1 0 0 1
RPGR 0 0 1 0 0 1
RPGRIP1 0 1 0 0 0 1
RPL13 0 0 1 0 0 1
RPL3L 0 0 1 0 0 1
RPS6KA3 0 1 0 0 0 1
RPSA 0 0 1 0 0 1
RRAS2 0 0 1 0 0 1
RS1 1 0 0 0 0 1
RSPO1 0 1 0 0 0 1
SAG 1 0 0 0 0 1
SALL4 0 0 1 0 0 1
SAMHD1 0 0 1 0 0 1
SAR1B 0 0 1 0 0 1
SASS6 0 1 0 0 0 1
SBF2 0 0 1 0 0 1
SCARB2 0 0 1 0 0 1
SCN10A 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCN9A 0 1 0 0 0 1
SCNN1A 0 0 1 0 0 1
SCYL2 0 1 0 0 0 1
SDCCAG8 0 1 0 0 0 1
SDHB 0 0 1 0 0 1
SDHC 0 0 1 0 0 1
SDR9C7 0 0 1 0 0 1
SEMA6B 0 0 1 0 0 1
SERAC1 0 0 1 0 0 1
SERPINB8 0 1 0 0 0 1
SERPINF1 0 0 1 0 0 1
SERPING1 1 0 0 0 0 1
SERPINH1 0 0 1 0 0 1
SET 0 0 1 0 0 1
SF3B2 0 0 1 0 0 1
SFTPB 0 1 0 0 0 1
SFTPC 1 0 0 0 0 1
SGO1 1 0 0 0 0 1
SHH 0 0 1 0 0 1
SHMT2 0 0 1 0 0 1
SHOC2 1 0 0 0 0 1
SHROOM4 0 0 1 0 0 1
SKI 0 0 1 0 0 1
SLC12A2 0 0 1 0 0 1
SLC13A3 0 0 1 0 0 1
SLC18A2 0 0 1 0 0 1
SLC19A2 0 1 0 0 0 1
SLC19A3 1 0 0 0 0 1
SLC20A2 0 0 1 0 0 1
SLC25A19 0 0 1 0 0 1
SLC25A21 0 0 1 0 0 1
SLC25A24 0 0 1 0 0 1
SLC25A38 0 1 0 0 0 1
SLC25A46 0 0 1 0 0 1
SLC26A5 0 0 1 0 0 1
SLC30A10 0 0 1 0 0 1
SLC30A9 0 0 1 0 0 1
SLC35C1 0 0 1 0 0 1
SLC35D1 0 0 1 0 0 1
SLC39A7 0 0 1 0 0 1
SLC45A2 0 1 0 0 0 1
SLC46A1 0 1 0 0 0 1
SLC52A1 0 0 1 0 0 1
SLC5A1 0 0 1 0 0 1
SLC5A5 0 1 0 0 0 1
SLC6A20 0 0 1 0 0 1
SLC6A5 0 0 1 0 0 1
SLC9A7 0 0 1 0 0 1
SLCO1B1 0 0 1 0 0 1
SLCO1B3, SLCO1B3-SLCO1B7 0 0 1 0 0 1
SLFN14 0 0 1 0 0 1
SMAD6 0 0 1 0 0 1
SMARCC2 0 0 1 0 0 1
SMARCD2 0 1 0 0 0 1
SMARCE1 0 0 1 0 0 1
SMC3 0 0 1 0 0 1
SMCHD1 0 0 1 0 0 1
SMN1 0 0 1 0 0 1
SMPX 0 0 1 0 0 1
SNRNP200 0 0 1 0 0 1
SNX10 0 1 0 0 0 1
SOHLH1 0 0 1 0 0 1
SORD 1 0 0 0 0 1
SOX11 0 0 1 0 0 1
SOX6 0 0 1 0 0 1
SP110 0 1 0 0 0 1
SPART 0 1 0 0 0 1
SPG21 1 0 0 0 0 1
SPIDR 0 0 1 0 0 1
SPINK1 1 0 0 0 0 1
SPR 0 1 0 0 0 1
SPRED1 0 0 1 0 0 1
SRC 0 0 1 0 0 1
SRP54 1 0 0 0 0 1
SRPX2 0 0 1 0 0 1
SSR4 0 0 1 0 0 1
ST3GAL3 0 1 0 0 0 1
ST3GAL5 0 1 0 0 0 1
STAMBP 0 0 1 0 0 1
STARD9 0 0 1 0 0 1
STAT2 0 0 1 0 0 1
STING1 0 0 1 0 0 1
SUFU 0 0 1 0 0 1
SUGCT 0 1 0 0 0 1
SYN1 0 0 1 0 0 1
SYNJ1 0 0 1 0 0 1
SYP 0 0 1 0 0 1
SYT1 0 0 1 0 0 1
TACR3 0 0 1 0 0 1
TAMM41 0 0 1 0 0 1
TAP2 0 0 1 0 0 1
TBC1D2B 0 0 1 0 0 1
TBX3 0 0 1 0 0 1
TBX4 0 0 1 0 0 1
TCN2 0 1 0 0 0 1
TCTN3 0 0 1 0 0 1
TECPR2 0 1 0 0 0 1
TF 0 0 1 0 0 1
TFAM 0 1 0 0 0 1
TFG 0 1 0 0 0 1
TGDS 0 0 1 0 0 1
TGFBR1 0 0 1 0 0 1
THBD 0 0 1 0 0 1
THOC2 0 0 1 0 0 1
THRB 0 0 1 0 0 1
TIMMDC1 0 1 0 0 0 1
TINF2 0 0 1 0 0 1
TLR8 0 0 1 0 0 1
TMEM216 0 0 1 0 0 1
TMEM240 0 0 1 0 0 1
TMEM260 0 0 1 0 0 1
TMEM53 0 1 0 0 0 1
TMEM70 1 0 0 0 0 1
TMPRSS3 1 0 0 0 0 1
TNFRSF11A 0 0 1 0 0 1
TNFRSF13B 0 0 1 0 0 1
TNFSF11 0 0 1 0 0 1
TNNC1 0 0 1 0 0 1
TNNT3 0 0 1 0 0 1
TOE1 0 0 1 0 0 1
TOR1AIP1 0 1 0 0 0 1
TP53RK 0 0 1 0 0 1
TPI1 0 0 1 0 0 1
TPK1 0 0 1 0 0 1
TPM1 0 1 0 0 0 1
TPO 1 0 0 0 0 1
TPRN 1 0 0 0 0 1
TRAF3IP1 0 1 0 0 0 1
TRAPPC4 0 0 1 0 0 1
TREM2 0 1 0 0 0 1
TRIM2 0 0 1 0 0 1
TRIM37 0 0 1 0 0 1
TRIOBP 0 0 1 0 0 1
TRIP11 0 0 1 0 0 1
TRIP4 0 1 0 0 0 1
TRPC3 0 0 1 0 0 1
TRPM3 0 0 1 0 0 1
TRPM7 0 0 1 0 0 1
TRPV6 1 0 0 0 0 1
TSEN34 0 0 1 0 0 1
TTBK2 0 0 1 0 0 1
TTR 0 1 0 0 0 1
TUBA4A 0 0 1 0 0 1
TUBB4A 0 0 1 0 0 1
TUBG1 0 1 0 0 0 1
TWNK 0 1 0 0 0 1
TYMP 0 1 0 0 0 1
UBA1 0 0 1 0 0 1
UBE3B 0 1 0 0 0 1
UBQLN2 0 0 1 0 0 1
UGDH 0 0 1 0 0 1
UGT1A1 0 0 1 0 0 1
UROS 0 0 1 0 0 1
USH1C 0 0 1 0 0 1
VANGL2 0 0 1 0 0 1
VMA21 0 0 1 0 0 1
VPS16 0 0 1 0 0 1
VSX2 0 0 1 0 0 1
WARS1 0 0 1 0 0 1
WARS2 0 0 1 0 0 1
WASF1 0 0 1 0 0 1
WBP11 1 0 0 0 0 1
WDFY3 0 0 1 0 0 1
WDPCP 0 1 0 0 0 1
WDR1 0 0 1 0 0 1
WDR11 0 0 1 0 0 1
WDR36 0 1 0 0 0 1
WDR4 0 1 0 0 0 1
WDR72 0 1 0 0 0 1
WNK1 0 0 1 0 0 1
WNK4 0 0 1 0 0 1
WNT1 1 0 0 0 0 1
XPNPEP3 0 0 1 0 0 1
XRCC4 1 0 0 0 0 1
XYLT1 0 0 1 0 0 1
YARS2 0 0 1 0 0 1
YIF1B 0 0 1 0 0 1
ZAP70 0 0 1 0 0 1
ZBTB18 0 0 1 0 0 1
ZBTB24 0 1 0 0 0 1
ZDHHC9 0 0 1 0 0 1
ZFYVE19 0 1 0 0 0 1
ZIC3 0 0 1 0 0 1
ZMIZ1 0 0 1 0 0 1
ZMPSTE24 1 0 0 0 0 1
ZNF341 0 0 1 0 0 1
ZNF407 0 0 1 0 0 1
ZNF699 0 0 1 0 0 1
ZP3 0 0 1 0 0 1
ZPR1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 2507
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 4 5 57 0 0 66
Wilson disease 17 17 19 0 0 53
Cystic fibrosis 19 14 10 0 0 43
Breast-ovarian cancer, familial, susceptibility to, 1 23 5 14 0 0 42
Breast-ovarian cancer, familial, susceptibility to, 2 18 4 17 0 0 39
Recessive dystrophic epidermolysis bullosa 8 16 14 0 0 38
Mucopolysaccharidosis, MPS-IV-A 12 10 13 0 0 35
Ataxia-telangiectasia syndrome 5 14 13 0 0 32
Severe myoclonic epilepsy in infancy 8 8 15 0 0 31
Central core myopathy 5 3 22 0 0 30
Polycystic kidney disease 4 5 4 21 0 0 30
Duchenne muscular dystrophy 14 11 4 0 0 29
Autosomal recessive limb-girdle muscular dystrophy type 2B 4 13 11 0 0 28
Developmental and epileptic encephalopathy, 11 2 4 21 0 0 27
Neurofibromatosis, type 1 16 11 0 0 0 27
Polycystic kidney disease, adult type 3 7 17 0 0 27
Autosomal recessive limb-girdle muscular dystrophy type 2A 7 9 10 0 0 26
Fanconi anemia complementation group A 8 8 10 0 0 26
Hereditary spastic paraplegia 11 8 7 11 0 0 26
Hereditary spherocytosis type 1 1 10 10 0 0 21
Glycogen storage disease type III 4 9 7 0 0 20
Hereditary spherocytosis type 2 1 7 12 0 0 20
Lynch syndrome 1 5 4 11 0 0 20
Niemann-Pick disease, type C1 4 10 6 0 0 20
Epilepsy, familial focal, with variable foci 1 3 2 14 0 0 19
Metachromatic leukodystrophy 7 5 7 0 0 19
Ullrich congenital muscular dystrophy 1A 2 6 11 0 0 19
Rett syndrome 12 2 4 0 0 18
Developmental and epileptic encephalopathy, 42 2 0 15 0 0 17
Generalized epilepsy with febrile seizures plus, type 2 4 2 11 0 0 17
Lynch syndrome 5 1 0 16 0 0 17
Progressive familial intrahepatic cholestasis type 2 2 6 9 0 0 17
Tuberous sclerosis 2 6 8 3 0 0 17
X-linked Alport syndrome 4 9 4 0 0 17
Developmental and epileptic encephalopathy, 7 6 3 7 0 0 16
Finnish congenital nephrotic syndrome 3 5 8 0 0 16
Hereditary factor VIII deficiency disease 2 8 6 0 0 16
Colorectal cancer, hereditary nonpolyposis, type 2 9 1 5 0 0 15
Combined immunodeficiency due to LRBA deficiency 1 6 8 0 0 15
Congenital myotonia, autosomal recessive form 5 5 5 0 0 15
Hereditary pancreatitis 7 0 8 0 0 15
Kabuki syndrome 1 2 3 10 0 0 15
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 15 0 0 15
Bethlem myopathy 1A 1 3 10 0 0 14
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 4 10 0 0 14
Glutaric aciduria, type 1 6 1 7 0 0 14
Marfan syndrome 4 6 4 0 0 14
Nemaline myopathy 2 1 7 6 0 0 14
Pigmentary pallidal degeneration 1 5 8 0 0 14
Sotos syndrome 2 7 5 0 0 14
Chorea-acanthocytosis 2 9 2 0 0 13
Developmental and epileptic encephalopathy, 64 1 0 12 0 0 13
Galactosylceramide beta-galactosidase deficiency 4 7 2 0 0 13
Glycogen storage disease, type VI 2 5 6 0 0 13
Merosin deficient congenital muscular dystrophy 2 5 6 0 0 13
Muscular dystrophy, limb-girdle, autosomal recessive 23 3 5 5 0 0 13
Propionic acidemia 3 1 9 0 0 13
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 0 3 10 0 0 13
Charlevoix-Saguenay spastic ataxia 1 4 7 0 0 12
Combined immunodeficiency due to DOCK8 deficiency 2 4 6 0 0 12
Developmental and epileptic encephalopathy, 14 1 3 8 0 0 12
Familial adenomatous polyposis 1 3 2 7 0 0 12
GNE myopathy 4 3 5 0 0 12
Infantile GM1 gangliosidosis 5 4 3 0 0 12
Primary ciliary dyskinesia 3 2 2 8 0 0 12
Primary ciliary dyskinesia 5 0 3 9 0 0 12
Adrenoleukodystrophy 4 5 2 0 0 11
Amyotrophic lateral sclerosis type 4 0 0 11 0 0 11
Autosomal recessive congenital ichthyosis 1 4 4 3 0 0 11
Autosomal recessive limb-girdle muscular dystrophy type 2E 4 5 2 0 0 11
Beta-thalassemia HBB/LCRB 11 0 0 0 0 11
Biotinidase deficiency 5 4 2 0 0 11
Charcot-Marie-Tooth disease type 4C 4 5 2 0 0 11
Developmental and epileptic encephalopathy, 27 1 0 10 0 0 11
Developmental and epileptic encephalopathy, 4 3 3 5 0 0 11
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 4 7 0 0 11
Hypercholesterolemia, familial, 1 5 3 3 0 0 11
Leukoencephalopathy with vanishing white matter 1 2 3 6 0 0 11
Mucopolysaccharidosis, MPS-II 3 3 5 0 0 11
Mucopolysaccharidosis, MPS-III-A 3 4 4 0 0 11
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 11 0 0 11
Noonan syndrome 1 10 0 1 0 0 11
O'Donnell-Luria-Rodan syndrome 0 1 10 0 0 11
Rubinstein-Taybi syndrome due to CREBBP mutations 0 5 6 0 0 11
Tay-Sachs disease 4 1 6 0 0 11
Alagille syndrome due to a JAG1 point mutation 1 6 3 0 0 10
Autosomal recessive Alport syndrome 2 4 4 0 0 10
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 10 0 0 10
Colorectal cancer, susceptibility to, 12 0 1 9 0 0 10
Developmental and epileptic encephalopathy 6B 0 2 8 0 0 10
Developmental and epileptic encephalopathy 94 0 1 9 0 0 10
Developmental and epileptic encephalopathy, 13 0 1 9 0 0 10
Developmental and epileptic encephalopathy, 18 0 4 6 0 0 10
Developmental and epileptic encephalopathy, 2 1 2 7 0 0 10
Developmental and epileptic encephalopathy, 46 0 0 10 0 0 10
Developmental and epileptic encephalopathy, 9 2 1 7 0 0 10
Developmental delay with or without dysmorphic facies and autism 0 0 10 0 0 10
Dubin-Johnson syndrome 1 6 3 0 0 10
Dyskeratosis congenita, autosomal recessive 5 1 0 9 0 0 10
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 6 4 0 0 10
Infantile neuroaxonal dystrophy 3 2 5 0 0 10
Intellectual disability, autosomal dominant 13 0 2 8 0 0 10
Intellectual disability, autosomal dominant 52 0 0 10 0 0 10
Junctional epidermolysis bullosa gravis of Herlitz 2 8 0 0 0 10
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 10 0 0 10
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 10 0 0 10
Primary hyperoxaluria, type I 7 3 0 0 0 10
Progressive familial intrahepatic cholestasis type 3 2 3 5 0 0 10
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 8 0 0 9
Alstrom syndrome 0 6 3 0 0 9
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 8 0 1 0 0 9
Autosomal recessive nonsyndromic hearing loss 3 0 2 7 0 0 9
CHARGE syndrome 2 1 6 0 0 9
Developmental and epileptic encephalopathy, 69 0 0 9 0 0 9
Developmental delay, impaired speech, and behavioral abnormalities 0 0 9 0 0 9
Familial hypokalemia-hypomagnesemia 3 5 1 0 0 9
Global developmental delay with speech and behavioral abnormalities 0 1 8 0 0 9
Glycogen storage disease, type II 6 3 0 0 0 9
Hypertrophic cardiomyopathy 4 0 4 5 0 0 9
Intellectual developmental disorder, autosomal dominant 64 0 0 9 0 0 9
Intellectual disability, autosomal dominant 45 0 0 9 0 0 9
Junctional epidermolysis bullosa, non-Herlitz type 3 3 3 0 0 9
Koolen-de Vries syndrome 1 2 6 0 0 9
Microcephaly 5, primary, autosomal recessive 0 7 2 0 0 9
Mowat-Wilson syndrome 0 1 8 0 0 9
Phenylketonuria 6 3 0 0 0 9
Thyroid dyshormonogenesis 6 3 2 4 0 0 9
Tyrosinemia type I 3 3 3 0 0 9
3M syndrome 2 2 1 5 0 0 8
Acute intermittent porphyria 3 1 4 0 0 8
Arthrogryposis multiplex congenita 6 0 3 5 0 0 8
Asphyxiating thoracic dystrophy 3 0 4 4 0 0 8
Autosomal dominant Alport syndrome 1 0 7 0 0 8
Autosomal recessive spinocerebellar ataxia 14 0 1 7 0 0 8
Bifunctional peroxisomal enzyme deficiency 0 3 5 0 0 8
Bilateral frontoparietal polymicrogyria 2 3 3 0 0 8
Breast-ovarian cancer, familial, susceptibility to, 4 3 0 5 0 0 8
Brugada syndrome 1 0 0 8 0 0 8
Charcot-Marie-Tooth disease type 2A2 2 2 4 0 0 8
Classic homocystinuria 1 3 4 0 0 8
Coffin-Siris syndrome 1 0 3 5 0 0 8
Congenital multicore myopathy with external ophthalmoplegia 1 1 6 0 0 8
Congenital myasthenic syndrome 8 0 0 8 0 0 8
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 8 0 0 8
Developmental and epileptic encephalopathy, 31A 1 1 6 0 0 8
Donnai-Barrow syndrome 0 0 8 0 0 8
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 1 7 0 0 8
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 8 0 0 8
Glomerulopathy with fibronectin deposits 2 0 0 8 0 0 8
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 8 0 0 8
Intellectual disability, autosomal dominant 43 1 0 7 0 0 8
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 8 0 0 8
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 7 0 0 8
Landau-Kleffner syndrome 0 0 8 0 0 8
Lissencephaly 9 with complex brainstem malformation 0 0 8 0 0 8
Maple syrup urine disease 2 3 3 0 0 8
Mitochondrial complex 1 deficiency, nuclear type 4 2 4 2 0 0 8
Moyamoya disease 2 0 0 7 1 0 8
Neurodegeneration with brain iron accumulation 2B 2 3 3 0 0 8
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 8 0 0 8
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 8 0 0 8
Oculocutaneous albinism type 1A 3 1 4 0 0 8
Osteogenesis imperfecta type 8 2 5 1 0 0 8
Polyglandular autoimmune syndrome, type 1 1 2 5 0 0 8
Pyruvate kinase deficiency of red cells 3 3 2 0 0 8
Renal tubular dysgenesis of genetic origin 0 5 3 0 0 8
Rett syndrome, congenital variant 1 6 1 0 0 8
Severe early-childhood-onset retinal dystrophy 5 2 1 0 0 8
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 6 2 0 0 8
Stromme syndrome 0 6 2 0 0 8
Usher syndrome type 2A 2 3 3 0 0 8
Vasculitis due to ADA2 deficiency 3 2 3 0 0 8
X-linked intellectual disability, Cantagrel type 1 0 7 0 0 8
ZTTK syndrome 0 2 6 0 0 8
Agammaglobulinemia 8, autosomal dominant 0 0 7 0 0 7
Autosomal recessive DOPA responsive dystonia 0 3 4 0 0 7
Autosomal recessive limb-girdle muscular dystrophy type 2D 2 2 3 0 0 7
Bethlem myopathy 2 0 0 7 0 0 7
Cholestasis, progressive familial intrahepatic, 4 0 4 3 0 0 7
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 4 3 0 0 7
Combined oxidative phosphorylation deficiency 35 0 4 3 0 0 7
Congenital contractural arachnodactyly 0 0 7 0 0 7
DYRK1A-related intellectual disability syndrome 3 1 3 0 0 7
Developmental and epileptic encephalopathy, 26 1 0 6 0 0 7
Developmental and epileptic encephalopathy, 66 0 0 7 0 0 7
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 1 6 0 0 7
Epidermolysis bullosa, junctional 4, intermediate 0 5 2 0 0 7
Familial Mediterranean fever 1 0 6 0 0 7
Familial hemophagocytic lymphohistiocytosis 2 3 1 3 0 0 7
Febrile seizures, familial, 4 0 0 7 0 0 7
Global developmental delay with or without impaired intellectual development 0 1 6 0 0 7
Glucose-6-phosphate transport defect 3 2 2 0 0 7
Glycine encephalopathy 1 0 4 3 0 0 7
Glycogen storage disease IXc 2 1 4 0 0 7
Kleefstra syndrome 2 0 1 6 0 0 7
Li-Fraumeni syndrome 1 6 1 0 0 0 7
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2 1 4 0 0 7
Microcephalic osteodysplastic primordial dwarfism type II 0 3 4 0 0 7
Nephropathic cystinosis 3 2 2 0 0 7
Nephrotic syndrome, type 2 4 3 0 0 0 7
Nephrotic syndrome, type 3 0 3 4 0 0 7
Neuronal ceroid lipofuscinosis 2 2 2 3 0 0 7
Neuronal ceroid lipofuscinosis 7 1 4 2 0 0 7
Niemann-Pick disease, type A 1 4 2 0 0 7
Ornithine carbamoyltransferase deficiency 0 0 7 0 0 7
Parkinson disease, late-onset 1 0 6 0 0 7
Platelet-type bleeding disorder 10 0 6 1 0 0 7
Primary ciliary dyskinesia 7 0 3 4 0 0 7
Progressive familial intrahepatic cholestasis type 1 2 0 5 0 0 7
Sandhoff disease 2 1 4 0 0 7
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 6 0 0 7
3M syndrome 1 0 3 3 0 0 6
Alzheimer disease 9 0 0 6 0 0 6
Autosomal recessive ataxia, Beauce type 0 4 2 0 0 6
Autosomal recessive congenital ichthyosis 10 1 4 1 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 2 4 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 6 0 0 6
Autosomal recessive nonsyndromic hearing loss 4 2 2 2 0 0 6
Bartter disease type 3 1 2 3 0 0 6
Charcot-Marie-Tooth disease axonal type 2T 0 2 4 0 0 6
Cobalamin C disease 3 1 2 0 0 6
Cockayne syndrome type 2 5 1 0 0 0 6
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 5 0 0 6
Crigler-Najjar syndrome type 1 4 0 2 0 0 6
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 1 2 0 0 6
Developmental and epileptic encephalopathy, 1 0 2 4 0 0 6
Developmental and epileptic encephalopathy, 30 0 0 6 0 0 6
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 2 4 0 0 6
Endometrial carcinoma 0 1 5 0 0 6
Ethylmalonic encephalopathy 2 1 3 0 0 6
Fanconi anemia complementation group I 2 1 3 0 0 6
Griscelli syndrome type 2 2 1 3 0 0 6
Hemolytic anemia due to glucophosphate isomerase deficiency 1 3 2 0 0 6
Hereditary factor XI deficiency disease 1 3 2 0 0 6
Hereditary spastic paraplegia 35 1 2 3 0 0 6
Hereditary spastic paraplegia 47 0 3 3 0 0 6
Hypertrophic cardiomyopathy 14 0 0 6 0 0 6
Hypomyelinating leukodystrophy 11 1 1 4 0 0 6
Intellectual disability, autosomal dominant 1 0 1 5 0 0 6
Intellectual disability, autosomal dominant 5 0 1 5 0 0 6
Intellectual disability, autosomal dominant 9 1 0 5 0 0 6
Joubert syndrome 5 3 1 2 0 0 6
Leukocyte adhesion deficiency 1 0 5 1 0 0 6
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 1 1 4 0 0 6
Lowe syndrome 2 4 0 0 0 6
Lynch syndrome 4 0 1 5 0 0 6
MEGF8-related Carpenter syndrome 0 0 6 0 0 6
Menke-Hennekam syndrome 1 0 0 6 0 0 6
Menkes kinky-hair syndrome 0 0 6 0 0 6
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 2 3 0 0 6
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 4 1 0 0 6
Mitochondrial complex IV deficiency, nuclear type 1 5 0 1 0 0 6
Muir-Torré syndrome 2 2 2 0 0 6
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 6 0 0 6
Noonan syndrome 10 2 1 3 0 0 6
Noonan syndrome 4 4 0 2 0 0 6
Osteogenesis imperfecta, perinatal lethal 3 2 1 0 0 6
Renal coloboma syndrome 2 2 2 0 0 6
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 1 2 3 0 0 6
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 0 6 0 0 6
Tuberous sclerosis 1 1 4 1 0 0 6
Tyrosinase-positive oculocutaneous albinism 2 2 2 0 0 6
von Willebrand disease type 2 1 1 4 0 0 6
Alkaptonuria 2 1 2 0 0 5
Arrhythmogenic right ventricular dysplasia 9 1 2 2 0 0 5
Arthrogryposis multiplex congenita 3, myogenic type 0 1 4 0 0 5
Autosomal dominant Parkinson disease 8 0 0 5 0 0 5
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 5 0 0 5
Autosomal recessive early-onset Parkinson disease 23 0 1 4 0 0 5
Autosomal recessive early-onset Parkinson disease 6 0 4 1 0 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 3 2 0 0 5
Autosomal recessive nonsyndromic hearing loss 18B 0 1 4 0 0 5
Autosomal recessive nonsyndromic hearing loss 1A 3 2 0 0 0 5
Autosomal recessive osteopetrosis 4 0 2 3 0 0 5
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 1 0 4 0 0 5
Bardet-Biedl syndrome 2 1 1 3 0 0 5
Beck-Fahrner syndrome 0 0 5 0 0 5
Brain small vessel disease 1 with or without ocular anomalies 2 1 2 0 0 5
Cardiac arrhythmia, ankyrin-B-related 0 0 5 0 0 5
Cerebroretinal microangiopathy with calcifications and cysts 1 0 2 3 0 0 5
Ceroid lipofuscinosis, neuronal, 6A 1 2 2 0 0 5
Charcot-Marie-Tooth disease X-linked dominant 1 2 0 3 0 0 5
Charcot-Marie-Tooth disease recessive intermediate C 0 1 4 0 0 5
Cholestasis, progressive familial intrahepatic, 10 0 0 5 0 0 5
Cohen syndrome 1 2 2 0 0 5
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 4 0 0 5
Cornelia de Lange syndrome 1 0 0 5 0 0 5
Crigler-Najjar syndrome, type II 2 1 2 0 0 5
Cystinuria 1 1 3 0 0 5
Deficiency of acetyl-CoA acetyltransferase 2 1 2 0 0 5
Developmental and epileptic encephalopathy, 23 0 2 3 0 0 5
Developmental and epileptic encephalopathy, 5 0 1 4 0 0 5
Developmental and epileptic encephalopathy, 62 0 1 4 0 0 5
Developmental and epileptic encephalopathy, 67 0 0 5 0 0 5
Developmental delay with autism spectrum disorder and gait instability 0 0 5 0 0 5
Developmental delay with variable neurologic and brain abnormalities 0 0 5 0 0 5
Dilated cardiomyopathy 1JJ 0 0 5 0 0 5
Dyskeratosis congenita, autosomal dominant 2 1 0 4 0 0 5
Ellis-van Creveld syndrome 2 3 0 0 0 5
Epidermolysis bullosa pruriginosa 3 0 2 0 0 5
FG syndrome 4 0 0 5 0 0 5
Familial hemophagocytic lymphohistiocytosis 3 1 2 2 0 0 5
Familial juvenile hyperuricemic nephropathy type 1 0 0 5 0 0 5
Focal segmental glomerulosclerosis 2 0 2 3 0 0 5
GNPTG-mucolipidosis 1 1 3 0 0 5
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 5 0 0 5
Glanzmann thrombasthenia 1 3 1 1 0 0 5
Glanzmann thrombasthenia 2 3 1 1 0 0 5
Glycogen storage disease IXa1 0 3 2 0 0 5
Glycogen storage disease IXb 1 3 1 0 0 5
Hereditary insensitivity to pain with anhidrosis 1 3 1 0 0 5
Hereditary spastic paraplegia 30 1 0 4 0 0 5
Hereditary spastic paraplegia 7 2 1 2 0 0 5
Hereditary spastic paraplegia 8 0 0 5 0 0 5
Hurler syndrome 1 2 2 0 0 5
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 3 1 0 0 5
Hyperinsulinemic hypoglycemia, familial, 1 2 1 2 0 0 5
Hyperlipoproteinemia, type I 2 2 1 0 0 5
Hypertrophic cardiomyopathy 1 0 1 4 0 0 5
Immunodeficiency 14 0 1 4 0 0 5
Immunodeficiency 36 0 0 5 0 0 5
Immunoglobulin-mediated membranoproliferative glomerulonephritis 0 1 4 0 0 5
Intellectual developmental disorder 61 0 0 5 0 0 5
Intellectual developmental disorder with seizures and language delay 0 1 4 0 0 5
Intellectual disability, X-linked 102 1 3 1 0 0 5
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 5 0 0 5
Joubert syndrome 17 2 1 2 0 0 5
KBG syndrome 2 0 3 0 0 5
Larsen syndrome 0 0 5 0 0 5
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2 1 2 0 0 5
Li-Ghorbani-Weisz-Hubshman syndrome 0 0 5 0 0 5
Long QT syndrome 1 3 0 2 0 0 5
Lysinuric protein intolerance 3 1 1 0 0 5
MEHMO syndrome 0 0 5 0 0 5
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 0 4 0 0 5
Medium-chain acyl-coenzyme A dehydrogenase deficiency 3 0 2 0 0 5
Mitochondrial DNA depletion syndrome, myopathic form 1 2 2 0 0 5
Mitochondrial complex 1 deficiency, nuclear type 5 0 0 5 0 0 5
Miyoshi muscular dystrophy 1 1 3 1 0 0 5
Mucolipidosis type II 2 0 3 0 0 5
Mucopolysaccharidosis type 6 2 1 2 0 0 5
Nephronophthisis 4 0 2 3 0 0 5
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 5 0 0 5
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 5 0 0 5
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 4 0 0 5
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 1 4 0 0 5
Neuronal ceroid lipofuscinosis 5 0 3 2 0 0 5
Niemann-Pick disease, type B 3 1 1 0 0 5
Noonan syndrome 2 2 2 1 0 0 5
Osteogenesis imperfecta type I 2 2 1 0 0 5
Peroxisome biogenesis disorder 4A (Zellweger) 0 3 2 0 0 5
Peutz-Jeghers syndrome 0 1 4 0 0 5
Pierson syndrome 0 4 1 0 0 5
Pontocerebellar hypoplasia type 3 0 0 5 0 0 5
Progressive pseudorheumatoid dysplasia 2 3 0 0 0 5
Pyruvate dehydrogenase E1-alpha deficiency 1 1 3 0 0 5
Renal cysts and diabetes syndrome 1 0 4 0 0 5
Renal tubular acidosis with progressive nerve deafness 0 3 2 0 0 5
Retinitis pigmentosa 39 0 2 3 0 0 5
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2 2 1 0 0 5
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 0 1 4 0 0 5
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 5 0 0 5
Spinocerebellar ataxia type 5 0 0 5 0 0 5
Succinate-semialdehyde dehydrogenase deficiency 0 3 2 0 0 5
Thrombocythemia 3 0 0 5 0 0 5
Type 2 diabetes mellitus 0 0 5 0 0 5
Usher syndrome type 1 3 1 1 0 0 5
Vitamin D-dependent rickets, type 1A 1 4 0 0 0 5
Weiss-Kruszka syndrome 0 1 4 0 0 5
Wiskott-Aldrich syndrome 3 1 1 0 0 5
X-linked agammaglobulinemia 1 2 2 0 0 5
Abortive cerebellar ataxia 1 1 2 0 0 4
Achromatopsia 2 2 2 0 0 0 4
Amyotrophic lateral sclerosis type 1 1 2 1 0 0 4
Anemia, congenital dyserythropoietic, type 1a 1 1 2 0 0 4
Angelman syndrome 1 2 1 0 0 4
Ataxia-pancytopenia syndrome 0 0 4 0 0 4
Ataxia-telangiectasia-like disorder 1 1 0 3 0 0 4
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 2 1 1 0 0 4
Autosomal recessive congenital ichthyosis 4A 1 1 2 0 0 4
Autosomal recessive distal spinal muscular atrophy 1 1 2 1 0 0 4
Autosomal recessive nonsyndromic hearing loss 12 0 0 4 0 0 4
Autosomal recessive osteopetrosis 1 1 1 2 0 0 4
Autosomal recessive spastic paraplegia type 78 0 0 4 0 0 4
Bartter disease type 2 2 0 2 0 0 4
Becker muscular dystrophy 1 0 3 0 0 4
Blau syndrome 1 0 3 0 0 4
Bloom syndrome 2 1 1 0 0 4
Breast-ovarian cancer, familial, susceptibility to, 3 0 0 4 0 0 4
Carnitine palmitoyl transferase 1A deficiency 0 0 4 0 0 4
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 4 0 0 4
Charcot-Marie-Tooth disease axonal type 2P 1 1 2 0 0 4
Charcot-Marie-Tooth disease axonal type 2X 1 1 2 0 0 4
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 4 0 0 4
Cholestanol storage disease 4 0 0 0 0 4
Chédiak-Higashi syndrome 0 2 2 0 0 4
Ciliary dyskinesia, primary, 40 0 1 3 0 0 4
Citrullinemia type I 2 1 1 0 0 4
Clark-Baraitser syndrome 0 0 4 0 0 4
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 1 1 0 0 4
Combined oxidative phosphorylation deficiency 55 0 2 2 0 0 4
Complex cortical dysplasia with other brain malformations 2 1 0 3 0 0 4
Congenital bile acid synthesis defect 2 0 3 1 0 0 4
Congenital dyserythropoietic anemia, type II 0 2 2 0 0 4
Congenital factor VII deficiency 0 1 3 0 0 4
Congenital generalized lipodystrophy type 1 1 3 0 0 0 4
Congenital lipoid adrenal hyperplasia due to STAR deficency 2 1 1 0 0 4
Congenital microvillous atrophy 0 1 3 0 0 4
Congenital myopathy 4A, autosomal dominant 1 1 2 0 0 4
Cortical dysplasia, complex, with other brain malformations 10 0 0 4 0 0 4
Deficiency of alpha-mannosidase 0 1 3 0 0 4
Desmin-related myofibrillar myopathy 2 1 1 0 0 4
Developmental and epileptic encephalopathy 98 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 12 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 24 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 29 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 36 1 0 3 0 0 4
Developmental and epileptic encephalopathy, 41 0 0 4 0 0 4
Diamond-Blackfan anemia 1 1 1 2 0 0 4
Dilated cardiomyopathy 1S 0 1 3 0 0 4
Dystonia 28, childhood-onset 0 0 4 0 0 4
EAST syndrome 0 1 3 0 0 4
Ehlers-Danlos syndrome, classic type, 1 0 1 3 0 0 4
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 3 0 0 4
Elliptocytosis 2 1 0 3 0 0 4
Epidermolysis bullosa simplex with nail dystrophy 0 1 3 0 0 4
Epilepsy, early-onset, with or without developmental delay 0 0 4 0 0 4
Epilepsy, familial focal, with variable foci 2 0 0 4 0 0 4
Exostoses, multiple, type 1 2 1 1 0 0 4
Familial adenomatous polyposis 2 2 0 2 0 0 4
Familial idiopathic hypercalciuria 0 0 4 0 0 4
Familial temporal lobe epilepsy 5 0 0 4 0 0 4
Fanconi anemia complementation group G 0 4 0 0 0 4
Fanconi anemia complementation group L 3 1 0 0 0 4
Fraser syndrome 2 0 1 3 0 0 4
GM1 gangliosidosis type 2 3 0 1 0 0 4
Generalized dominant dystrophic epidermolysis bullosa 2 0 2 0 0 4
Gilbert syndrome 0 3 0 1 0 4
Glycogen storage disease, type IV 0 0 4 0 0 4
Glycogen storage disorder due to hepatic glycogen synthase deficiency 1 2 1 0 0 4
Hearing loss, autosomal dominant 83 0 0 4 0 0 4
Hemochromatosis type 1 2 1 1 0 0 4
Hereditary spastic paraplegia 15 1 2 1 0 0 4
Hereditary spastic paraplegia 43 0 1 3 0 0 4
Hereditary spastic paraplegia 48 0 1 3 0 0 4
Hermansky-Pudlak syndrome 1 0 0 4 0 0 4
Hypercalcemia, infantile, 2 0 2 2 0 0 4
Hyperekplexia 1 1 0 3 0 0 4
Hyperinsulinism-hyperammonemia syndrome 2 0 2 0 0 4
Hyperphosphatasia with intellectual disability syndrome 3 0 1 3 0 0 4
Hypertrophic cardiomyopathy 26 1 0 3 0 0 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 3 0 0 4
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 2 1 0 0 4
Ichthyosis vulgaris 1 3 0 0 0 4
Immunodeficiency, common variable, 12 0 1 3 0 0 4
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 0 4 0 0 4
Intellectual developmental disorder, autosomal dominant 65 0 0 4 0 0 4
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0 1 3 0 0 4
Intellectual disability, X-linked 49 0 0 4 0 0 4
Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 3 0 0 4
Intellectual disability, X-linked, syndromic 33 0 0 4 0 0 4
Intellectual disability, autosomal dominant 3 0 0 4 0 0 4
Intellectual disability, autosomal dominant 40 0 0 4 0 0 4
Intellectual disability, autosomal dominant 46 0 0 4 0 0 4
Intellectual disability, autosomal dominant 54 0 1 3 0 0 4
Intellectual disability, autosomal dominant 8 1 0 3 0 0 4
Intellectual disability, autosomal recessive 53 1 1 2 0 0 4
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 3 0 0 4
Intestinal hypomagnesemia 1 0 1 3 0 0 4
Isovaleryl-CoA dehydrogenase deficiency 1 2 1 0 0 4
Joubert syndrome 3 0 0 4 0 0 4
Joubert syndrome 37 0 2 2 0 0 4
Kabuki syndrome 2 0 0 4 0 0 4
Kleefstra syndrome 1 0 1 3 0 0 4
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 1 3 0 0 4
Lissencephaly type 1 due to doublecortin gene mutation 1 0 3 0 0 4
Long qt syndrome 8 0 0 4 0 0 4
Maple syrup urine disease type 1A 2 1 1 0 0 4
Meckel syndrome, type 4 2 1 1 0 0 4
Meckel syndrome, type 6 1 0 3 0 0 4
Megaconial type congenital muscular dystrophy 0 2 2 0 0 4
Microcephaly, seizures, and developmental delay 0 2 2 0 0 4
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 4 0 0 4
Migraine, familial hemiplegic, 1 0 0 4 0 0 4
Mitochondrial complex III deficiency nuclear type 2 0 0 4 0 0 4
Mucopolysaccharidosis, MPS-I-H/S 1 3 0 0 0 4
Mucopolysaccharidosis, MPS-III-B 1 1 2 0 0 4
Multiple acyl-CoA dehydrogenase deficiency 2 0 2 0 0 4
Multiple mitochondrial dysfunctions syndrome 3 0 1 3 0 0 4
Multiple mitochondrial dysfunctions syndrome 6 0 1 3 0 0 4
Myofibrillar myopathy 6 2 0 2 0 0 4
Myopathy, myofibrillar, 9, with early respiratory failure 2 0 2 0 0 4
Nephrotic syndrome, type 12 0 0 4 0 0 4
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 4 0 0 4
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 1 3 0 0 4
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 3 0 0 4
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 3 0 0 4
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 3 0 0 4
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 4 0 0 4
Neurofibromatosis-Noonan syndrome 3 0 1 0 0 4
Noonan syndrome 5 1 0 3 0 0 4
Oculocutaneous albinism type 1B 4 0 0 0 0 4
Orofaciodigital syndrome type 14 0 1 3 0 0 4
Pachyonychia congenita 3 0 2 2 0 0 4
Paroxysmal nonkinesigenic dyskinesia 1 0 0 4 0 0 4
Periventricular nodular heterotopia 9 0 0 4 0 0 4
Peroxisome biogenesis disorder 4B 0 1 3 0 0 4
Platelet-type bleeding disorder 16 0 1 3 0 0 4
Pontocerebellar hypoplasia type 6 0 1 3 0 0 4
Premature ovarian failure 15 0 0 4 0 0 4
Primary hyperoxaluria, type II 2 0 2 0 0 4
Pyridoxine-dependent epilepsy 1 2 1 0 0 4
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 2 1 0 0 4
Renal carnitine transport defect 2 1 1 0 0 4
Renal tubular acidosis, distal, 4, with hemolytic anemia 1 0 3 0 0 4
Shwachman-Diamond syndrome 1 2 1 1 0 0 4
Spinocerebellar ataxia type 42 0 0 4 0 0 4
Spondyloenchondrodysplasia with immune dysregulation 0 1 3 0 0 4
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 4 0 0 4
Spongy degeneration of central nervous system 3 1 0 0 0 4
Telangiectasia, hereditary hemorrhagic, type 1 1 2 1 0 0 4
Townes-Brocks syndrome 1 0 0 4 0 0 4
Tremor, hereditary essential, 5 0 0 4 0 0 4
Vici syndrome 0 1 3 0 0 4
Vissers-Bodmer syndrome 0 0 4 0 0 4
X-linked intellectual disability with marfanoid habitus 0 1 3 0 0 4
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 3 0 0 4
Xeroderma pigmentosum, group G 1 2 1 0 0 4
von Willebrand disease type 1 0 0 4 0 0 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 0 3 0 0 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 0 3 0 0 3
3-methylglutaconic aciduria, type VIIA 0 0 3 0 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 2 0 0 3
ALG3-congenital disorder of glycosylation 0 2 1 0 0 3
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 2 1 0 0 3
Acyl-CoA oxidase deficiency 0 0 3 0 0 3
Adams-Oliver syndrome 1 0 0 3 0 0 3
Adenylosuccinate lyase deficiency 2 0 1 0 0 3
Aicardi-Goutieres syndrome 2 1 1 1 0 0 3
Alagille syndrome due to a NOTCH2 point mutation 0 0 3 0 0 3
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 3 0 0 3
Alexander disease 1 1 1 0 0 3
Alternating hemiplegia of childhood 2 2 0 1 0 0 3
Alzheimer disease type 1 1 0 2 0 0 3
Amyotrophic lateral sclerosis type 6 2 0 1 0 0 3
Arthrogryposis multiplex congenita 5 0 3 0 0 0 3
Arthrogryposis, distal, with impaired proprioception and touch 0 3 0 0 0 3
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 1 0 2 0 0 3
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 2 1 0 0 0 3
Atrial fibrillation, familial, 7 0 0 3 0 0 3
Autism, susceptibility to, X-linked 3 1 0 2 0 0 3
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 3 0 0 3
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 1 2 0 0 3
Autosomal dominant nonsyndromic hearing loss 56 0 0 3 0 0 3
Autosomal recessive ataxia due to ubiquinone deficiency 1 1 1 0 0 3
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 3 0 0 3
Autosomal recessive congenital ichthyosis 5 0 0 3 0 0 3
Autosomal recessive hypophosphatemic bone disease 0 1 2 0 0 3
Autosomal recessive inherited pseudoxanthoma elasticum 0 3 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 3 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2M 0 1 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 2 0 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 30 0 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 0 2 1 0 0 3
Autosomal recessive spinocerebellar ataxia 16 0 0 3 0 0 3
Autosomal recessive spinocerebellar ataxia 20 0 2 1 0 0 3
Axenfeld-Rieger syndrome type 3 1 1 1 0 0 3
Bardet-Biedl syndrome 8 1 2 0 0 0 3
Benign recurrent intrahepatic cholestasis type 2 0 1 2 0 0 3
Bone marrow failure syndrome 3 0 3 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 3 0 0 3
Brown-Vialetto-van Laere syndrome 2 0 1 2 0 0 3
Brunet-Wagner neurodevelopmental syndrome 0 2 1 0 0 3
C3 glomerulonephritis 0 0 3 0 0 3
CBL-related disorder 0 0 3 0 0 3
Cardiac, facial, and digital anomalies with developmental delay 0 0 3 0 0 3
Cardiomyopathy, familial hypertrophic 27 0 3 0 0 0 3
Cardiomyopathy, familial restrictive, 1 2 0 1 0 0 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 1 0 2 0 0 3
Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 1 2 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2 0 1 0 0 3
Cerebral folate transport deficiency 0 0 2 0 1 3
Charcot-Marie-Tooth disease axonal type 2O 0 0 3 0 0 3
Charcot-Marie-Tooth disease dominant intermediate B 0 0 3 0 0 3
Charcot-Marie-Tooth disease type 4B2 0 1 2 0 0 3
Charcot-Marie-Tooth disease type 4J 0 0 3 0 0 3
Charcot-Marie-Tooth disease, type IA 1 0 2 0 0 3
Christianson syndrome 0 1 2 0 0 3
Cobblestone lissencephaly without muscular or ocular involvement 0 1 2 0 0 3
Colorectal cancer, susceptibility to, 10 0 0 3 0 0 3
Congenital adrenal hypoplasia, X-linked 0 1 2 0 0 3
Congenital afibrinogenemia 0 2 1 0 0 3
Congenital amegakaryocytic thrombocytopenia 1 0 2 1 0 0 3
Congenital anomalies of kidney and urinary tract 3 0 0 3 0 0 3
Congenital bile acid synthesis defect 1 0 2 1 0 0 3
Congenital bile acid synthesis defect 6 0 1 2 0 0 3
Congenital diarrhea 5 with tufting enteropathy 0 2 1 0 0 3
Congenital dyserythropoietic anemia type 4 1 1 1 0 0 3
Congenital hereditary endothelial dystrophy of cornea 1 1 1 0 0 3
Congenital myasthenic syndrome 10 1 1 1 0 0 3
Congenital myasthenic syndrome 4B 1 1 1 0 0 3
Congenital secretory diarrhea, chloride type 0 2 1 0 0 3
Congenital stationary night blindness 1B 0 3 0 0 0 3
Cortical dysplasia-focal epilepsy syndrome 0 1 2 0 0 3
Cowden syndrome 1 3 0 0 0 0 3
Cranioectodermal dysplasia 1 0 0 3 0 0 3
Cranioectodermal dysplasia 2 0 0 3 0 0 3
Deficiency of butyrylcholinesterase 2 1 0 0 0 3
Deficiency of cytochrome-b5 reductase 1 0 2 0 0 3
Delpire-McNeill syndrome 0 0 3 0 0 3
Developmental and epileptic encephalopathy 108 0 0 3 0 0 3
Developmental and epileptic encephalopathy 93 0 0 3 0 0 3
Developmental and epileptic encephalopathy 99 0 2 1 0 0 3
Developmental and epileptic encephalopathy, 16 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 3 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 32 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 39 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 47 0 1 2 0 0 3
Developmental and epileptic encephalopathy, 57 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 70 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 76 1 1 1 0 0 3
Developmental and epileptic encephalopathy, 79 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 0 3 0 0 3
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 0 3 0 0 3
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 3 0 0 3
Diets-Jongmans syndrome 0 0 3 0 0 3
Dilated cardiomyopathy 1D 2 0 1 0 0 3
Dyggve-Melchior-Clausen syndrome 0 3 0 0 0 3
Dyskinesia with orofacial involvement, autosomal dominant 0 0 3 0 0 3
Early-onset myopathy with fatal cardiomyopathy 0 0 2 1 0 3
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 1 1 0 0 3
Elliptocytosis 1 0 1 2 0 0 3
Encephalopathy due to GLUT1 deficiency 0 2 1 0 0 3
Epidermolysis bullosa simplex 5C, with pyloric atresia 1 0 2 0 0 3
Epilepsy with myoclonic atonic seizures 0 0 3 0 0 3
Epilepsy, familial focal, with variable foci 4 0 0 3 0 0 3
Episodic ataxia type 2 0 0 3 0 0 3
Factor H deficiency 0 0 3 0 0 3
Familial cold autoinflammatory syndrome 2 0 0 3 0 0 3
Familial cold autoinflammatory syndrome 4 0 0 3 0 0 3
Familial hemophagocytic lymphohistiocytosis 5 1 1 1 0 0 3
Familial infantile myasthenia 0 0 3 0 0 3
Familial partial lipodystrophy, Dunnigan type 2 1 0 0 0 3
Fanconi anemia complementation group C 2 1 0 0 0 3
Farber lipogranulomatosis 2 0 1 0 0 3
Fleck corneal dystrophy 0 1 2 0 0 3
Focal segmental glomerulosclerosis 8 0 0 3 0 0 3
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 3 0 0 0 3
Galloway-Mowat syndrome 1 0 1 2 0 0 3
Galloway-Mowat syndrome 2, X-linked 0 0 3 0 0 3
Gaucher disease type II 3 0 0 0 0 3
Gaze palsy, familial horizontal, with progressive scoliosis 1 1 2 0 0 0 3
Ghosal hematodiaphyseal dysplasia 1 0 2 0 0 3
Glaucoma 1, open angle, A 1 0 2 0 0 3
Glaucoma 3A 1 1 1 0 0 3
Glucocorticoid deficiency with achalasia 2 0 1 0 0 3
Growth delay due to insulin-like growth factor I resistance 0 0 3 0 0 3
HSD10 mitochondrial disease 0 0 3 0 0 3
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 2 0 0 3
Hereditary spastic paraplegia 4 2 0 1 0 0 3
Hereditary spastic paraplegia 46 0 0 3 0 0 3
Hereditary spastic paraplegia 56 0 1 2 0 0 3
Hereditary xanthinuria type 1 1 2 0 0 0 3
Heyn-Sproul-Jackson syndrome 0 0 3 0 0 3
Hogue-Janssens syndrome 1 0 0 3 0 0 3
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 1 2 0 0 3
Hypercholesterolemia, autosomal dominant, type B 1 0 2 0 0 3
Hyperglycinuria 0 1 2 0 0 3
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 1 2 0 0 3
Hypomyelinating leukodystrophy 2 0 2 1 0 0 3
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 0 3 0 0 3
Hypoparathyroidism, deafness, renal disease syndrome 0 0 3 0 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 1 1 1 0 0 3
Hypotrichosis 8 1 2 0 0 0 3
Immunodeficiency 23 0 1 2 0 0 3
Immunodeficiency 47 0 0 3 0 0 3
Immunodeficiency 83, susceptibility to viral infections 0 0 3 0 0 3
Immunodeficiency, common variable, 10 0 0 3 0 0 3
Immunodeficiency, common variable, 3 0 0 3 0 0 3
Immunodeficiency, developmental delay, and hypohomocysteinemia 0 0 3 0 0 3
Infantile-onset ascending hereditary spastic paralysis 0 1 2 0 0 3
Intellectual developmental disorder with autism and macrocephaly 0 0 3 0 0 3
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 1 0 2 0 0 3
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 3 0 0 3
Intellectual disability, X-linked 1 1 1 1 0 0 3
Intellectual disability, X-linked syndromic, Turner type 0 0 3 0 0 3
Intellectual disability, autosomal dominant 24 0 0 3 0 0 3
Intellectual disability, autosomal dominant 29 0 0 3 0 0 3
Intellectual disability, autosomal dominant 39 0 1 2 0 0 3
Intellectual disability, autosomal recessive 13 0 0 3 0 0 3
Intellectual disability, autosomal recessive 42 1 1 1 0 0 3
Intellectual disability, autosomal recessive 5 0 2 1 0 0 3
Intellectual disability-epilepsy-extrapyramidal syndrome 0 1 2 0 0 3
Joubert syndrome 21 0 1 2 0 0 3
Joubert syndrome 23 0 2 1 0 0 3
Junctional epidermolysis bullosa with pyloric atresia 1 0 2 0 0 3
KINSSHIP syndrome 0 0 3 0 0 3
Kindler syndrome 1 1 1 0 0 3
L-2-hydroxyglutaric aciduria 1 0 2 0 0 3
LAMB2-related infantile-onset nephrotic syndrome 0 1 2 0 0 3
LEOPARD syndrome 1 3 0 0 0 0 3
Lafora disease 0 1 2 0 0 3
Leber congenital amaurosis 1 0 2 1 0 0 3
Leber congenital amaurosis 2 1 1 1 0 0 3
Lethal Kniest-like syndrome 0 1 2 0 0 3
Leukocyte adhesion deficiency 3 0 3 0 0 0 3
Leukodystrophy, hypomyelinating, 16 0 0 3 0 0 3
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 0 3 0 0 3
Li-Fraumeni syndrome 2 0 0 3 0 0 3
Lissencephaly 10 0 0 3 0 0 3
Lucey-Driscoll syndrome 1 1 1 0 0 3
Lymphatic malformation 6 1 2 0 0 0 3
Lysosomal acid lipase deficiency 0 1 2 0 0 3
Macular corneal dystrophy 0 1 2 0 0 3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 2 0 0 3
Methylmalonic acidemia with homocystinuria, type cblJ 0 1 2 0 0 3
Microcephaly 17, primary, autosomal recessive 0 1 2 0 0 3
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 3 0 0 0 3
Mitochondrial complex 1 deficiency, nuclear type 17 1 2 0 0 0 3
Mucopolysaccharidosis, MPS-I-S 1 2 0 0 0 3
Mullegama-Klein-Martinez syndrome 0 1 2 0 0 3
Multiple epiphyseal dysplasia type 1 1 2 0 0 0 3
Multiple mitochondrial dysfunctions syndrome 2 1 0 2 0 0 3
Multiple sulfatase deficiency 1 0 2 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 1 0 2 0 0 3
Muscular dystrophy-dystroglycanopathy type B6 0 1 2 0 0 3
Myoclonic epilepsy of Lafora 1 0 1 2 0 0 3
Myoclonus, intractable, neonatal 0 1 2 0 0 3
Myopathy, centronuclear, 5 0 0 3 0 0 3
Myopathy, proximal, and ophthalmoplegia 0 0 3 0 0 3
Myosin storage myopathy 0 0 3 0 0 3
NAD(P)HX dehydratase deficiency 1 1 1 0 0 3
Nemaline myopathy 8 0 3 0 0 0 3
Nephrolithiasis susceptibility caused by SLC26A1 0 0 3 0 0 3
Nephronophthisis 14 0 0 3 0 0 3
Nephrotic syndrome, type 4 1 0 2 0 0 3
Neurodegeneration with brain iron accumulation 5 0 1 2 0 0 3
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 0 3 0 0 3
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 1 2 0 0 3
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 2 1 0 0 3
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 3 0 0 3
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 0 3 0 0 3
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 3 0 0 3
Neurodevelopmental disorder with poor language and loss of hand skills 0 0 3 0 0 3
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 3 0 0 3
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 2 0 0 3
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 1 2 0 0 3
Niemann-Pick disease, type C2 0 3 0 0 0 3
Nizon-Isidor syndrome 0 0 3 0 0 3
Osteogenesis imperfecta type 11 0 3 0 0 0 3
Osteogenesis imperfecta with normal sclerae, dominant form 1 1 1 0 0 3
Osteoporosis with pseudoglioma 0 1 2 0 0 3
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 2 0 0 3
Paramyotonia congenita of Von Eulenburg 0 0 3 0 0 3
Parenti-mignot neurodevelopmental syndrome 0 0 3 0 0 3
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 3 0 0 3
Parkinsonism with polyneuropathy 0 0 3 0 0 3
Partial androgen insensitivity syndrome 1 1 1 0 0 3
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 3 0 0 3
Peroxisome biogenesis disorder 12A (Zellweger) 0 0 3 0 0 3
Platelet-type bleeding disorder 20 0 0 3 0 0 3
Polycystic kidney disease 2 2 0 1 0 0 3
Primary ciliary dyskinesia 29 2 1 0 0 0 3
Primary familial polycythemia due to EPO receptor mutation 0 0 3 0 0 3
Primary hyperoxaluria type 3 1 1 1 0 0 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0 1 2 0 0 3
Progressive familial heart block type IB 0 0 3 0 0 3
Prolidase deficiency 1 2 0 0 0 3
Pseudo-TORCH syndrome 1 0 1 2 0 0 3
Pyknodysostosis 2 0 1 0 0 3
Pyridoxal phosphate-responsive seizures 2 0 1 0 0 3
Radio-Tartaglia syndrome 0 0 3 0 0 3
Renal hypomagnesemia 5 with ocular involvement 1 1 1 0 0 3
Renal-hepatic-pancreatic dysplasia 1 0 1 2 0 0 3
Retinitis pigmentosa 1 0 1 2 0 0 3
Retinitis pigmentosa 19 3 0 0 0 0 3
Retinitis pigmentosa 20 1 1 1 0 0 3
Retinitis pigmentosa 44 0 0 3 0 0 3
Rheumatoid arthritis 0 0 3 0 0 3
Saldino-Mainzer syndrome 0 1 2 0 0 3
Schwartz-Jampel syndrome type 1 0 0 3 0 0 3
Seizures, benign familial infantile, 2 3 0 0 0 0 3
Senior-Loken syndrome 5 0 0 3 0 0 3
Severe combined immunodeficiency due to CARMIL2 deficiency 1 1 1 0 0 3
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 0 3 0 0 3
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 0 0 3 0 0 3
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 2 0 0 3
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 2 0 0 3
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 1 2 0 0 3
Short-rib thoracic dysplasia 6 with or without polydactyly 0 2 1 0 0 3
Shukla-Vernon syndrome 0 0 3 0 0 3
Sialic acid storage disease, severe infantile type 1 1 1 0 0 3
Sitosterolemia 1 1 1 1 0 0 3
Sjögren-Larsson syndrome 1 2 0 0 0 3
Snijders Blok-Campeau syndrome 0 0 3 0 0 3
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 1 1 0 0 3
Spastic paraplegia-severe developmental delay-epilepsy syndrome 1 0 2 0 0 3
Spinocerebellar ataxia type 15/16 0 0 3 0 0 3
Spinocerebellar ataxia type 35 0 0 3 0 0 3
Spinocerebellar ataxia type 40 0 0 3 0 0 3
Sponastrime dysplasia 0 1 2 0 0 3
Spondylocostal dysostosis 5 0 0 3 0 0 3
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 2 0 0 3
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 2 0 0 3
Stickler syndrome type 1 1 0 2 0 0 3
Succinyl-CoA acetoacetate transferase deficiency 0 1 2 0 0 3
Sulfite oxidase deficiency 0 0 3 0 0 3
Syndromic X-linked intellectual disability Najm type 0 1 2 0 0 3
Thrombophilia due to activated protein C resistance 0 0 3 0 0 3
Thrombophilia due to thrombin defect 1 0 2 0 0 3
Transient infantile hypertriglyceridemia and hepatosteatosis 0 1 2 0 0 3
Trichohepatoenteric syndrome 1 0 3 0 0 0 3
Trichorhinophalangeal dysplasia type I 0 1 2 0 0 3
Upshaw-Schulman syndrome 0 1 2 0 0 3
Usher syndrome type 2C 1 0 2 0 0 3
Van Maldergem syndrome 1 0 0 3 0 0 3
Warburg micro syndrome 1 0 3 0 0 0 3
Warburg micro syndrome 2 0 0 3 0 0 3
Weill-Marchesani syndrome 1 0 0 3 0 0 3
Wieacker-Wolff syndrome, female-restricted 0 0 3 0 0 3
Wiedemann-Steiner syndrome 0 1 2 0 0 3
Wolfram syndrome 1 1 0 2 0 0 3
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 2 0 0 3
X-linked lymphoproliferative disease due to XIAP deficiency 0 2 1 0 0 3
beta Thalassemia 1 2 0 0 0 3
von Willebrand disease type 3 0 1 2 0 0 3
3 beta-Hydroxysteroid dehydrogenase deficiency 0 0 2 0 0 2
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 1 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 2 0 0 0 2
3MC syndrome 2 0 0 2 0 0 2
8q24.3 microdeletion syndrome 0 1 1 0 0 2
Abetalipoproteinaemia 0 2 0 0 0 2
Achondroplasia 2 0 0 0 0 2
Acrocephalosyndactyly type I 2 0 0 0 0 2
Acroerythrokeratoderma 1 0 1 0 0 2
Acromesomelic dysplasia 1, Maroteaux type 0 0 2 0 0 2
Actin accumulation myopathy 0 0 2 0 0 2
Aicardi-Goutieres syndrome 3 1 1 0 0 0 2
Aicardi-Goutieres syndrome 4 0 1 1 0 0 2
Allan-Herndon-Dudley syndrome 1 1 0 0 0 2
Alzheimer disease 3 0 1 1 0 0 2
Amelocerebrohypohidrotic syndrome 1 1 0 0 0 2
Aminoacylase 1 deficiency 0 0 2 0 0 2
Amyotrophic lateral sclerosis-parkinsonism-dementia complex 0 0 2 0 0 2
Androgen resistance syndrome 0 0 2 0 0 2
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 0 2 0 0 2
Anterior segment dysgenesis 6 1 0 1 0 0 2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 0 2 0 0 2
Arginase deficiency 0 0 2 0 0 2
Argininosuccinate lyase deficiency 1 1 0 0 0 2
Arrhythmogenic right ventricular dysplasia 13 0 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 5 1 0 1 0 0 2
Arrhythmogenic right ventricular dysplasia 8 0 0 2 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 1 0 0 2
Atrial conduction disease 0 1 1 0 0 2
Atypical glycine encephalopathy 0 0 2 0 0 2
Auditory neuropathy-optic atrophy syndrome 0 1 1 0 0 2
Autism spectrum disorder due to AUTS2 deficiency 0 1 1 0 0 2
Autism, susceptibility to, 5 0 0 2 0 0 2
Autoimmune interstitial lung disease-arthritis syndrome 0 0 2 0 0 2
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 1 1 0 0 2
Autoimmune lymphoproliferative syndrome type 1 0 0 2 0 0 2
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 0 0 2 0 0 2
Autoinflammatory syndrome, familial, Behcet-like 1 0 0 2 0 0 2
Autosomal dominant Robinow syndrome 1 0 1 1 0 0 2
Autosomal dominant aplasia and myelodysplasia 0 0 2 0 0 2
Autosomal dominant centronuclear myopathy 1 0 1 0 0 2
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 0 2 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 0 2 0 0 2
Autosomal dominant distal renal tubular acidosis 1 0 1 0 0 2
Autosomal dominant hypocalcemia 1 0 1 1 0 0 2
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 1 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 11 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 2A 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 4A 0 0 2 0 0 2
Autosomal dominant osteopetrosis 2 0 1 1 0 0 2
Autosomal recessive congenital ichthyosis 4B 1 1 0 0 0 2
Autosomal recessive congenital ichthyosis 6 2 0 0 0 0 2
Autosomal recessive distal spinal muscular atrophy 2 0 0 2 0 0 2
Autosomal recessive early-onset Parkinson disease 7 0 0 2 0 0 2
Autosomal recessive juvenile Parkinson disease 2 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2O 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2T 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 15 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 36 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 6 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 1 1 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 8 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 93 1 0 1 0 0 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 0 2 0 0 2
Baller-Gerold syndrome 0 0 2 0 0 2
Bardet-Biedl syndrome 1 0 1 1 0 0 2
Bardet-Biedl syndrome 10 1 0 1 0 0 2
Bardet-Biedl syndrome 12 0 1 1 0 0 2
Bardet-Biedl syndrome 7 1 0 1 0 0 2
Benign familial hematuria 0 0 2 0 0 2
Benign recurrent intrahepatic cholestasis type 1 0 1 1 0 0 2
Beta-D-mannosidosis 0 0 2 0 0 2
Bone marrow failure syndrome 4 0 0 2 0 0 2
Branchiootorenal syndrome 1 0 0 2 0 0 2
Brown-Vialetto-van Laere syndrome 1 0 0 2 0 0 2
Bruck syndrome 2 0 1 1 0 0 2
C1Q deficiency 0 0 2 0 0 2
CCDC115-CDG 0 0 2 0 0 2
Camptomelic dysplasia 1 0 1 0 0 2
Cardiomyopathy, familial restrictive, 6 0 1 1 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 2 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 2 1 0 1 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 5 0 1 1 0 0 2
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 0 2 0 0 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 0 1 1 0 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 1 1 0 0 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 1 1 0 0 2
Cerebellar atrophy with seizures and variable developmental delay 0 2 0 0 0 2
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 0 0 2 0 0 2
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2Q 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2S 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2Z 1 0 1 0 0 2
Charcot-Marie-Tooth disease dominant intermediate C 0 0 2 0 0 2
Charcot-Marie-Tooth disease dominant intermediate E 1 0 1 0 0 2
Charcot-Marie-Tooth disease recessive intermediate A 1 0 1 0 0 2
Charcot-Marie-Tooth disease type 2A1 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 2I 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 4A 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4B1 0 1 1 0 0 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 1 0 0 2
Charcot-Marie-tooth disease, axonal, type 2DD 0 0 2 0 0 2
Childhood apraxia of speech 0 1 1 0 0 2
Childhood onset GLUT1 deficiency syndrome 2 0 2 0 0 0 2
Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 0 1 0 0 2
Cholesteryl ester storage disease 2 0 0 0 0 2
Chondrodysplasia punctata 2 X-linked dominant 0 0 2 0 0 2
Ciliary dyskinesia, primary, 37 0 0 2 0 0 2
Ciliary dyskinesia, primary, 44 0 0 2 0 0 2
Classic dopamine transporter deficiency syndrome 0 0 2 0 0 2
Coffin-Siris syndrome 12 0 0 2 0 0 2
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 2 0 0 2
Colorectal cancer 0 0 2 0 0 2
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 11 0 1 1 0 0 2
Combined oxidative phosphorylation defect type 13 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 21 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 23 0 2 0 0 0 2
Combined oxidative phosphorylation defect type 24 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 27 0 1 1 0 0 2
Combined oxidative phosphorylation deficiency 36 0 0 2 0 0 2
Complement component 5 deficiency 0 0 2 0 0 2
Complement component 6 deficiency 1 1 0 0 0 2
Complex cortical dysplasia with other brain malformations 1 0 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 3 0 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 5 0 2 0 0 0 2
Congenital factor V deficiency 0 1 1 0 0 2
Congenital generalized lipodystrophy type 2 0 2 0 0 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 2 0 0 2
Congenital muscular dystrophy due to LMNA mutation 1 0 1 0 0 2
Congenital myasthenic syndrome 12 0 1 1 0 0 2
Congenital myasthenic syndrome 19 0 1 1 0 0 2
Congenital myasthenic syndrome 1A 1 0 1 0 0 2
Congenital myasthenic syndrome 2A 0 1 1 0 0 2
Congenital myasthenic syndrome 5 0 1 1 0 0 2
Congenital myopathy 23 0 0 2 0 0 2
Congenital myotonia, autosomal dominant form 0 1 1 0 0 2
Congenital primary aphakia 0 0 2 0 0 2
Costello syndrome 1 1 0 0 0 2
Cowden syndrome 7 0 1 1 0 0 2
Craniolenticulosutural dysplasia 0 0 2 0 0 2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 2 0 0 2
Deficiency of aromatic-L-amino-acid decarboxylase 1 1 0 0 0 2
Deficiency of butyryl-CoA dehydrogenase 1 0 1 0 0 2
Deficiency of ferroxidase 0 1 1 0 0 2
Deficiency of guanidinoacetate methyltransferase 0 2 0 0 0 2
Deficiency of hydroxymethylglutaryl-CoA lyase 1 1 0 0 0 2
Deficiency of steroid 11-beta-monooxygenase 1 1 0 0 0 2
Deficiency of steroid 17-alpha-monooxygenase 0 1 1 0 0 2
Deficiency of transaldolase 0 1 1 0 0 2
Dent disease type 1 0 2 0 0 0 2
Dent disease type 2 1 0 1 0 0 2
Developmental and epileptic encephalopathy 104 0 0 2 0 0 2
Developmental and epileptic encephalopathy 91 0 0 2 0 0 2
Developmental and epileptic encephalopathy 92 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 33 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 45 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 50 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 54 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 59 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 63 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 65 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 72 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 83 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 87 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 90 0 0 2 0 0 2
Developmental delay with dysmorphic facies and dental anomalies 0 0 2 0 0 2
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 2 0 0 2
Developmental delay, hypotonia, and impaired language 0 0 2 0 0 2
Diabetes insipidus, nephrogenic, autosomal 1 0 1 0 0 2
Diabetes mellitus, permanent neonatal 2 2 0 0 0 0 2
Diabetes mellitus, transient neonatal, 2 0 0 2 0 0 2
Diamond-Blackfan anemia 3 0 1 1 0 0 2
Dias-Logan syndrome 0 0 2 0 0 2
Dilated cardiomyopathy 1E 0 0 2 0 0 2
Dilated cardiomyopathy 1G 0 0 2 0 0 2
Dilated cardiomyopathy 1O 0 0 2 0 0 2
Distal arthrogryposis type 5D 0 1 1 0 0 2
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 1 1 0 0 2
Drash syndrome 1 1 0 0 0 2
Dyskeratosis congenita, autosomal dominant 6 0 1 1 0 0 2
Dyskeratosis congenita, autosomal recessive 6 0 0 2 0 0 2
Dystonia 16 0 0 2 0 0 2
Dystonia 24 0 0 2 0 0 2
Dystonia 34, myoclonic 0 0 2 0 0 2
Dystonia 9 0 1 1 0 0 2
Early-onset generalized limb-onset dystonia 1 0 1 0 0 2
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 0 1 0 0 2
Ehlers-Danlos syndrome, arthrochalasia type 0 2 0 0 0 2
Ehlers-Danlos syndrome, periodontal type 2 0 0 2 0 0 2
Ehlers-Danlos syndrome, type 4 1 0 1 0 0 2
Eichsfeld type congenital muscular dystrophy 1 1 0 0 0 2
Emery-Dreifuss muscular dystrophy 1, X-linked 1 1 0 0 0 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 2 0 0 2
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 0 1 0 0 2
Enterokinase deficiency 0 2 0 0 0 2
Epidermolysis bullosa simplex 1A, generalized severe 0 2 0 0 0 2
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 1 1 0 0 0 2
Epidermolysis bullosa, junctional 2A, intermediate 0 2 0 0 0 2
Epilepsy, childhood absence, susceptibility to, 6 0 0 2 0 0 2
Epilepsy, early-onset, vitamin B6-dependent 0 0 2 0 0 2
Epilepsy, familial focal, with variable foci 3 0 1 1 0 0 2
Epilepsy, familial temporal lobe, 1 0 0 2 0 0 2
Episodic kinesigenic dyskinesia 1 1 0 1 0 0 2
Erythrocytosis, familial, 4 0 0 2 0 0 2
Erythrocytosis, familial, 6 1 0 1 0 0 2
Fabry disease 1 0 1 0 0 2
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 0 2 0 0 2
Familial Mediterranean fever, autosomal dominant 0 0 2 0 0 2
Familial medullary thyroid carcinoma 0 0 2 0 0 2
Familial porphyria cutanea tarda 0 1 1 0 0 2
Familial renal glucosuria 0 0 2 0 0 2
Familial temporal lobe epilepsy 7 0 0 2 0 0 2
Fanconi anemia complementation group D1 0 0 2 0 0 2
Fanconi anemia complementation group J 1 0 1 0 0 2
Fanconi anemia complementation group N 0 1 1 0 0 2
Fanconi anemia complementation group P 0 1 1 0 0 2
Fanconi renotubular syndrome 1 0 0 2 0 0 2
Fanconi-Bickel syndrome 1 1 0 0 0 2
Focal dermal hypoplasia 0 1 1 0 0 2
Fraser syndrome 1 0 0 2 0 0 2
Frontometaphyseal dysplasia 1 0 0 2 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 0 2 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 0 0 2 0 0 2
Fructose-biphosphatase deficiency 1 1 0 0 0 2
GM1 gangliosidosis type 3 1 0 1 0 0 2
GTP cyclohydrolase I deficiency with hyperphenylalaninemia 0 0 2 0 0 2
Gaucher disease type I 1 1 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 1 0 0 2 0 0 2
Giant axonal neuropathy 1 0 0 2 0 0 2
Glucocorticoid deficiency 1 0 2 0 0 0 2
Glutamate pyruvate transaminase 2 deficiency 0 0 2 0 0 2
Glycogen storage disease IXd 0 0 2 0 0 2
Glycogen storage disease, type V 1 1 0 0 0 2
Goldberg-Shprintzen syndrome 0 1 1 0 0 2
Gordon syndrome 0 0 2 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 1 0 1 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 0 2 0 0 0 2
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 0 2 0 0 2
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 0 0 2 0 0 2
H syndrome 1 0 1 0 0 2
Heart and brain malformation syndrome 0 0 2 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 0 2
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 1 1 0 0 2
Hereditary attention deficit-hyperactivity disorder 0 0 2 0 0 2
Hereditary factor IX deficiency disease 2 0 0 0 0 2
Hereditary fructosuria 1 0 1 0 0 2
Hereditary lymphedema type I 0 2 0 0 0 2
Hereditary sensory and autonomic neuropathy type 6 0 1 1 0 0 2
Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 2 0 0 2
Hereditary spastic paraplegia 10 0 0 2 0 0 2
Hereditary spastic paraplegia 31 1 0 1 0 0 2
Hereditary spherocytosis type 3 0 0 2 0 0 2
Heterotaxy, visceral, 8, autosomal 0 2 0 0 0 2
Histiocytic medullary reticulosis 0 1 1 0 0 2
Holoprosencephaly 13, X-linked 0 0 2 0 0 2
Holoprosencephaly 9 0 0 2 0 0 2
Hyaline fibromatosis syndrome 1 1 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 1 1 0 0 2
Hyper-IgE recurrent infection syndrome 5, autosomal recessive 0 0 2 0 0 2
Hyper-IgM syndrome type 1 1 0 1 0 0 2
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 1 0 1 0 0 2
Hyperlipoproteinemia, type 1D 0 1 1 0 0 2
Hyperphosphatasia with intellectual disability syndrome 2 0 1 1 0 0 2
Hypertrophic cardiomyopathy 8 0 0 2 0 0 2
Hypertrophic cardiomyopathy 9 0 1 1 0 0 2
Hypokalemic periodic paralysis, type 2 1 0 1 0 0 2
Hypomyelinating leukodystrophy 10 0 1 1 0 0 2
Hypomyelinating leukodystrophy 3 0 1 1 0 0 2
Hypomyelinating leukodystrophy 4 0 0 2 0 0 2
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 0 2 0 0 2
Hypotonia with lactic acidemia and hyperammonemia 0 0 2 0 0 2
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0 1 1 0 0 2
Hypotrichosis 6 0 1 1 0 0 2
Ichthyosis prematurity syndrome 0 0 2 0 0 2
Idiopathic basal ganglia calcification 1 0 0 2 0 0 2
Imerslund-Grasbeck syndrome type 2 0 1 1 0 0 2
Immunodeficiency 104 0 1 1 0 0 2
Immunodeficiency 11b with atopic dermatitis 0 0 2 0 0 2
Immunodeficiency 15a 0 0 2 0 0 2
Immunodeficiency 67 0 1 1 0 0 2
Immunodeficiency 72 with autoinflammation 0 1 1 0 0 2
Immunodeficiency due to MASP-2 deficiency 0 0 2 0 0 2
Immunodeficiency, common variable, 14 0 0 2 0 0 2
Immunodeficiency, common variable, 7 0 0 2 0 0 2
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 0 2 0 0 2
Infantile convulsions and choreoathetosis 2 0 0 0 0 2
Infantile hypophosphatasia 2 0 0 0 0 2
Infantile liver failure syndrome 2 0 1 1 0 0 2
Inflammatory bowel disease 28 0 1 1 0 0 2
Intellectual developmental disorder 59 0 0 2 0 0 2
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 0 2 0 0 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 1 1 0 0 2
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 0 2 0 0 2
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 2 0 0 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 2 0 0 2
Intellectual developmental disorder with neuropsychiatric features 0 0 2 0 0 2
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 2 0 0 2
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 0 2 0 0 2
Intellectual developmental disorder, autosomal recessive 68 0 1 1 0 0 2
Intellectual developmental disorder, autosomal recessive 71 0 0 2 0 0 2
Intellectual disability, X-linked 30 0 0 2 0 0 2
Intellectual disability, X-linked 99 0 0 2 0 0 2
Intellectual disability, X-linked, syndromic, Bain type 2 0 0 0 0 2
Intellectual disability, X-linked, syndromic, Houge type 0 0 2 0 0 2
Intellectual disability, autosomal dominant 20 0 0 2 0 0 2
Intellectual disability, autosomal dominant 30 0 1 1 0 0 2
Intellectual disability, autosomal dominant 42 0 0 2 0 0 2
Intellectual disability, autosomal dominant 53 0 0 2 0 0 2
Intellectual disability, autosomal dominant 55, with seizures 1 0 1 0 0 2
Intellectual disability, autosomal dominant 56 0 0 2 0 0 2
Intellectual disability, autosomal dominant 6 1 0 1 0 0 2
Interstitial lung disease due to ABCA3 deficiency 0 2 0 0 0 2
Isolated growth hormone deficiency, type 4 1 1 0 0 0 2
Joubert syndrome 1 0 0 2 0 0 2
Joubert syndrome 16 0 0 2 0 0 2
Joubert syndrome 26 0 2 0 0 0 2
Knobloch syndrome 1 0 0 2 0 0 2
Kostmann syndrome 0 1 1 0 0 2
Laron-type isolated somatotropin defect 1 0 1 0 0 2
Laryngo-onycho-cutaneous syndrome 0 1 1 0 0 2
Left ventricular noncompaction 1 0 0 2 0 0 2
Left ventricular noncompaction 10 0 0 2 0 0 2
Leukodystrophy and acquired microcephaly with or without dystonia; 0 1 1 0 0 2
Leukodystrophy, hypomyelinating, 17 0 1 1 0 0 2
Leukodystrophy, hypomyelinating, 18 0 1 1 0 0 2
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 2 0 0 2
Leukodystrophy, hypomyelinating, 20 0 0 2 0 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 1 1 0 0 2
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 1 1 0 0 2
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 0 2 0 0 2
Leukoencephalopathy, progressive, with ovarian failure 0 1 1 0 0 2
Lewy body dementia 0 0 2 0 0 2
Liddle syndrome 2 0 0 2 0 0 2
Lipid proteinosis 1 1 0 0 0 2
Lipoyl transferase 1 deficiency 0 1 1 0 0 2
Lissencephaly due to TUBA1A mutation 0 1 1 0 0 2
Liver disease, severe congenital 0 1 1 0 0 2
Loeys-Dietz syndrome 2 0 1 1 0 0 2
Loeys-Dietz syndrome 4 0 0 2 0 0 2
Long QT syndrome 3 0 0 2 0 0 2
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 0 2 0 0 2
Luscan-Lumish syndrome 0 0 2 0 0 2
MEGF10-related myopathy 0 0 2 0 0 2
METHEMOGLOBINEMIA, BETA TYPE 2 0 0 0 0 2
MOGS-congenital disorder of glycosylation 0 0 2 0 0 2
Macular dystrophy with central cone involvement 1 1 0 0 0 2
Majeed syndrome 0 0 2 0 0 2
Malan overgrowth syndrome 0 2 0 0 0 2
Mandibulofacial dysostosis-microcephaly syndrome 1 0 1 0 0 2
Marden-Walker syndrome 0 0 2 0 0 2
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 2 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 1 0 1 0 0 2
Menke-Hennekam syndrome 2 0 0 2 0 0 2
Methylcobalamin deficiency type cblG 0 2 0 0 0 2
Methylmalonic aciduria and homocystinuria type cblD 1 0 1 0 0 2
Methylmalonic aciduria, cblB type 1 0 1 0 0 2
Mevalonic aciduria 0 0 2 0 0 2
Microcephaly 13, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly 20, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 26, primary, autosomal dominant 0 0 2 0 0 2
Microcephaly 27, primary, autosomal dominant 0 0 2 0 0 2
Microcephaly 3, primary, autosomal recessive 0 2 0 0 0 2
Microcephaly 30, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 4, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly 6, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly 7, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly and chorioretinopathy 1 0 0 2 0 0 2
Microcephaly, short stature, and limb abnormalities 0 1 1 0 0 2
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 0 2 0 0 2
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 0 1 1 0 0 2
Mismatch repair cancer syndrome 4 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome 13 0 0 2 0 0 2
Mitochondrial DNA depletion syndrome 8a 0 1 1 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 21 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 1 0 2 0 0 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 1 1 0 0 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 1 0 0 0 2
Mucopolysaccharidosis type 7 0 1 1 0 0 2
Mucopolysaccharidosis, MPS-III-C 1 0 1 0 0 2
Mucopolysaccharidosis, type 10 0 0 2 0 0 2
Multicentric osteolysis, nodulosis, and arthropathy 0 0 2 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 2 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 2 0 0 0 2
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 2 0 0 2
Multiple epiphyseal dysplasia type 5 1 1 0 0 0 2
Multiple mitochondrial dysfunctions syndrome 4 0 0 2 0 0 2
Muscle AMP deaminase deficiency 0 0 2 0 0 2
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 1 1 0 0 2
Myasthenic syndrome, congenital, 1B, fast-channel 0 0 2 0 0 2
Myasthenic syndrome, congenital, 24, presynaptic 0 0 2 0 0 2
Myoclonic dystonia 11 0 0 2 0 0 2
Myofibrillar myopathy 3 0 0 2 0 0 2
Nemaline myopathy 5 0 1 1 0 0 2
Nemaline myopathy 6 0 0 2 0 0 2
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 1 0 0 2
Neonatal intrahepatic cholestasis due to citrin deficiency 2 0 0 0 0 2
Nephronophthisis 1 2 0 0 0 0 2
Nephronophthisis 13 0 2 0 0 0 2
Nephrotic syndrome, IIa 26 0 0 2 0 0 2
Nephrotic syndrome, type 20 0 0 2 0 0 2
Netherton syndrome 1 0 1 0 0 2
Neurodegeneration with brain iron accumulation 6 0 0 2 0 0 2
Neurodegeneration with brain iron accumulation 8 0 0 2 0 0 2
Neurodegeneration, childhood-onset, with cerebellar atrophy 0 0 2 0 0 2
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 0 2 0 0 2
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 0 2 0 0 2
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 1 1 0 0 2
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 0 0 2 0 0 2
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 2 0 0 2
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 0 2 0 0 2
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 1 0 1 0 0 2
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 0 1 1 0 0 2
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 1 0 0 2
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 0 2 0 0 2
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 2 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 0 1 0 0 2
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 2 0 0 2
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 1 0 1 0 0 2
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 0 2 0 0 2
Neuronal ceroid lipofuscinosis 1 0 2 0 0 0 2
Neuronal ceroid lipofuscinosis 3 0 1 1 0 0 2
Neuronopathy, distal hereditary motor, autosomal dominant 8 0 0 2 0 0 2
Neuronopathy, distal hereditary motor, type 7B 0 0 2 0 0 2
Neuroocular syndrome 1 0 0 2 0 0 2
Neuropathy, hereditary motor and sensory, type 6A 1 0 1 0 0 2
Nicolaides-Baraitser syndrome 0 0 2 0 0 2
Nijmegen breakage syndrome-like disorder 1 0 1 0 0 2
Noonan syndrome 11 1 0 1 0 0 2
Noonan syndrome 7 1 1 0 0 0 2
Noonan syndrome 9 0 0 2 0 0 2
Normal pressure hydrocephalus 0 1 1 0 0 2
Occipital pachygyria and polymicrogyria 0 2 0 0 0 2
Oculocutaneous albinism type 4 0 1 1 0 0 2
Oguchi disease-2 0 2 0 0 0 2
Okur-Chung neurodevelopmental syndrome 0 1 1 0 0 2
Opsismodysplasia 0 0 2 0 0 2
Osteogenesis imperfecta type 6 0 0 2 0 0 2
Osteogenesis imperfecta type 7 0 2 0 0 0 2
Osteogenesis imperfecta type III 0 1 1 0 0 2
Osteopathia striata with cranial sclerosis 0 0 2 0 0 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 0 2 0 0 2
PMM2-congenital disorder of glycosylation 1 0 1 0 0 2
Pallister-Hall syndrome 0 1 1 0 0 2
Parkinsonian-pyramidal syndrome 1 0 1 0 0 2
Pelizaeus-Merzbacher disease 0 0 2 0 0 2
Pendred syndrome 1 1 0 0 0 2
Peroxisome biogenesis disorder 11A (Zellweger) 0 0 2 0 0 2
Peroxisome biogenesis disorder 14B 0 2 0 0 0 2
Peroxisome biogenesis disorder 8B 0 0 2 0 0 2
Pfeiffer syndrome 2 0 0 0 0 2
Phelan-McDermid syndrome 0 0 2 0 0 2
Pilarowski-Bjornsson syndrome 0 0 2 0 0 2
Poirier-Bienvenu neurodevelopmental syndrome 0 1 1 0 0 2
Polycystic kidney disease 5 0 0 2 0 0 2
Polydactyly, postaxial, type A1 0 0 2 0 0 2
Pontocerebellar hypoplasia type 10 1 0 1 0 0 2
Pontocerebellar hypoplasia type 1B 1 1 0 0 0 2
Pontocerebellar hypoplasia type 2D 1 0 1 0 0 2
Pontocerebellar hypoplasia type 9 0 1 1 0 0 2
Pontocerebellar hypoplasia, type 14 0 0 2 0 0 2
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 1 1 0 0 2
Presynaptic congenital myasthenic syndrome 0 0 2 0 0 2
Primary ciliary dyskinesia 14 0 1 1 0 0 2
Primary ciliary dyskinesia 21 0 1 1 0 0 2
Primary ciliary dyskinesia 28 0 1 1 0 0 2
Primary ciliary dyskinesia 30 0 2 0 0 0 2
Primary coenzyme Q10 deficiency 8 0 0 2 0 0 2
Primary hypomagnesemia 0 0 2 0 0 2
Primrose syndrome 1 0 1 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 2 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 1 0 1 0 0 2
Progressive myoclonic epilepsy type 3 0 1 1 0 0 2
Progressive sclerosing poliodystrophy 0 0 2 0 0 2
Proximal myopathy with extrapyramidal signs 1 0 1 0 0 2
Pseudo-Hurler polydystrophy 1 0 1 0 0 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 1 0 1 0 0 2
Pseudohypoparathyroidism type I A 0 1 1 0 0 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 2 0 0 2
Pyropoikilocytosis, hereditary 0 0 2 0 0 2
Pyruvate carboxylase deficiency 0 1 1 0 0 2
Pyruvate dehydrogenase E2 deficiency 0 1 1 0 0 2
Renal hypodysplasia/aplasia 1 0 1 1 0 0 2
Renal hypodysplasia/aplasia 3 0 0 2 0 0 2
Renal-hepatic-pancreatic dysplasia 2 0 0 2 0 0 2
Renpenning syndrome 0 0 2 0 0 2
Retinitis pigmentosa 25 0 1 1 0 0 2
Retinoblastoma 1 1 0 0 0 2
Rotor syndrome 0 0 2 0 0 2
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 0 1 1 0 0 2
SRD5A3-congenital disorder of glycosylation 1 0 1 0 0 2
Schinzel-Giedion syndrome 0 1 1 0 0 2
Seizures, benign familial infantile, 3 0 0 2 0 0 2
Short-rib thoracic dysplasia 10 with or without polydactyly 0 0 2 0 0 2
Simpson-Golabi-Behmel syndrome type 1 0 0 2 0 0 2
Snijders blok-fisher syndrome 0 0 2 0 0 2
Spastic ataxia 5 0 0 2 0 0 2
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 1 0 0 2
Spermatogenic failure 23 0 0 2 0 0 2
Spermatogenic failure 25 0 1 1 0 0 2
Spinal muscular atrophy with congenital bone fractures 2 1 1 0 0 0 2
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 1 0 1 0 0 2
Spinocerebellar ataxia type 19/22 0 0 2 0 0 2
Spinocerebellar ataxia type 29 1 0 1 0 0 2
Spondyloepiphyseal dysplasia, Stanescu type 0 1 1 0 0 2
Stickler syndrome type 2 0 0 2 0 0 2
Stickler syndrome, type 4 0 0 2 0 0 2
Striatonigral degeneration, childhood-onset 0 1 1 0 0 2
Structural brain anomalies with impaired intellectual development and craniosynostosis 0 0 2 0 0 2
Sucrase-isomaltase deficiency 0 1 1 0 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 0 1 1 0 0 2
Syndromic X-linked intellectual disability 94 0 0 2 0 0 2
Syndromic X-linked intellectual disability Lubs type 0 0 2 0 0 2
Systemic lupus erythematosus 0 0 2 0 0 2
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 2 0 0 2
TELO2-related intellectual disability-neurodevelopmental disorder 0 1 1 0 0 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 2 0 0 0 0 2
Teebi hypertelorism syndrome 2 0 0 2 0 0 2
Temtamy syndrome 2 0 0 0 0 2
Testosterone 17-beta-dehydrogenase deficiency 0 2 0 0 0 2
Thanatophoric dysplasia type 1 2 0 0 0 0 2
Thrombocytopenia 2 0 0 2 0 0 2
Thrombophilia due to protein C deficiency, autosomal dominant 0 0 2 0 0 2
Tolchin-Le Caignec syndrome 0 0 2 0 0 2
Torsion dystonia 6 0 1 1 0 0 2
Treacher Collins syndrome 1 0 1 1 0 0 2
Vanishing white matter disease 0 1 1 0 0 2
Vitamin D-dependent rickets type II with alopecia 1 0 1 0 0 2
Waardenburg syndrome type 1 1 0 1 0 0 2
Waardenburg syndrome type 4C 1 0 1 0 0 2
Wagner syndrome 0 0 2 0 0 2
Warsaw breakage syndrome 0 0 2 0 0 2
Wolcott-Rallison dysplasia 0 1 1 0 0 2
X-linked complicated corpus callosum dysgenesis 1 0 1 0 0 2
X-linked congenital hemolytic anemia 0 0 2 0 0 2
X-linked erythropoietic protoporphyria 0 1 1 0 0 2
X-linked severe combined immunodeficiency 2 0 0 0 0 2
Xanthinuria type II 0 2 0 0 0 2
Xeroderma pigmentosum group B 0 0 2 0 0 2
Xeroderma pigmentosum, group C 1 1 0 0 0 2
Yunis-Varon syndrome 0 1 1 0 0 2
3-Methylglutaconic aciduria type 3 0 0 1 0 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 0 1 0 0 1
3-methylglutaconic aciduria, type VIIB 0 0 1 0 0 1
3MC syndrome 1 0 1 0 0 0 1
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 0 0 1 0 0 1
46,XY sex reversal 11 0 0 1 0 0 1
46,XY sex reversal 7 0 0 1 0 0 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 1 0 0 0 0 1
ALG1-congenital disorder of glycosylation 0 1 0 0 0 1
ALG11-congenital disorder of glycosylation 0 0 1 0 0 1
ALG6-congenital disorder of glycosylation 1C 0 0 1 0 0 1
Abdominal obesity-metabolic syndrome 3 0 0 1 0 0 1
Abdominal obesity-metabolic syndrome 4 1 0 0 0 0 1
Achromatopsia 7 0 1 0 0 0 1
Acne inversa, familial, 1 0 1 0 0 0 1
Acne inversa, familial, 2 0 0 1 0 0 1
Acrofacial dysostosis Cincinnati type 0 0 1 0 0 1
Action myoclonus-renal failure syndrome 0 0 1 0 0 1
Acute febrile neutrophilic dermatosis 0 0 1 0 0 1
Acute myeloid leukemia 1 0 0 0 0 1
Adams-Oliver syndrome 2 0 0 1 0 0 1
Adenine phosphoribosyltransferase deficiency 0 1 0 0 0 1
Adrenocortical carcinoma, hereditary 1 0 0 0 0 1
Adult-onset autosomal dominant demyelinating leukodystrophy 0 0 1 0 0 1
Agammaglobulinemia 9, autosomal recessive 0 0 1 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 1
Aicardi-Goutieres syndrome 5 0 0 1 0 0 1
Aicardi-Goutieres syndrome 6 1 0 0 0 0 1
Al-Raqad syndrome 0 1 0 0 0 1
Alacrima, achalasia, and intellectual disability syndrome 0 0 1 0 0 1
Aland island eye disease 0 1 0 0 0 1
Alopecia universalis congenita 0 0 1 0 0 1
Alopecia-intellectual disability syndrome 4 0 0 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 0 1
Alpha-N-acetylgalactosaminidase deficiency type 1 0 1 0 0 0 1
Alternating hemiplegia of childhood 1 0 0 1 0 0 1
Amelogenesis imperfecta hypomaturation type 2A3 0 1 0 0 0 1
Amelogenesis imperfecta type 1G 0 1 0 0 0 1
Amyloidosis, hereditary systemic 1 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 12 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 15 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 21 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 22 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 5 0 1 0 0 0 1
Amyotrophic lateral sclerosis, susceptibility to, 24 0 0 1 0 0 1
Andersen Tawil syndrome 0 0 1 0 0 1
Anemia, sideroblastic, 5 0 0 1 0 0 1
Anencephaly 2 0 0 1 0 0 1
Aniridia 1 1 0 0 0 0 1
Annular epidermolytic ichthyosis 0 1 0 0 0 1
Anterior segment dysgenesis 3 0 0 1 0 0 1
Anterior segment dysgenesis 8 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 1 0 0 1
Aortic valve disease 2 0 0 1 0 0 1
Aortic valve disease 3 0 0 1 0 0 1
Apparent mineralocorticoid excess 0 0 1 0 0 1
Ariboflavinosis 0 0 1 0 0 1
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 1 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 2 0 0 1 0 0 1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 0 0 1 0 0 1
Arthrogryposis multiplex congenita 2, neurogenic type 0 0 1 0 0 1
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 1 0 0 0 1
Arthrogryposis, distal, IIa 11 0 0 1 0 0 1
Arthrogryposis, distal, type 2B2 0 0 1 0 0 1
Arts syndrome 0 1 0 0 0 1
Asphyxiating thoracic dystrophy 2 0 0 1 0 0 1
Atelosteogenesis type II 0 1 0 0 0 1
Atransferrinemia 0 0 1 0 0 1
Atrial septal defect 7 0 1 0 0 0 1
Atrial standstill 1 0 0 1 0 0 1
Atrophia bulborum hereditaria 0 1 0 0 0 1
Attention deficit-hyperactivity disorder, susceptibility to, 7 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with B factor anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with I factor anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 0 1 0 0 1
Auriculocondylar syndrome 2 0 0 1 0 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 2A 0 0 1 0 0 1
Autoinflammation with arthritis and dyskeratosis 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 0 1
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 1 0 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 3 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 10 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 17 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 28 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 2B 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3B 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 5 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 7 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 9 0 0 1 0 0 1
Autosomal dominant optic atrophy classic form 1 0 0 0 0 1
Autosomal dominant osteopetrosis 1 0 1 0 0 0 1
Autosomal dominant sensory ataxia 1 0 0 1 0 0 1
Autosomal dominant slowed nerve conduction velocity 0 0 1 0 0 1
Autosomal dominant striatal neurodegeneration type 1 0 0 1 0 0 1
Autosomal recessive Robinow syndrome 0 1 0 0 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 0 0 1
Autosomal recessive complex spastic paraplegia type 9B 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 3 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 9 0 0 1 0 0 1
Autosomal recessive keratitis-ichthyosis-deafness syndrome 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2K 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2N 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2P 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2W 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 1 0 0 0 1
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 0 1 0 0 0 1
Autosomal recessive multiple pterygium syndrome 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18A 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 24 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 59 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 61 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 70 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 74 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 86 0 0 1 0 0 1
Autosomal recessive osteopetrosis 2 0 0 1 0 0 1
Autosomal recessive osteopetrosis 7 0 0 1 0 0 1
Autosomal recessive osteopetrosis 8 0 1 0 0 0 1
Autosomal recessive spastic paraplegia type 76 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 2 0 0 1 0 0 1
Avellino corneal dystrophy 1 0 0 0 0 1
B4GALT1-congenital disorder of glycosylation 0 0 1 0 0 1
BENTA disease 0 0 1 0 0 1
Bardet-Biedl syndrome 14 0 0 1 0 0 1
Bardet-Biedl syndrome 5 0 1 0 0 0 1
Bardet-Biedl syndrome 6 0 1 0 0 0 1
Bartter disease type 1 0 1 0 0 0 1
Bartter disease type 4A 0 0 1 0 0 1
Basal ganglia calcification, idiopathic, 4 0 0 1 0 0 1
Bernard-Soulier syndrome, type A2, autosomal dominant 0 1 0 0 0 1
Bilateral parasagittal parieto-occipital polymicrogyria 0 0 1 0 0 1
Bile acid conjugation defect 1 0 0 1 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 0 0 1
Blepharocheilodontic syndrome 1 0 0 1 0 0 1
Blepharocheilodontic syndrome 2 0 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 1 0 0 0 1
Blepharophimosis-impaired intellectual development syndrome 0 0 1 0 0 1
Bone marrow failure syndrome 5 1 0 0 0 0 1
Bone osteosarcoma 0 0 1 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 0 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 1 0 0 1
Braddock-carey syndrome 2 0 0 1 0 0 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 0 1 0 0 1
Brain dopamine-serotonin vesicular transport disease 0 0 1 0 0 1
Branchiooculofacial syndrome 0 0 1 0 0 1
Brittle cornea syndrome 2 0 0 1 0 0 1
Brugada syndrome 4 0 0 1 0 0 1
Brugada syndrome 8 0 0 1 0 0 1
Brugada syndrome 9 0 0 1 0 0 1
C syndrome 0 0 1 0 0 1
CFHR5 deficiency 0 0 1 0 0 1
COG1 congenital disorder of glycosylation 0 0 1 0 0 1
COG5-congenital disorder of glycosylation 0 0 1 0 0 1
COG6-congenital disorder of glycosylation 0 0 1 0 0 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 1 0 0 0 1
Candidiasis, familial, 6 0 0 1 0 0 1
Capillary malformation-arteriovenous malformation 1 0 0 1 0 0 1
Cardiac valvular defect, developmental 0 0 1 0 0 1
Cardiac valvular dysplasia, X-linked 0 0 1 0 0 1
Cardiac-urogenital syndrome 0 0 1 0 0 1
Cardioacrofacial dysplasia 1 0 0 1 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Cardiomyopathy, dilated, 2D 0 0 1 0 0 1
Cardiomyopathy, dilated, 2F 0 0 1 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 1
Catel-Manzke syndrome 0 0 1 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 1 0 0 1
Cerebellar atrophy, developmental delay, and seizures 0 0 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 0 0 1
Cerebral palsy, spastic quadriplegic, 2 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 3 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 1 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 0 0 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 1B 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 1E 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1F 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2B1 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2E 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2R 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4D 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4E 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4G 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4H 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4K 1 0 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 1 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 1 0 0 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 0 1 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 0 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 0 1 0 0 1
Cholestasis, intrahepatic, of pregnancy, 3 0 1 0 0 0 1
Cholestasis, progressive familial intrahepatic, 5 0 0 1 0 0 1
Cholestasis, progressive familial intrahepatic, 9 0 1 0 0 0 1
Chronic atrial and intestinal dysrhythmia 1 0 0 0 0 1
Chudley-McCullough syndrome 0 1 0 0 0 1
Chylomicron retention disease 1 0 0 0 0 1
Ciliary dyskinesia, primary, 42 0 0 1 0 0 1
Ciliary dyskinesia, primary, 43 0 0 1 0 0 1
Cockayne syndrome type 1 0 0 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 0 1 0 0 1
Coffin-Siris syndrome 5 0 0 1 0 0 1
Coffin-Siris syndrome 6 0 0 1 0 0 1
Coffin-Siris syndrome 8 0 0 1 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 0 1 0 0 1
Cold-induced sweating syndrome 1 0 1 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 1 0 0 1
Colorectal cancer, susceptibility to, 1 0 0 1 0 0 1
Combined immunodeficiency due to MALT1 deficiency 0 0 1 0 0 1
Combined immunodeficiency due to ORAI1 deficiency 0 1 0 0 0 1
Combined immunodeficiency due to ZAP70 deficiency 0 0 1 0 0 1
Combined malonic and methylmalonic acidemia 0 0 1 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 20 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 9 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 39 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 40 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 44 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 56 0 0 1 0 0 1
Complement component 7 deficiency 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 1 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 1
Cone-rod dystrophy 13 0 1 0 0 0 1
Cone-rod dystrophy 18 0 1 0 0 0 1
Cone-rod dystrophy and hearing loss 2 0 0 1 0 0 1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 0 0 1 0 0 1
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 0 0 1 0 0 1
Congenital amegakaryocytic thrombocytopenia 1 0 0 0 0 1
Congenital bilateral aplasia of vas deferens from CFTR mutation 1 0 0 0 0 1
Congenital bile acid synthesis defect 3 0 0 1 0 0 1
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 0 1 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 1 0 0 1
Congenital defect of folate absorption 0 1 0 0 0 1
Congenital diarrhea 7 with exudative enteropathy 0 0 1 0 0 1
Congenital disorder of deglycosylation 1 1 0 0 0 0 1
Congenital disorder of deglycosylation 2 0 0 1 0 0 1
Congenital disorder of glycosylation with defective fucosylation 2 0 0 1 0 0 1
Congenital generalized lipodystrophy type 4 0 1 0 0 0 1
Congenital glucose-galactose malabsorption 0 0 1 0 0 1
Congenital hyperammonemia, type I 0 0 1 0 0 1
Congenital muscular dystrophy with cataracts and intellectual disability 1 0 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 0 1
Congenital myasthenic syndrome 11 0 1 0 0 0 1
Congenital myasthenic syndrome 2C 0 0 1 0 0 1
Congenital myasthenic syndrome 3B 0 1 0 0 0 1
Congenital myasthenic syndrome 4A 1 0 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 1
Congenital myasthenic syndrome 9 0 0 1 0 0 1
Congenital myopathy 18 0 1 0 0 0 1
Congenital myopathy 2b, severe infantile, autosomal recessive 0 0 1 0 0 1
Congenital myopathy 4B, autosomal recessive 0 0 1 0 0 1
Congenital stationary night blindness 1C 0 0 1 0 0 1
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 1 0 0 1
Corneal dystrophy, Fuchs endothelial, 3 0 1 0 0 0 1
Corneal dystrophy, Fuchs endothelial, 8 0 0 1 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 11 0 0 1 0 0 1
Cowden syndrome 6 0 0 1 0 0 1
Coxopodopatellar syndrome 0 0 1 0 0 1
Craniofacial microsomia 1 0 0 1 0 0 1
Craniometaphyseal dysplasia, autosomal dominant 1 0 0 0 0 1
Craniosynostosis 4 0 1 0 0 0 1
Craniotubular dysplasia, Ikegawa type 0 1 0 0 0 1
Crouzon syndrome 1 0 0 0 0 1
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 0 1 0 0 1
Cutaneous mastocytosis 1 0 0 0 0 1
Cutaneous porphyria 0 0 1 0 0 1
Cutis laxa, autosomal dominant 1 0 0 1 0 0 1
Cutis laxa, autosomal recessive, type 2E 0 0 1 0 0 1
Cyclical neutropenia 0 0 1 0 0 1
Cystic leukoencephalopathy without megalencephaly 0 1 0 0 0 1
D,L-2-hydroxyglutaric aciduria 1 0 0 0 0 1
DDX41-related hematologic malignancy predisposition syndrome 0 0 1 0 0 1
DEGCAGS syndrome 0 0 1 0 0 1
DNA ligase IV deficiency 0 0 1 0 0 1
DOCK2 deficiency 0 1 0 0 0 1
DOORS syndrome 1 0 0 0 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 0 1 0 0 1
Deficiency of bisphosphoglycerate mutase 0 0 1 0 0 1
Deficiency of iodide peroxidase 1 0 0 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 0 1 0 0 1
Dejerine-Sottas disease 0 0 1 0 0 1
Dermatitis, atopic 1 0 0 0 0 1
Dermatofibrosis lenticularis disseminata 0 0 1 0 0 1
Desbuquois dysplasia 2 0 0 1 0 0 1
Developmental and epileptic encephalopathy 100 0 0 1 0 0 1
Developmental and epileptic encephalopathy 103 0 0 1 0 0 1
Developmental and epileptic encephalopathy 106 1 0 0 0 0 1
Developmental and epileptic encephalopathy 89 0 0 1 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 15 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 17 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 35 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 38 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 44 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 48 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 52 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 58 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 73 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 75 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 77 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 78 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 81 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 84 0 0 1 0 0 1
Developmental delay and seizures with or without movement abnormalities 0 0 1 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 0 1 0 0 0 1
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 1 0 0 1
Diaphanospondylodysostosis 0 0 1 0 0 1
Diaphyseal dysplasia 1 0 0 0 0 1
Diarrhea 10, protein-losing enteropathy type 0 0 1 0 0 1
Diastrophic dysplasia 0 0 1 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 0 0 0 0 1
Dihydropteridine reductase deficiency 0 1 0 0 0 1
Dilated cardiomyopathy 1CC 0 0 1 0 0 1
Dilated cardiomyopathy 1DD 0 0 1 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 0 1
Dilated cardiomyopathy 1J 0 0 1 0 0 1
Dilated cardiomyopathy 1KK 0 0 1 0 0 1
Dilated cardiomyopathy 1NN 1 0 0 0 0 1
Dilated cardiomyopathy 1V 0 0 1 0 0 1
Dilated cardiomyopathy 1Y 0 1 0 0 0 1
Dilated cardiomyopathy 1Z 0 0 1 0 0 1
Dilated cardiomyopathy 2A 1 0 0 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 0 1
Dominant beta-thalassemia 1 0 0 0 0 1
Duane-radial ray syndrome 0 0 1 0 0 1
Dyskeratosis congenita, X-linked 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant 3 0 0 1 0 0 1
Dystonia 12 0 0 1 0 0 1
Dystonia 30 0 0 1 0 0 1
Dystonia 31 0 1 0 0 0 1
Dystonia 33 0 0 1 0 0 1
Dystonia 5 0 0 1 0 0 1
Early-onset Parkinson disease 20 0 0 1 0 0 1
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 1 0 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 1 0 0 0 0 1
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 1 0 0 0 0 1
Ectopia lentis 1, isolated, autosomal dominant 0 0 1 0 0 1
Ectopia lentis et pupillae 0 0 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Ehlers-Danlos syndrome, cardiac valvular type 0 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 0 1 0 0 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 0 1 0 0 1
Enhanced S-cone syndrome 0 1 0 0 0 1
Epicanthus 1 0 0 0 0 1
Epidermolysis bullosa simplex 1C, localized 0 1 0 0 0 1
Epidermolysis bullosa simplex 2B, generalized intermediate 0 1 0 0 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 1 0 0 0 1
Epidermolysis bullosa simplex 7, with nephropathy and deafness 0 0 1 0 0 1
Epidermolysis bullosa simplex due to plakophilin deficiency 0 1 0 0 0 1
Epidermolysis bullosa simplex, Koebner type 0 0 1 0 0 1
Epidermolysis bullosa, junctional 2B, severe 0 1 0 0 0 1
Epidermolysis bullosa, junctional 3B, severe 0 0 1 0 0 1
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 0 1 0 0 1
Epidermolytic ichthyosis 1 0 0 0 0 1
Epidermolytic palmoplantar keratoderma, 1 1 0 0 0 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 1 0 0 1
Epilepsy, progressive myoclonic, 11 0 0 1 0 0 1
Epithelial recurrent erosion dystrophy 0 0 1 0 0 1
Erythrocytosis, familial, 3 0 0 1 0 0 1
Exostoses, multiple, type 2 1 0 0 0 0 1
FADD-related immunodeficiency 0 1 0 0 0 1
FG syndrome 2 0 0 1 0 0 1
FRAXE 0 0 1 0 0 1
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 1 0 0 0 0 1
Factor I deficiency 0 0 1 0 0 1
Factor XIII, A subunit, deficiency of 0 0 1 0 0 1
Familial acute necrotizing encephalopathy 0 0 1 0 0 1
Familial adenomatous polyposis 3 0 0 1 0 0 1
Familial adenomatous polyposis 4 0 0 1 0 0 1
Familial amyloid nephropathy with urticaria AND deafness 0 0 1 0 0 1
Familial apolipoprotein C-II deficiency 0 1 0 0 0 1
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis type 1 1 0 0 0 0 1
Familial hyperaldosteronism type II 0 0 1 0 0 1
Familial hypocalciuric hypercalcemia 1 0 0 1 0 0 1
Familial isolated congenital asplenia 0 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 0 1 0 0 1
Familial pulmonary capillary hemangiomatosis 0 1 0 0 0 1
Fanconi anemia complementation group B 0 1 0 0 0 1
Fanconi anemia complementation group Q 0 0 1 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 1 0 0 1
Febrile seizures, familial, 2 0 0 1 0 0 1
Fetal akinesia deformation sequence 3 0 1 0 0 0 1
Filippi syndrome 0 0 1 0 0 1
Finnish type amyloidosis 0 0 1 0 0 1
Focal segmental glomerulosclerosis 5 0 0 1 0 0 1
Focal segmental glomerulosclerosis 7 0 1 0 0 0 1
Fontaine progeroid syndrome 0 0 1 0 0 1
Fowler syndrome 0 0 1 0 0 1
Fragile X syndrome 0 0 1 0 0 1
Frontotemporal dementia 0 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 0 1 0 0 1
Fucosidosis 0 1 0 0 0 1
GAPO syndrome 0 1 0 0 0 1
GM3 synthase deficiency 0 1 0 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 0 1 0 0 0 1
Galloway-Mowat syndrome 3 0 0 1 0 0 1
Galloway-Mowat syndrome 4 0 0 1 0 0 1
Gamma-glutamylcysteine synthetase deficiency 0 0 1 0 0 1
Gastrointestinal defects and immunodeficiency syndrome 1 0 1 0 0 0 1
Gastrointestinal defects and immunodeficiency syndrome 2 0 0 1 0 0 1
Geleophysic dysplasia 1 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 0 1
Genitopatellar syndrome 0 1 0 0 0 1
Geroderma osteodysplastica 0 1 0 0 0 1
Gillespie syndrome 0 0 1 0 0 1
Glaucoma 1, open angle, G 0 1 0 0 0 1
Glaucoma 3, primary congenital, D 0 0 1 0 0 1
Global developmental delay, progressive ataxia, and elevated glutamine 0 0 1 0 0 1
Global developmental delay; Seizure 0 0 1 0 0 1
Glomerulotubular Nephropathy 0 0 1 0 0 1
Glucocorticoid deficiency 4 0 0 1 0 0 1
Glutaryl-CoA oxidase deficiency 0 1 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 0 0 1 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 15 0 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 17 1 0 0 0 0 1
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 0 0 1 0 0 1
Granulomatous disease, chronic, X-linked 0 1 0 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 1 0 0 0 0 1
Grebe syndrome 0 0 1 0 0 1
Griscelli syndrome type 3 0 0 1 0 0 1
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0 0 1 0 0 1
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 1 0 0 1
Haim-Munk syndrome 0 1 0 0 0 1
Hand-foot-genital syndrome 0 0 1 0 0 1
Hb SS disease 1 0 0 0 0 1
Hearing loss, X-linked 4 0 0 1 0 0 1
Hearing loss, autosomal dominant 34, with or without inflammation 0 0 1 0 0 1
Hearing loss, autosomal dominant 73 0 0 1 0 0 1
Hearing loss, autosomal dominant 74 0 0 1 0 0 1
Hearing loss, autosomal dominant 80 0 0 1 0 0 1
Hearing loss, autosomal dominant 81 0 0 1 0 0 1
Hearing loss, autosomal recessive 106 0 0 1 0 0 1
Hearing loss, autosomal recessive 110 0 1 0 0 0 1
Heart defect - tongue hamartoma - polysyndactyly syndrome 0 1 0 0 0 1
Hematuria, benign familial, 1 0 0 1 0 0 1
Heme oxygenase 1 deficiency 0 0 1 0 0 1
Hemolytic anemia due to glutathione reductase deficiency 0 1 0 0 0 1
Hengel-Maroofian-Schols syndrome 0 1 0 0 0 1
Hepatic veno-occlusive disease-immunodeficiency syndrome 0 1 0 0 0 1
Hereditary angioedema type 1 1 0 0 0 0 1
Hereditary diffuse leukoencephalopathy with spheroids 0 0 1 0 0 1
Hereditary factor X deficiency disease 0 0 1 0 0 1
Hereditary persistence of fetal hemoglobin 1 0 0 0 0 1
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 0 1 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 0 1
Hereditary spastic paraplegia 49 0 1 0 0 0 1
Hereditary spastic paraplegia 50 0 1 0 0 0 1
Hereditary spastic paraplegia 52 0 1 0 0 0 1
Hereditary spastic paraplegia 57 0 1 0 0 0 1
Hereditary spastic paraplegia 5A 1 0 0 0 0 1
Hereditary spastic paraplegia 6 1 0 0 0 0 1
Hereditary spastic paraplegia 73 0 0 1 0 0 1
Hereditary spastic paraplegia 74 0 0 1 0 0 1
Hereditary spastic paraplegia 75 0 1 0 0 0 1
Hereditary spherocytosis type 4 0 0 1 0 0 1
Hermansky-Pudlak syndrome 10 0 0 1 0 0 1
Hermansky-Pudlak syndrome 2 0 1 0 0 0 1
Hermansky-Pudlak syndrome 3 0 1 0 0 0 1
Hermansky-Pudlak syndrome 4 0 0 1 0 0 1
Hermansky-Pudlak syndrome 5 0 1 0 0 0 1
Hermansky-Pudlak syndrome 9 0 1 0 0 0 1
Heterotaxy, visceral, 9, autosomal, with male infertility 0 0 1 0 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 1
Holocarboxylase synthetase deficiency 0 1 0 0 0 1
Holoprosencephaly 11 0 0 1 0 0 1
Holoprosencephaly 3 0 0 1 0 0 1
Holoprosencephaly 7 0 0 1 0 0 1
Hydatidiform mole, recurrent, 1 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant 0 0 1 0 0 1
Hyperalphalipoproteinemia 1 0 0 1 0 0 1
Hyperammonemia, type III 0 1 0 0 0 1
Hypercalcemia, infantile, 1 0 0 1 0 0 1
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 1 0 0 0 0 1
Hyperekplexia 3 0 0 1 0 0 1
Hyperinsulinism due to INSR deficiency 0 0 1 0 0 1
Hypermanganesemia with dystonia, polycythemia, and cirrhosis 0 0 1 0 0 1
Hyperparathyroidism, transient neonatal 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 1 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 0 1
Hypertrophic cardiomyopathy 17 0 0 1 0 0 1
Hypertrophic cardiomyopathy 25 0 0 1 0 0 1
Hypertrophic cardiomyopathy 6 0 0 1 0 0 1
Hypochondroplasia 1 0 0 0 0 1
Hypogonadotropic hypogonadism 11 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 18 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 22 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 1 0 0 0 0 1
Hypogonadotropic hypogonadism 8 with or without anosmia 0 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 1 0 0 1 0 0 1
Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 0 0 1
Hypomyelinating leukodystrophy 13 0 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 0 1 0 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 0 1
Hypoparathyroidism, familial isolated 1 0 0 1 0 0 1
Hypospadias 2, X-linked 0 0 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 0 1
Hypotrichosis 7 0 1 0 0 0 1
Ichthyosis, annular epidermolytic 1 0 0 1 0 0 1
Ichthyosis, annular epidermolytic, 2 0 1 0 0 0 1
Ichthyosis, congenital, autosomal recessive 13 0 0 1 0 0 1
Idiopathic generalized epilepsy 0 0 1 0 0 1
Imerslund-Grasbeck syndrome type 1 0 1 0 0 0 1
Immunodeficiency 18 0 0 1 0 0 1
Immunodeficiency 25 0 0 1 0 0 1
Immunodeficiency 27A 0 1 0 0 0 1
Immunodeficiency 32B 0 0 1 0 0 1
Immunodeficiency 49 0 0 1 0 0 1
Immunodeficiency 51 0 1 0 0 0 1
Immunodeficiency 57 0 0 1 0 0 1
Immunodeficiency 60 0 0 1 0 0 1
Immunodeficiency 63 with lymphoproliferation and autoimmunity 0 0 1 0 0 1
Immunodeficiency 64 0 1 0 0 0 1
Immunodeficiency 65, susceptibility to viral infections 0 0 1 0 0 1
Immunodeficiency 66 0 0 1 0 0 1
Immunodeficiency 87 and autoimmunity 0 1 0 0 0 1
Immunodeficiency 89 and autoimmunity 0 0 1 0 0 1
Immunodeficiency 94 with autoinflammation and dysmorphic facies 0 0 1 0 0 1
Immunodeficiency 96 0 0 1 0 0 1
Immunodeficiency 98 with autoinflammation, X-linked 0 0 1 0 0 1
Immunodeficiency, common variable, 1 0 1 0 0 0 1
Immunodeficiency, common variable, 2 0 0 1 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 1 0 0 0 1
Infantile cerebellar-retinal degeneration 0 0 1 0 0 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 0 1 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 0 1 0 0 1
Infantile liver failure syndrome 1 0 0 1 0 0 1
Infantile osteopetrosis with neuroaxonal dysplasia 0 1 0 0 0 1
Infantile-onset X-linked spinal muscular atrophy 0 0 1 0 0 1
Inflammatory bowel disease, immunodeficiency, and encephalopathy 0 1 0 0 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 0 1 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 1 0 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 0 1 0 0 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 0 1 0 0 1
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 0 1 0 0 1
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 0 1 0 0 0 1
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0 0 1 0 0 1
Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 0 1 0 0 1
Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0 0 1 0 0 1
Intellectual developmental disorder with severe speech and ambulation defects 0 0 1 0 0 1
Intellectual developmental disorder with short stature and variable skeletal anomalies 0 0 1 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 1 0 0 1
Intellectual developmental disorder, X-linked 108 0 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 70 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 72 1 0 0 0 0 1
Intellectual developmental disorder, autosomal recessive 76 0 0 1 0 0 1
Intellectual disability and myopathy syndrome 0 0 1 0 0 1
Intellectual disability, Wolff type 1 0 0 0 0 1
Intellectual disability, X-linked 100 0 0 1 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 1
Intellectual disability, X-linked 19 0 1 0 0 0 1
Intellectual disability, X-linked 61 0 0 1 0 0 1
Intellectual disability, X-linked 90 0 0 1 0 0 1
Intellectual disability, X-linked 93 0 0 1 0 0 1
Intellectual disability, X-linked 96 0 0 1 0 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 0 0 1 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 0 1
Intellectual disability, autosomal dominant 16 0 0 1 0 0 1
Intellectual disability, autosomal dominant 22 0 0 1 0 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 0 1
Intellectual disability, autosomal dominant 50 0 0 1 0 0 1
Intellectual disability, autosomal dominant 51 0 0 1 0 0 1
Intellectual disability, autosomal dominant 58 0 0 1 0 0 1
Intellectual disability, autosomal recessive 27 0 0 1 0 0 1
Intellectual disability, autosomal recessive 3 0 0 1 0 0 1
Intellectual disability, autosomal recessive 57 0 1 0 0 0 1
Intellectual disability, autosomal recessive 65 0 1 0 0 0 1
Intellectual disability, autosomal recessive 66 0 1 0 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 0 1
Interstitial lung disease 2 0 0 1 0 0 1
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 0 1 0 0 1
Islet cell adenomatosis 0 0 1 0 0 1
Isolated focal cortical dysplasia type II 0 0 1 0 0 1
Isolated growth hormone deficiency, type 5 0 0 1 0 0 1
Isolated neonatal sclerosing cholangitis 0 0 1 0 0 1
Jervell and Lange-Nielsen syndrome 1 0 0 1 0 0 1
Joubert syndrome 10 0 0 1 0 0 1
Joubert syndrome 15 0 1 0 0 0 1
Joubert syndrome 18 0 0 1 0 0 1
Joubert syndrome 27 0 0 1 0 0 1
Joubert syndrome 32 0 0 1 0 0 1
Joubert syndrome 33 0 0 1 0 0 1
Joubert syndrome 7 0 1 0 0 0 1
Joubert syndrome 9 0 0 1 0 0 1
Juvenile arthritis due to defect in LACC1 0 1 0 0 0 1
Juvenile polyposis syndrome 0 1 0 0 0 1
Juvenile retinoschisis 1 0 0 0 0 1
Kaya-Barakat-Masson syndrome 0 0 1 0 0 1
Keipert syndrome 0 0 1 0 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 0 0 0 1
Klippel-Feil syndrome 3, autosomal dominant 0 0 1 0 0 1
Krabbe disease due to saposin A deficiency 0 1 0 0 0 1
Kufor-Rakeb syndrome 0 1 0 0 0 1
Kugelberg-Welander disease 0 0 1 0 0 1
LIPE-related familial partial lipodystrophy 0 0 1 0 0 1
LZTR1-related schwannomatosis 0 1 0 0 0 1
Lactic aciduria due to D-lactic acid 0 0 1 0 0 1
Lattice corneal dystrophy Type I 1 0 0 0 0 1
Lazy leukocyte syndrome 0 0 1 0 0 1
Leber congenital amaurosis 13 1 0 0 0 0 1
Leber congenital amaurosis 14 1 0 0 0 0 1
Leber congenital amaurosis 15 0 1 0 0 0 1
Leber congenital amaurosis 5 0 0 1 0 0 1
Leber congenital amaurosis 9 0 1 0 0 0 1
Left ventricular noncompaction 7 0 0 1 0 0 1
Left ventricular noncompaction 8 0 0 1 0 0 1
Legius syndrome 0 0 1 0 0 1
Lesch-Nyhan syndrome 0 0 1 0 0 1
Lethal congenital contracture syndrome 1 0 1 0 0 0 1
Lethal congenital contracture syndrome 2 0 0 1 0 0 1
Lethal congenital contracture syndrome 4 0 0 1 0 0 1
Lethal congenital contracture syndrome 7 0 0 1 0 0 1
Lethal multiple pterygium syndrome 1 0 0 0 0 1
Lethal tight skin contracture syndrome 1 0 0 0 0 1
Leukocyte adhesion deficiency type II 0 0 1 0 0 1
Leukodystrophy, childhood-onset, remitting 0 0 1 0 0 1
Leukodystrophy, hypomyelinating, 15 0 0 1 0 0 1
Leukoencephalopathy with vanishing white matter 3 0 0 1 0 0 1
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0 0 1 0 0 1
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0 0 1 0 0 1
Leydig cell agenesis 0 0 1 0 0 1
Liberfarb syndrome 1 0 0 0 0 1
Lissencephaly 6 with microcephaly 0 1 0 0 0 1
Lissencephaly due to LIS1 mutation 0 1 0 0 0 1
Loeys-Dietz syndrome 1 0 0 1 0 0 1
Long QT syndrome 2 0 0 1 0 0 1
Long QT syndrome 6 0 1 0 0 0 1
Low phospholipid associated cholelithiasis 0 1 0 0 0 1
Lower urinary tract obstruction, congenital 0 0 1 0 0 1
Lung cancer 1 0 0 0 0 1
Luo-Schoch-Yamamoto syndrome 0 0 1 0 0 1
Lymphatic malformation 3 0 0 1 0 0 1
Lymphoproliferative syndrome 1 0 0 1 0 0 1
Lynch syndrome 8 0 0 1 0 0 1
MEDNIK syndrome 0 0 1 0 0 1
MEND syndrome 0 0 1 0 0 1
MHC class I deficiency 1 0 0 1 0 0 1
MYPN-related myopathy 0 0 1 0 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 1 0 0 1
Macrocephaly-autism syndrome 0 0 1 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 0 1 0 0 1
Macular degeneration, X-linked atrophic 0 0 1 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Mandibuloacral dysplasia progeroid syndrome 0 1 0 0 0 1
Mandibuloacral dysplasia with type A lipodystrophy 0 0 1 0 0 1