ClinVar Miner

Variants from GeneReviews

Location: United States  Primary collection method: literature only
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 association risk factor other not provided total
791 16 34 1 73 1 1 1 5342 6249

Gene and significance breakdown #

Total genes and gene combinations: 953
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
KCNQ2 12 0 0 0 0 0 0 0 162 174
LRRK2 0 0 25 0 0 0 0 0 117 142
GNPTAB 41 0 0 0 0 0 0 0 84 121
ASPM 1 0 0 0 0 0 0 0 100 101
SPG11 14 0 0 0 0 0 0 0 81 95
OTOF 6 0 0 0 1 0 0 0 86 93
GFAP 11 0 0 0 0 0 0 0 78 89
DEPDC5 0 0 0 0 0 0 0 0 65 65
RYR1 53 0 0 0 3 0 0 0 8 63
POLR3A 0 0 0 0 0 0 0 0 56 56
AIP 0 5 0 1 0 0 0 0 49 55
CYP27A1 50 0 0 0 3 0 0 0 2 55
TRPV4 1 0 0 0 0 0 0 0 51 52
MED12 0 0 0 0 0 0 0 0 50 50
CP 41 0 0 0 0 0 0 0 2 43
POLR3B 0 0 0 0 0 0 0 0 42 42
LYST 0 0 0 0 0 0 0 0 40 40
CLCN2 0 1 1 0 0 0 0 0 37 39
DKC1 0 0 0 0 0 0 0 0 37 37
SCN8A 1 0 0 0 0 0 0 0 36 37
TYMP 35 0 0 0 2 0 0 0 0 37
TRPS1 2 0 0 0 0 0 0 0 34 36
HBB, LOC106099062, LOC107133510 0 0 0 0 0 0 0 0 35 35
TERT 3 0 0 0 0 0 0 0 31 34
RRM2B 0 0 0 0 0 0 0 0 33 33
​intergenic 25 0 0 0 3 0 0 0 4 32
CYP4V2 32 0 0 0 0 0 0 0 0 32
SHH 25 0 0 0 7 0 0 0 0 32
FOXP2 18 0 0 0 0 0 0 0 13 31
MMUT 0 0 0 0 0 0 0 0 31 31
PRKCG 16 0 0 0 0 0 0 0 15 31
FLNB 0 0 0 0 0 0 0 0 29 29
LOC130067862, SCO2, TYMP 26 0 0 0 3 0 0 0 0 29
TUBB4A 1 0 0 0 0 0 0 0 28 29
CSF1R 3 0 0 0 0 0 0 0 25 28
GJB2 2 0 0 0 0 0 0 0 26 28
ESCO2 2 0 0 0 0 0 0 0 25 27
LOC110806306, TERC 27 0 0 0 0 0 0 0 0 27
CPT1A 1 0 0 0 0 0 0 0 25 26
KCNJ11 0 0 0 0 0 0 0 0 26 26
MPZ 4 0 0 0 0 0 0 0 22 26
SLC52A3 3 0 0 0 0 0 0 0 23 26
CFTR 0 0 0 0 1 0 0 0 24 25
LMNA 0 0 0 0 0 0 0 0 25 25
FGFR3 0 0 0 0 0 0 0 0 23 23
KCNQ3 0 0 0 0 0 0 0 0 23 23
MLH1 0 0 0 0 0 0 0 0 23 23
TFR2 0 0 0 0 0 0 0 0 23 23
USB1 0 0 0 0 0 0 0 0 23 23
CPT2 1 0 1 0 0 0 0 0 20 22
ETHE1 0 0 0 0 0 0 0 0 22 22
COMP 0 0 0 0 0 0 0 0 21 21
GBA1, LOC106627981 0 0 0 0 0 0 0 0 21 21
GFAP, LOC130060994 4 0 0 0 0 0 0 0 17 21
GLRA1 21 0 0 0 0 0 0 0 0 21
SCARB2 3 0 0 0 0 0 0 0 17 20
SLC2A10 0 0 0 0 0 0 0 0 20 20
BSCL2, HNRNPUL2-BSCL2 0 0 0 0 0 0 0 0 19 19
FERMT1 4 0 0 0 0 0 0 0 15 19
PYGL 1 0 0 0 0 0 0 0 18 19
SAMHD1 1 0 0 0 0 0 0 0 18 19
VWF 0 0 0 0 0 0 0 0 19 19
ATP1A3 0 0 0 0 0 0 0 0 18 18
CDK5RAP2 1 0 0 0 0 0 0 0 17 18
COQ8A 0 0 0 0 0 0 0 0 18 18
GH-LCR, SCN4A 1 0 0 0 0 0 0 0 17 18
AGPAT2 1 0 0 0 0 0 0 0 16 17
ALS2 17 0 0 0 0 0 0 0 0 17
ATRIP, ATRIP-TREX1, TREX1 3 0 0 0 0 0 0 0 14 17
GNPTG 3 0 0 0 0 0 0 0 14 17
H1-4 0 0 0 0 0 0 0 0 17 17
TTN 10 0 1 0 0 0 0 0 6 17
BBS4 4 0 0 0 12 0 0 0 0 16
CLPB 0 0 0 0 0 0 0 0 16 16
EHMT1 0 0 0 0 0 0 0 0 16 16
TARDBP 0 0 0 0 0 0 0 0 16 16
TINF2 0 0 0 0 0 0 0 0 16 16
TTPA 1 0 0 0 0 0 0 0 15 16
ARSA 0 0 0 0 0 0 0 0 15 15
CLCN5 3 0 0 0 0 0 0 0 12 15
CTNS 1 0 0 0 0 0 0 0 14 15
INS, INS-IGF2 0 0 0 0 0 0 0 0 15 15
MATN3 0 0 0 0 0 0 0 0 15 15
MMAA 0 0 0 0 0 0 0 0 15 15
MT-ND1 0 0 1 0 0 0 0 0 14 15
PCCB 1 0 0 0 0 0 0 0 14 15
BRAF 0 0 0 0 0 0 0 0 14 14
CLCN1 0 0 0 0 0 0 0 0 14 14
GJB1 0 0 0 0 0 0 0 0 14 14
MYH9 0 0 0 0 0 0 0 0 14 14
PSEN1 1 0 0 0 0 0 0 0 13 14
SERPINA1 9 0 0 0 1 0 0 0 4 14
SH3TC2 0 0 0 0 0 0 0 0 14 14
SLC25A13 0 0 0 0 0 0 0 0 14 14
SLC30A10 0 0 0 0 0 0 0 0 14 14
ABCC8 0 0 0 0 0 0 0 0 13 13
AGXT 0 0 0 0 0 0 0 0 13 13
CAPN3 0 0 0 0 0 0 0 0 13 13
DCC 1 0 0 0 0 0 0 0 12 13
DHCR7 0 0 0 0 0 0 0 0 13 13
GALT 1 0 0 0 3 0 0 0 9 13
GARS1 0 0 0 0 0 0 0 0 13 13
GBE1 10 0 0 0 0 0 0 0 3 13
GNE 0 0 0 0 0 0 0 0 13 13
IDUA 0 0 0 0 0 0 0 0 13 13
NBN 2 0 0 0 0 0 0 0 11 13
NPC1 0 0 0 0 0 0 0 0 13 13
POLR1C 0 0 0 0 0 0 0 0 13 13
PYGM 0 0 0 0 0 0 0 0 13 13
RECQL4 0 0 0 0 0 0 0 0 13 13
TWNK 0 0 0 0 0 0 0 0 13 13
VPS35 0 0 0 0 0 0 0 0 13 13
ASS1 2 0 0 0 0 0 0 0 10 12
ATL1 2 0 0 0 0 0 0 0 10 12
CYP21A2, LOC106780800 4 0 0 0 0 0 0 0 8 12
DBH 0 0 0 0 1 0 0 0 11 12
FOXL2 1 0 0 0 1 0 0 0 10 12
GNAS 0 0 0 0 0 0 0 0 12 12
LRP2 0 0 0 0 0 0 0 0 12 12
MT-ND5 0 0 1 0 0 0 0 0 11 12
MT-ND6 0 0 0 0 0 0 0 0 12 12
PMM2 0 0 0 0 0 0 0 0 12 12
PRPS1 0 0 0 0 0 0 0 0 12 12
PTPN11 0 0 0 0 0 0 0 0 12 12
TPM3 0 0 0 0 0 0 0 0 12 12
AFG3L2 0 0 0 0 0 0 0 0 11 11
ATM 10 0 0 0 0 0 0 0 1 11
COL4A1 0 0 0 0 0 0 0 0 11 11
COQ8B 0 0 0 0 0 0 0 0 11 11
CSTB 0 0 0 0 0 0 0 0 11 11
DDX3X 0 0 0 0 0 0 0 0 11 11
FAH 0 0 0 0 0 0 0 0 11 11
FLNA 1 0 0 0 0 0 0 0 10 11
GALC 0 0 0 0 0 0 0 0 11 11
GATA1 0 0 0 0 0 0 0 0 11 11
HBB, LOC107133510, LOC110006319 0 0 0 0 0 0 0 0 11 11
HGD 0 0 0 0 0 0 0 0 11 11
MMAB 0 0 0 0 0 0 0 0 11 11
MSH2 1 0 0 0 0 0 0 0 10 11
MUTYH 2 0 0 0 0 0 0 0 9 11
SLC12A5 0 0 0 0 0 0 0 0 11 11
SLC52A2 0 0 0 0 0 0 0 0 11 11
SOST 0 0 0 0 0 0 0 0 11 11
TUBB3 1 0 0 0 0 0 0 0 10 11
VCAN 0 0 0 0 0 0 0 0 11 11
AGL 0 0 0 0 0 0 0 0 10 10
ATM, C11orf65 3 0 0 0 0 0 0 0 7 10
ATP6V0A2 1 0 0 0 1 0 0 0 8 10
DDX41 0 0 0 0 0 0 0 0 10 10
LOC100287944, POLR3B 0 0 0 0 0 0 0 0 10 10
LOC126862264, MEFV 0 0 0 0 0 0 0 0 10 10
MCOLN1 2 0 0 0 0 0 0 0 8 10
MYO7A 1 0 0 0 0 0 0 0 9 10
NPC2 0 0 0 0 0 0 0 0 10 10
OCRL 8 0 0 0 0 0 0 0 2 10
OPA1 0 0 0 0 0 0 0 0 10 10
PEX7 0 0 0 0 0 0 0 0 10 10
PMP22 1 0 0 0 0 0 0 0 9 10
POLG, POLGARF 0 0 0 0 0 0 0 0 10 10
RAB3GAP1 0 0 0 0 0 0 0 0 10 10
SATB2 0 0 0 0 0 0 0 0 10 10
SCN1A, SCN9A 0 0 0 0 0 0 0 0 10 10
SLC26A2 0 0 0 0 0 0 0 0 10 10
SLC6A5 9 0 0 0 0 0 0 0 1 10
STXBP1 0 0 0 0 0 0 0 0 10 10
TFAP2B 0 0 0 0 0 0 0 0 10 10
UROS 1 0 0 0 0 0 0 0 9 10
ACTG2 0 0 0 0 0 0 0 0 9 9
AIP, LOC130006206 0 0 0 0 0 0 0 0 9 9
ALDOB 0 0 0 0 0 0 0 0 9 9
CEBPA 0 0 0 0 0 0 0 0 9 9
CENPJ 0 0 0 0 0 0 0 0 9 9
DNAJC6 0 0 0 0 0 0 0 0 9 9
EFEMP2 0 0 0 0 0 0 0 0 9 9
FAM111B 0 0 0 0 0 0 0 0 9 9
FGFR1 0 0 0 0 0 0 0 0 9 9
GALNS 0 0 0 0 0 0 0 0 9 9
GCDH 0 0 0 0 0 0 0 0 9 9
GNB1 0 0 0 0 0 0 0 0 9 9
HTRA1 1 0 0 0 0 0 0 0 8 9
KCNQ4 2 0 0 0 0 0 0 0 7 9
MT-ATP6 1 0 0 0 0 0 0 0 9 9
NOTCH3 0 0 0 0 0 0 0 0 9 9
NTRK1 1 0 0 0 0 0 0 0 8 9
SBDS 0 0 0 0 0 0 0 0 9 9
SCN4A 0 0 0 0 0 0 0 0 9 9
SMPD1 0 0 0 0 0 0 0 0 9 9
STIL 0 0 0 0 0 0 0 0 9 9
TOR1A 0 0 0 0 0 0 0 0 9 9
UMOD 0 0 0 0 0 0 0 0 9 9
ALPL 0 0 0 0 0 0 0 0 8 8
CACNA1A 0 0 0 0 0 0 0 0 8 8
CACNA1C 0 0 0 0 0 0 0 0 8 8
CACNA1S 0 0 0 0 0 0 0 0 8 8
CDKN1C 0 0 0 0 0 0 0 0 8 8
COQ2 0 0 0 0 0 0 0 0 8 8
CPLANE1 1 0 0 0 0 0 0 0 7 8
EBF3 0 0 0 0 0 0 0 0 8 8
EGR2 0 0 0 0 0 0 0 0 8 8
FGF3 0 0 0 0 0 0 0 0 8 8
LITAF 0 0 0 0 0 0 0 0 8 8
MECP2 0 0 0 0 0 0 0 0 8 8
MSH6 0 0 0 0 0 0 0 0 8 8
NAGLU 0 0 0 0 0 0 0 0 8 8
NKX6-2 0 0 0 0 0 0 0 0 8 8
RNASEH2A 0 0 0 0 0 0 0 0 8 8
SLC16A2 0 0 0 0 0 0 0 0 8 8
SLC25A15 0 0 0 0 0 0 0 0 8 8
SLC39A14 0 0 0 0 0 0 0 0 8 8
WNK4 0 0 0 0 0 0 0 0 8 8
ZAP70 0 0 0 0 0 0 0 0 8 8
ACTA1 0 0 0 0 0 0 0 0 7 7
ADA2 0 0 0 0 0 0 0 0 7 7
AIPL1 0 0 0 0 0 0 0 0 7 7
ANO5 0 0 0 0 0 0 0 0 7 7
ASPA, SPATA22 0 0 0 0 0 0 0 0 7 7
CCND2 0 0 0 0 0 0 0 0 7 7
CHMP2B 0 0 0 0 0 0 0 0 7 7
COL7A1 0 0 0 0 0 0 0 0 7 7
COQ6, ENTPD5 0 0 0 0 0 0 0 0 7 7
DVL1 0 0 0 0 0 0 0 0 7 7
ECM1 0 0 0 0 0 0 0 0 7 7
EIF2B5 0 0 0 0 0 0 0 0 7 7
FASLG 0 0 0 0 0 0 0 0 7 7
FBLN5 0 0 0 0 0 0 0 0 7 7
FTL 0 0 0 0 0 0 0 0 7 7
G6PC1 0 0 0 0 0 0 0 0 7 7
GALE 2 0 0 0 0 0 0 0 5 7
HBA2, LOC106804612 1 0 0 0 0 0 0 0 6 7
KCNJ2 0 0 0 0 0 0 0 0 7 7
LARS2 0 0 0 0 0 0 0 0 7 7
LGI1 1 0 0 0 0 0 0 0 6 7
MLC1 0 0 0 0 0 0 0 0 7 7
MMADHC 0 0 0 0 0 0 0 0 7 7
NEFL 0 0 0 0 0 0 0 0 7 7
NSDHL 0 0 0 0 0 0 0 0 7 7
PAH 0 0 0 0 0 0 0 0 7 7
PIK3R1 0 0 0 0 0 0 0 0 7 7
PRNP 1 0 0 0 1 0 0 0 5 7
RUNX2 0 0 0 0 0 0 0 0 7 7
SIX1 0 0 0 0 0 0 0 0 7 7
SIX3 4 0 0 0 3 0 0 0 0 7
SLC26A4 0 0 0 0 0 0 0 0 7 7
SLC2A1 0 0 0 0 0 0 0 0 7 7
SMAD4 0 0 0 0 0 0 0 0 7 7
SPINK1 0 0 0 0 0 0 0 0 7 7
TRIO 0 0 0 0 0 0 0 0 7 7
TSC2 0 0 0 0 0 0 0 0 7 7
WRN 0 0 0 0 0 0 0 0 7 7
AGRN 1 0 0 0 0 0 0 0 5 6
ALK 0 0 0 0 0 0 0 0 6 6
APRT 0 0 0 0 0 0 0 0 6 6
ARSL 0 0 0 0 0 0 0 0 6 6
ATP8B1 0 0 0 0 0 0 0 0 6 6
ATXN10, LOC107181287, LOC108660404 4 0 0 0 1 0 0 0 1 6
CDC73 0 0 0 0 0 0 0 0 6 6
CHCHD10 1 0 0 0 0 0 0 0 5 6
CLCN5, LOC126863258 0 0 0 0 0 0 0 0 6 6
DNAAF11 0 0 0 0 0 0 0 0 6 6
DVL3 0 0 0 0 0 0 0 0 6 6
EPB42 0 0 0 0 0 0 0 0 6 6
FGD4 0 0 0 0 0 0 0 0 6 6
GAA 0 0 0 0 0 0 0 0 6 6
GCK 1 0 0 0 0 0 0 0 5 6
GDAP1 0 0 0 0 0 0 0 0 6 6
GLB1 0 0 0 0 0 0 0 0 6 6
GNB5 0 0 0 0 0 0 0 0 6 6
HCFC1 0 0 0 0 0 0 0 0 6 6
HFE 0 0 0 0 0 0 0 0 6 6
IRF6 0 0 0 0 0 0 0 0 6 6
KANSL1 0 0 0 0 0 0 0 0 6 6
KAT6B 0 0 0 0 0 0 0 0 6 6
LOC130067864, TYMP 6 0 0 0 0 0 0 0 0 6
LPIN2 0 0 0 0 0 0 0 0 6 6
MCPH1 0 0 0 0 0 0 0 0 6 6
MEFV 0 0 0 0 0 0 0 0 6 6
MMACHC 0 0 0 0 0 0 0 0 6 6
MT-TK 0 0 0 0 0 0 0 0 6 6
MT-TL1 0 0 0 0 0 0 0 0 6 6
MT-TS1 0 0 0 0 0 0 0 0 6 6
NF1 0 0 0 0 0 0 0 0 6 6
PCCA 0 0 0 0 0 0 0 0 6 6
PMS2 0 0 0 0 0 0 0 0 6 6
PNPLA6 0 0 0 0 0 0 0 0 6 6
POLH, POLR1C 1 0 0 0 0 0 0 0 5 6
PPP2R5D 0 0 0 0 0 0 0 0 6 6
PRKAR1A 1 0 0 0 0 0 0 0 5 6
SCN9A 0 0 0 0 0 0 0 0 6 6
SLC12A6 0 0 0 0 0 0 0 0 6 6
SLC33A1 0 0 0 0 0 0 0 0 6 6
SMS 0 0 0 0 0 0 0 0 6 6
SP110, SP140 1 0 0 0 0 0 0 0 5 6
SUMF1 0 0 0 0 0 0 0 0 6 6
SUOX 1 0 0 0 0 0 0 0 5 6
TBC1D24 0 0 0 0 0 0 0 0 6 6
TK2 1 0 0 0 0 0 0 0 5 6
TREM2 1 0 0 0 0 0 0 0 5 6
TXNL4A 1 0 0 0 0 0 0 0 5 6
ADAMTSL2 0 0 0 0 0 0 0 0 5 5
ADCY5 0 0 0 0 0 0 0 0 5 5
ADNP 0 0 0 0 0 0 0 0 5 5
ATP1A2 0 0 0 0 0 0 0 0 5 5
BRCA1 0 0 0 0 0 0 0 0 5 5
BTD 0 0 0 0 0 0 0 0 5 5
CDK13 0 0 0 0 0 0 0 0 5 5
CFTR, LOC111674475 0 0 0 0 0 0 0 0 5 5
CHM 0 0 0 0 0 0 0 0 5 5
CLCN7 0 0 0 0 0 0 0 0 5 5
COL2A1 0 0 0 0 0 0 0 0 5 5
COQ4 0 0 0 0 0 0 0 0 5 5
CTRC 1 0 0 0 0 1 0 0 3 5
DCN 0 0 0 0 0 0 0 0 5 5
DYSF 0 0 0 0 0 0 0 0 5 5
ELANE 0 0 0 0 0 0 0 0 5 5
EPOR 0 0 0 0 0 0 0 0 5 5
F2 0 0 0 0 0 0 0 0 5 5
FH 0 0 0 0 0 0 0 0 5 5
GRIN2A 0 0 0 0 0 0 0 0 5 5
IDUA, SLC26A1 1 0 0 0 0 0 0 0 4 5
IFT122 0 0 0 0 0 0 0 0 5 5
JAG1 0 0 0 0 0 0 0 0 5 5
KRAS 0 0 0 0 0 0 0 0 5 5
KRT6A 0 0 0 0 0 0 0 0 5 5
LAMA2 1 0 0 0 0 0 0 0 4 5
LOC130057891, MESP2 3 0 0 0 0 0 0 0 2 5
LOC130067862, TYMP 5 0 0 0 0 0 0 0 0 5
MAN2B1 0 0 0 0 0 0 0 0 5 5
MESP2 1 0 0 0 3 0 0 0 1 5
MKKS 2 0 0 0 3 0 0 0 0 5
MPV17 1 0 0 0 0 0 0 0 4 5
MT-CO1, MT-TS1 0 0 0 0 0 0 0 0 5 5
MT-ND3 0 0 0 0 0 0 0 0 5 5
MT-ND4 0 0 0 0 0 0 0 0 5 5
MTTP 0 0 0 0 0 0 0 0 5 5
MYCN 0 0 0 0 0 0 0 0 5 5
NHLRC1 0 0 0 0 0 0 0 0 5 5
OPA3 0 0 0 0 0 0 0 0 5 5
PCDH15 0 0 0 0 0 0 0 0 5 5
PCSK9 0 0 0 0 0 0 0 0 5 5
PIK3CA 1 0 0 0 0 0 0 0 4 5
PROP1 0 0 0 0 0 0 0 0 5 5
PRX 0 0 0 0 0 0 0 0 5 5
PURA 0 0 0 0 0 0 0 0 5 5
RELN 0 0 0 0 0 0 0 0 5 5
RFC1 0 0 0 0 1 0 0 0 4 5
SALL4 0 0 0 0 0 0 0 0 5 5
SDHD 0 0 0 0 0 0 0 0 5 5
SPG7 0 0 0 0 0 0 0 0 5 5
STAC3 0 0 0 0 0 0 0 0 5 5
STAT3 0 0 0 0 0 0 0 0 5 5
TGFB1 0 0 0 0 0 0 0 0 5 5
UNC13D 0 0 0 0 0 0 0 0 5 5
USH2A 0 2 0 0 0 0 0 0 3 5
WNK1 0 0 0 0 0 0 0 0 5 5
ZIC2 5 0 0 0 0 0 0 0 0 5
ABCB7 2 0 0 0 0 0 0 0 2 4
APC 0 0 0 0 0 0 0 0 4 4
APP 0 0 0 0 0 0 0 0 4 4
AR, LOC109504725 1 0 1 0 1 0 1 0 0 4
ASAH1 0 0 0 0 0 0 0 0 4 4
BRCA2 0 0 0 0 0 0 0 0 4 4
CA5A 0 0 0 0 0 0 0 0 4 4
CASP10 0 0 0 0 0 0 0 0 4 4
CASQ2 0 0 0 0 0 0 0 0 4 4
CDH23 0 0 0 0 0 0 0 0 4 4
CLPB, LOC126861258 0 0 0 0 0 0 0 0 4 4
CRLF1 0 0 0 0 0 0 0 0 4 4
DNAAF1 3 0 0 0 0 0 0 0 2 4
ENPP1 0 0 0 0 0 0 0 0 4 4
EZH2 0 0 0 0 0 0 0 0 4 4
FANCA 0 0 0 0 0 0 0 0 4 4
FANCC 0 0 0 0 0 0 0 0 4 4
FANCG 0 0 0 0 0 0 0 0 4 4
FGF3, LOC109115964 0 0 0 0 0 0 0 0 4 4
FGFR2 0 0 0 0 0 0 0 0 4 4
G6PC3 0 0 0 0 0 0 0 0 4 4
GRHPR 0 0 0 0 1 0 0 0 3 4
HEPACAM 0 0 0 0 0 0 0 0 4 4
HGSNAT 0 0 0 0 0 0 0 0 4 4
HPS1 0 0 0 0 0 0 0 0 4 4
HSD17B4 0 0 0 0 0 0 0 0 4 4
HTT, LOC109461479, LOC129929027 0 0 0 0 1 0 0 0 3 4
HYCC1 0 0 0 0 0 0 0 0 4 4
INVS 0 0 0 0 0 0 0 0 4 4
KCNA1 1 0 0 0 0 0 0 0 3 4
KCNT1 0 0 0 0 0 0 0 0 4 4
KRT14 1 0 0 0 0 0 0 0 3 4
LAMB3 1 0 0 0 0 0 0 0 3 4
LOC110806263, TERT 0 0 0 0 0 0 0 0 4 4
LOC126860971, POLR3A 0 0 0 0 0 0 0 0 4 4
MAP2K1 0 0 0 0 0 0 0 0 4 4
MBD5 0 0 0 0 0 0 0 0 4 4
MT-CO3 0 0 0 0 0 0 0 0 4 4
MT-TV 0 0 0 0 0 0 0 0 4 4
MT-TW 0 0 0 0 0 0 0 0 4 4
MYH7 0 0 0 0 0 0 0 0 4 4
NRAS 0 0 0 0 0 0 0 0 4 4
PANK2 0 0 0 0 0 0 0 0 4 4
PDX1 1 0 0 0 0 0 0 0 3 4
PEPD 0 0 0 0 0 0 0 0 4 4
POGZ 0 0 0 0 0 0 0 0 4 4
PRF1 0 0 0 0 0 0 0 0 4 4
PRSS1, TRB 0 0 0 0 0 0 0 0 4 4
RAB18 0 0 0 0 0 0 0 0 4 4
RAD51 0 0 0 0 0 0 0 0 4 4
RAF1 0 0 0 0 0 0 0 0 4 4
RSPH4A 1 0 0 0 0 0 0 0 3 4
SACS 0 0 0 0 0 0 0 0 4 4
SAMD9 0 0 0 0 0 0 0 0 4 4
SAMD9L 0 0 0 0 0 0 0 0 4 4
SARM1, SLC46A1 0 0 0 0 0 0 0 0 4 4
SCN5A 0 0 0 0 0 0 0 0 4 4
SERPINE1 0 0 0 0 0 0 0 1 3 4
SGSH 0 0 0 0 0 0 0 0 4 4
SLC46A1 0 0 0 0 0 0 0 0 4 4
SLC7A7 0 0 0 0 0 0 0 0 4 4
SPATA7 0 0 0 0 0 0 0 0 4 4
SPRED1 0 0 0 0 2 0 0 0 2 4
SPTLC1 0 0 0 0 0 0 0 0 4 4
STXBP2 0 0 0 0 0 0 0 0 4 4
TCOF1 0 0 0 0 0 0 0 0 4 4
TERC 4 0 0 0 0 0 0 0 0 4
THOC6 1 0 0 0 0 0 0 0 3 4
TMEM67 0 0 0 0 0 0 0 0 4 4
TSEN54 0 0 0 0 0 0 0 0 4 4
TUBA1A 0 0 0 0 0 0 0 0 4 4
USH1C 0 1 0 0 0 0 0 0 3 4
WASHC5 0 0 0 0 0 0 0 0 4 4
WNT5A 0 0 0 0 0 0 0 0 4 4
WRAP53 0 0 0 0 0 0 0 0 4 4
XK 0 0 0 0 0 0 0 0 4 4
ACADS 0 0 0 0 0 0 0 0 3 3
ACTB 0 0 0 0 0 0 0 0 3 3
ADAMTSL4 0 0 0 0 0 0 0 0 3 3
AHDC1 0 0 0 0 0 0 0 0 3 3
AKT3 0 0 0 0 0 0 0 0 3 3
ALAS2 0 0 0 0 0 0 0 0 3 3
ALDH7A1 0 0 0 0 0 0 0 0 3 3
AMT 1 0 0 0 0 0 0 0 2 3
APOB 0 0 0 0 0 0 0 0 3 3
ARMS2, HTRA1 0 0 0 0 0 0 0 0 3 3
ASL 0 0 0 0 0 0 0 0 3 3
ATN1, LOC109461484 2 0 0 0 1 0 0 0 0 3
B3GLCT 0 0 0 0 0 0 0 0 3 3
BCKDHB 0 0 0 0 0 0 0 0 3 3
C19orf12 0 0 0 0 0 0 0 0 3 3
C2orf88, MSTN 1 0 0 0 0 0 0 0 2 3
CBS 0 0 0 0 0 0 0 0 3 3
CCDC39 3 0 0 0 0 0 0 0 0 3
CDAN1 1 0 0 0 0 0 0 0 2 3
CFH 0 0 0 0 0 0 0 0 3 3
CHRNA4 0 0 0 0 0 0 0 0 3 3
CLN6 0 0 0 0 0 0 0 0 3 3
COL4A5 1 0 0 0 0 0 0 0 2 3
COL6A1 0 0 0 0 0 0 0 0 3 3
COX7B 0 0 0 0 0 0 0 0 3 3
CRYAB 0 0 0 0 0 0 0 0 3 3
CYP21A2, LOC106780800, TNXB 0 0 0 0 0 0 0 0 3 3
DARS2 1 0 0 0 0 0 0 0 2 3
DNAH5 0 0 0 0 0 0 0 0 3 3
EDARADD 0 0 0 0 0 0 0 0 3 3
ELOVL5 0 0 0 0 0 0 0 0 3 3
EXOSC3 1 0 0 0 0 0 0 0 2 3
F5 0 0 0 0 0 0 0 0 3 3
FKBP14 0 0 0 0 0 0 0 0 3 3
FLCN 0 0 0 0 0 0 0 0 3 3
FMO3 0 0 0 0 0 0 0 0 3 3
FMO3, LOC126805916 1 1 0 0 0 0 0 0 1 3
FN1 0 0 0 0 0 0 0 0 3 3
GAMT 0 0 0 0 0 0 0 0 3 3
GLA, RPL36A-HNRNPH2 0 0 0 0 0 0 0 0 3 3
GLDC 1 0 0 0 0 0 0 0 2 3
GNAL 0 0 0 0 0 0 0 0 3 3
GRN 0 0 0 0 0 0 0 0 3 3
HARS2 0 0 0 0 0 0 0 0 3 3
HBA1, HBA2, LOC106804612, LOC106804613 3 0 0 0 0 0 0 0 0 3
HCCS 0 0 0 0 0 0 0 0 3 3
HNRNPK 0 0 0 0 0 0 0 0 3 3
INS 0 0 0 0 0 0 0 0 3 3
ISCA2 0 0 0 0 0 0 0 0 3 3
JUP 0 0 0 0 0 0 0 0 3 3
KCNQ1 0 0 0 0 0 0 0 0 3 3
LCA5 0 0 0 0 0 0 0 0 3 3
LOC110120802, LOC130000981, LOC130000982, TRPS1 3 0 0 0 0 0 0 0 0 3
LOC117038795, RNASEH2A 0 0 0 0 0 0 0 0 3 3
LOC126806462, SATB2 0 0 0 0 0 0 0 0 3 3
LOC126861897, MHRT, MYH7 0 0 0 0 0 0 0 0 3 3
LOC130063295, TUBB4A 0 0 0 0 0 0 0 0 3 3
MAP2K2 0 0 0 0 0 0 0 0 3 3
MCEE 0 0 0 0 0 0 0 0 3 3
MID1 0 0 0 0 0 0 0 0 3 3
MN1 0 0 0 0 0 0 0 0 3 3
MT-CYB 0 0 1 0 0 0 0 0 2 3
MT-ND2 0 0 0 0 0 0 0 0 3 3
MVP-DT, PRRT2 0 0 0 0 0 0 0 0 3 3
NGLY1 0 0 0 0 0 0 0 0 3 3
NHP2, RMND5B 0 0 0 0 0 0 0 0 3 3
PAX2 0 0 0 0 0 0 0 0 3 3
PDSS1 0 0 0 0 0 0 0 0 3 3
PLP1, RAB9B 0 0 0 0 0 0 0 0 3 3
POLR1B 0 0 0 0 0 0 0 0 3 3
POT1 0 0 0 0 0 0 0 0 3 3
PRKN 0 0 0 0 1 0 0 0 2 3
PTEN 0 0 0 0 0 0 0 0 3 3
RAB3GAP2 0 0 0 0 0 0 0 0 3 3
RANBP2 0 0 0 0 0 0 0 0 3 3
RAPSN 0 0 0 0 0 0 0 0 3 3
RYR2 0 0 0 0 0 0 0 0 3 3
SEPTIN9 0 0 0 0 0 0 0 0 3 3
SLC37A4 0 0 0 0 0 0 0 0 3 3
SLC45A2 0 0 0 0 0 0 0 0 3 3
SLC6A9 0 0 0 0 0 0 0 0 3 3
SLITRK6 0 0 0 0 0 0 0 0 3 3
SRP54 0 0 0 0 0 0 0 0 3 3
TH 0 0 0 0 0 0 0 0 3 3
TIMM8A 0 0 0 0 1 0 0 0 2 3
TTBK2 0 0 0 0 0 0 0 0 3 3
UBA1 0 0 0 0 0 0 0 0 3 3
UROD 0 0 0 0 0 0 0 0 3 3
USH1G 1 1 0 0 0 0 0 0 2 3
VLDLR 0 0 0 0 0 0 0 0 3 3
VPS13B 0 0 0 0 0 0 0 0 3 3
WT1 0 0 0 0 0 0 0 0 3 3
XPA 0 0 0 0 0 0 0 0 3 3
ACADVL 0 0 0 0 0 0 0 0 2 2
ACD 0 0 0 0 0 0 0 0 2 2
ADAR 0 0 0 0 0 0 0 0 2 2
ADGRV1 0 2 0 0 0 0 0 0 0 2
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A 2 0 0 0 0 0 0 0 0 2
AGRN, LOC126805576 0 0 0 0 0 0 0 0 2 2
AOPEP, FANCC 0 0 0 0 0 0 0 0 2 2
APBB1, SMPD1 0 0 0 0 0 0 0 0 2 2
AR 0 0 0 0 2 0 0 0 0 2
ARID1B 0 0 0 0 0 0 0 0 2 2
ATF6 0 0 0 0 0 0 0 0 2 2
ATP7A 0 0 0 0 0 0 0 0 2 2
ATP7B 0 0 0 0 0 0 0 0 2 2
ATXN3, LOC108663987 1 0 0 0 1 0 0 0 0 2
BAAT 0 0 0 0 0 0 0 0 2 2
BBS1, ZDHHC24 2 0 0 0 0 0 0 0 0 2
BLM 0 0 0 0 0 0 0 0 2 2
C9orf72, LOC109504728, LOC129929032 1 0 0 0 1 0 0 0 0 2
CALM1 0 0 0 0 0 0 0 0 2 2
CATSPER1 0 0 0 0 0 0 0 0 2 2
CCDC22 0 0 0 0 0 0 0 0 2 2
CCDC40 2 0 0 0 0 0 0 0 0 2
CD40LG 0 0 0 0 0 0 0 0 2 2
CDIN1 0 0 0 0 0 0 0 0 2 2
CENPJ, RNF17 0 0 0 0 0 0 0 0 2 2
CEP290 1 0 0 0 0 0 0 0 2 2
CLN3 1 0 0 0 0 0 0 0 1 2
CLPP 0 0 0 0 0 0 0 0 2 2
CNGB3 0 0 0 0 0 0 0 0 2 2
COG4 0 0 0 0 0 0 0 0 2 2
COL1A1 0 0 0 0 0 0 0 0 2 2
COL6A2 0 0 0 0 0 0 0 0 2 2
COL6A3 0 0 0 0 0 0 0 0 2 2
COQ9 1 0 0 0 0 0 0 0 1 2
CRH 0 0 0 0 0 0 0 0 2 2
CSTB, LOC130066788 0 0 0 0 0 0 0 0 2 2
CTNNA3 0 0 0 0 0 0 0 0 2 2
CYBB 0 0 0 0 0 0 0 0 2 2
CYP1B1 0 0 0 0 0 0 0 0 2 2
DNAAF2 0 0 0 0 0 0 0 0 2 2
DNAI1 0 0 0 0 0 0 0 0 2 2
DNAJC21 0 0 0 0 0 0 0 0 2 2
ECHS1 0 0 0 0 0 0 0 0 2 2
EDAR, RANBP2 0 0 0 0 0 0 0 0 2 2
EFEMP2, MUS81 0 0 0 0 0 0 0 0 2 2
EFL1 0 0 0 0 0 0 0 0 2 2
EIF2B3 0 0 0 0 0 0 0 0 2 2
ELP1 0 0 0 0 0 0 0 0 2 2
EPM2A 0 0 0 0 0 0 0 0 2 2
EPM2A, EPM2A-DT, LOC129997381 0 0 0 0 0 0 0 0 2 2
ERCC1 0 0 0 0 0 0 0 0 2 2
ERCC2 0 0 0 0 0 0 0 0 2 2
ETHE1, LOC130064595 0 0 0 0 0 0 0 0 2 2
F8 0 0 0 0 1 0 0 0 1 2
F9 0 0 0 0 0 0 0 0 2 2
FARS2, LOC126859565 0 0 0 0 0 0 0 0 2 2
FBN2 0 0 0 0 0 0 0 0 2 2
G6PC3, LOC130060959 0 0 0 0 0 0 0 0 2 2
GATM 0 0 0 0 0 0 0 0 2 2
GBA1 0 0 0 0 0 0 0 0 2 2
GJB6 0 0 0 0 0 0 0 0 2 2
GJC2 0 0 0 0 0 0 0 0 2 2
GLIS2 0 0 0 0 0 0 0 0 2 2
GLRB 2 0 0 0 0 0 0 0 0 2
GPD1L 0 0 0 0 0 0 0 0 2 2
GPR101 0 0 0 0 0 0 0 0 2 2
HBA1, LOC106804613 1 0 0 0 0 0 0 0 1 2
HOGA1 0 0 0 0 0 0 0 0 2 2
HPS3 1 0 0 0 0 0 0 0 1 2
HPSE2 0 0 0 0 0 0 0 0 2 2
IDS 0 0 0 0 0 0 0 0 2 2
IDS, LOC106050102 0 0 0 0 0 0 0 0 2 2
IL2RG 0 0 0 0 0 0 0 0 2 2
INSR 0 0 0 0 0 0 0 0 2 2
ISCU 0 0 0 0 0 0 0 0 2 2
KCNJ5 0 0 0 0 0 0 0 0 2 2
KCNK9 2 0 0 0 0 0 0 0 0 2
KCNQ2, LOC125387319 1 0 0 0 0 0 0 0 1 2
KIF1A 2 0 0 0 0 0 0 0 0 2
KMT2B 0 0 0 0 0 0 0 0 2 2
KRIT1 0 0 0 0 0 0 0 0 2 2
KRT5 0 0 0 0 0 0 0 0 2 2
LIPA 0 0 0 0 0 0 0 0 2 2
LIX1L, LOC126805851, RBM8A 0 0 0 0 0 0 0 0 2 2
LOC107075317, SIX5 0 0 0 0 0 0 0 0 2 2
LOC109504727, LOC130065308, NOP56 1 0 0 0 1 0 0 0 0 2
LOC129391106, RYR1 1 0 0 0 1 0 0 0 0 2
LOC129935594, PNKD 0 0 0 0 0 0 0 0 2 2
LOC130062794, TXNL4A 0 0 0 0 0 0 0 0 2 2
LOC130065805, SAMHD1 2 0 0 0 0 0 0 0 0 2
LZTFL1 0 0 0 0 0 0 0 0 2 2
MAGEL2 0 0 0 0 0 0 0 0 2 2
MFSD8 2 0 0 0 0 0 0 0 0 2
MT-RNR1 0 0 2 0 0 0 0 0 0 2
MT-TF 0 0 0 0 0 0 0 0 2 2
MT-TH 0 0 0 0 0 0 0 0 2 2
MTM1 0 0 0 0 0 0 0 0 2 2
MTRR 0 0 0 0 0 0 0 0 2 2
NCF4 0 0 0 0 0 0 0 0 2 2
NDUFB11 0 0 0 0 0 0 0 0 2 2
NIPAL4 0 0 0 0 0 0 0 0 2 2
NME8 0 0 0 0 0 0 0 0 2 2
NPHP1 1 0 0 0 0 0 0 0 1 2
NPHP3, NPHP3-ACAD11 0 0 0 0 0 0 0 0 2 2
NPHP4 0 0 0 0 0 0 0 0 2 2
ODAD3 0 0 0 0 0 0 0 0 2 2
OFD1 2 0 0 0 0 0 0 0 0 2
PAFAH1B1 0 0 0 0 0 0 0 0 2 2
PCNT 0 0 0 0 0 0 0 0 2 2
PDGFRB 0 0 0 0 0 0 0 0 2 2
PDSS2 0 0 0 0 0 0 0 0 2 2
PEX1 0 0 0 0 0 0 0 0 2 2
PHKB 0 0 0 0 0 0 0 0 2 2
PINK1 0 0 0 0 0 0 0 0 2 2
PLOD1 0 0 0 0 0 0 0 0 2 2
PPT1 0 0 0 0 0 0 0 0 2 2
PRICKLE1 0 0 0 0 0 0 0 0 2 2
PSEN2 0 0 0 0 0 0 0 0 2 2
RAD21 0 0 0 0 0 0 0 0 2 2
RIPPLY2, RIPPLY2-CYB5R4 0 0 0 0 0 0 0 0 2 2
RPGRIP1 0 0 0 0 0 0 0 0 2 2
RSPH1 0 0 0 0 0 0 0 0 2 2
SALL1 0 0 0 0 0 0 0 0 2 2
SAR1B 0 0 0 0 0 0 0 0 2 2
SCN11A 0 0 0 0 0 0 0 0 2 2
SDHAF2 0 0 0 0 0 0 0 0 2 2
SETD2 0 0 0 0 0 0 0 0 2 2
SETX 0 0 0 0 0 0 0 0 2 2
SLC17A5 0 0 0 0 0 0 0 0 2 2
SLC20A2 0 0 0 0 0 0 0 0 2 2
SLC25A19 0 0 0 0 0 0 0 0 2 2
SLC40A1 2 0 0 0 0 0 0 0 0 2
SLC6A8 0 0 0 0 0 0 0 0 2 2
SLITRK1 0 0 0 0 0 0 0 0 2 2
SMARCB1 0 0 0 0 0 0 0 0 2 2
SOX9 0 0 0 0 0 0 0 0 2 2
SPAG1 0 0 0 0 0 0 0 0 2 2
SPAST 0 0 0 0 0 0 0 0 2 2
SRCAP 0 0 0 0 0 0 0 0 2 2
TEK 0 0 0 0 0 0 0 0 2 2
TGIF1 0 0 0 0 2 0 0 0 0 2
TGM5 0 0 0 0 0 0 0 0 2 2
TPP1 1 0 0 0 0 0 0 0 1 2
TYR 0 0 0 0 0 0 0 0 2 2
TYROBP 0 0 0 0 0 0 0 0 2 2
WAC 0 0 0 0 0 0 0 0 2 2
WDR19 0 0 0 0 0 0 0 0 2 2
WNT10A 0 0 0 0 0 0 0 0 2 2
ZNF143 0 0 0 0 0 0 0 0 2 2
A2ML1, ACRBP, ACSM4, ADIPOR2, AICDA, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf4, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FAM138D, FAM66C, FAM90A1, FBXL14, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, KLRG1, LAG3, LINC00937, LINC00940, LINC00942, LINC02371, LINC02417, LINC02443, LINC02449, LINC02455, LINC02827, LINC02972, LOC100128253, LOC100507560, LOC102723544, LOC105369595, LOC105369617, LOC105369632, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108942766, LOC109461484, LOC112136100, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121832825, LOC121832826, LOC124625876, LOC124625877, LOC124625878, LOC124625879, LOC124625880, LOC124625881, LOC124625882, LOC124625883, LOC124625884, LOC124625885, LOC124625886, LOC124625887, LOC124625889, LOC124625890, LOC124625892, LOC124625893, LOC124625895, LOC124625896, LOC124625897, LOC124625898, LOC124625899, LOC124625900, LOC124906977, LOC126861410, LOC126861411, LOC126861412, LOC126861413, LOC126861414, LOC126861415, LOC126861416, LOC126861417, LOC126861418, LOC126861419, LOC126861420, LOC126861421, LOC126861422, LOC126861423, LOC126861424, LOC126861425, LOC126861426, LOC126861427, LOC126861428, LOC126861429, LOC126861430, LOC126861431, LOC126861432, LOC126861433, LOC126861434, LOC126861435, LOC126861436, LOC126861437, LOC126861438, LOC126861439, LOC126861440, LOC126861441, LOC126861442, LOC126861443, LOC126861444, LOC129390385, LOC129390386, LOC129390387, LOC129390388, LOC129390389, LOC129390390, LOC129390391, LOC129390392, LOC129390393, LOC129390394, LOC129390395, LOC130007132, LOC130007133, LOC130007134, LOC130007135, LOC130007136, LOC130007137, LOC130007138, LOC130007139, LOC130007140, LOC130007141, LOC130007142, LOC130007143, LOC130007144, LOC130007145, LOC130007146, LOC130007147, LOC130007148, LOC130007149, LOC130007150, LOC130007151, LOC130007152, LOC130007153, LOC130007154, LOC130007155, LOC130007156, LOC130007157, LOC130007158, LOC130007159, LOC130007160, LOC130007161, LOC130007162, LOC130007163, LOC130007164, LOC130007165, LOC130007166, LOC130007167, LOC130007168, LOC130007169, LOC130007170, LOC130007171, LOC130007172, LOC130007173, LOC130007174, LOC130007175, LOC130007176, LOC130007177, LOC130007178, LOC130007179, LOC130007180, LOC130007181, LOC130007182, LOC130007183, LOC130007184, LOC130007185, LOC130007186, LOC130007187, LOC130007188, LOC130007189, LOC130007190, LOC130007191, LOC130007192, LOC130007193, LOC130007194, LOC130007195, LOC130007196, LOC130007197, LOC130007198, LOC130007199, LOC130007200, LOC130007201, LOC130007202, LOC130007203, LOC130007204, LOC130007205, LOC130007206, LOC130007207, LOC130007208, LOC130007209, LOC130007210, LOC130007211, LOC130007212, LOC130007213, LOC130007214, LOC130007215, LOC130007216, LOC130007217, LOC130007218, LOC130007219, LOC130007220, LOC130007221, LOC130007222, LOC130007223, LOC130007224, LOC130007225, LOC130007226, LOC130007227, LOC130007228, LOC130007229, LOC130007230, LOC130007231, LOC130007232, LOC130007233, LOC130007234, LOC130007235, LOC130007236, LOC130007237, LOC130007238, LOC130007239, LOC130007240, LOC130007241, LOC130007242, LOC130007243, LOC130007244, LOC130007245, LOC130007246, LOC130007247, LOC130007248, LOC130007249, LOC130007250, LOC130007251, LOC130007252, LOC130007253, LOC130007254, LOC130007255, LOC130007256, LOC130007257, LOC130007258, LOC130007259, LOC130007260, LOC130007261, LOC130007262, LOC130007263, LOC130007264, LOC130007265, LOC130007266, LOC130007267, LOC130007268, LOC130007269, LOC130007270, LOC130007271, LOC130007272, LOC130007273, LOC130007274, LOC130007275, LOC130007276, LOC130007277, LOC130007278, LOC130007279, LOC130007280, LOC130007281, LOC130007282, LOC130007283, LOC130007284, LOC130007285, LOC130007286, LOC130007287, LOC130007288, LOC130007289, LOC130007290, LOC130007291, LOC130007292, LOC130007293, LOC130007294, LOC130007295, LOC130007296, LOC130007297, LOC130007298, LOC130007299, LOC130007300, LOC130007301, LOC130007302, LOC130007303, LOC130007304, LOC130007305, LOC130007306, LOC130007307, LOC130007308, LOC130007309, LOC130007310, LOC130007311, LOC130007312, LOC130007313, LOC130007314, LOC130007315, LOC130007316, LOC130007317, LOC130007318, LOC130007319, LOC130007320, LOC130007321, LOC130007322, LOC130007323, LOC130007324, LOC130007325, LOC130007326, LOC130007327, LOC130007328, LOC130007329, LOC130007330, LOC130007331, LOC130007332, LOC130007333, LOC130007334, LOC130007335, LOC130007336, LOC130007337, LOC130007338, LOC130007339, LOC132090142, LOC574538, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, M6PR, MFAP5, MIR141, MIR200C, MIR200CHG, MIR3649, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PHC1, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SNORA120, SPSB2, TAPBPL, TEAD4, TEX52, THCAT155, TIGAR, TNFRSF1A, TPI1, TSPAN9, TSPAN9-IT1, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 0 0 0 0 0 0 0 0 1 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 0 0 0 1
ABCA13, ABCB1, ABCB4, ABHD11, ACHE, ACTL6B, ADAM22, ADCY1, ADCYAP1R1, AEBP1, AGFG2, AKAP9, ALKBH4, AMPH, ANKIB1, ANLN, AOAH, AP1S1, AP4M1, AQP1, ARMC10, ARPC1A, ARPC1B, ASB4, ASL, ASNS, ATP5MF, ATP5MF-PTCD1, ATXN7L1, AUTS2, AVL9, AZGP1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BHLHA15, BLVRA, BMPER, BMT2, BRI3, BUD23, BUD31, C7orf25, C7orf31, C7orf57, C7orf76, CACNA2D1, CALCR, CALN1, CAMK2B, CASD1, CASTOR2, CBLL1, CBX3, CCDC126, CCDC146, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CD36, CDCA7L, CDHR3, CDK13, CDK14, CDK6, CFAP69, CHCHD2, CHN2, CLDN12, CLDN15, CLDN3, CLDN4, CLIP2, CNPY4, COA1, COBL, COG5, COL1A2, COL26A1, COPS6, CPSF4, CPVL, CRCP, CREB5, CRHR2, CROT, CUX1, CYCS, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP51A1, DBF4, DBNL, DDC, DDX56, DLD, DLX5, DLX6, DMTF1, DNAH11, DNAJB9, DNAJC2, DNAJC30, DOCK4, DPY19L1, DTX2, DUS4L, DYNC1I1, EEPD1, EGFR, EIF4H, ELAPOR2, ELMO1, ELN, EPDR1, EPHB4, EPO, ERV3-1, ERVW-1, EVX1, FAM133B, FAM185A, FAM200A, FAM221A, FBXL13, FBXO24, FGL2, FIGNL1, FIS1, FKBP14, FKBP6, FKBP9, FOXP2, FZD1, FZD9, GAL3ST4, GALNT17, GARS1, GATAD1, GCK, GGCT, GHRHR, GIGYF1, GJC3, GLI3, GNAI1, GNAT3, GNB2, GNG11, GNGT1, GPC2, GPNMB, GPR141, GPR22, GPR85, GRB10, GRM3, GSAP, GSDME, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, H2AZ2, HBP1, HECW1, HECW1-IT1, HEPACAM2, HERPUD2, HGF, HIBADH, HIP1, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HSPB1, HUS1, HYCC1, IFRD1, IFT22, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IMMP2L, INHBA, INMT, ITPRID1, JAZF1, KBTBD2, KCTD7, KLHL7, KLHL7-DT, KMT2E, KPNA7, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LHFPL3, LIMK1, LINC02860, LINC02902, LINC02903, LMTK2, LRCH4, LRRC17, LRRD1, LRRN3, LRWD1, LSM5, LSMEM1, MAGI2, MALSU1, MATCAP2, MBLAC1, MCM7, MDH2, MEPCE, METTL27, MINDY4, MIR106B, MIR148A, MIR196B, MIR25, MIR489, MIR590, MIR93, MLXIPL, MOGAT3, MOSPD3, MPLKIP, MRPL32, MRPS17, MRPS24, MTERF1, MTURN, MUC12, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NEUROD6, NFE2L3, NFE4, NIPSNAP2, NME8, NOD1, NPC1L1, NPSR1, NPTX2, NPVF, NPY, NRCAM, NSUN5, NT5C3A, NUDCD3, NUP42, NUPR2, NYAP1, OCM2, OGDH, OR2AE1, ORAI2, ORC5, OSBPL3, PALS2, PCLO, PCOLCE, PDAP1, PDE1C, PDK4, PEG10, PEX1, PGAM2, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLEKHA8, PLOD3, PMPCB, PNPLA8, POLD2, POLM, POLR2J, POLR2J2, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POU6F2, PPIA, PPP1R17, PPP1R35, PPP1R3A, PPP1R9A, PRKAR2B, PRKRIP1, PRR15, PSMA2, PSMC2, PSPH, PTCD1, PTPN12, PURB, PUS7, PVRIG, RABGEF1, RALA, RAMP3, RAPGEF5, RASA4, RASA4B, RBM48, RCC1L, RELN, RFC2, RHBDD2, RINT1, RP9, RSBN1L, RUNDC3B, SAMD9, SAMD9L, SAP25, SBDS, SCRN1, SDHAF3, SEC61G, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPTIN14, SEPTIN7, SERPINE1, SFRP4, SGCE, SH2B2, SKAP2, SLC12A9, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A5, SMURF1, SNHG15, SNORA5C, SNX10, SP4, SPACDR, SPATA48, SPDYE1, SPDYE2, SPDYE2B, SPDYE3, SPDYE5, SPDYE6, SRI, SRPK2, SRRM3, SRRT, SSC4D, STAG3, STARD3NL, STEAP1, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN3, SYPL1, TAC1, TAF6, TARP, TAX1BP1, TBL2, TBRG4, TBX20, TECPR1, TEX47, TFPI2, TFR2, THAP5, TMED4, TMEM120A, TMEM130, TMEM168, TMEM243, TMEM248, TMEM270, TMEM60, TNS3, TOMM7, TPST1, TRA2A, TRAPPC14, TRIL, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRRAP, TSC22D4, TYW1, TYW1B, UBE2D4, UFSP1, UPK3BL1, UPP1, URGCP, VGF, VKORC1L1, VOPP1, VPS37D, VPS41, VPS50, VSTM2A, VWC2, WIPF3, YAE1, YKT6, YWHAG, ZAN, ZASP, ZCWPW1, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF273, ZNF277, ZNF3, ZNF394, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF735, ZNF736, ZNF789, ZNF804B, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZSCAN21, ZSCAN25 1 0 0 0 0 0 0 0 0 1
ABCC8, KCNJ11 0 0 0 0 0 0 0 0 1 1
ABCD1 0 0 0 0 0 0 0 0 1 1
ACTG1 0 0 0 0 0 0 0 0 1 1
ACTRT1, DCAF12L1, LOC113875008, LOC121627978, LOC121853067, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 0 0 1
ACTRT3, LOC110806306, TERC 1 0 0 0 0 0 0 0 0 1
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516 1 0 0 0 0 0 0 0 0 1
ADNP2, CTDP1, HSBP1L1, KCNG2, RBFA, SLC66A2, TXNL4A 1 0 0 0 0 0 0 0 0 1
AGRN, LOC129929078 0 0 0 0 0 0 0 0 1 1
AIP, LOC130006204 0 1 0 0 0 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 0 0 0 1
AKT1 0 0 0 0 0 0 0 0 1 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 0 0 0 0 0 1
ALX4 1 0 0 0 0 0 0 0 0 1
ANKRD11 0 0 0 0 0 0 0 0 1 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP 1 0 0 0 0 0 0 0 0 1
APOE 0 0 0 0 0 0 0 0 1 1
ATP6V0A2, LOC126861666 0 0 0 0 0 0 0 0 1 1
ATP7B, LOC130009838 0 0 0 0 0 0 0 0 1 1
ATRX 0 0 0 0 0 0 0 0 1 1
ATXN2 0 0 0 0 0 0 0 0 1 1
ATXN2, LOC130008791, LOC130008792 0 0 0 0 0 0 0 0 1 1
ATXN3 0 0 0 0 0 0 0 0 1 1
BAG3 0 0 0 0 0 0 0 0 1 1
BBIP1 0 0 0 0 0 0 0 0 1 1
BBS1 1 0 0 0 0 0 0 0 0 1
BCKDHA 0 0 0 0 0 0 0 0 1 1
BCOR 0 0 0 0 0 0 0 0 1 1
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, MELTF, NCBP2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, UBXN7, WDR53, ZDHHC19 1 0 0 0 0 0 0 0 0 1
C10orf105, CDH23 0 0 0 0 0 0 0 0 1 1
C17orf107, CHRNE 0 0 0 0 0 0 0 0 1 1
C17orf107, CHRNE, LOC125177409, LOC130060043 1 0 0 0 0 0 0 0 0 1
C17orf107, CHRNE, MINK1 0 0 0 0 0 0 0 0 1 1
CACNA1F 1 0 0 0 0 0 0 0 0 1
CACNB2 0 0 0 0 0 0 0 0 1 1
CARD14, SGSH 0 0 0 0 0 0 0 0 1 1
CCDC107, RMRP 1 0 0 0 0 0 0 0 0 1
CCDC39, TTC14 1 0 0 0 0 0 0 0 0 1
CCM2 1 0 0 0 0 0 0 0 0 1
CCM2, LOC129998395 0 0 0 0 0 0 0 0 1 1
CDC42BPA, COQ8A, LOC126806036, LOC129388764, LOC129932683 1 0 0 0 0 0 0 0 0 1
CENPT, THAP11 0 0 0 0 0 0 0 0 1 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 0 0 1
CFI 0 0 0 0 0 0 0 0 1 1
CFL2 1 0 0 0 0 0 0 0 0 1
CFTR, LOC111674468, LOC111674477 1 0 0 0 0 0 0 0 0 1
CFTR, LOC113633877 0 0 0 0 0 0 0 0 1 1
CFTR, LOC113664106, LOC113664107 0 0 0 0 0 0 0 0 1 1
CHAT 0 0 0 0 0 0 0 0 1 1
CHRNA2 0 0 0 0 0 0 0 0 1 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 0 0 0 1
CHRNE 0 0 0 0 0 0 0 0 1 1
CIB2 0 0 0 0 0 0 0 0 1 1
CLCN5, LOC126863258, LOC130068287, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 0 0 0 0 0 0 1
CLN5 0 0 0 0 0 0 0 0 1 1
CLN5, LOC130009913 0 0 0 0 0 0 0 0 1 1
CLN8 0 0 0 0 0 0 0 0 1 1
CLPP, LOC130063288 0 0 0 0 0 0 0 0 1 1
COL5A1 0 0 0 0 0 0 0 0 1 1
COL5A1, LOC101448202 0 0 0 0 0 0 0 0 1 1
COL9A1 0 0 0 0 0 0 0 0 1 1
COL9A2 0 0 0 0 0 0 0 0 1 1
COQ2, LOC112997540 0 0 0 0 0 0 0 0 1 1
COQ4, LOC130002704 0 0 0 0 0 0 0 0 1 1
CPT1A, LOC126861244 0 0 0 0 0 0 0 0 1 1
CPT2, LOC129930561 0 0 0 0 0 0 0 0 1 1
CRB1 0 0 0 0 0 0 0 0 1 1
CRH, LOC130000523 0 0 0 0 0 0 0 0 1 1
CRLF1, LOC112543470 1 0 0 0 0 0 0 0 0 1
CRLF1, LOC130064021 0 0 0 0 0 0 0 0 1 1
CRX 0 0 0 0 0 0 0 0 1 1
CRYL1, GJB2, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 0 0 0 0 1
CRYL1, GJB2, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, MIR4499 1 0 0 0 0 0 0 0 0 1
CSPP1 0 0 0 0 0 0 0 0 1 1
CSTB, LOC109029533, LOC130066788 1 0 0 0 0 0 0 0 0 1
CTDP1 0 0 0 0 0 0 0 0 1 1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 1 0 0 0 0 0 0 0 0 1
CYBA 0 0 0 0 0 0 0 0 1 1
CYP21A2, LOC106780800, LOC110631417 0 0 0 0 0 0 0 0 1 1
CYP4V2, LOC129993526 1 0 0 0 0 0 0 0 0 1
DCAF17 0 0 0 0 0 0 0 0 1 1
DCTN1 0 0 0 0 0 0 0 0 1 1
DDX11 0 0 0 0 0 0 0 0 1 1
DES 0 0 0 0 0 0 0 0 1 1
DKC1, LOC130068886 1 0 0 0 0 0 0 0 0 1
DLD 1 0 0 0 0 0 0 0 0 1
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040 0 0 0 0 1 0 0 0 0 1
DM1, LOC107075317, SIX5 0 0 0 0 0 0 0 0 1 1
DNAAF2, LOC130055542 0 0 0 0 0 0 0 0 1 1
DNAAF5 0 0 0 0 0 0 0 0 1 1
DNAH1 0 0 0 0 0 0 0 0 1 1
DNAH11 0 0 0 0 0 0 0 0 1 1
DNAI2 0 0 0 0 0 0 0 0 1 1
DNAL1 1 0 0 0 0 0 0 0 1 1
DOK7 0 0 0 0 0 0 0 0 1 1
DVL1, LOC129929114 0 0 0 0 0 0 0 0 1 1
DYRK1A 0 0 0 0 0 0 0 0 1 1
DYSF, LOC110121121 0 0 0 0 0 0 0 0 1 1
EIF2B2 0 0 0 0 0 0 0 0 1 1
ELP4, PAX6 0 0 0 0 0 0 0 0 1 1
EPCAM 0 0 0 0 0 0 0 0 1 1
ERAL1, LOC126862526 0 0 0 0 0 0 0 0 1 1
ETV6 0 0 0 0 0 0 0 0 1 1
FDFT1, LOC129999903 0 0 0 0 0 0 0 0 1 1
FECH 0 0 0 0 0 0 0 0 1 1
FERMT1, LOC130065404 1 0 0 0 0 0 0 0 0 1
FGF23 0 0 0 0 0 0 0 0 1 1
FIG4 0 0 0 0 0 0 0 0 1 1
FOXP2, RFC3 1 0 0 0 0 0 0 0 0 1
GALC, LOC130056217 0 0 0 0 0 0 0 0 1 1
GALNS, LOC130059762, TRAPPC2L 0 0 0 0 0 0 0 0 1 1
GALT, LOC130001682, LOC130001683 1 0 0 0 0 0 0 0 0 1
GAMT, LOC130062945 0 0 0 0 0 0 0 0 1 1
GAMT, NDUFS7 0 0 0 0 0 0 0 0 1 1
GCDH, KLF1, LOC117125594 0 0 0 0 0 0 0 0 1 1
GCDH, LOC126862860, SYCE2 0 0 0 0 0 0 0 0 1 1
GLI3 1 0 0 0 0 0 0 0 0 1
GLRA1, LOC123575602 1 0 0 0 0 0 0 0 0 1
GNAT2 0 0 0 0 0 0 0 0 1 1
GPHN 1 0 0 0 0 0 0 0 0 1
GPHN, RDH12, ZFYVE26 0 0 0 0 0 0 0 0 1 1
GUCY2D 1 0 0 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 0 0 0 1
HBA1, HBA2, LOC106804612 0 0 0 0 0 0 0 0 1 1
HBA2 1 0 0 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 0 0 0 0 0 0 0 0 1 1
HES7 0 0 0 0 0 0 0 0 1 1
HK1 0 0 0 0 0 0 0 0 1 1
HPS1, MIR4685 0 0 0 0 0 0 0 0 1 1
HPS4 0 0 0 0 0 0 0 0 1 1
HPS6 0 0 0 0 0 0 0 0 1 1
HSD17B4, LOC129994460 0 0 0 0 0 0 0 0 1 1
IFT122, LOC129937552 0 0 0 0 0 0 0 0 1 1
IFT43 0 0 0 0 0 0 0 0 1 1
IKBKG 0 0 0 0 0 0 0 0 1 1
IMMP2L, LRRN3 1 0 0 0 0 0 0 0 0 1
IQCB1 0 0 0 0 0 0 0 0 1 1
ISCA1 0 0 0 0 0 0 0 0 1 1
ISCA1, LOC130001967 0 0 0 0 0 0 0 0 1 1
ITGB4 0 0 0 0 0 0 0 0 1 1
ITPR1 0 0 0 0 0 0 0 0 1 1
KCNQ2, LOC129391211 0 0 0 0 0 0 0 0 1 1
KIAA0586 0 0 0 0 0 0 0 0 1 1
KL 0 0 0 0 0 0 0 0 1 1
KRT17 0 0 0 0 0 0 0 0 1 1
KRT5, LOC126861525 0 0 0 0 0 0 0 0 1 1
LAMA3 1 0 0 0 0 0 0 0 0 1
LAMA3, LOC126862707 1 0 0 0 0 0 0 0 0 1
LAMC2 0 0 0 0 0 0 0 0 1 1
LCA5, LOC129996749, SH3BGRL2 1 0 0 0 0 0 0 0 0 1
LDB3, LOC110121486 0 0 0 0 0 0 0 0 1 1
LDLR 1 0 0 0 0 0 0 0 0 1
LFNG 0 0 0 0 0 0 0 0 1 1
LMBRD1 0 0 0 0 0 0 0 0 1 1
LMNA, LOC126805877 0 0 0 0 0 0 0 0 1 1
LMNA, LOC129931597 0 0 0 0 0 0 0 0 1 1
LOC106029312, NCF1 1 0 0 0 0 0 0 0 0 1
LOC110008580, ZIC2 1 0 0 0 0 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 0 0 0 1
LOC112840921, OTOF 0 0 0 0 0 0 0 0 1 1
LOC113687175, TFR2 0 0 0 0 0 0 0 0 1 1
LOC123956210, SLC26A4 0 0 0 0 0 0 0 0 1 1
LOC123987612, LOC129999780, LOC129999781, MCPH1 1 0 0 0 0 0 0 0 0 1
LOC125446261, MLC1 0 0 0 0 0 0 0 0 1 1
LOC126653391, RSPH1 0 0 0 0 0 0 0 0 1 1
LOC126805851, RBM8A 0 0 0 0 0 0 0 0 1 1
LOC126806063, LYST 0 0 0 0 0 0 0 0 1 1
LOC126806068, RYR2 0 0 0 0 0 0 0 0 1 1
LOC126859871, PRKN 0 0 0 0 0 0 0 0 1 1
LOC126860075, POR 0 0 0 0 0 0 0 0 1 1
LOC126860130, RELN, SLC26A5 0 0 0 0 0 0 0 0 1 1
LOC126860498, WASHC5 0 0 0 0 0 0 0 0 1 1
LOC126860970, POLR3A 0 0 0 0 0 0 0 0 1 1
LOC126861339, SDHD 0 0 0 0 0 0 0 0 1 1
LOC126863275, MED12 0 0 0 0 0 0 0 0 1 1
LOC128706665, LOC128706666, MKKS 0 0 0 0 1 0 0 0 0 1
LOC129388752, SLC30A10 1 0 0 0 0 0 0 0 0 1
LOC129930446, MMACHC 0 0 0 0 0 0 0 0 1 1
LOC129931648, NTRK1 0 0 0 0 0 0 0 0 1 1
LOC129933334, OTOF 0 0 0 0 0 0 0 0 1 1
LOC129933695, MSH2 0 0 0 0 0 0 0 0 1 1
LOC129935184, TTN 0 0 0 0 0 0 0 0 1 1
LOC129937871, TERC 1 0 0 0 0 0 0 0 0 1
LOC129997052, RSPH4A 0 0 0 0 0 0 0 0 1 1
LOC129998833, SLC25A13 0 0 0 0 0 0 0 0 1 1
LOC130000829, LOC130000830, POLR2K, SPAG1 1 0 0 0 0 0 0 0 0 1
LOC130000896, RRM2B 0 0 0 0 0 0 0 0 1 1
LOC130002772, TOR1A 0 0 0 0 0 0 0 0 1 1
LOC130004143, POLR3A, RPS24 0 0 0 0 0 0 0 0 1 1
LOC130007151, WNK1 0 0 0 0 0 0 0 0 1 1
LOC130007700, PRICKLE1 0 0 0 0 0 0 0 0 1 1
LOC130056971, SPG11 0 0 0 0 0 0 0 0 1 1
LOC130056973, SPG11 0 0 0 0 0 0 0 0 1 1
LOC130059156, TK2 1 0 0 0 0 0 0 0 0 1
LOC130064269, LOC130064270, LOC130064271, TYROBP 0 0 0 0 0 0 0 0 1 1
LOC130064510, TGFB1 0 0 0 0 0 0 0 0 1 1
MATN3, WDR35-DT 0 0 0 0 0 0 0 0 1 1
MEA1, PPP2R5D 0 0 0 0 0 0 0 0 1 1
MEN1 0 0 0 0 0 0 0 0 1 1
MHRT, MYH7 0 0 0 0 0 0 0 0 1 1
MIR103A2, MIR103B2, PANK2 0 0 0 0 0 0 0 0 1 1
MKS1 0 0 0 0 0 0 0 0 1 1
MSX2 0 0 0 0 0 0 0 0 1 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 0 0 0 0 0 0 0 0 1 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 0 0 0 0 0 0 0 0 1 1
MT-CO1 0 0 0 0 0 0 0 0 1 1
MT-ND1, MT-RNR1 1 0 0 0 0 0 0 0 0 1
MT-ND4L 0 0 0 0 0 0 0 0 1 1
MT-RNR1, MT-TS1 0 0 0 0 0 0 0 0 1 1
MT-TL2 0 0 0 0 0 0 0 0 1 1
MT-TQ 0 0 0 0 0 0 0 0 1 1
MT-TS2 0 0 0 0 0 0 0 0 1 1
MTMR2 0 0 0 0 0 0 0 0 1 1
MTR 0 0 0 0 0 0 0 0 1 1
MUC1 0 0 0 0 0 0 0 0 1 1
MYCN, MYCNOS 0 0 0 0 0 0 0 0 1 1
MYOT, PKD2L2-DT 0 0 0 0 0 0 0 0 1 1
NAA10 0 0 0 0 0 0 0 0 1 1
NDRG1 0 0 0 0 0 0 0 0 1 1
NEB 1 0 0 0 0 0 0 0 0 1
NMNAT1 0 0 0 0 0 0 0 0 1 1
NOP10 0 0 0 0 0 0 0 0 1 1
ODAD1 0 0 0 0 0 0 0 0 1 1
ODAD2 0 0 0 0 0 0 0 0 1 1
PDE6H 0 0 0 0 0 0 0 0 1 1
PEX10 0 0 0 0 0 0 0 0 1 1
PEX6 0 0 0 0 0 0 0 0 1 1
PHKA2 0 0 0 0 0 0 0 0 1 1
PIK3R2 0 0 0 0 0 0 0 0 1 1
PKD1 0 0 0 0 0 0 0 0 1 1
PLA2G6 0 0 0 0 0 0 0 0 1 1
PLEC 0 0 0 0 0 0 0 0 1 1
PNKD 0 0 0 0 0 0 0 0 1 1
PNPLA1 0 0 0 0 0 0 0 0 1 1
POLR1D 0 0 0 0 0 0 0 0 1 1
POR 0 0 0 0 0 0 0 0 1 1
PPOX 0 0 0 0 0 0 0 0 1 1
PRSS1 1 0 0 0 0 0 0 0 0 1
RBM8A 0 0 0 0 0 0 0 0 1 1
RD3 0 0 0 0 0 0 0 0 1 1
RELN, SLC26A5 0 0 0 0 0 0 0 0 1 1
RPGRIP1L 1 0 0 0 0 0 0 0 1 1
RPS7 1 0 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 0 0 0 0 0 0 1 1
SCN1A 0 0 0 0 0 0 0 0 1 1
SCN3A 0 0 0 0 0 0 0 0 1 1
SCN3B 0 0 0 0 0 0 0 0 1 1
SELENON 0 0 0 0 0 0 0 0 1 1
SGPL1 0 0 0 0 0 0 0 0 1 1
SGSH, SLC26A11 0 0 0 0 0 0 0 0 1 1
SHANK3 0 0 0 0 0 0 0 0 1 1
SIX5 0 0 0 0 0 0 0 0 1 1
SLC27A4 0 0 0 0 0 0 0 0 1 1
SLC52A1 1 0 0 0 0 0 0 0 0 1
SMARCC2 0 0 0 0 0 0 0 0 1 1
SMN2 0 0 0 0 0 0 0 0 1 1
SPR 1 0 0 0 0 0 0 0 0 1
STX11 0 0 0 0 0 0 0 0 1 1
SUCLA2 0 0 0 0 0 0 0 0 1 1
TAF1 1 0 0 0 0 0 0 0 0 1
TANGO2 0 0 0 0 0 0 0 0 1 1
TBX6 0 0 0 0 0 0 0 0 1 1
TGM1 0 0 0 0 0 0 0 0 1 1
TGM1, TINF2 0 0 0 0 0 0 0 0 1 1
TMEM216 0 0 0 0 0 0 0 0 1 1
TMEM237 1 0 0 0 0 0 0 0 0 1
TMEM43 0 0 0 0 0 0 0 0 1 1
TNNT1 0 0 0 0 0 0 0 0 1 1
TPM2 0 0 0 0 0 0 0 0 1 1
TSEN2 0 0 0 0 0 0 0 0 1 1
TSEN34 0 0 0 0 0 0 0 0 1 1
TUBB2B 0 0 0 0 0 0 0 0 1 1
WDR35 0 0 0 0 0 0 0 0 1 1
WFS1 0 0 0 0 0 0 0 0 1 1
XPC 0 0 0 0 0 0 0 0 1 1
ZMYND10 0 0 0 0 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 767
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Autosomal dominant Parkinson disease 8 0 0 25 0 0 0 0 0 117 142
Alexander disease 15 0 0 0 0 0 0 0 95 110
Seizures, benign familial neonatal, 1 11 0 0 0 0 0 0 0 91 102
Microcephaly 5, primary, autosomal recessive 1 0 0 0 0 0 0 0 100 101
Hereditary spastic paraplegia 11 15 0 0 0 0 0 0 0 83 98
Autosomal recessive nonsyndromic hearing loss 9 6 0 0 0 1 0 0 0 88 95
Mucolipidosis type II 27 0 0 0 0 0 0 0 64 91
Mitochondrial DNA depletion syndrome 1 72 0 0 0 5 0 0 0 0 77
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 0 0 0 67 68
Central core myopathy 62 0 0 0 4 0 0 0 0 66
Somatotroph adenoma 0 8 0 1 0 0 0 0 57 66
Epilepsy, familial focal, with variable foci 1 0 0 0 0 0 0 0 0 65 65
Permanent neonatal diabetes mellitus 2 0 0 0 0 0 0 0 61 63
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 0 0 0 0 0 0 0 62 62
Cholestanol storage disease 56 0 0 0 3 0 0 0 2 61
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 0 0 0 0 0 0 0 52 52
FG syndrome 1 0 0 0 0 0 0 0 0 51 51
Lynch syndrome 1 1 0 0 0 0 0 0 0 49 50
Dyskeratosis congenita, autosomal dominant 1 21 0 0 0 0 0 0 0 28 49
Deficiency of ferroxidase 41 0 0 0 0 0 0 0 2 43
beta Thalassemia 0 0 0 0 0 0 0 0 42 42
Chédiak-Higashi syndrome 0 0 0 0 0 0 0 0 41 41
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 1 1 0 0 0 0 0 37 39
Trichorhinophalangeal dysplasia type I 5 0 0 0 0 0 0 0 34 39
Developmental and epileptic encephalopathy, 13 1 0 0 0 0 0 0 0 36 37
Leigh syndrome 1 0 0 0 0 0 0 0 36 37
Dyskeratosis congenita, X-linked 1 0 0 0 0 0 0 0 35 36
Leber optic atrophy 0 0 3 0 0 0 0 0 33 36
Childhood apraxia of speech 21 0 0 0 0 0 0 0 13 34
RRM2B-related mitochondrial disease 0 0 0 0 0 0 0 0 34 34
Bietti crystalline corneoretinal dystrophy 33 0 0 0 0 0 0 0 0 33
Holoprosencephaly 3 26 0 0 0 7 0 0 0 0 33
Hypomyelinating leukodystrophy 6 1 0 0 0 0 0 0 0 31 32
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 0 0 0 0 32 32
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 0 0 0 0 0 0 0 31 31
Spinocerebellar ataxia type 14 16 0 0 0 0 0 0 0 15 31
Usher syndrome type 1 1 6 0 0 0 0 0 0 24 31
Pseudo-Hurler polydystrophy 9 0 0 0 0 0 0 0 20 29
Hereditary diffuse leukoencephalopathy with spheroids 3 0 0 0 0 0 0 0 25 28
Multiple epiphyseal dysplasia 0 0 0 0 0 0 0 0 28 28
Skeletal dysplasia 0 0 0 0 0 0 0 0 28 28
Carnitine palmitoyl transferase 1A deficiency 1 0 0 0 0 0 0 0 26 27
Cystic fibrosis 0 0 0 0 0 0 0 0 27 27
Perrault syndrome 0 0 0 0 0 0 0 0 27 27
Roberts-SC phocomelia syndrome 2 0 0 0 0 0 0 0 25 27
Brown-Vialetto-van Laere syndrome 1 3 0 0 0 0 0 0 0 23 26
Congenital myopathy with fiber type disproportion 0 0 0 0 0 0 0 0 26 26
Hereditary pancreatitis 3 0 0 0 1 1 0 0 21 26
Seizures, benign familial neonatal, 2 1 0 0 0 0 0 0 0 25 26
Bardet-Biedl syndrome 9 0 0 0 16 0 0 0 0 25
Charcot-Marie-Tooth disease type 1B 3 0 0 0 0 0 0 0 22 25
Aplastic anemia 12 0 0 0 0 0 0 0 12 24
Ethylmalonic encephalopathy 0 0 0 0 0 0 0 0 24 24
Hemochromatosis type 3 0 0 0 0 0 0 0 0 24 24
Kartagener syndrome 2 0 0 0 0 0 0 0 22 24
Carnitine palmitoyltransferase II deficiency 1 0 1 0 0 0 0 0 21 23
Gaucher disease 0 0 0 0 0 0 0 0 23 23
Hyperekplexia 1 23 0 0 0 0 0 0 0 0 23
Poikiloderma with neutropenia 0 0 0 0 0 0 0 0 23 23
Dent disease type 1 4 0 0 0 0 0 0 0 18 22
Aicardi-Goutieres syndrome 5 3 0 0 0 0 0 0 0 18 21
Ataxia-telangiectasia syndrome 13 0 0 0 0 0 0 0 8 21
Congenital myasthenic syndrome 2 0 0 0 0 0 0 0 19 21
Propionic acidemia 1 0 0 0 0 0 0 0 20 21
3-methylglutaconic aciduria, type VIIB 0 0 0 0 0 0 0 0 20 20
Action myoclonus-renal failure syndrome 3 0 0 0 0 0 0 0 17 20
Arterial tortuosity syndrome 0 0 0 0 0 0 0 0 20 20
Disorders of Intracellular Cobalamin Metabolism 0 0 0 0 0 0 0 0 20 20
Hyperkalemic periodic paralysis 1 0 0 0 0 0 0 0 19 20
Kindler syndrome 5 0 0 0 0 0 0 0 15 20
Autosomal recessive ataxia due to ubiquinone deficiency 1 0 0 0 0 0 0 0 18 19
Glycogen storage disease, type VI 1 0 0 0 0 0 0 0 18 19
Hereditary von Willebrand disease 0 0 0 0 0 0 0 0 19 19
Nephronophthisis 1 0 0 0 0 0 0 0 18 19
Autosomal recessive nonsyndromic hearing loss 1A 4 0 0 0 0 0 0 0 14 18
Cutis laxa, autosomal recessive, type 1A 0 0 0 0 0 0 0 0 18 18
Dystonia 12 0 0 0 0 0 0 0 0 18 18
Hutchinson-Gilford syndrome 0 0 0 0 0 0 0 0 18 18
Microcephaly 3, primary, autosomal recessive 1 0 0 0 0 0 0 0 17 18
Mucopolysaccharidosis 0 0 0 0 0 0 0 0 18 18
Mucopolysaccharidosis type 1 1 0 0 0 0 0 0 0 17 18
Aicardi-Goutieres syndrome 1 3 0 0 0 0 0 0 0 14 17
Congenital generalized lipodystrophy type 1 1 0 0 0 0 0 0 0 16 17
GNPTG-mucolipidosis 3 0 0 0 0 0 0 0 14 17
Rahman syndrome 0 0 0 0 0 0 0 0 17 17
Amyotrophic lateral sclerosis type 10 0 0 0 0 0 0 0 0 16 16
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 4 0 0 0 0 0 0 0 12 16
Familial Mediterranean fever 0 0 0 0 0 0 0 0 16 16
Familial isolated deficiency of vitamin E 1 0 0 0 0 0 0 0 15 16
Kleefstra syndrome 1 0 0 0 0 0 0 0 0 16 16
Primary erythromelalgia 0 0 0 0 0 0 0 0 16 16
Congenital generalized lipodystrophy type 2 0 0 0 0 0 0 0 0 15 15
Glycogen storage disease, type IV 12 0 0 0 0 0 0 0 3 15
Hypermanganesemia with dystonia, polycythemia, and cirrhosis 1 0 0 0 0 0 0 0 14 15
Metachromatic leukodystrophy 0 0 0 0 0 0 0 0 15 15
Methylmalonic aciduria, cblA type 0 0 0 0 0 0 0 0 15 15
Spondylocostal dysostosis 2, autosomal recessive 4 0 0 0 3 0 0 0 8 15
alpha Thalassemia 7 0 0 0 0 0 0 0 8 15
Alpha-1-antitrypsin deficiency 9 0 0 0 1 0 0 0 4 14
Autosomal dominant Robinow syndrome 2 0 0 0 0 0 0 0 0 14 14
Batten-Turner congenital myopathy 0 0 0 0 0 0 0 0 14 14
Cardio-facio-cutaneous syndrome 0 0 0 0 0 0 0 0 14 14
Charcot-Marie-Tooth disease X-linked dominant 1 0 0 0 0 0 0 0 0 14 14
Charcot-Marie-Tooth disease type 4C 0 0 0 0 0 0 0 0 14 14
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 0 0 0 3 0 0 0 9 14
Familial hemiplegic migraine 0 0 0 0 0 0 0 0 14 14
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 0 0 0 0 0 0 14 14
Mitochondrial non-syndromic sensorineural hearing loss 1 0 2 0 0 0 0 0 11 14
Unverricht-Lundborg syndrome 1 0 0 0 0 0 0 0 13 14
Autosomal dominant nonsyndromic hearing loss 3A 0 0 0 0 0 0 0 0 13 13
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 0 0 0 0 0 0 0 13 13
Baller-Gerold syndrome 0 0 0 0 0 0 0 0 13 13
Chromosome 2q32-q33 deletion syndrome 0 0 0 0 0 0 0 0 13 13
Glycogen storage disease, type V 0 0 0 0 0 0 0 0 13 13
Hypomyelinating leukodystrophy 11 0 0 0 0 0 0 0 0 13 13
Interstitial lung disease 2 3 0 0 0 0 0 0 0 10 13
Microcephaly, normal intelligence and immunodeficiency 2 0 0 0 0 0 0 0 11 13
Mirror movements 1 1 0 0 0 0 0 0 0 12 13
Niemann-Pick disease, type C1 0 0 0 0 0 0 0 0 13 13
Parkinson disease 17 0 0 0 0 0 0 0 0 13 13
Primary hyperoxaluria, type I 0 0 0 0 0 0 0 0 13 13
Skeletal dysplasia; Neuromuscular disease 1 0 0 0 0 0 0 0 12 13
Smith-Lemli-Opitz syndrome 0 0 0 0 0 0 0 0 13 13
Thanatophoric dysplasia type 1 0 0 0 0 0 0 0 0 13 13
Alzheimer disease 3 0 0 0 0 0 0 0 0 12 12
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 1 0 0 0 10 12
CARASIL syndrome 1 0 0 0 0 0 0 0 11 12
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 5 0 0 0 0 0 0 0 7 12
Citrullinemia type I 2 0 0 0 0 0 0 0 10 12
Deafness with labyrinthine aplasia, microtia, and microdontia 0 0 0 0 0 0 0 0 12 12
Donnai-Barrow syndrome 0 0 0 0 0 0 0 0 12 12
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 0 0 12 12
Hereditary spastic paraplegia 3A 2 0 0 0 0 0 0 0 10 12
Larsen syndrome 0 0 0 0 0 0 0 0 12 12
Orthostatic hypotension 1 0 0 0 0 1 0 0 0 11 12
PMM2-congenital disorder of glycosylation 0 0 0 0 0 0 0 0 12 12
Aicardi-Goutieres syndrome 4 0 0 0 0 0 0 0 0 11 11
Alkaptonuria 0 0 0 0 0 0 0 0 11 11
Brown-Vialetto-van Laere syndrome 2 0 0 0 0 0 0 0 0 11 11
Cutaneous porphyria 1 0 0 0 0 0 0 0 10 11
Cutis laxa with osteodystrophy 1 0 0 0 1 0 0 0 9 11
Developmental and epileptic encephalopathy, 34 0 0 0 0 0 0 0 0 11 11
Familial adenomatous polyposis 2 2 0 0 0 0 0 0 0 9 11
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 1 0 0 0 0 0 0 0 10 11
Glutaric aciduria, type 1 0 0 0 0 0 0 0 0 11 11
Intellectual disability, X-linked 102 0 0 0 0 0 0 0 0 11 11
Methylmalonic aciduria, cblB type 0 0 0 0 0 0 0 0 11 11
Microcephaly 6, primary, autosomal recessive 0 0 0 0 0 0 0 0 11 11
Nephrotic syndrome, type 9 0 0 0 0 0 0 0 0 11 11
Noonan syndrome 1 0 0 0 0 0 0 0 0 11 11
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 0 0 0 0 0 0 0 11 11
Sclerosteosis 1 0 0 0 0 0 0 0 0 11 11
Sphingomyelin/cholesterol lipidosis 0 0 0 0 0 0 0 0 11 11
Spinocerebellar ataxia type 28 0 0 0 0 0 0 0 0 11 11
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 0 0 0 0 0 0 0 0 11 11
Tyrosinemia type I 0 0 0 0 0 0 0 0 11 11
Wagner syndrome 0 0 0 0 0 0 0 0 11 11
Acute myeloid leukemia 0 0 0 0 0 0 0 0 10 10
Autosomal dominant nonsyndromic hearing loss 2A 3 0 0 0 0 0 0 0 7 10
Char syndrome 0 0 0 0 0 0 0 0 10 10
Charcot-Marie-Tooth disease type 2D 0 0 0 0 0 0 0 0 10 10
DDX41-related hematologic malignancy predisposition syndrome 0 0 0 0 0 0 0 0 10 10
Developmental and epileptic encephalopathy, 4 0 0 0 0 0 0 0 0 10 10
Diastrophic dysplasia 0 0 0 0 0 0 0 0 10 10
Early-onset generalized limb-onset dystonia 0 0 0 0 0 0 0 0 10 10
GNE myopathy 0 0 0 0 0 0 0 0 10 10
Glycogen storage disease type III 0 0 0 0 0 0 0 0 10 10
Hereditary insensitivity to pain with anhidrosis 1 0 0 0 0 0 0 0 9 10
Hyperekplexia 3 9 0 0 0 0 0 0 0 1 10
Hypokalemic periodic paralysis, type 2 0 0 0 0 0 0 0 0 10 10
Mitochondrial disease 0 0 0 0 0 0 0 0 10 10
Mucolipidosis type IV 2 0 0 0 0 0 0 0 8 10
Mucopolysaccharidosis, MPS-IV-A 0 0 0 0 0 0 0 0 10 10
Niemann-Pick disease, type C2 0 0 0 0 0 0 0 0 10 10
Vanishing white matter disease 0 0 0 0 0 0 0 0 10 10
Andersen Tawil syndrome 0 0 0 0 0 0 0 0 9 9
Autosomal dominant optic atrophy classic form 0 0 0 0 0 0 0 0 9 9
Charcot-Marie-Tooth disease type 1C 0 0 0 0 0 0 0 0 9 9
Coenzyme Q10 deficiency 0 0 0 0 0 0 0 0 9 9
Familial juvenile hyperuricemic nephropathy type 1 0 0 0 0 0 0 0 0 9 9
Hereditary fructosuria 0 0 0 0 0 0 0 0 9 9
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0 0 0 0 0 0 0 0 9 9
Hypochondroplasia 0 0 0 0 0 0 0 0 9 9
Infantile-onset ascending hereditary spastic paralysis 9 0 0 0 0 0 0 0 0 9
Intellectual disability, autosomal dominant 42 0 0 0 0 0 0 0 0 9 9
Juvenile onset Parkinson disease 19A 0 0 0 0 0 0 0 0 9 9
LEOPARD syndrome 1 0 0 0 0 0 0 0 0 9 9
Lafora disease 0 0 0 0 0 0 0 0 9 9
McCune-Albright syndrome 0 0 0 0 0 0 0 0 9 9
Microcephaly 7, primary, autosomal recessive 0 0 0 0 0 0 0 0 9 9
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 1 0 0 0 0 0 0 0 8 9
Shwachman-Diamond syndrome 1 0 0 0 0 0 0 0 0 9 9
Visceral myopathy 1 0 0 0 0 0 0 0 0 9 9
Warburg micro syndrome 1 0 0 0 0 0 0 0 0 9 9
Allan-Herndon-Dudley syndrome 0 0 0 0 0 0 0 0 8 8
Brain small vessel disease 1 with or without ocular anomalies 0 0 0 0 0 0 0 0 8 8
Combined immunodeficiency due to ZAP70 deficiency 0 0 0 0 0 0 0 0 8 8
Congenital defect of folate absorption 0 0 0 0 0 0 0 0 8 8
Hereditary breast ovarian cancer syndrome 0 0 0 0 0 0 0 0 8 8
Holoprosencephaly 2 4 0 0 0 4 0 0 0 0 8
Hypermanganesemia with dystonia 2 0 0 0 0 0 0 0 0 8 8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 0 0 0 0 0 0 0 8 8
Hypokalemic periodic paralysis, type 1 0 0 0 0 0 0 0 0 8 8
Hypophosphatasia 0 0 0 0 0 0 0 0 8 8
Hypotonia, ataxia, and delayed development syndrome 0 0 0 0 0 0 0 0 8 8
IMAGe syndrome 0 0 0 0 0 0 0 0 8 8
Joubert syndrome 17 1 0 0 0 0 0 0 0 7 8
Lowe syndrome 8 0 0 0 0 0 0 0 0 8
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 0 0 0 0 0 0 8 8
Myopathy, myofibrillar, 9, with early respiratory failure 5 0 1 0 0 0 0 0 2 8
Pendred syndrome 0 0 0 0 0 0 0 0 8 8
Pseudohypoaldosteronism type 2B 0 0 0 0 0 0 0 0 8 8
Rett syndrome 0 0 0 0 0 0 0 0 8 8
Rhizomelic chondrodysplasia punctata type 1 0 0 0 0 0 0 0 0 8 8
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 0 0 0 0 0 0 0 8 8
Tibial muscular dystrophy 4 0 0 0 0 0 0 0 4 8
Treacher Collins syndrome 0 0 0 0 0 0 0 0 8 8
Autoimmune lymphoproliferative syndrome type 1 0 0 0 0 0 0 0 0 7 7
Bethlem myopathy 1A 0 0 0 0 0 0 0 0 7 7
Branchiootic syndrome 3 0 0 0 0 0 0 0 0 7 7
Charcot-Marie-Tooth disease 1 0 0 0 0 0 0 0 6 7
Cleidocranial dysostosis 0 0 0 0 0 0 0 0 7 7
Cystinosis 0 0 0 0 0 0 0 0 7 7
Encephalocraniocutaneous lipomatosis 0 0 0 0 0 0 0 0 7 7
Encephalopathy due to GLUT1 deficiency 0 0 0 0 0 0 0 0 7 7
Epilepsy, familial temporal lobe, 1 1 0 0 0 0 0 0 0 6 7
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 0 0 0 0 0 0 0 7 7
Familial temporal lobe epilepsy 7 0 0 0 0 0 0 0 0 7 7
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 0 0 0 0 0 0 0 0 7 7
Generalized dominant dystrophic epidermolysis bullosa 0 0 0 0 0 0 0 0 7 7
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 0 0 0 0 0 0 0 0 7 7
Hartsfield-Bixler-Demyer syndrome 0 0 0 0 0 0 0 0 7 7
Hogue-Janssens syndrome 1 0 0 0 0 0 0 0 0 7 7
Holoprosencephaly 5 7 0 0 0 0 0 0 0 0 7
Junctional epidermolysis bullosa gravis of Herlitz 3 0 0 0 0 0 0 0 4 7
Koolen-de Vries syndrome 1 0 0 0 0 0 0 0 6 7
Leber congenital amaurosis 4 0 0 0 0 0 0 0 0 7 7
Lipid proteinosis 0 0 0 0 0 0 0 0 7 7
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 0 0 0 0 0 0 0 7 7
Methylmalonic aciduria and homocystinuria type cblD 0 0 0 0 0 0 0 0 7 7
Microcephaly 1, primary, autosomal recessive 1 0 0 0 0 0 0 0 6 7
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 0 0 0 0 0 0 7 7
Mitochondrial DNA depletion syndrome, myopathic form 2 0 0 0 0 0 0 0 5 7
Neonatal intrahepatic cholestasis due to citrin deficiency 0 0 0 0 0 0 0 0 7 7
Nephropathic cystinosis 2 0 0 0 0 0 0 0 5 7
Neuroferritinopathy 0 0 0 0 0 0 0 0 7 7
Phenylketonuria 0 0 0 0 0 0 0 0 7 7
SHORT syndrome 0 0 0 0 0 0 0 0 7 7
Spongy degeneration of central nervous system 0 0 0 0 0 0 0 0 7 7
Tuberous sclerosis 2 0 0 0 0 0 0 0 0 7 7
UDPglucose-4-epimerase deficiency 2 0 0 0 0 0 0 0 5 7
Vasculitis due to ADA2 deficiency 0 0 0 0 0 0 0 0 7 7
Werner syndrome 0 0 0 0 0 0 0 0 7 7
Adenine phosphoribosyltransferase deficiency 0 0 0 0 0 0 0 0 6 6
Agenesis of the corpus callosum with peripheral neuropathy 0 0 0 0 0 0 0 0 6 6
Atelosteogenesis type I 0 0 0 0 0 0 0 0 6 6
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 0 0 0 0 0 0 0 6 6
Carney complex, type 1 1 0 0 0 0 0 0 0 5 6
Charcot-Marie-Tooth disease type 4H 0 0 0 0 0 0 0 0 6 6
Cold-induced sweating syndrome 1 1 0 0 0 0 0 0 0 5 6
Cranioectodermal dysplasia 1 0 0 0 0 0 0 0 0 6 6
DOORS syndrome 0 0 0 0 0 0 0 0 6 6
Diaphyseal dysplasia 0 0 0 0 0 0 0 0 6 6
Dilated cardiomyopathy 1A 0 0 0 0 0 0 0 0 6 6
Dyskeratosis congenita, autosomal recessive 1 0 0 0 0 0 0 0 0 6 6
Fanconi anemia complementation group C 0 0 0 0 0 0 0 0 6 6
Feingold syndrome type 1 0 0 0 0 0 0 0 0 6 6
Glycogen storage disease, type II 0 0 0 0 0 0 0 0 6 6
Gnb5-related intellectual disability-cardiac arrhythmia syndrome 0 0 0 0 0 0 0 0 6 6
Hemochromatosis type 1 0 0 0 0 0 0 0 0 6 6
Hemolytic uremic syndrome, atypical, susceptibility to, 1 1 0 0 0 0 0 0 0 5 6
Hepatic veno-occlusive disease-immunodeficiency syndrome 1 0 0 0 0 0 0 0 5 6
Hereditary pheochromocytoma-paraganglioma 0 0 0 0 0 0 0 0 6 6
Hereditary spherocytosis type 5 0 0 0 0 0 0 0 0 6 6
Huppke-Brendel syndrome 0 0 0 0 0 0 0 0 6 6
Infantile GM1 gangliosidosis 0 0 0 0 0 0 0 0 6 6
Lateral meningocele syndrome 0 0 0 0 0 0 0 0 6 6
MYH7-related skeletal myopathy 0 0 0 0 0 0 0 0 6 6
Majeed syndrome 0 0 0 0 0 0 0 0 6 6
Miyoshi muscular dystrophy 1 0 0 0 0 0 0 0 0 6 6
Mucopolysaccharidosis, MPS-III-A 6 0 0 0 0 0 0 0 0 6
Multiple sulfatase deficiency 0 0 0 0 0 0 0 0 6 6
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 0 0 0 0 0 0 0 6 6
Neuroblastoma, susceptibility to, 3 0 0 0 0 0 0 0 0 6 6
Neurofibromatosis, type 1 0 0 0 0 0 0 0 0 6 6
Neuromuscular disease 0 0 0 0 0 0 0 0 6 6
Neuropathy, hereditary sensory and autonomic, type 2A 2 0 0 0 0 0 0 0 4 6
Non-ketotic hyperglycinemia 2 0 0 0 0 0 0 0 4 6
Noonan syndrome with multiple lentigines 0 0 0 0 0 0 0 0 6 6
Parathyroid carcinoma 0 0 0 0 0 0 0 0 6 6
Progressive familial intrahepatic cholestasis type 1 0 0 0 0 0 0 0 0 6 6
Spinocerebellar ataxia type 10 4 0 0 0 1 0 0 0 1 6
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 0 0 0 0 0 0 6 6
Sulfite oxidase deficiency 1 0 0 0 0 0 0 0 5 6
Syndromic X-linked intellectual disability Snyder type 0 0 0 0 0 0 0 0 6 6
Timothy syndrome 0 0 0 0 0 0 0 0 6 6
Trimethylaminuria 1 1 0 0 0 0 0 0 4 6
X-linked chondrodysplasia punctata 1 0 0 0 0 0 0 0 0 6 6
Xeroderma pigmentosum variant type 1 0 0 0 0 0 0 0 5 6
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 0 0 0 0 0 0 5 5
Abetalipoproteinaemia 0 0 0 0 0 0 0 0 5 5
Alagille syndrome due to a JAG1 point mutation 0 0 0 0 0 0 0 0 5 5
Arts syndrome 0 0 0 0 0 0 0 0 5 5
Ataxia-hypogonadism-choroidal dystrophy syndrome 0 0 0 0 0 0 0 0 5 5
Autosomal recessive congenital ichthyosis 0 0 0 0 0 0 0 0 5 5
Bailey-Bloch congenital myopathy 0 0 0 0 0 0 0 0 5 5
Biotinidase deficiency 0 0 0 0 0 0 0 0 5 5
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 0 0 0 0 0 0 5 5
Cardiac valvular dysplasia, X-linked 1 0 0 0 0 0 0 0 4 5
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 0 0 0 0 1 0 0 0 4 5
Charcot-Marie-Tooth disease type 4F 0 0 0 0 0 0 0 0 5 5
Choroideremia 0 0 0 0 0 0 0 0 5 5
Chronic granulomatous disease 0 0 0 0 0 0 0 0 5 5
Citrullinemia, type II, adult-onset 0 0 0 0 0 0 0 0 5 5
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 0 0 0 0 0 0 5 5
Congenital stromal corneal dystrophy 0 0 0 0 0 0 0 0 5 5
Cyclical neutropenia 0 0 0 0 0 0 0 0 5 5
Deficiency of alpha-mannosidase 0 0 0 0 0 0 0 0 5 5
Deficiency of guanidinoacetate methyltransferase 0 0 0 0 0 0 0 0 5 5
Duane-radial ray syndrome 0 0 0 0 0 0 0 0 5 5
Dyskinesia with orofacial involvement, autosomal dominant 0 0 0 0 0 0 0 0 5 5
Epidermolysis bullosa simplex 1A, generalized severe 1 0 0 0 0 0 0 0 4 5
Familial hemophagocytic lymphohistiocytosis 3 0 0 0 0 0 0 0 0 5 5
Familial hemophagocytic lymphohistiocytosis 5 0 0 0 0 0 0 0 0 5 5
Geleophysic dysplasia 1 0 0 0 0 0 0 0 0 5 5
Hb SS disease 0 0 0 0 0 0 0 0 5 5
Hearing loss, X-linked 1 0 0 0 0 0 0 0 0 5 5
Hereditary spastic paraplegia 7 0 0 0 0 0 0 0 0 5 5
Hermansky-Pudlak syndrome 1 0 0 0 0 0 0 0 0 5 5
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 0 0 0 0 0 0 0 5 5
Hypercholesterolemia, autosomal dominant, 3 0 0 0 0 0 0 0 0 5 5
Landau-Kleffner syndrome 0 0 0 0 0 0 0 0 5 5
MERRF syndrome 0 0 0 0 0 0 0 0 5 5
Merosin deficient congenital muscular dystrophy 1 0 0 0 0 0 0 0 4 5
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 0 0 0 4 5
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 0 0 0 0 0 0 0 5 5
Pachyonychia congenita 3 0 0 0 0 0 0 0 0 5 5
Pigmentary pallidal degeneration 0 0 0 0 0 0 0 0 5 5
Pituitary hormone deficiency, combined, 2 0 0 0 0 0 0 0 0 5 5
Primary ciliary dyskinesia 19 0 0 0 0 0 0 0 0 5 5
Primary familial polycythemia due to EPO receptor mutation 0 0 0 0 0 0 0 0 5 5
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 0 0 0 4 5
Spondylocarpotarsal synostosis syndrome 0 0 0 0 0 0 0 0 5 5
Thrombophilia due to thrombin defect 0 0 0 0 0 0 0 0 5 5
Tubulointerstitial kidney disease, autosomal dominant, 2 0 0 0 0 0 0 0 0 5 5
Acrocephalosyndactyly type I 0 0 0 0 0 0 0 0 4 4
Alzheimer disease 0 0 0 0 0 0 0 0 4 4
Alzheimer disease 4 1 0 0 0 0 0 0 0 3 4
Arterial calcification, generalized, of infancy, 1 0 0 0 0 0 0 0 0 4 4
Ataxia-pancytopenia syndrome 0 0 0 0 0 0 0 0 4 4
Atelosteogenesis type III 0 0 0 0 0 0 0 0 4 4
Autoimmune lymphoproliferative syndrome type 2A 0 0 0 0 0 0 0 0 4 4
Autosomal dominant Robinow syndrome 1 0 0 0 0 0 0 0 0 4 4
Autosomal dominant mitochondrial myopathy with exercise intolerance 1 0 0 0 0 0 0 0 3 4
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 0 0 0 0 0 0 4 4
Autosomal recessive juvenile Parkinson disease 2 0 0 0 0 1 0 0 0 3 4
Autosomal recessive limb-girdle muscular dystrophy type 2L 0 0 0 0 0 0 0 0 4 4
Branchiootorenal syndrome 2 0 0 0 0 0 0 0 0 4 4
Brugada syndrome 1 0 0 0 0 0 0 0 0 4 4
CLOVES syndrome 1 0 0 0 0 0 0 0 3 4
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 0 0 0 0 0 0 4 4
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 0 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 1D 0 0 0 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 1E 0 0 0 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 1F 0 0 0 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease, type IA 1 0 0 0 0 0 0 0 3 4
Charlevoix-Saguenay spastic ataxia 0 0 0 0 0 0 0 0 4 4
Child syndrome 0 0 0 0 0 0 0 0 4 4
Congenital myopathy 4B, autosomal recessive 0 0 0 0 0 0 0 0 4 4
Dent disease type 2 2 0 0 0 0 0 0 0 2 4
Dentatorubral-pallidoluysian atrophy 3 0 0 0 1 0 0 0 0 4
Dyskeratosis congenita, autosomal recessive 3 0 0 0 0 0 0 0 0 4 4
Ectodermal dysplasia 0 0 0 0 0 0 0 0 4 4
Episodic ataxia type 1 1 0 0 0 0 0 0 0 3 4
Familial adenomatous polyposis 1 0 0 0 0 0 0 0 0 4 4
Familial hemophagocytic lymphohistiocytosis 2 0 0 0 0 0 0 0 0 4 4
Fanconi anemia complementation group A 0 0 0 0 0 0 0 0 4 4
Fanconi anemia complementation group G 0 0 0 0 0 0 0 0 4 4
Hereditary spastic paraplegia 17 0 0 0 0 0 0 0 0 4 4
Hereditary spastic paraplegia 8 0 0 0 0 0 0 0 0 4 4
Huntington disease 0 0 0 0 1 0 0 0 3 4
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 0 0 0 0 0 0 0 0 4 4
Hypomyelination and Congenital Cataract 0 0 0 0 0 0 0 0 4 4
Infantile onset spinocerebellar ataxia 0 0 0 0 0 0 0 0 4 4
Intellectual disability, autosomal dominant 1 0 0 0 0 0 0 0 0 4 4
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 0 0 0 0 0 0 4 4
Juvenile primary lateral sclerosis 4 0 0 0 0 0 0 0 0 4
Kennedy disease 1 0 1 0 1 0 1 0 0 4
Leber congenital amaurosis 3 0 0 0 0 0 0 0 0 4 4
Leber congenital amaurosis 5 1 0 0 0 0 0 0 0 3 4
Legius syndrome 0 0 0 0 2 0 0 0 2 4
Lissencephaly due to TUBA1A mutation 0 0 0 0 0 0 0 0 4 4
Lysinuric protein intolerance 0 0 0 0 0 0 0 0 4 4
MIRAGE syndrome 0 0 0 0 0 0 0 0 4 4
Maple syrup urine disease 0 0 0 0 0 0 0 0 4 4
McLeod neuroacanthocytosis syndrome 0 0 0 0 0 0 0 0 4 4
Megalencephalic leukoencephalopathy with subcortical cysts 2A 0 0 0 0 0 0 0 0 4 4
Mirror movements 2 0 0 0 0 0 0 0 0 4 4
Mucopolysaccharidosis, MPS-II 0 0 0 0 0 0 0 0 4 4
Myhre syndrome 0 0 0 0 0 0 0 0 4 4
Neuropathy, hereditary sensory and autonomic, type 1A 0 0 0 0 0 0 0 0 4 4
Peroxisome biogenesis disorder 0 0 0 0 0 0 0 0 4 4
Primary ciliary dyskinesia 14 4 0 0 0 0 0 0 0 0 4
Primary hyperoxaluria, type II 0 0 0 0 1 0 0 0 3 4
Prolidase deficiency 0 0 0 0 0 0 0 0 4 4
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 1 0 0 0 0 0 0 0 3 4
Van der Woude syndrome 1 0 0 0 0 0 0 0 0 4 4
Warburg micro syndrome 3 0 0 0 0 0 0 0 0 4 4
Weaver syndrome 0 0 0 0 0 0 0 0 4 4
X-linked sideroblastic anemia with ataxia 2 0 0 0 0 0 0 0 2 4
3-Methylglutaconic aciduria type 3 0 0 0 0 0 0 0 0 3 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 0 0 0 0 0 0 3 3
Amyotrophic neuralgia 0 0 0 0 0 0 0 0 3 3
Argininosuccinate lyase deficiency 0 0 0 0 0 0 0 0 3 3
Arrhythmogenic right ventricular dysplasia 12 0 0 0 0 0 0 0 0 3 3
Atypical glycine encephalopathy 0 0 0 0 0 0 0 0 3 3
Au-Kline syndrome 0 0 0 0 0 0 0 0 3 3
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 0 0 0 0 0 0 3 3
Autosomal dominant nocturnal frontal lobe epilepsy 0 0 0 0 0 0 0 0 3 3
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 0 0 0 0 0 0 3 3
Autosomal recessive DOPA responsive dystonia 0 0 0 0 0 0 0 0 3 3
Autosomal recessive osteopetrosis 4 0 0 0 0 0 0 0 0 3 3
Azorean disease 1 0 0 0 1 0 0 0 1 3
Bardet-Biedl syndrome 1 0 0 0 0 0 0 0 0 3 3
Birt-Hogg-Dube syndrome 0 0 0 0 0 0 0 0 3 3
CEBALID syndrome 0 0 0 0 0 0 0 0 3 3
CK syndrome 0 0 0 0 0 0 0 0 3 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 0 0 0 0 0 0 0 0 3 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 0 0 0 0 0 0 3 3
Ceroid lipofuscinosis, neuronal, 6A 0 0 0 0 0 0 0 0 3 3
Charcot-Marie-Tooth disease type 2E 0 0 0 0 0 0 0 0 3 3
Charcot-Marie-Tooth disease type 4E 0 0 0 0 0 0 0 0 3 3
Citrullinemia type II 0 0 0 0 0 0 0 0 3 3
Classic homocystinuria 0 0 0 0 0 0 0 0 3 3
Cohen syndrome 0 0 0 0 0 0 0 0 3 3
Congenital disorder of deglycosylation 0 0 0 0 0 0 0 0 3 3
Congenital plasminogen activator inhibitor type 1 deficiency 0 0 0 0 0 0 0 0 3 3
Cowden syndrome 1 0 0 0 0 0 0 0 0 3 3
Deafness dystonia syndrome 0 0 0 0 1 0 0 0 2 3
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 0 0 0 0 0 0 0 3 3
Deficiency of butyryl-CoA dehydrogenase 0 0 0 0 0 0 0 0 3 3
Dystonia 25 0 0 0 0 0 0 0 0 3 3
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 0 0 0 0 0 0 0 3 3
Ectopia lentis et pupillae 0 0 0 0 0 0 0 0 3 3
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 0 0 3 3
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 0 0 0 0 0 0 0 0 3 3
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 0 0 0 0 0 0 3 3
Epilepsy, progressive myoclonic, 1B 0 0 0 0 0 0 0 0 3 3
Episodic kinesigenic dyskinesia 1 0 0 0 0 0 0 0 0 3 3
Fabry disease 0 0 0 0 0 0 0 0 3 3
Familial acute necrotizing encephalopathy 0 0 0 0 0 0 0 0 3 3
Familial digital arthropathy-brachydactyly 0 0 0 0 0 0 0 0 3 3
Familial porphyria cutanea tarda 0 0 0 0 0 0 0 0 3 3
Farber lipogranulomatosis 0 0 0 0 0 0 0 0 3 3
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 0 0 0 0 0 0 0 0 3 3
Generalized juvenile polyposis/juvenile polyposis coli 0 0 0 0 0 0 0 0 3 3
Glucose-6-phosphate transport defect 0 0 0 0 0 0 0 0 3 3
Hereditary leiomyomatosis and renal cell cancer 0 0 0 0 0 0 0 0 3 3
Hereditary liability to pressure palsies 0 0 0 0 0 0 0 0 3 3
High myopia-sensorineural deafness syndrome 0 0 0 0 0 0 0 0 3 3
Holoprosencephaly 4 0 0 0 0 3 0 0 0 0 3
Hypercholesterolemia, autosomal dominant, type B 0 0 0 0 0 0 0 0 3 3
Infantile-onset X-linked spinal muscular atrophy 0 0 0 0 0 0 0 0 3 3
Inherited Creutzfeldt-Jakob disease 0 0 0 0 0 0 0 0 3 3
Jervell and Lange-Nielsen syndrome 1 0 0 0 0 0 0 0 0 3 3
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 0 0 0 0 0 0 0 2 3
Linear skin defects with multiple congenital anomalies 1 0 0 0 0 0 0 0 0 3 3
Linear skin defects with multiple congenital anomalies 2 0 0 0 0 0 0 0 0 3 3
Martsolf syndrome 0 0 0 0 0 0 0 0 3 3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 0 0 0 0 0 3 3
Melnick-Needles syndrome 0 0 0 0 0 0 0 0 3 3
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 0 0 0 0 0 0 0 0 3 3
Multiple mitochondrial dysfunctions syndrome 4 0 0 0 0 0 0 0 0 3 3
Myofibrillar myopathy 2 0 0 0 0 0 0 0 0 3 3
Myostatin-related muscle hypertrophy 1 0 0 0 0 0 0 0 2 3
Neurodegeneration with brain iron accumulation 4 0 0 0 0 0 0 0 0 3 3
Neutropenia, severe congenital, 8, autosomal dominant 0 0 0 0 0 0 0 0 3 3
Oculocutaneous albinism type 4 0 0 0 0 0 0 0 0 3 3
Paroxysmal nonkinesigenic dyskinesia 1 0 0 0 0 0 0 0 0 3 3
Pelizaeus-Merzbacher disease 0 0 0 0 0 0 0 0 3 3
Peters plus syndrome 0 0 0 0 0 0 0 0 3 3
Pontocerebellar hypoplasia type 1B 1 0 0 0 0 0 0 0 2 3
Pontocerebellar hypoplasia type 4 0 0 0 0 0 0 0 0 3 3
Primary ciliary dyskinesia 11 0 0 0 0 0 0 0 0 3 3
Primary ciliary dyskinesia 13 3 0 0 0 0 0 0 0 0 3
Pyridoxine-dependent epilepsy 0 0 0 0 0 0 0 0 3 3
Renal coloboma syndrome 0 0 0 0 0 0 0 0 3 3
Retinitis pigmentosa 0 0 0 0 0 0 0 0 3 3
Ritscher-Schinzel syndrome 1 0 0 0 0 0 0 0 0 3 3
Sialuria 0 0 0 0 0 0 0 0 3 3
Spinal muscular atrophy, infantile, James type 0 0 0 0 0 0 0 0 3 3
Spinocerebellar ataxia type 11 0 0 0 0 0 0 0 0 3 3
Spinocerebellar ataxia type 38 0 0 0 0 0 0 0 0 3 3
Steinert myotonic dystrophy syndrome 1 0 0 0 2 0 0 0 0 3
Thrombophilia due to activated protein C resistance 0 0 0 0 0 0 0 0 3 3
Tumor predisposition syndrome 3 0 0 0 0 0 0 0 0 3 3
Tumoral calcinosis, hyperphosphatemic, familial, 1 0 0 0 0 0 0 0 0 3 3
Usher syndrome type 1C 0 0 0 0 0 0 0 0 3 3
Usher syndrome type 1G 1 0 0 0 0 0 0 0 2 3
Wilms tumor 1 0 0 0 0 0 0 0 0 3 3
Wilson disease 0 0 0 0 0 0 0 0 3 3
X-linked Alport syndrome 1 0 0 0 0 0 0 0 2 3
X-linked Opitz G/BBB syndrome 0 0 0 0 0 0 0 0 3 3
X-linked erythropoietic protoporphyria 0 0 0 0 0 0 0 0 3 3
Xeroderma pigmentosum group A 0 0 0 0 0 0 0 0 3 3
not provided 0 0 0 0 0 0 0 0 3 3
ALS2-Related Disorders 2 0 0 0 0 0 0 0 0 2
Achromatopsia 3 0 0 0 0 0 0 0 0 2 2
Achromatopsia 7 0 0 0 0 0 0 0 0 2 2
Acral peeling skin syndrome 0 0 0 0 0 0 0 0 2 2
Aicardi-Goutieres syndrome 6 0 0 0 0 0 0 0 0 2 2
Amish lethal microcephaly 0 0 0 0 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 2, juvenile 2 0 0 0 0 0 0 0 0 2
Androgen resistance syndrome 0 0 0 0 2 0 0 0 0 2
Arginine:glycine amidinotransferase deficiency 0 0 0 0 0 0 0 0 2 2
Arrhythmogenic right ventricular dysplasia 13 0 0 0 0 0 0 0 0 2 2
Autosomal dominant nonsyndromic hearing loss 3B 0 0 0 0 0 0 0 0 2 2
Autosomal dominant osteopetrosis 2 0 0 0 0 0 0 0 0 2 2
Autosomal dominant popliteal pterygium syndrome 0 0 0 0 0 0 0 0 2 2
Autosomal recessive early-onset Parkinson disease 6 0 0 0 0 0 0 0 0 2 2
Baraitser-Winter syndrome 0 0 0 0 0 0 0 0 2 2
Basal ganglia calcification, idiopathic, 4 0 0 0 0 0 0 0 0 2 2
Benign Rolandic epilepsy 0 0 0 0 0 0 0 0 2 2
Birk-Barel syndrome 2 0 0 0 0 0 0 0 0 2
Bloom syndrome 0 0 0 0 0 0 0 0 2 2
Bone marrow failure syndrome 3 0 0 0 0 0 0 0 0 2 2
Brugada syndrome 2 0 0 0 0 0 0 0 0 2 2
Brugada syndrome 3 0 0 0 0 0 0 0 0 2 2
Camptomelic dysplasia 0 0 0 0 0 0 0 0 2 2
Cardiofaciocutaneous syndrome 3 0 0 0 0 0 0 0 0 2 2
Catecholaminergic polymorphic ventricular tachycardia 4 0 0 0 0 0 0 0 0 2 2
Cerebral cavernous malformation 0 0 0 0 0 0 0 0 2 2
Cerebral cavernous malformation 2 1 0 0 0 0 0 0 0 1 2
Charcot-Marie-Tooth disease X-linked recessive 5 0 0 0 0 0 0 0 0 2 2
Chylomicron retention disease 0 0 0 0 0 0 0 0 2 2
Cockayne syndrome 0 0 0 0 0 0 0 0 2 2
Coenzyme Q10 deficiency, primary, 3 0 0 0 0 0 0 0 0 2 2
Coffin-Siris syndrome 1 0 0 0 0 0 0 0 0 2 2
Cone-rod dystrophy 13 0 0 0 0 0 0 0 0 2 2
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 0 0 0 0 0 0 0 0 2 2
Congenital contractural arachnodactyly 0 0 0 0 0 0 0 0 2 2
Congenital dyserythropoietic anemia type type 1B 0 0 0 0 0 0 0 0 2 2
Congenital dyserythropoietic anemia, type I 1 0 0 0 0 0 0 0 1 2
Cornelia de Lange syndrome 4 0 0 0 0 0 0 0 0 2 2
Cranioectodermal dysplasia 4 0 0 0 0 0 0 0 0 2 2
Creatine transporter deficiency 0 0 0 0 0 0 0 0 2 2
DeSanto-Shinawi syndrome due to WAC point mutation 0 0 0 0 0 0 0 0 2 2
Dejerine-Sottas disease 1 0 0 0 0 0 0 0 1 2
Diabetes mellitus, transient neonatal, 3 0 0 0 0 0 0 0 0 2 2
Dyskeratosis congenita, autosomal dominant 6 0 0 0 0 0 0 0 0 2 2
Dystonia 28, childhood-onset 0 0 0 0 0 0 0 0 2 2
Early-onset myopathy with fatal cardiomyopathy 1 0 0 0 0 0 0 0 1 2
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 0 0 0 0 0 0 2 2
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 1 0 0 0 0 0 0 0 1 2
FLNB-Related Disorders 0 0 0 0 0 0 0 0 2 2
Familial aplasia of the vermis 2 0 0 0 0 0 0 0 0 2
Familial dysautonomia 0 0 0 0 0 0 0 0 2 2
Floating-Harbor syndrome 0 0 0 0 0 0 0 0 2 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 1 0 0 0 1 0 0 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 0 0 0 0 0 0 0 2 2
Fumarase deficiency 0 0 0 0 0 0 0 0 2 2
Glaucoma 3A 0 0 0 0 0 0 0 0 2 2
Glycogen storage disease IXb 0 0 0 0 0 0 0 0 2 2
Gnathodiaphyseal dysplasia 0 0 0 0 0 0 0 0 2 2
Hemochromatosis type 4 2 0 0 0 0 0 0 0 0 2
Hereditary factor IX deficiency disease 0 0 0 0 0 0 0 0 2 2
Hereditary factor VIII deficiency disease 0 0 0 0 1 0 0 0 1 2
Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 0 0 0 0 0 0 0 2 2
Hereditary sensory and autonomic neuropathy type 7 0 0 0 0 0 0 0 0 2 2
Hereditary spastic paraplegia 4 0 0 0 0 0 0 0 0 2 2
Hermansky-Pudlak syndrome 3 1 0 0 0 0 0 0 0 1 2
Hermansky-Pudlak syndrome 6 1 0 0 0 0 0 0 0 1 2
Hoyeraal-Hreidarsson syndrome 0 0 0 0 0 0 0 0 2 2
Hyper-IgM syndrome type 1 0 0 0 0 0 0 0 0 2 2
Hyperekplexia 2 2 0 0 0 0 0 0 0 0 2
Hypomyelinating leukodystrophy 2 0 0 0 0 0 0 0 0 2 2
Hypophosphatemic rickets, X-linked recessive 1 0 0 0 0 0 0 0 1 2
Idiopathic basal ganglia calcification 1 0 0 0 0 0 0 0 0 2 2
Inherited prion disease 1 0 0 0 1 0 0 0 0 2
Leprechaunism syndrome 0 0 0 0 0 0 0 0 2 2
Linear skin defects with multiple congenital anomalies 3 0 0 0 0 0 0 0 0 2 2
Lissencephaly due to LIS1 mutation 0 0 0 0 0 0 0 0 2 2
Luscan-Lumish syndrome 0 0 0 0 0 0 0 0 2 2
Lysosomal acid lipase deficiency 0 0 0 0 0 0 0 0 2 2
Menkes kinky-hair syndrome 0 0 0 0 0 0 0 0 2 2
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 0 0 0 0 0 0 0 0 2 2
Microcephalic osteodysplastic primordial dwarfism type II 0 0 0 0 0 0 0 0 2 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 0 0 0 0 0 0 0 2 2
Multiple cutaneous and mucosal venous malformations 0 0 0 0 0 0 0 0 2 2
Multiple mitochondrial dysfunctions syndrome 5 0 0 0 0 0 0 0 0 2 2
Neuronal ceroid lipofuscinosis 1 0 0 0 0 0 0 0 0 2 2
Neuronal ceroid lipofuscinosis 2 1 0 0 0 0 0 0 0 1 2
Neuronal ceroid lipofuscinosis 3 1 0 0 0 0 0 0 0 1 2
Neuronal ceroid lipofuscinosis 5 0 0 0 0 0 0 0 0 2 2
Neuronal ceroid lipofuscinosis 7 2 0 0 0 0 0 0 0 0 2
Ocular cystinosis 0 0 0 0 0 0 0 0 2 2
Optic atrophy 3 0 0 0 0 0 0 0 0 2 2
Orofaciodigital syndrome I 2 0 0 0 0 0 0 0 0 2
Pancreatic agenesis 1 0 0 0 0 0 0 0 0 2 2
Paragangliomas 2 0 0 0 0 0 0 0 0 2 2
Phytanic acid storage disease 0 0 0 0 0 0 0 0 2 2
Pituitary adenoma, growth hormone-secreting, 2 0 0 0 0 0 0 0 0 2 2
Primary ciliary dyskinesia 15 2 0 0 0 0 0 0 0 0 2
Primary ciliary dyskinesia 3 0 0 0 0 0 0 0 0 2 2
Primary ciliary dyskinesia 6 0 0 0 0 0 0 0 0 2 2
Primary hyperoxaluria type 3 0 0 0 0 0 0 0 0 2 2
Pseudohypoaldosteronism type 2C 0 0 0 0 0 0 0 0 2 2
Schaaf-Yang syndrome 0 0 0 0 0 0 0 0 2 2
Severe X-linked myotubular myopathy 0 0 0 0 0 0 0 0 2 2
Shwachman-Diamond syndrome 2 0 0 0 0 0 0 0 0 2 2
Sialic acid storage disease, severe infantile type 0 0 0 0 0 0 0 0 2 2
Spermatogenic failure 7 0 0 0 0 0 0 0 0 2 2
Spinocerebellar ataxia type 2 0 0 0 0 0 0 0 0 2 2
Spinocerebellar ataxia type 36 1 0 0 0 1 0 0 0 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 0 0 0 0 0 0 2 2
Stickler syndrome type 1 0 0 0 0 0 0 0 0 2 2
Tourette syndrome 0 0 0 0 0 0 0 0 2 2
Townes-Brocks syndrome 1 0 0 0 0 0 0 0 0 2 2
Urofacial syndrome type 1 0 0 0 0 0 0 0 0 2 2
Very long chain acyl-CoA dehydrogenase deficiency 0 0 0 0 0 0 0 0 2 2
X-linked severe combined immunodeficiency 0 0 0 0 0 0 0 0 2 2
Xeroderma pigmentosum, group D 0 0 0 0 0 0 0 0 2 2
15q11q13 microduplication syndrome 1 0 0 0 0 0 0 0 0 1
Achromatopsia 4 0 0 0 0 0 0 0 0 1 1
Adrenoleukodystrophy 0 0 0 0 0 0 0 0 1 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 0 0 0 0 0 0 1 1
Anemia, congenital dyserythropoietic, type 1a 0 0 0 0 0 0 0 0 1 1
Aniridia 1 0 0 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia 5 0 0 0 0 0 0 0 0 1 1
Atypical hemolytic-uremic syndrome with I factor anomaly 0 0 0 0 0 0 0 0 1 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 0 0 0 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 0 0 0 0 0 0 1 1
Baraitser-Winter syndrome 1 0 0 0 0 0 0 0 0 1 1
Benign neonatal seizures 0 0 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 0 0 0 0 0 0 1 1
Brugada syndrome 4 0 0 0 0 0 0 0 0 1 1
Brugada syndrome 7 0 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 4A 0 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 4B1 0 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 4D 0 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 4G 0 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 4J 0 0 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 0 0 0 0 0 0 0 0 1 1
Chromosome 15q13.3 microdeletion syndrome 1 0 0 0 0 0 0 0 0 1
Chromosome 17q12 deletion syndrome 1 0 0 0 0 0 0 0 0 1
Chromosome 17q12 duplication syndrome 1 0 0 0 0 0 0 0 0 1
Chromosome 3q29 microdeletion syndrome 1 0 0 0 0 0 0 0 0 1
Coffin-Siris syndrome 8 0 0 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation defect type 14 0 0 0 0 0 0 0 0 1 1
Complex cortical dysplasia with other brain malformations 7 0 0 0 0 0 0 0 0 1 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 0 0 0 0 0 0 1 1
Congenital myopathy 23 0 0 0 0 0 0 0 0 1 1
Congenital stationary night blindness 2A 1 0 0 0 0 0 0 0 0 1
Cranioectodermal dysplasia 2 0 0 0 0 0 0 0 0 1 1
Cranioectodermal dysplasia 3 0 0 0 0 0 0 0 0 1 1
Craniosynostosis 2 0 0 0 0 0 0 0 0 1 1
DYRK1A-related intellectual disability syndrome 0 0 0 0 0 0 0 0 1 1
Deafness-infertility syndrome 1 0 0 0 0 0 0 0 0 1
Desmin-related myofibrillar myopathy 0 0 0 0 0 0 0 0 1 1
Developmental and epileptic encephalopathy, 1 0 0 0 0 0 0 0 0 1 1
Developmental malformations-deafness-dystonia syndrome 0 0 0 0 0 0 0 0 1 1
Diamond-Blackfan anemia 8 1 0 0 0 0 0 0 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 0 0 0 0 0 0 0 0 1
Dyskeratosis congenita, autosomal recessive 5 0 0 0 0 0 0 0 0 1 1
Epidermolysis bullosa simplex with migratory circinate erythema 0 0 0 0 0 0 0 0 1 1
Epidermolysis bullosa simplex with mottled pigmentation 0 0 0 0 0 0 0 0 1 1
Epidermolysis bullosa simplex, Ogna type 0 0 0 0 0 0 0 0 1 1
Epilepsy, familial focal, with variable foci 4 0 0 0 0 0 0 0 0 1 1
Fatal familial insomnia 0 0 0 0 0 0 0 0 1 1
Genitopatellar syndrome 0 0 0 0 0 0 0 0 1 1
Gerstmann-Straussler-Scheinker syndrome 0 0 0 0 0 0 0 0 1 1
Glycogen storage disease IXd 0 0 0 0 0 0 0 0 1 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 1 0 0 0 0 0 0 0 0 1
Hereditary spastic paraplegia 39 0 0 0 0 0 0 0 0 1 1
Hereditary spastic paraplegia 77 0 0 0 0 0 0 0 0 1 1
Hermansky-Pudlak syndrome 4 0 0 0 0 0 0 0 0 1 1
Hypercholesterolemia, familial, 1 1 0 0 0 0 0 0 0 0 1
Incontinentia pigmenti syndrome 0 0 0 0 0 0 0 0 1 1
Infantile convulsions and choreoathetosis 0 0 0 0 0 0 0 0 1 1
Infantile cortical hyperostosis 0 0 0 0 0 0 0 0 1 1
Intellectual disability, autosomal dominant 15 0 0 0 0 0 0 0 0 1 1
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 0 0 0 0 0 0 0 0 1 1
Joubert syndrome 2 0 0 0 0 0 0 0 0 1 1
Joubert syndrome 21 0 0 0 0 0 0 0 0 1 1
Joubert syndrome 23 0 0 0 0 0 0 0 0 1 1
Joubert syndrome 28 0 0 0 0 0 0 0 0 1 1
Joubert syndrome 7 0 0 0 0 0 0 0 0 1 1
Junctional epidermolysis bullosa with pyloric atresia 0 0 0 0 0 0 0 0 1 1
KBG syndrome 0 0 0 0 0 0 0 0 1 1
Kearns-Sayre syndrome 0 0 0 0 0 0 0 0 1 1
Kugelberg-Welander disease 0 0 0 0 0 0 0 0 1 1
Leber congenital amaurosis 1 1 0 0 0 0 0 0 0 0 1
Leber congenital amaurosis 10 1 0 0 0 0 0 0 0 1 1
Leber congenital amaurosis 12 0 0 0 0 0 0 0 0 1 1
Leber congenital amaurosis 13 0 0 0 0 0 0 0 0 1 1
Leber congenital amaurosis 7 0 0 0 0 0 0 0 0 1 1
Leber congenital amaurosis 8 0 0 0 0 0 0 0 0 1 1
Leber congenital amaurosis 9 0 0 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 0 0 0 0 0 1 1
Maternal riboflavin deficiency 1 0 0 0 0 0 0 0 0 1
Maturity-onset diabetes of the young type 2 0 0 0 0 0 0 0 0 1 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 0 0 0 0 0 0 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 0 0 0 0 0 0 1 1
Metaphyseal chondrodysplasia, McKusick type 1 0 0 0 0 0 0 0 0 1
Microphthalmia, syndromic 1 0 0 0 0 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 0 0 0 0 0 0 0 1 1
Miyoshi muscular dystrophy 3 0 0 0 0 0 0 0 0 1 1
Multiple endocrine neoplasia, type 1 0 0 0 0 0 0 0 0 1 1
Myofibrillar myopathy 3 0 0 0 0 0 0 0 0 1 1
Myofibrillar myopathy 4 0 0 0 0 0 0 0 0 1 1
Myofibrillar myopathy 6 0 0 0 0 0 0 0 0 1 1
Nemaline myopathy 2 1 0 0 0 0 0 0 0 0 1
Nemaline myopathy 5 0 0 0 0 0 0 0 0 1 1
Nemaline myopathy 7 1 0 0 0 0 0 0 0 0 1
Nephrotic syndrome 14 0 0 0 0 0 0 0 0 1 1
Neurodegeneration with brain iron accumulation 0 0 0 0 0 0 0 0 1 1
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 0 0 0 0 0 0 0 0 1 1
Oculocutaneous albinism type 1B 0 0 0 0 0 0 0 0 1 1
Oculofaciocardiodental syndrome 0 0 0 0 0 0 0 0 1 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 0 0 0 0 0 0 0 1 1
Pachyonychia congenita 2 0 0 0 0 0 0 0 0 1 1
Pallister-Hall syndrome 1 0 0 0 0 0 0 0 0 1
Parietal foramina 2 1 0 0 0 0 0 0 0 0 1
Paroxysmal nocturnal hemoglobinuria 1 1 0 0 0 0 0 0 0 0 1
Perry syndrome 0 0 0 0 0 0 0 0 1 1
Phelan-McDermid syndrome 0 0 0 0 0 0 0 0 1 1
Pituitary dependent hypercortisolism 0 0 0 0 0 0 0 0 1 1
Polycystic kidney disease, adult type 0 0 0 0 0 0 0 0 1 1
Pontocerebellar hypoplasia type 2A 0 0 0 0 0 0 0 0 1 1
Pontocerebellar hypoplasia type 2B 0 0 0 0 0 0 0 0 1 1
Pontocerebellar hypoplasia type 2C 0 0 0 0 0 0 0 0 1 1
Potocki-Lupski syndrome 1 0 0 0 0 0 0 0 0 1
Primary ciliary dyskinesia 16 1 0 0 0 0 0 0 0 0 1
Primary ciliary dyskinesia 18 0 0 0 0 0 0 0 0 1 1
Primary ciliary dyskinesia 7 0 0 0 0 0 0 0 0 1 1
Primary ciliary dyskinesia 9 0 0 0 0 0 0 0 0 1 1
Progressive osseous heteroplasia 0 0 0 0 0 0 0 0 1 1
Proteus syndrome 0 0 0 0 0 0 0 0 1 1
Protoporphyria, erythropoietic, 1 0 0 0 0 0 0 0 0 1 1
Proximal 16p11.2 microdeletion syndrome 1 0 0 0 0 0 0 0 0 1
Pseudohypoparathyroidism 0 0 0 0 0 0 0 0 1 1
Pseudopseudohypoparathyroidism 0 0 0 0 0 0 0 0 1 1
Pyruvate dehydrogenase E3 deficiency 1 0 0 0 0 0 0 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 0 0 0 0 0 0 0 1 1
Retinal cone dystrophy 3A 0 0 0 0 0 0 0 0 1 1
Schwannomatosis 1 0 0 0 0 0 0 0 0 1 1
Sea-blue histiocyte syndrome 0 0 0 0 0 0 0 0 1 1
Seizures, benign familial infantile, 2 0 0 0 0 0 0 0 0 1 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 0 0 0 0 0 0 0 1 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 0 0 0 0 0 0 0 1 1
Spinocerebellar ataxia type 15/16 0 0 0 0 0 0 0 0 1 1
Spondyloepimetaphyseal dysplasia, matrilin-3 type 0 0 0 0 0 0 0 0 1 1
Squalene synthase deficiency 0 0 0 0 0 0 0 0 1 1
Stickler syndrome, type 4 0 0 0 0 0 0 0 0 1 1
Stickler syndrome, type 5 0 0 0 0 0 0 0 0 1 1
Terminal osseous dysplasia-pigmentary defects syndrome 0 0 0 0 0 0 0 0 1 1
Thanatophoric dysplasia, type 2 0 0 0 0 0 0 0 0 1 1
Transcription level of plasminogen activator inhibitor 1 0 0 0 0 0 0 0 1 0 1
Tyrosinase-negative oculocutaneous albinism 0 0 0 0 0 0 0 0 1 1
Usher syndrome type 1J 0 0 0 0 0 0 0 0 1 1
Variegate porphyria 0 0 0 0 0 0 0 0 1 1
Warburg micro syndrome 2 0 0 0 0 0 0 0 0 1 1
Warsaw breakage syndrome 0 0 0 0 0 0 0 0 1 1
Woodhouse-Sakati syndrome 0 0 0 0 0 0 0 0 1 1
X-linked dystonia-parkinsonism 1 0 0 0 0 0 0 0 0 1
Xeroderma pigmentosum, group C 0 0 0 0 0 0 0 0 1 1

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