ClinVar Miner

Variants from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Location: Australia  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
4748 1747 4175 262 18 10950

Gene and significance breakdown #

Total genes and gene combinations: 2573
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 213 37 140 8 0 398
TTN 18 59 37 2 0 116
MYBPC3 56 12 33 1 0 102
COL4A4 41 39 20 0 0 100
COL4A3, MFF-DT 32 41 16 0 0 89
COL4A5 58 18 7 0 0 83
PKHD1 47 14 20 0 0 81
PKD2 51 4 21 0 0 76
SCN5A 20 11 31 1 0 63
FLNC 10 0 51 0 0 61
KCNQ1 42 9 8 1 0 60
MYH7 16 15 28 1 0 60
FBN1 35 10 13 1 0 59
RYR1 22 5 25 0 0 52
DSP 21 3 22 3 0 49
KCNH2 23 7 19 0 0 49
KMT2D 28 4 12 5 0 49
GJB2 32 3 11 0 1 47
NF1 40 3 4 0 0 47
ANKRD11 19 3 16 5 0 43
PTPN11 32 3 4 0 0 39
KMT2A 20 3 14 1 0 38
USH2A 29 4 5 0 0 38
ABCA4 22 6 8 1 0 37
RYR2 12 8 15 2 0 37
CHD7 17 5 13 0 0 35
COL2A1 23 7 4 0 0 34
SLC12A3 31 1 2 0 0 34
PTEN 24 6 3 0 0 33
LDLR 27 2 2 1 0 32
ARID1B 26 2 3 0 0 31
LMNA 16 4 10 0 0 30
DMD 15 4 10 0 0 29
LZTR1 5 10 14 0 0 29
NSD1 18 5 5 1 0 29
ALPK3 9 2 17 0 0 28
NIPBL 14 3 10 1 0 28
CACNA1C 4 4 18 1 0 27
KCNQ2 23 1 3 0 0 27
MECP2 20 2 3 1 1 27
TNNT2 6 4 15 2 0 27
COL1A1 21 2 2 1 0 26
CREBBP 12 4 6 4 0 26
COL4A1 8 8 9 0 0 25
HUWE1 1 6 18 0 0 25
KIF1A 10 3 7 4 1 25
MYO7A 12 2 11 0 0 25
PAH 23 1 1 0 0 25
PKP2 16 2 6 1 0 25
CACNA1A 8 4 12 0 0 24
CFTR 22 2 0 0 0 24
MED13L 12 1 6 4 0 23
TNNI3 13 3 7 0 0 23
MYO15A 9 12 1 0 0 22
POLG 12 4 6 0 0 22
SCN2A 12 4 6 0 0 22
SLC26A4 20 1 1 0 0 22
WFS1 11 3 7 1 0 22
COL7A1 15 4 2 0 0 21
HNF1B 14 3 4 0 0 21
SETD5 15 4 2 0 0 21
DSG2 4 1 13 2 0 20
SPAST 15 2 3 0 0 20
SPG11 9 3 8 0 0 20
USP9X 3 4 12 1 0 20
ABCB4 5 4 10 0 0 19
CHD4 2 5 12 0 0 19
FBN2 0 2 16 1 0 19
NPC1 8 3 8 0 0 19
OPA1 10 3 6 0 0 19
SYNGAP1 13 3 3 0 0 19
AR 11 6 1 0 0 18
ASH1L 4 1 12 1 0 18
DDX3X 13 3 2 0 0 18
KAT6A 14 2 1 1 0 18
NPHS1 10 3 5 0 0 18
SCN1A 9 1 8 0 0 18
TRIO 2 4 11 1 0 18
TSC2 11 0 6 1 0 18
ASPM 8 0 9 0 0 17
CCDST, FLG 11 0 6 0 0 17
CHD8 10 2 5 0 0 17
CPLANE1 11 1 5 0 0 17
FHOD3 0 1 16 0 0 17
FLNA 5 2 9 1 0 17
G6PD 13 1 3 0 0 17
NBEA 3 2 12 0 0 17
NOTCH3 8 2 7 0 0 17
PIEZO2 3 1 11 2 0 17
SCN8A 6 4 7 0 0 17
STXBP1 14 1 1 1 0 17
ATP7B 10 1 5 0 0 16
COL1A2 9 4 3 0 0 16
FOXP1 11 0 4 1 0 16
KMT2C 4 0 11 1 0 16
TRRAP 0 1 15 0 0 16
UMOD 3 7 6 0 0 16
CHD3 4 8 3 0 0 15
COL6A3 1 2 10 2 0 15
IFT140, LOC105371046 10 2 3 0 0 15
KDM5C 4 5 6 0 0 15
RAF1 6 1 5 3 0 15
RBM20 2 3 9 1 0 15
TBCEL-TECTA, TECTA 3 1 10 1 0 15
TUBA1A 9 4 2 0 0 15
VWF 8 3 4 0 0 15
ADNP 6 3 5 0 0 14
ALPL 10 2 2 0 0 14
ATRX 5 1 6 1 1 14
CASR 4 5 5 0 0 14
ECHS1 5 5 4 0 0 14
GANAB 1 1 12 0 0 14
INF2 3 2 7 2 0 14
KDM5B 6 3 5 0 0 14
LOC102724058, SCN1A 8 2 4 0 0 14
MYH6 0 0 12 2 0 14
MYT1L 5 2 6 1 0 14
OCA2 7 6 1 0 0 14
SMARCA2 6 4 4 0 0 14
SOS1 7 1 4 2 0 14
SYNE1 2 2 9 1 0 14
TPM1 4 1 9 0 0 14
ACTB 4 5 4 0 0 13
ATM 10 1 2 0 0 13
BRPF1 4 0 9 0 0 13
CDH23 6 2 5 0 0 13
COL3A1 5 3 5 0 0 13
DEPDC5 7 1 5 0 0 13
EP300 4 2 7 0 0 13
IQSEC2 5 1 6 1 0 13
JAG1 7 1 3 2 0 13
KDM6A 4 0 9 0 0 13
LOC126861898, MYH7 3 6 4 0 0 13
MYH9 6 1 6 0 0 13
PDHA1 6 3 4 0 0 13
RERE 4 1 6 2 0 13
SETD1B 3 1 8 1 0 13
SETD2 3 2 6 2 0 13
SON 6 1 5 1 0 13
TCF4 5 3 4 1 0 13
TMEM43 0 0 13 0 0 13
TYR 12 0 1 0 0 13
WDFY3 4 2 7 0 0 13
ACVRL1 8 4 0 0 0 12
ATM, C11orf65 11 1 0 0 0 12
CEP290 9 0 3 0 0 12
CHD2 2 4 6 0 0 12
COL11A1 1 9 2 0 0 12
CUBN 6 1 5 0 0 12
DHCR7 10 0 2 0 0 12
DNAH11 6 1 5 0 0 12
DNAH5 7 1 4 0 0 12
DYNC1H1 1 2 7 2 0 12
EHMT1 6 1 5 0 0 12
F8 5 0 6 1 0 12
FGFR3 9 0 3 0 0 12
GFAP 7 1 3 1 0 12
IFT140 8 3 1 0 0 12
KAT6B 10 0 2 0 0 12
L1CAM 7 3 2 0 0 12
MTOR 1 0 9 2 0 12
NR2F1 7 3 2 0 0 12
RTEL1, RTEL1-TNFRSF6B 5 1 5 1 0 12
SMAD3 2 8 2 0 0 12
TGFBR1 3 3 6 0 0 12
ACTN2 0 4 7 0 0 11
ADGRV1 5 2 4 0 0 11
APC2 0 3 8 0 0 11
ATP7A 4 1 4 2 0 11
BAG3 4 2 4 1 0 11
BRCA1 8 0 2 0 1 11
BRCA2 7 0 1 2 1 11
CASK 4 1 6 0 0 11
CDKL5 7 1 2 1 0 11
CIC 1 1 6 3 0 11
CLCN5 5 1 5 0 0 11
COL4A2 0 3 7 1 0 11
COL5A1 0 1 10 0 0 11
DYNC2H1 2 3 6 0 0 11
EDA 7 3 1 0 0 11
ENG 8 2 1 0 0 11
FAT4 0 0 11 0 0 11
GBA1, LOC106627981 7 0 4 0 0 11
GLB1 6 2 3 0 0 11
GNAS 6 0 5 0 0 11
HECW2 1 1 8 1 0 11
PLA2G6 5 3 3 0 0 11
PMM2 9 2 0 0 0 11
PUF60 6 3 1 1 0 11
PURA 9 2 0 0 0 11
SATB2 9 0 2 0 0 11
SETBP1 7 0 3 1 0 11
ZNF292 6 0 4 1 0 11
ABCC6 4 1 3 2 0 10
APOB 2 1 7 0 0 10
BRAF 8 0 2 0 0 10
BRWD3 5 0 5 0 0 10
CLASP1, RNU4ATAC 8 2 0 0 0 10
DPYD 6 0 4 0 0 10
DYRK1A 6 1 3 0 0 10
EFTUD2 4 2 3 1 0 10
EPHB4 5 2 3 0 0 10
GIGYF1 7 1 2 0 0 10
HBB, LOC106099062, LOC107133510 10 0 0 0 0 10
ITPR1 2 4 4 0 0 10
KMT2E 5 2 2 1 0 10
LAMA2 5 2 3 0 0 10
MAGEL2 3 0 6 1 0 10
MYH11 0 0 10 0 0 10
NEB 4 1 5 0 0 10
OTC 6 3 1 0 0 10
RTTN 1 1 8 0 0 10
SLC7A9 5 1 4 0 0 10
SPTBN1 2 4 3 1 0 10
TET3 4 0 6 0 0 10
VPS13B 7 0 3 0 0 10
ABCC8 6 2 1 0 0 9
ACADM 5 1 2 1 0 9
ACADVL 5 3 1 0 0 9
AGXT 6 2 1 0 0 9
ALG8 6 1 2 0 0 9
ALG9 5 1 3 0 0 9
ATRIP, ATRIP-TREX1, TREX1 4 2 3 0 0 9
BPTF 2 1 5 1 0 9
BRAT1 2 2 5 0 0 9
CAPN3 7 0 2 0 0 9
CC2D2A 7 1 1 0 0 9
CDK13 3 0 6 0 0 9
CSRP3 0 2 7 0 0 9
CUL3 5 1 3 0 0 9
CYP21A2, LOC106780800 8 1 0 0 0 9
ENG, LOC102723566 7 2 0 0 0 9
FGFR2 6 1 2 0 0 9
FLT4 5 0 4 0 0 9
GAA 5 2 2 0 0 9
GALC 3 1 5 0 0 9
GH-LCR, SCN4A 3 0 6 0 0 9
GRIN2B 6 1 2 0 0 9
HEXA 9 0 0 0 0 9
JUP 2 0 7 0 0 9
KCNT1 5 1 3 0 0 9
KDM1A 0 0 9 0 0 9
KDM6B 4 0 5 0 0 9
LOC126861897, MHRT, MYH7 0 1 8 0 0 9
MEF2C 7 2 0 0 0 9
NALCN 3 2 3 1 0 9
NBAS 4 4 1 0 0 9
NFIA 3 1 4 1 0 9
NOTCH2 3 0 6 0 0 9
OTOF 2 1 6 0 0 9
PCDH19 3 3 3 0 0 9
PDZD7 3 2 4 0 0 9
PIGG 4 1 4 0 0 9
POGZ 4 1 3 1 0 9
RIT1 7 0 2 0 0 9
RRM2B 4 1 4 0 0 9
SAMD9 0 2 6 1 0 9
SDHA 3 3 3 0 0 9
SEC63 3 0 6 0 0 9
SLC6A1 6 3 0 0 0 9
SPTAN1 4 0 4 1 0 9
SZT2 2 0 7 0 0 9
TRIP12 4 1 4 0 0 9
TSC1 6 0 3 0 0 9
VCL 0 0 7 2 0 9
ZFHX3 1 5 3 0 0 9
ZFYVE26 3 0 6 0 0 9
ACTA2 4 1 3 0 0 8
AHDC1 1 1 5 1 0 8
ALMS1 2 0 6 0 0 8
AVPR2 4 1 3 0 0 8
CAD 1 1 6 0 0 8
COL12A1 0 4 3 1 0 8
CSNK2B 4 2 2 0 0 8
CTCF 4 2 2 0 0 8
DDX11 3 0 5 0 0 8
ERCC6 4 2 2 0 0 8
FGD1 4 1 2 1 0 8
FOXG1 5 2 1 0 0 8
HERC2 0 0 8 0 0 8
HNF1A 6 1 1 0 0 8
IRF2BPL 4 0 4 0 0 8
KRAS 6 1 1 0 0 8
LAMA5 1 1 6 0 0 8
LOC129992813, PKD2 8 0 0 0 0 8
MED12 3 0 4 1 0 8
MFN2 4 2 2 0 0 8
MVP-DT, PRRT2 4 2 2 0 0 8
NEB, RIF1 3 2 3 0 0 8
NFIB 3 1 4 0 0 8
NR5A1 5 1 2 0 0 8
NSD2 1 1 6 0 0 8
PAX2 2 0 6 0 0 8
POLR3A 3 2 3 0 0 8
POMT1 3 2 3 0 0 8
PPA2 4 2 2 0 0 8
PSEN1 4 3 1 0 0 8
PTCH1 1 2 5 0 0 8
PTPRQ 3 0 5 0 0 8
RARS2 2 4 2 0 0 8
RBM10 4 2 0 2 0 8
SGSH 4 1 3 0 0 8
SHANK2 7 0 1 0 0 8
SLC2A1 7 1 0 0 0 8
SMC1A 3 2 2 1 0 8
SPG7 7 0 1 0 0 8
TBCD 0 0 8 0 0 8
TCOF1 6 0 2 0 0 8
TERT 1 3 3 1 0 8
TNRC6B 3 0 4 1 0 8
TUBB3 5 1 2 0 0 8
ZBTB18 2 1 4 1 0 8
ZEB2 3 2 3 0 0 8
ZNF462 3 0 5 0 0 8
ABCC9 1 2 4 0 0 7
ACTA1 5 2 0 0 0 7
ACTC1, GJD2-DT 1 1 5 0 0 7
AGL 6 0 1 0 0 7
ANK3 1 0 6 0 0 7
ANO5 5 1 1 0 0 7
ASXL1 3 0 4 0 0 7
ATP2B1 2 2 2 1 0 7
BCL11B 3 0 4 0 0 7
CACNA1E 1 1 5 0 0 7
CACNA1G 1 0 6 0 0 7
CCNH, RASA1 5 1 1 0 0 7
CHD1 0 2 4 1 0 7
CPS1 2 0 5 0 0 7
CTNNB1 4 1 2 0 0 7
CUX1 4 0 3 0 0 7
DES 2 2 3 0 0 7
DIPK1A, RPL5 4 1 2 0 0 7
DNMT3A 4 1 2 0 0 7
EEF1A2 3 1 2 1 0 7
FGFR1 5 0 2 0 0 7
GATA3 7 0 0 0 0 7
GCK 3 3 1 0 0 7
GLA, RPL36A-HNRNPH2 4 0 2 1 0 7
GLI3 3 2 2 0 0 7
GNB1 5 1 1 0 0 7
GRIN1 2 1 4 0 0 7
HNRNPK 2 4 1 0 0 7
HSD17B4 3 4 0 0 0 7
INTS1 1 0 6 0 0 7
KIDINS220 1 0 6 0 0 7
KRIT1 6 0 1 0 0 7
LOC126859690, PKHD1 1 4 2 0 0 7
LRP5 2 0 4 1 0 7
MTHFR 6 0 1 0 0 7
NEXN 0 0 7 0 0 7
OFD1 5 0 2 0 0 7
OTOG 3 1 3 0 0 7
PEX6 6 0 1 0 0 7
PPP2R5D 5 0 1 1 0 7
PROC 2 4 1 0 0 7
RET 4 2 1 0 0 7
RPS6KA3 4 1 2 0 0 7
SETD1A 4 0 3 0 0 7
SMAD4 4 0 3 0 0 7
SMARCA4 2 1 4 0 0 7
SMN1 5 1 1 0 0 7
SPEN 4 0 2 1 0 7
TAOK1 3 2 2 0 0 7
TCF20 4 0 3 0 0 7
TGFBR2 1 2 3 1 0 7
USH1C 3 2 2 0 0 7
WDR62 3 1 3 0 0 7
ACAD9 3 3 0 0 0 6
ACTN1 0 1 5 0 0 6
AHI1 1 1 4 0 0 6
ALDH7A1 5 1 0 0 0 6
ANK2 4 0 2 0 0 6
AP4B1 3 0 3 0 0 6
ARID1A 1 0 4 1 0 6
ARSA 4 0 1 1 0 6
AUTS2 1 0 5 0 0 6
BBS2 4 1 1 0 0 6
BCORL1 0 0 6 0 0 6
BRIP1 3 0 3 0 0 6
BTD 4 0 2 0 0 6
CASQ2 2 0 4 0 0 6
CHD5 1 1 3 1 0 6
CLCN4 2 0 4 0 0 6
CLTC 2 2 2 0 0 6
CNOT1 0 0 6 0 0 6
COL5A2 1 2 3 0 0 6
DARS2 1 1 4 0 0 6
DHX37 2 0 4 0 0 6
DKC1 0 3 2 1 0 6
DLG4 3 1 2 0 0 6
DNAJB11 4 0 2 0 0 6
DNM2 2 0 4 0 0 6
EARS2 2 1 3 0 0 6
EMC1 1 2 3 0 0 6
EYA1 5 0 1 0 0 6
F11 6 0 0 0 0 6
FANCA 4 1 1 0 0 6
FBXO11 3 1 2 0 0 6
FOXP2 4 1 1 0 0 6
GATA4 0 1 3 2 0 6
GNAO1 5 1 0 0 0 6
GREB1L 1 2 3 0 0 6
GRN 3 1 2 0 0 6
HBA-LCR, NPRL3 3 0 2 1 0 6
HCFC1 0 0 6 0 0 6
HIVEP2 1 0 5 0 0 6
HSD17B3, SLC35D2-HSD17B3 4 1 1 0 0 6
ITSN1 0 0 6 0 0 6
JPH2 0 1 5 0 0 6
KCNB1 3 1 2 0 0 6
KCNJ1 1 3 2 0 0 6
KCNMA1 0 1 5 0 0 6
KCNQ4 0 2 3 1 0 6
KCNT2 0 1 5 0 0 6
KIAA0586 4 1 1 0 0 6
KIF11 3 1 2 0 0 6
KMT2B 4 0 2 0 0 6
KMT5B 3 2 1 0 0 6
LAMA1 2 0 4 0 0 6
MAST1 1 3 2 0 0 6
MMACHC 4 0 2 0 0 6
MTM1 5 1 0 0 0 6
MVK 4 2 0 0 0 6
MYH2, MYHAS 1 0 5 0 0 6
MYLK 0 0 5 1 0 6
NAA15 4 1 1 0 0 6
NEK8 2 0 4 0 0 6
NEXMIF 2 0 3 1 0 6
NPHP4 4 0 2 0 0 6
NPHS2 3 1 2 0 0 6
NUS1 4 0 2 0 0 6
PAX3 1 2 3 0 0 6
PEX1 4 0 2 0 0 6
PIK3CA 3 1 2 0 0 6
SEC23B 4 2 0 0 0 6
SETX 1 0 5 0 0 6
SIN3A 3 1 2 0 0 6
SKI 0 2 3 1 0 6
SLC16A2 2 3 1 0 0 6
SLC20A2 4 0 2 0 0 6
SLC34A1 2 1 3 0 0 6
SLC34A3 4 0 2 0 0 6
SNHG14, UBE3A 4 1 1 0 0 6
SPRED1 6 0 0 0 0 6
SRD5A2 5 0 1 0 0 6
TAF1 0 0 6 0 0 6
TBC1D24 4 1 1 0 0 6
TBX5 3 0 3 0 0 6
TCF12 3 0 3 0 0 6
TECRL 2 2 2 0 0 6
THRB 3 2 1 0 0 6
TMPRSS3 6 0 0 0 0 6
TNXB 3 0 3 0 0 6
TRPC6 3 1 2 0 0 6
TRPM3 1 0 4 1 0 6
TRPS1 4 0 2 0 0 6
TTC7A 4 1 1 0 0 6
TUBGCP6 1 0 5 0 0 6
TWNK 4 2 0 0 0 6
UNC80 2 1 2 1 0 6
VPS13D 1 0 5 0 0 6
WT1 6 0 0 0 0 6
AARS2 3 0 2 0 0 5
ABCA3 1 0 4 0 0 5
ABCB11 1 4 0 0 0 5
ABCD1, PLXNB3 3 2 0 0 0 5
ACTG2 5 0 0 0 0 5
ACTL6B 2 1 2 0 0 5
ADA2 3 1 1 0 0 5
ADAMTS13 2 2 1 0 0 5
ADAMTSL4 4 1 0 0 0 5
AFG2A 3 1 1 0 0 5
ALDH18A1 2 0 3 0 0 5
ALG3 2 2 1 0 0 5
ANKRD26 3 0 2 0 0 5
AP4M1 3 1 1 0 0 5
AP5Z1 0 0 5 0 0 5
APP 2 1 2 0 0 5
ARCN1 3 1 1 0 0 5
ARFGEF1 3 0 2 0 0 5
ARID2 3 0 2 0 0 5
ATL1 0 4 1 0 0 5
ATP1A2 3 1 1 0 0 5
BCHE 1 2 1 0 1 5
BEST1 2 1 1 1 0 5
BLTP1 0 0 4 1 0 5
BMPR2 1 0 4 0 0 5
CACNA1S 2 0 3 0 0 5
CBL 2 1 2 0 0 5
CDAN1 0 0 5 0 0 5
CHM 4 0 1 0 0 5
CLCN1 4 1 0 0 0 5
CNGB3 4 1 0 0 0 5
CSF1R 1 3 1 0 0 5
CTNNB1, LOC126806659 2 0 3 0 0 5
CTNND1, TMX2-CTNND1 4 0 1 0 0 5
CUL4B 0 1 4 0 0 5
DEAF1 3 1 1 0 0 5
DNAI1 1 0 4 0 0 5
DNMT1 1 0 3 1 0 5
DONSON 2 2 0 1 0 5
DYSF 3 0 2 0 0 5
EBF3 1 3 1 0 0 5
ECEL1 1 4 0 0 0 5
EIF2B5 4 1 0 0 0 5
ELN 0 3 2 0 0 5
ERF 2 1 2 0 0 5
ETFDH 4 1 0 0 0 5
EZH2 1 1 3 0 0 5
FBXL4 2 1 2 0 0 5
FKRP 2 1 2 0 0 5
FN1 2 0 2 1 0 5
GBE1 1 1 3 0 0 5
GCDH 4 1 0 0 0 5
GJB1 3 2 0 0 0 5
GLDC 2 1 2 0 0 5
GPT2 0 0 5 0 0 5
HERC1 1 0 4 0 0 5
HNF1B, LOC126862549 3 0 2 0 0 5
HNRNPU 1 0 4 0 0 5
HRAS, LRRC56 5 0 0 0 0 5
HSPG2 2 1 2 0 0 5
IDUA 4 0 1 0 0 5
IGHMBP2 5 0 0 0 0 5
IRAK1BP1, PHIP 2 1 2 0 0 5
KANSL1 2 0 2 1 0 5
KLHL40 2 2 1 0 0 5
LDB3 0 0 3 2 0 5
LOXHD1 1 2 2 0 0 5
MBD5 0 0 5 0 0 5
MEIS2 0 1 4 0 0 5
MFSD8 3 1 1 0 0 5
MHRT, MYH7 0 2 2 1 0 5
MN1 2 1 2 0 0 5
MORC2 4 0 1 0 0 5
MYH11, NDE1 0 1 4 0 0 5
MYL2 0 0 5 0 0 5
NARS1 2 0 3 0 0 5
NFIX 5 0 0 0 0 5
NKX2-5 2 1 2 0 0 5
NLGN4X 1 0 4 0 0 5
NOTCH1 2 1 1 1 0 5
NPHP3, NPHP3-ACAD11 3 1 1 0 0 5
NRAS 5 0 0 0 0 5
OCRL 3 0 2 0 0 5
PARN 2 1 2 0 0 5
PBX1 2 1 2 0 0 5
PCDH12, RNF14 1 0 4 0 0 5
PGK1 1 0 4 0 0 5
PHIP 1 4 0 0 0 5
PLPBP 3 0 2 0 0 5
PNKP 3 0 2 0 0 5
PNPT1 3 2 0 0 0 5
POLR1A 0 1 4 0 0 5
PRMT7 3 2 0 0 0 5
PRR12 3 0 2 0 0 5
PYGM 3 0 2 0 0 5
QRICH1 2 1 2 0 0 5
RAB3GAP2 0 0 5 0 0 5
RPGRIP1L 3 1 1 0 0 5
SALL1 3 0 2 0 0 5
SBDS 2 3 0 0 0 5
SCN1A, SCN9A 3 0 1 1 0 5
SCN3A 1 2 2 0 0 5
SH3TC2 2 0 3 0 0 5
SHH 1 3 1 0 0 5
SLC45A2 3 2 0 0 0 5
SLC4A1 3 0 2 0 0 5
SRCAP 3 0 1 1 0 5
SRRM2 2 0 3 0 0 5
STAG1 0 1 2 2 0 5
TAF2 0 1 4 0 0 5
TAFAZZIN 2 1 2 0 0 5
TANGO2 4 0 0 1 0 5
THOC6 0 3 1 1 0 5
THSD4 0 0 5 0 0 5
TLK2 4 0 0 1 0 5
TOP3A 2 0 3 0 0 5
TPP1 4 1 0 0 0 5
TRAPPC9 1 0 4 0 0 5
TRPM6 3 1 1 0 0 5
UNC13D 4 0 1 0 0 5
UPF3B 3 0 2 0 0 5
WDR11 0 0 5 0 0 5
WDR45 4 0 1 0 0 5
ZC4H2 2 1 2 0 0 5
ZFHX4 1 1 3 0 0 5
ZMIZ1 1 1 3 0 0 5
ZNF335 0 0 4 1 0 5
ABCD1 0 2 2 0 0 4
ACTG1 2 1 1 0 0 4
ACTN4 1 0 3 0 0 4
AFF4 0 1 3 0 0 4
ALDH5A1 2 1 1 0 0 4
ALG1 2 2 0 0 0 4
ANKRD17 1 0 3 0 0 4
ANOS1 2 0 2 0 0 4
APC 4 0 0 0 0 4
ASPA, SPATA22 3 1 0 0 0 4
ASXL2 1 0 3 0 0 4
ASXL3 3 0 1 0 0 4
ATAD3A 0 0 4 0 0 4
ATP1A1 1 0 3 0 0 4
ATP2B2 0 3 1 0 0 4
ATP6V1A 0 1 3 0 0 4
AXDND1, NPHS2 0 2 2 0 0 4
BAZ2B 0 0 4 0 0 4
BCL11A 2 0 2 0 0 4
BCS1L 2 1 1 0 0 4
BSCL2, HNRNPUL2-BSCL2 1 1 2 0 0 4
CACNA1D 0 1 3 0 0 4
CACNA1F 3 0 1 0 0 4
CAMK2B 0 2 2 0 0 4
CAMTA1 1 1 1 1 0 4
CBS 1 0 3 0 0 4
CCDC22 0 1 2 1 0 4
CCDC39 3 0 1 0 0 4
CERS1, GDF1 2 2 0 0 0 4
CERT1 1 2 1 0 0 4
CFH 0 2 2 0 0 4
CNTNAP2 3 0 1 0 0 4
COCH 2 0 2 0 0 4
COL9A3 0 0 4 0 0 4
COLQ 4 0 0 0 0 4
CRB1 2 2 0 0 0 4
CSNK2A1 3 0 1 0 0 4
CTC1 2 0 2 0 0 4
CTR9 2 0 2 0 0 4
CUX2 0 0 4 0 0 4
CYP1B1 1 1 2 0 0 4
CYP7B1 2 1 1 0 0 4
DCC 3 0 1 0 0 4
DDC 1 3 0 0 0 4
DNM1L 2 1 1 0 0 4
DOCK7 2 0 2 0 0 4
DSC2 0 0 4 0 0 4
EIF2B2 2 0 2 0 0 4
ELANE 4 0 0 0 0 4
EPG5 2 1 1 0 0 4
F5 2 1 1 0 0 4
FAM111A 1 0 2 0 1 4
FAN1 2 0 2 0 0 4
FANCD2, LOC107303338 2 0 2 0 0 4
FAT1 0 0 4 0 0 4
FH 2 2 0 0 0 4
FKTN 2 0 2 0 0 4
FLNB 1 2 1 0 0 4
GABRB2 0 1 3 0 0 4
GABRB3 1 0 3 0 0 4
GALT 3 0 1 0 0 4
GATA1 2 1 1 0 0 4
GATA5 0 0 4 0 0 4
GATA6 1 0 3 0 0 4
GATAD1, PEX1 2 0 2 0 0 4
GLDN 2 1 1 0 0 4
GMPPB 2 1 1 0 0 4
GP1BA 1 2 1 0 0 4
GPR143 3 1 0 0 0 4
GRHPR 3 1 0 0 0 4
GRIA3 1 1 2 0 0 4
GTPBP3 0 0 4 0 0 4
HMGCS2 0 3 1 0 0 4
HNF4A 2 2 0 0 0 4
IDS, LOC106050102 1 2 1 0 0 4
IGF1R 1 1 2 0 0 4
KCNA2 1 1 2 0 0 4
KCNH1 1 0 3 0 0 4
KIAA0753 2 2 0 0 0 4
KIF14 0 0 4 0 0 4
KIF5C 0 0 4 0 0 4
KLHL24 0 0 4 0 0 4
LAMB1 2 1 1 0 0 4
LAMP2 1 0 2 1 0 4
LAS1L 0 0 4 0 0 4
LMX1B 1 1 2 0 0 4
LOC110121269, SCN5A 1 0 2 1 0 4
LOC110806306, TERC 0 3 1 0 0 4
LOC123956210, SLC26A4 4 0 0 0 0 4
LOC126862361, SLC12A3 4 0 0 0 0 4
LPL 2 1 1 0 0 4
MAP1B 2 0 2 0 0 4
MAP3K1 1 0 1 1 1 4
MAPK8IP3 2 0 2 0 0 4
MCPH1 0 0 4 0 0 4
MECOM 1 0 3 0 0 4
MMUT 3 1 0 0 0 4
MPL 3 1 0 0 0 4
MSL3 1 1 1 1 0 4
MYH3 1 1 2 0 0 4
MYO6 2 0 2 0 0 4
MYOM1 0 0 3 1 0 4
NAXD 1 3 0 0 0 4
NCKAP1 1 1 1 1 0 4
NDP 1 1 2 0 0 4
NDUFAF6 2 2 0 0 0 4
NDUFS1 2 1 1 0 0 4
NEBL 0 0 3 1 0 4
NPHP3-ACAD11, UBA5 1 1 2 0 0 4
NR0B1 2 1 0 1 0 4
OGT 0 1 3 0 0 4
OTOA 2 0 2 0 0 4
PALB2 3 1 0 0 0 4
PARS2 1 1 2 0 0 4
PGAP3 1 2 1 0 0 4
PHEX, PTCHD1 3 1 0 0 0 4
PI4KA 0 1 3 0 0 4
PIGN 0 1 3 0 0 4
PLXNA1 1 2 1 0 0 4
PNPLA8 0 0 4 0 0 4
PNPO 2 1 1 0 0 4
POLE 3 0 1 0 0 4
POLR3B 1 2 1 0 0 4
POLRMT 1 0 3 0 0 4
POMGNT1, TSPAN1 3 0 1 0 0 4
PPOX 1 0 3 0 0 4
PPT1 4 0 0 0 0 4
PRDM16 0 1 3 0 0 4
PRKAG2 2 0 2 0 0 4
PRKCSH 3 0 1 0 0 4
PROKR2 0 2 1 1 0 4
PROS1 1 1 2 0 0 4
PRPF31 1 0 2 1 0 4
PRPF8 0 1 3 0 0 4
PTCHD1 1 0 3 0 0 4
PTPN23 0 0 4 0 0 4
PTS 3 1 0 0 0 4
RAC1 1 1 2 0 0 4
RB1 4 0 0 0 0 4
RECQL4 1 0 2 0 1 4
RELN, SLC26A5 1 0 3 0 0 4
RHO 4 0 0 0 0 4
RHOBTB2 2 0 2 0 0 4
RNF213 2 0 1 1 0 4
RUNX1 3 0 1 0 0 4
SACS 3 0 1 0 0 4
SCAF4 3 0 1 0 0 4
SCN1B 1 1 2 0 0 4
SERPINA1 3 1 0 0 0 4
SHANK3 2 0 2 0 0 4
SI 2 1 1 0 0 4
SKIC3 1 1 2 0 0 4
SLC19A3 1 2 1 0 0 4
SLC52A2 3 0 1 0 0 4
SLC5A2 1 0 3 0 0 4
SLC6A5 1 2 0 1 0 4
SLC6A8 3 1 0 0 0 4
SMAD6 1 0 3 0 0 4
SMARCA5 0 2 2 0 0 4
SOD1 4 0 0 0 0 4
SOS2 1 0 3 0 0 4
SOX5 2 0 2 0 0 4
SPINK5 4 0 0 0 0 4
SPTBN4 1 0 3 0 0 4
STAG2 0 1 3 0 0 4
STRC 0 1 3 0 0 4
SUPT16H 0 0 4 0 0 4
TAF4 2 0 2 0 0 4
TANC2 0 0 4 0 0 4
TARS2 1 0 3 0 0 4
TBL1XR1 1 0 3 0 0 4
TBR1 3 1 0 0 0 4
TGFB2 3 0 1 0 0 4
TGM5 2 0 2 0 0 4
TNFRSF13B 3 0 1 0 0 4
TRAF7 1 1 2 0 0 4
TRAPPC12 2 0 2 0 0 4
TRDN 0 0 4 0 0 4
TRIM63 0 1 3 0 0 4
TRIM8 3 0 1 0 0 4
TRIOBP 2 0 2 0 0 4
TSHR 3 1 0 0 0 4
TSPEAR 2 1 1 0 0 4
TUBB 0 2 2 0 0 4
USP7 2 0 2 0 0 4
WNT10A 2 0 2 0 0 4
ZBTB20 1 1 1 1 0 4
ZIC3 0 1 2 1 0 4
ZNF142 1 1 1 0 1 4
ZNF469 3 0 1 0 0 4
AAAS 1 0 2 0 0 3
ABCC9, KCNJ8 1 0 2 0 0 3
ADAR 1 1 1 0 0 3
ADCY5 1 0 2 0 0 3
ADGRG1 2 0 1 0 0 3
AFF2 0 0 3 0 0 3
AFG3L2 2 0 1 0 0 3
AGK 3 0 0 0 0 3
AGO1 1 1 1 0 0 3
AIFM1, RAB33A 0 0 3 0 0 3
ALDOB 2 1 0 0 0 3
ALS2 2 0 1 0 0 3
AMH 1 1 0 1 0 3
ANK2, LOC126807136 2 0 1 0 0 3
ANLN 0 0 3 0 0 3
ANO10 1 2 0 0 0 3
ANXA11 0 1 2 0 0 3
ARFGEF2 1 0 2 0 0 3
ASS1 3 0 0 0 0 3
ATP1A3 2 1 0 0 0 3
ATP6AP2 0 0 3 0 0 3
ATP6V0A1 1 0 2 0 0 3
ATP6V1B1 3 0 0 0 0 3
ATP6V1B2 2 1 0 0 0 3
BAP1 1 1 1 0 0 3
BBS10 1 2 0 0 0 3
BICRA 2 0 1 0 0 3
BIVM-ERCC5, ERCC5 1 0 2 0 0 3
BSN 0 1 2 0 0 3
BTK 2 0 1 0 0 3
C19orf12 3 0 0 0 0 3
C1R 0 1 0 2 0 3
CACNA1H 0 0 3 0 0 3
CARS2 0 2 1 0 0 3
CCND2 2 0 1 0 0 3
CDK8 0 1 2 0 0 3
CEP104 1 0 2 0 0 3
CFI 1 0 2 0 0 3
CFTR, LOC111674475 3 0 0 0 0 3
CHAT 2 1 0 0 0 3
CKAP2L 2 0 1 0 0 3
CLCN5, LOC126863258 2 1 0 0 0 3
CLDN5 1 0 2 0 0 3
CNOT3 1 1 1 0 0 3
COL10A1, NT5DC1 0 0 3 0 0 3
COL11A2 0 0 3 0 0 3
COL1A1, LOC126862586 3 0 0 0 0 3
COL4A3, LOC129935730 2 0 1 0 0 3
COL6A1 1 1 1 0 0 3
COL9A1 0 0 3 0 0 3
COL9A2 0 0 3 0 0 3
COX15 0 3 0 0 0 3
CPT2 2 0 1 0 0 3
CTNNB1, LOC126806658 3 0 0 0 0 3
CYBB 3 0 0 0 0 3
CYP11B1, LOC106799833 1 1 0 1 0 3
DARS1 0 2 1 0 0 3
DCX 2 1 0 0 0 3
DDX6 0 1 2 0 0 3
DHDDS 2 1 0 0 0 3
DHX30 1 0 2 0 0 3
DLG3 0 0 3 0 0 3
DLL1 1 1 1 0 0 3
DNAH1 0 0 3 0 0 3
DNAJC21 1 1 1 0 0 3
DNM1 1 0 1 1 0 3
DOK7 1 1 1 0 0 3
DPF2 0 2 1 0 0 3
DVL1 0 0 2 1 0 3
EDNRB 1 1 1 0 0 3
EEF2 0 0 3 0 0 3
EFNB1 2 1 0 0 0 3
EPHB4, LOC126860124 3 0 0 0 0 3
EPRS1 1 0 2 0 0 3
ERCC3 3 0 0 0 0 3
ETHE1 1 1 1 0 0 3
EVC2 2 0 1 0 0 3
EXOSC3 1 2 0 0 0 3
EXT1 3 0 0 0 0 3
F2 1 0 2 0 0 3
FAN1, MTMR10 2 1 0 0 0 3
FBXW7 1 2 0 0 0 3
FDXR 0 1 2 0 0 3
FECH 2 0 1 0 0 3
FLCN 3 0 0 0 0 3
FMN2 0 0 1 2 0 3
FOXC2 3 0 0 0 0 3
FOXP4 0 1 2 0 0 3
FOXRED1 1 1 1 0 0 3
FRAS1 3 0 0 0 0 3
FRMD7 2 0 1 0 0 3
GABRA2 0 2 1 0 0 3
GABRD 1 0 2 0 0 3
GABRG2 1 1 1 0 0 3
GALNS 3 0 0 0 0 3
GATAD2B 3 0 0 0 0 3
GCH1 0 1 2 0 0 3
GEMIN5 0 2 1 0 0 3
GLI2 0 1 2 0 0 3
GLMN 3 0 0 0 0 3
GNAI1 1 1 1 0 0 3
GNRHR 3 0 0 0 0 3
GRIA1 0 0 3 0 0 3
GRIA2 0 0 3 0 0 3
GRIN2A 2 0 1 0 0 3
GYG1 2 1 0 0 0 3
GYS2 3 0 0 0 0 3
H3-3B 1 1 1 0 0 3
HADHA 1 2 0 0 0 3
HCN4 0 0 3 0 0 3
HDAC8 2 1 0 0 0 3
HECTD1 0 0 3 0 0 3
HEXB 1 1 1 0 0 3
HFE 2 0 0 1 0 3
HLCS 2 1 0 0 0 3
HMGCL 3 0 0 0 0 3
HOGA1 2 1 0 0 0 3
HPS1 2 1 0 0 0 3
HSALR1, PIEZO1 1 0 1 1 0 3
HTRA1 2 0 1 0 0 3
HYLS1, PUS3 2 0 1 0 0 3
IARS1 0 0 3 0 0 3
IBA57 2 1 0 0 0 3
IFT172 0 1 2 0 0 3
IGF2, INS-IGF2 0 0 3 0 0 3
IL1RAPL1 1 0 2 0 0 3
IQCE 3 0 0 0 0 3
ITPA 1 1 1 0 0 3
JMJD1C 0 0 3 0 0 3
JMJD8, STUB1 0 0 3 0 0 3
KCNA1 0 1 2 0 0 3
KCNC2 0 0 3 0 0 3
KCND3 0 3 0 0 0 3
KCNE2, LOC105372791 0 0 3 0 0 3
KCNJ2 2 0 1 0 0 3
KCNQ3 1 0 2 0 0 3
KCTD7 1 1 1 0 0 3
KIF1C 0 0 2 1 0 3
KIF21B 0 1 2 0 0 3
KIF22 2 0 1 0 0 3
KIF5A 1 0 2 0 0 3
KLHL7 0 2 1 0 0 3
KPTN 1 0 2 0 0 3
KRT1 1 0 2 0 0 3
KRT10 1 2 0 0 0 3
LAMA4 0 0 3 0 0 3
LARP7 2 0 1 0 0 3
LARS2 1 2 0 0 0 3
LDB3, LOC110121486 1 0 2 0 0 3
LHCGR, STON1-GTF2A1L 1 0 2 0 0 3
LIPA 2 1 0 0 0 3
LIPT1, MITD1 1 2 0 0 0 3
LMBRD2 0 1 1 1 0 3
LMNA, LOC126805877 1 1 1 0 0 3
LOC101927055, TTN 0 2 1 0 0 3
LOC107982234, WT1 0 0 2 1 0 3
LOC126806068, RYR2 0 3 0 0 0 3
LOC126806423, TTN 1 2 0 0 0 3
LOC126806424, TTN 1 1 1 0 0 3
LOC126862264, MEFV 3 0 0 0 0 3
LOC126863137, MYH9 0 1 2 0 0 3
LRBA, MAB21L2 1 0 2 0 0 3
LRPPRC 1 1 1 0 0 3
LRRK2 1 0 2 0 0 3
LSS 1 1 1 0 0 3
MAN2B1 3 0 0 0 0 3
MANBA 1 2 0 0 0 3
MAPT 3 0 0 0 0 3
MAST3 1 0 2 0 0 3
MBD4 2 1 0 0 0 3
MC4R 2 0 1 0 0 3
MCM3AP 2 1 0 0 0 3
METTL23 2 1 0 0 0 3
MFSD2A 0 0 3 0 0 3
MIPEP 0 2 1 0 0 3
MIR1225, PKD1 2 0 1 0 0 3
MIR6511B1, PKD1 2 1 0 0 0 3
MITF 1 1 1 0 0 3
MOCS1 3 0 0 0 0 3
MOGS 0 1 2 0 0 3
MPZ 2 1 0 0 0 3
MRPL39 1 2 0 0 0 3
MYCN 1 0 2 0 0 3
MYH14 0 0 3 0 0 3
MYH8, MYHAS 1 0 2 0 0 3
MYO19, PIGW 0 0 3 0 0 3
MYORG 0 2 1 0 0 3
NAA20 0 0 3 0 0 3
NAGLU 3 0 0 0 0 3
NDUFA9 0 1 2 0 0 3
NFKB1 1 1 1 0 0 3
NGLY1 1 2 0 0 0 3
NODAL 0 2 1 0 0 3
NPRL2 1 1 1 0 0 3
NR2E3 1 1 1 0 0 3
NR2F2 1 1 1 0 0 3
P3H1 1 1 1 0 0 3
PACS2 1 0 2 0 0 3
PAK3 0 0 3 0 0 3
PAX1 0 0 3 0 0 3
PAX6 1 1 1 0 0 3
PCCA 2 1 0 0 0 3
PDE6A 1 0 2 0 0 3
PDSS1 0 2 1 0 0 3
PHF6 2 0 1 0 0 3
PHF8 0 0 3 0 0 3
PHGDH 1 1 1 0 0 3
PIEZO1 0 1 2 0 0 3
PIGA 0 0 3 0 0 3
PKD1L1 2 0 1 0 0 3
PKLR 2 1 0 0 0 3
PLP1, RAB9B 0 2 1 0 0 3
PMPCB 0 0 3 0 0 3
PMS2 3 0 0 0 0 3
PNPLA6 0 1 2 0 0 3
POLA1 0 0 1 2 0 3
POLD1 0 1 2 0 0 3
POLG, POLGARF 1 0 2 0 0 3
POR 1 1 0 0 1 3
PPM1D 3 0 0 0 0 3
PQBP1 1 0 2 0 0 3
PRF1 3 0 0 0 0 3
PTPN4 1 1 1 0 0 3
RAB11B 1 0 2 0 0 3
RAD51 0 1 2 0 0 3
RAD51C 3 0 0 0 0 3
RAI1 1 0 2 0 0 3
RAPSN 2 1 0 0 0 3
RARB 0 3 0 0 0 3
RARS1 0 1 2 0 0 3
RFT1 0 1 2 0 0 3
RMRP 3 0 0 0 0 3
RNASEH2C 1 1 1 0 0 3
ROBO3 2 0 1 0 0 3
ROBO4 0 0 3 0 0 3
RP1L1 0 0 3 0 0 3
RPGR 2 0 0 1 0 3
RPGRIP1 0 0 3 0 0 3
SHANK1 1 1 1 0 0 3
SHOC2 2 0 1 0 0 3
SLC12A1 2 0 1 0 0 3
SLC12A2 0 0 3 0 0 3
SLC2A10 1 0 2 0 0 3
SLC32A1 0 0 3 0 0 3
SLC3A1 2 0 1 0 0 3
SMARCAL1 3 0 0 0 0 3
SMARCB1 2 0 0 1 0 3
SMC3 1 1 1 0 0 3
SMPD4 1 0 2 0 0 3
SNRNP200 0 0 3 0 0 3
SOX4 2 1 0 0 0 3
SOX6 1 1 1 0 0 3
SPTA1 2 0 1 0 0 3
SPTB 0 1 2 0 0 3
SPTBN2 1 1 1 0 0 3
SQSTM1 0 1 2 0 0 3
SRD5A3 1 1 1 0 0 3
STING1 1 1 1 0 0 3
STT3A 1 0 2 0 0 3
SUFU 0 0 3 0 0 3
TAB2 3 0 0 0 0 3
TBCK 3 0 0 0 0 3
TBX20 1 1 1 0 0 3
TCIRG1 3 0 0 0 0 3
TCTN3 0 0 3 0 0 3
TELO2 2 1 0 0 0 3
TENM3 1 0 2 0 0 3
TGM1 3 0 0 0 0 3
THRA 1 1 1 0 0 3
TINF2 0 0 3 0 0 3
TMEM67 2 0 1 0 0 3
TRMT10A 1 2 0 0 0 3
TSFM 2 1 0 0 0 3
TTR 2 0 1 0 0 3
TUBB4A 1 1 1 0 0 3
TWIST1 2 0 0 1 0 3
UBAP2L 0 0 3 0 0 3
UCHL1 2 1 0 0 0 3
UNC79 2 0 1 0 0 3
VARS1 2 0 1 0 0 3
VARS2 2 1 0 0 0 3
WAC 3 0 0 0 0 3
WAS 3 0 0 0 0 3
WDR26 2 1 0 0 0 3
WDR4 0 1 2 0 0 3
WDR81 1 2 0 0 0 3
WWOX 1 1 1 0 0 3
XPA 3 0 0 0 0 3
YY1 1 2 0 0 0 3
ZMYND8 0 0 3 0 0 3
ABAT 1 1 0 0 0 2
ABCA12 1 0 1 0 0 2
ABCA4, LOC126805793 2 0 0 0 0 2
ACADS 1 0 0 1 0 2
ACE 1 1 0 0 0 2
ACO2 0 0 2 0 0 2
ACSL4 0 0 2 0 0 2
ADAMTS3 0 0 2 0 0 2
ADAMTSL2 0 0 1 1 0 2
ADSL 0 2 0 0 0 2
AGPAT2 1 1 0 0 0 2
AIRE 1 0 1 0 0 2
ALG13 1 0 1 0 0 2
ALG6 1 0 1 0 0 2
ALOXE3 1 0 1 0 0 2
AMMECR1 2 0 0 0 0 2
AP1G1 0 0 2 0 0 2
AP4S1 0 1 1 0 0 2
ARHGAP31 0 0 2 0 0 2
ARHGAP35 1 1 0 0 0 2
ARID1A, LOC129929837 1 0 1 0 0 2
ARMC9 0 0 2 0 0 2
ARSB 2 0 0 0 0 2
ARSL 0 1 1 0 0 2
ARX 2 0 0 0 0 2
ASCC1 1 1 0 0 0 2
ATIC, FN1 0 0 2 0 0 2
ATP8B1 2 0 0 0 0 2
ATXN7L3, UBTF 1 0 1 0 0 2
B3GALT6 0 1 1 0 0 2
BBS5 0 0 2 0 0 2
BBS7 1 0 1 0 0 2
BBS9 0 1 1 0 0 2
BCKDHB 2 0 0 0 0 2
BCOR 2 0 0 0 0 2
BGN 0 1 1 0 0 2
BICD2 0 0 1 1 0 2
BLM 2 0 0 0 0 2
BMP2 1 1 0 0 0 2
BMP4 0 0 2 0 0 2
BRD4 0 0 2 0 0 2
BUB1B 0 0 2 0 0 2
C17orf107, CHRNE 0 0 2 0 0 2
C1orf105, PIGC 0 0 2 0 0 2
C2CD3 0 0 2 0 0 2
C3 1 0 1 0 0 2
CACNA1D, LOC129936904 0 0 2 0 0 2
CACNB2 0 0 2 0 0 2
CALM3 2 0 0 0 0 2
CAMK2A 1 0 1 0 0 2
CAMK2D 1 1 0 0 0 2
CARD14 1 0 1 0 0 2
CARS1 0 0 2 0 0 2
CCDC40 1 0 1 0 0 2
CCN6 2 0 0 0 0 2
CDH1 0 0 2 0 0 2
CDH11 1 0 1 0 0 2
CDK19 0 0 1 1 0 2
CDON 0 0 2 0 0 2
CENPF 2 0 0 0 0 2
CEP85L, PLN 2 0 0 0 0 2
CERKL 2 0 0 0 0 2
CFAP298, CFAP298-TCP10L 1 0 1 0 0 2
CFAP410 1 0 1 0 0 2
CFTR, LOC111674472 2 0 0 0 0 2
CFTR, LOC111674477 1 1 0 0 0 2
CHRDL1 1 1 0 0 0 2
CIT 0 0 2 0 0 2
CLCN2 0 0 2 0 0 2
CLCN6 0 0 2 0 0 2
CLCNKB, LOC106501713 2 0 0 0 0 2
CLDN16 1 1 0 0 0 2
CLN3 1 1 0 0 0 2
CNGA3 2 0 0 0 0 2
CNKSR2 1 0 1 0 0 2
CNNM2 0 1 1 0 0 2
CNOT2 0 0 2 0 0 2
CNTNAP1 1 0 1 0 0 2
COASY 1 1 0 0 0 2
COCH, LOC100506071 1 1 0 0 0 2
COG4 0 0 2 0 0 2
COG8 0 0 2 0 0 2
COL13A1 1 1 0 0 0 2
COL25A1 0 2 0 0 0 2
COPB2 0 1 1 0 0 2
COQ7 2 0 0 0 0 2
COQ8A 1 0 1 0 0 2
CPOX 0 0 2 0 0 2
CRB2 1 1 0 0 0 2
CRPPA 1 0 1 0 0 2
CRTAP 2 0 0 0 0 2
CSF3R 1 0 1 0 0 2
CTBP1 1 0 1 0 0 2
CTNNA3 0 0 2 0 0 2
CTNND2 0 0 2 0 0 2
CTSA 1 0 1 0 0 2
CYB5R3 2 0 0 0 0 2
CYP27A1 1 0 1 0 0 2
CYP2U1 0 1 1 0 0 2
DAAM2 0 0 2 0 0 2
DAG1 0 0 2 0 0 2
DBR1 1 1 0 0 0 2
DCHS1 0 1 1 0 0 2
DCTN1 0 1 1 0 0 2
DDX23 0 1 1 0 0 2
DGAT1 2 0 0 0 0 2
DHPS 2 0 0 0 0 2
DHTKD1 1 0 1 0 0 2
DIAPH1 0 0 2 0 0 2
DIS3L2 0 0 2 0 0 2
DLAT 0 1 1 0 0 2
DNA2 0 1 0 1 0 2
DNAAF11 0 1 1 0 0 2
DNAAF4, DNAAF4-CCPG1 1 1 0 0 0 2
DNAH9 0 0 2 0 0 2
DOCK11 0 1 1 0 0 2
DPYS 1 1 0 0 0 2
DTNA 0 0 2 0 0 2
DUOX2 2 0 0 0 0 2
DYNC2LI1 0 0 2 0 0 2
DZIP1L 0 1 0 1 0 2
EBP 1 1 0 0 0 2
EED 1 1 0 0 0 2
EEF1D 0 1 1 0 0 2
EFEMP2 0 0 2 0 0 2
EGR2 1 1 0 0 0 2
EIF2B1, LOC126861664 1 0 1 0 0 2
EIF2B4 1 1 0 0 0 2
ELAC2 0 0 1 1 0 2
ELP2 1 1 0 0 0 2
EMD 2 0 0 0 0 2
ENO3 0 1 1 0 0 2
ENPP1 0 2 0 0 0 2
EPAS1 2 0 0 0 0 2
EPHA2 0 0 2 0 0 2
EPS8L2 1 0 1 0 0 2
ERCC1 2 0 0 0 0 2
ERCC2 1 1 0 0 0 2
ERCC4 0 0 1 1 0 2
ERCC8, NDUFAF2 1 1 0 0 0 2
ETFA 2 0 0 0 0 2
ETV6 0 0 2 0 0 2
EYS 2 0 0 0 0 2
EYS, PHF3 2 0 0 0 0 2
F7 2 0 0 0 0 2
FA2H 1 0 1 0 0 2
FANCC 2 0 0 0 0 2
FANCI, POLG 0 0 1 0 1 2
FANCL 1 1 0 0 0 2
FAR1 1 0 1 0 0 2
FCSK 0 0 2 0 0 2
FEM1C 0 1 1 0 0 2
FERRY3 2 0 0 0 0 2
FGA 1 1 0 0 0 2
FGF10 1 1 0 0 0 2
FGF3 1 0 1 0 0 2
FHL1 1 0 1 0 0 2
FLNA, LOC107988032 0 0 2 0 0 2
FLVCR1 1 1 0 0 0 2
FOXC1 1 0 1 0 0 2
FOXF1 2 0 0 0 0 2
FOXL2 2 0 0 0 0 2
FOXN1 0 1 1 0 0 2
FOXP1, LOC126806714 0 2 0 0 0 2
FOXP3 0 1 1 0 0 2
FPGT-TNNI3K, TNNI3K 0 0 2 0 0 2
FREM2 1 0 1 0 0 2
FRMD5 0 1 1 0 0 2
FTO 0 0 2 0 0 2
FZD2 1 0 1 0 0 2
FZD4 2 0 0 0 0 2
FZD5 0 2 0 0 0 2
GABBR2 1 0 1 0 0 2
GALNT3 2 0 0 0 0 2
GAMT 2 0 0 0 0 2
GDAP1 1 0 1 0 0 2
GDF11 0 0 2 0 0 2
GEMIN4 0 1 1 0 0 2
GFER 0 1 1 0 0 2
GFI1B 0 1 1 0 0 2
GFM2 0 0 2 0 0 2
GJA3 0 2 0 0 0 2
GJA8 2 0 0 0 0 2
GJB6 1 0 1 0 0 2
GLRA1 2 0 0 0 0 2
GNE 1 1 0 0 0 2
GPAA1 2 0 0 0 0 2
GPC3 0 1 1 0 0 2
GPC4 0 0 2 0 0 2
GPHN, PALS1 0 0 2 0 0 2
GPSM2 2 0 0 0 0 2
GRHL2 1 0 1 0 0 2
GRIK2 1 0 1 0 0 2
GRIN2D 0 0 2 0 0 2
GRM1 1 0 0 1 0 2
GRM7 1 0 1 0 0 2
GUCY2D 2 0 0 0 0 2
GUSB 2 0 0 0 0 2
GUSB, LOC126860055 1 0 1 0 0 2
H4C3 1 1 0 0 0 2
HADH 0 2 0 0 0 2
HBB, LOC107133510, LOC110006319 2 0 0 0 0 2
HCN1 0 0 2 0 0 2
HDAC4 1 0 1 0 0 2
HGSNAT 0 0 2 0 0 2
HIRA 0 0 2 0 0 2
HJV 0 0 2 0 0 2
HMBS 1 0 1 0 0 2
HMGCR 0 0 2 0 0 2
HNRNPH2, RPL36A-HNRNPH2 2 0 0 0 0 2
HPDL 1 1 0 0 0 2
HPS6 0 0 2 0 0 2
HPSE2 1 1 0 0 0 2
HSD17B4, LOC129994460 2 0 0 0 0 2
HSF4 1 0 1 0 0 2
HSPB1 2 0 0 0 0 2
IDUA, SLC26A1 1 0 1 0 0 2
IFIH1 0 0 2 0 0 2
IFT122 0 0 2 0 0 2
IFT140, LOC126862260 1 0 1 0 0 2
IGSF1 2 0 0 0 0 2
IL2RG 2 0 0 0 0 2
ILDR1 0 0 2 0 0 2
IMPG2 1 0 1 0 0 2
INPP5E 1 1 0 0 0 2
INTS11 0 1 1 0 0 2
INVS 1 1 0 0 0 2
IQSEC1 0 0 2 0 0 2
IREB2 0 0 2 0 0 2
ITGA2B 1 1 0 0 0 2
JARID2 0 0 2 0 0 2
KCND2 0 0 2 0 0 2
KCNE1 1 1 0 0 0 2
KCNH5 1 0 1 0 0 2
KCNJ8 0 0 0 2 0 2
KCNK9 1 0 1 0 0 2
KCNQ1, KCNQ1OT1 1 1 0 0 0 2
KCNQ5 1 1 0 0 0 2
KDM2A 0 2 0 0 0 2
KDM6B, LOC121587574 1 1 0 0 0 2
KIAA0825 0 0 2 0 0 2
KIF4A 0 0 2 0 0 2
KIF7 1 0 1 0 0 2
KIRREL2, NPHS1 0 0 2 0 0 2
KLF7 1 1 0 0 0 2
KLHL20 1 0 1 0 0 2
KMT2A, TTC36 1 0 1 0 0 2
KRT14 2 0 0 0 0 2
KRT5 2 0 0 0 0 2
L2HGDH 1 0 1 0 0 2
LAMC2 1 0 1 0 0 2
LARS1 1 1 0 0 0 2
LEF1 0 2 0 0 0 2
LIFR 1 0 1 0 0 2
LIG3 0 1 1 0 0 2
LINS1 1 0 1 0 0 2
LMX1A 0 0 2 0 0 2
LOC100130357, LOC129995804, PHACTR1, TBC1D7-LOC100130357 1 0 1 0 0 2
LOC105371856, TANC2 1 0 0 1 0 2
LOC108021846, SOX9 1 0 1 0 0 2
LOC108281134, SOX3 0 0 1 1 0 2
LOC114827851, MYH6 0 0 2 0 0 2
LOC126806425, TTN 1 1 0 0 0 2
LOC126806426, TTN 0 2 0 0 0 2
LOC126806878, TBL1XR1 0 1 1 0 0 2
LOC126859827, TAB2 2 0 0 0 0 2
LOC126861365, TBCEL-TECTA, TECTA 0 0 2 0 0 2
LOC126861615, PAH 2 0 0 0 0 2
LOC126861897, MYH7 0 0 2 0 0 2
LOC129935183, TTN 0 2 0 0 0 2
LOC130002651, STXBP1 1 1 0 0 0 2
LOC130005368, RRAS2 2 0 0 0 0 2
LOX, SRFBP1 0 1 1 0 0 2
LRBA 0 0 2 0 0 2
LRRC37A2, NSF 0 2 0 0 0 2
MACF1 0 1 1 0 0 2
MADD 1 0 1 0 0 2
MAF 0 0 2 0 0 2
MAGED2 0 2 0 0 0 2
MAMLD1 0 0 2 0 0 2
MAN1B1 0 2 0 0 0 2
MAN2C1, NEIL1 0 1 1 0 0 2
MARK2 0 1 1 0 0 2
MBOAT7 2 0 0 0 0 2
MCM9 1 1 0 0 0 2
MED13 1 0 1 0 0 2
MED23 0 0 2 0 0 2
MEFV 2 0 0 0 0 2
MEN1 2 0 0 0 0 2
MID1 0 1 1 0 0 2
MLH1 0 1 1 0 0 2
MLYCD 2 0 0 0 0 2
MMAB 2 0 0 0 0 2
MME 0 0 2 0 0 2
MMP20 2 0 0 0 0 2
MNX1 1 0 1 0 0 2
MPDZ 1 0 1 0 0 2
MRPL49 2 0 0 0 0 2
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 2 0 0 0 0 2
MTO1 0 0 2 0 0 2
MTPAP 0 0 2 0 0 2
MTRR 1 0 1 0 0 2
MTTP 0 2 0 0 0 2
MUSK 0 0 2 0 0 2
MYCN, MYCNOS 1 0 1 0 0 2
MYL3 0 0 2 0 0 2
MYMK 1 1 0 0 0 2
MYO3A 0 0 1 1 0 2
MYO5B 2 0 0 0 0 2
MYO5B, SNHG22 1 1 0 0 0 2
NAA10 1 1 0 0 0 2
NARS2 1 0 1 0 0 2
NCAPH2, SCO2 0 0 2 0 0 2
NCR1, NLRP7 1 1 0 0 0 2
NDE1 0 0 2 0 0 2
NDUFA10 0 0 2 0 0 2
NDUFAF5 1 0 1 0 0 2
NDUFS4 2 0 0 0 0 2
NDUFS7 0 2 0 0 0 2
NDUFS8 0 2 0 0 0 2
NEFL 1 1 0 0 0 2
NEUROD2 0 0 2 0 0 2
NF2 2 0 0 0 0 2
NKAP 0 0 2 0 0 2
NKIRAS1, RPL15 0 1 1 0 0 2
NLGN3 0 1 1 0 0 2
NLRP3 0 1 1 0 0 2
NOC3L, PLCE1 0 0 2 0 0 2
NONO 1 1 0 0 0 2
NPHP1 2 0 0 0 0 2
NPR2 0 0 2 0 0 2
NSUN2 1 0 1 0 0 2
NTRK2 0 0 2 0 0 2
NUP188 0 0 2 0 0 2
NUP214 1 1 0 0 0 2
OPLAH 1 1 0 0 0 2
OSGEP 1 1 0 0 0 2
OTOGL 1 0 1 0 0 2
OTUD5 0 1 1 0 0 2
PACS1 1 0 1 0 0 2
PAFAH1B1 2 0 0 0 0 2
PDE10A 0 0 2 0 0 2
PDE4D 0 1 1 0 0 2
PDGFRB 1 0 1 0 0 2
PEX7 2 0 0 0 0 2
PFN1 0 1 0 1 0 2
PHF21A 2 0 0 0 0 2
PHKA1 0 1 1 0 0 2
PHKA2 1 0 1 0 0 2
PHKB 1 0 1 0 0 2
PHOX2B 2 0 0 0 0 2
PIDD1 0 1 1 0 0 2
PIGL 2 0 0 0 0 2
PITPNM3 0 0 1 1 0 2
PLCE1 0 0 2 0 0 2
PLS3 1 0 1 0 0 2
PNPLA2 0 0 2 0 0 2
POP1 0 0 2 0 0 2
PORCN 1 0 1 0 0 2
POU3F3 0 2 0 0 0 2
POU3F4 0 1 1 0 0 2
POU4F3, RBM27-POU4F3 0 0 2 0 0 2
PPP1CB 2 0 0 0 0 2
PPP1R12A 0 0 2 0 0 2
PPP2CA 1 0 1 0 0 2
PPP2R1A 0 1 1 0 0 2
PRDM5 1 1 0 0 0 2
PREPL, SLC3A1 1 1 0 0 0 2
PRKD1 0 0 2 0 0 2
PRKN 2 0 0 0 0 2
PRPF4 0 0 2 0 0 2
PRPH2 2 0 0 0 0 2
PRPS1 0 0 2 0 0 2
PRRX1 1 0 1 0 0 2
PSAT1 1 0 1 0 0 2
PSMC3 1 1 0 0 0 2
PSMC5 1 0 1 0 0 2
PSMD12 1 0 1 0 0 2
PSPH 0 1 1 0 0 2
PUM1 0 0 2 0 0 2
PYGL 0 0 1 1 0 2
RAC3 0 0 2 0 0 2
RAD21 1 0 1 0 0 2
RAG2 1 0 0 1 0 2
RALA 1 0 1 0 0 2
RANBP2 1 0 1 0 0 2
RBBP8 0 2 0 0 0 2
RBFOX2 0 2 0 0 0 2
RELN 0 0 1 1 0 2
RFX7 1 0 1 0 0 2
RIC1 0 0 2 0 0 2
RLIM 0 0 2 0 0 2
RNASEH2B 2 0 0 0 0 2
RNF13 0 0 2 0 0 2
RNF216 1 0 1 0 0 2
RORA 0 1 1 0 0 2
RPL3L 0 0 2 0 0 2
RPS19 2 0 0 0 0 2
RPS26 0 0 2 0 0 2
RPS7 1 1 0 0 0 2
RSPH4A 2 0 0 0 0 2
RUNX2 2 0 0 0 0 2
SALL4 1 0 1 0 0 2
SAMD9L 0 0 2 0 0 2
SAMHD1 0 1 1 0 0 2
SARM1, SLC46A1 2 0 0 0 0 2
SASH3 1 0 1 0 0 2
SATB1 1 0 1 0 0 2
SBF1 0 2 0 0 0 2
SCN11A 0 0 1 1 0 2
SCN4A 1 1 0 0 0 2
SDCCAG8 0 0 2 0 0 2
SEC61A1 0 1 1 0 0 2
SERPINC1 0 2 0 0 0 2
SFTPC 1 0 1 0 0 2
SGPL1 1 0 0 0 1 2
SH2B3 2 0 0 0 0 2
SIGMAR1 1 1 0 0 0 2
SIM1 2 0 0 0 0 2
SIN3B 0 0 2 0 0 2
SLC17A5 1 1 0 0 0 2
SLC22A5 1 0 1 0 0 2
SLC27A4 1 1 0 0 0 2
SLC29A3 1 1 0 0 0 2
SLC37A4 2 0 0 0 0 2
SLC39A4 1 0 1 0 0 2
SLC4A3 0 0 2 0 0 2
SLC5A6 1 1 0 0 0 2
SLC6A9 0 0 2 0 0 2
SLC9A6 0 0 2 0 0 2
SLX4 0 0 2 0 0 2
SMAD2 1 0 1 0 0 2
SMARCD1 0 0 1 1 0 2
SMPD1 1 1 0 0 0 2
SMS 0 1 1 0 0 2
SNCA 1 0 1 0 0 2
SORD 1 1 0 0 0 2
SOX11 0 1 1 0 0 2
SPATA7 2 0 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 0 2 0 0 2
SPR 1 1 0 0 0 2
SSR4 0 0 2 0 0 2
STAT1 1 1 0 0 0 2
STEEP1 0 0 2 0 0 2
STUB1 1 1 0 0 0 2
SUCLA2 0 0 2 0 0 2
SURF1 1 1 0 0 0 2
SYP 0 1 1 0 0 2
TBC1D8B 1 0 1 0 0 2
TBK1 1 0 1 0 0 2
TBX18 0 0 2 0 0 2
TCF3 1 0 1 0 0 2
TCTN1 1 1 0 0 0 2
TECPR2 2 0 0 0 0 2
TFAP2A 1 0 1 0 0 2
TFAP2B 0 1 1 0 0 2
TFE3 2 0 0 0 0 2
TH 2 0 0 0 0 2
THAP1 0 1 1 0 0 2
THOC2 1 0 1 0 0 2
TJP2 2 0 0 0 0 2
TK2 2 0 0 0 0 2
TLL1 0 0 2 0 0 2
TMC1 1 0 1 0 0 2
TMEM106B 1 0 1 0 0 2
TMEM138 0 1 1 0 0 2
TMEM237 2 0 0 0 0 2
TMEM240 1 0 1 0 0 2
TNR 0 0 2 0 0 2
TOE1 1 0 1 0 0 2
TONSL 1 0 1 0 0 2
TP53RK 0 0 2 0 0 2
TP63 1 1 0 0 0 2
TRAPPC11 0 0 2 0 0 2
TRIP13 0 0 2 0 0 2
TRNT1 1 1 0 0 0 2
TRPM1 2 0 0 0 0 2
TTC21B 1 0 1 0 0 2
TUBB2A 2 0 0 0 0 2
TYMP 0 1 1 0 0 2
UBE2A 1 0 1 0 0 2
UBE3B 0 0 2 0 0 2
UBQLN2 0 0 2 0 0 2
UGDH 1 0 1 0 0 2
UMPS 1 1 0 0 0 2
UNC13A 0 1 1 0 0 2
UPB1 2 0 0 0 0 2
UROS 2 0 0 0 0 2
USP27X 0 0 2 0 0 2
USP53 0 0 2 0 0 2
VCAN 0 1 1 0 0 2
VCP 0 0 2 0 0 2
VIPAS39 0 1 0 1 0 2
VMA22 1 0 1 0 0 2
VPS11 0 0 2 0 0 2
VPS13A 2 0 0 0 0 2
VPS13C 0 0 2 0 0 2
WARS2 0 0 2 0 0 2
WASF1 2 0 0 0 0 2
WDPCP 0 1 1 0 0 2
WDR19 0 1 1 0 0 2
WDR35 0 0 2 0 0 2
WDR37 1 0 1 0 0 2
WNK1 1 1 0 0 0 2
YARS2 0 0 2 0 0 2
ZBTB7A 2 0 0 0 0 2
ZDHHC9 0 0 1 0 1 2
ZFX 0 0 2 0 0 2
ZIC2 0 0 2 0 0 2
ZMPSTE24 2 0 0 0 0 2
ZSWIM6 0 0 2 0 0 2
AAGAB 0 0 1 0 0 1
AAGAB, LOC130057363 1 0 0 0 0 1
AARS1 0 0 1 0 0 1
ABCA1 0 0 1 0 0 1
ABCA12, SNHG31 1 0 0 0 0 1
ABCA2 0 0 1 0 0 1
ABCA4, LOC126805794 0 0 1 0 0 1
ABCB6 0 0 1 0 0 1
ABCB7 0 1 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NTAN1, PDXDC1, PLA2G10, RRN3 0 0 1 0 0 1
ABCD1, BCAP31, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, PLXNB3, SRPK3 1 0 0 0 0 1
ABCG5, DYNC2LI1 0 0 1 0 0 1
ABCG8 1 0 0 0 0 1
ABHD14A-ACY1, ACY1 0 0 1 0 0 1
ABI2 0 0 1 0 0 1
ABL1, LOC107980440 0 1 0 0 0 1
ACAD9, CFAP92 1 0 0 0 0 1
ACADVL, DLG4 0 1 0 0 0 1
ACAN 1 0 0 0 0 1
ACAT1 1 0 0 0 0 1
ACO2, POLR3H 0 1 0 0 0 1
ACSBG1, IDH3A 0 0 1 0 0 1
ACSM3, THUMPD1 1 0 0 0 0 1
ADA 1 0 0 0 0 1
ADAMTS10 0 0 0 1 0 1
ADAMTS2 0 0 1 0 0 1
ADAT3, SCAMP4 0 0 1 0 0 1
ADD1 0 0 1 0 0 1
ADGRG6 0 1 0 0 0 1
ADGRL1 0 0 1 0 0 1
ADIPOR1 0 0 1 0 0 1
ADSS1 1 0 0 0 0 1
AFF3 0 0 1 0 0 1
AFG2B 1 0 0 0 0 1
AGRN 0 0 1 0 0 1
AIPL1 1 0 0 0 0 1
AK2, LOC129930068 1 0 0 0 0 1
AKAP9 0 0 1 0 0 1
AKT1 0 0 1 0 0 1
AKT3 1 0 0 0 0 1
ALAS2 0 1 0 0 0 1
ALAS2, LOC108663984 0 0 1 0 0 1
ALAS2, LOC108663984, PAGE2B 1 0 0 0 0 1
ALDH3A2 1 0 0 0 0 1
ALDH6A1, BBOF1 0 0 1 0 0 1
ALG1, EEF2KMT 1 0 0 0 0 1
ALG1, LOC130058383 1 0 0 0 0 1
ALG1, LOC130058384 1 0 0 0 0 1
ALG2 0 0 1 0 0 1
ALKBH8 0 0 1 0 0 1
ALPK1 1 0 0 0 0 1
ALPK1, ANK2, AP1AR, AP1AR-DT, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC112935973, LOC112935974, LOC112935975, LOC123477806, LOC123477807, LOC123477808, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC132089000, LOC132089001, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, NEUROG2, PITX2, TIFA, ZGRF1 0 1 0 0 0 1
ALPK3, LOC111718493 0 0 1 0 0 1
AMER1 1 0 0 0 0 1
AMPD2 0 0 1 0 0 1
AMPD2, LOC126805822 1 0 0 0 0 1
AMT 0 1 0 0 0 1
AMT, NICN1 1 0 0 0 0 1
ANK1 1 0 0 0 0 1
ANKLE2 0 1 0 0 0 1
ANKRD1 0 0 1 0 0 1
ANO3 0 0 1 0 0 1
AOPEP, FANCC 0 1 0 0 0 1
AP2M1 0 0 1 0 0 1
AP3B2, CPEB1 0 0 1 0 0 1
APOA5 1 0 0 0 0 1
APOE 0 0 0 1 0 1
APTX 0 1 0 0 0 1
AQP2 1 0 0 0 0 1
ARF1, LOC126806039 1 0 0 0 0 1
ARFGEF3 0 0 1 0 0 1
ARHGAP29 0 0 1 0 0 1
ARHGEF18 0 0 1 0 0 1
ARL6 1 0 0 0 0 1
ARV1 1 0 0 0 0 1
ASAH1 0 0 1 0 0 1
ASL 1 0 0 0 0 1
ASNS, CZ1P-ASNS 1 0 0 0 0 1
ATG4D 0 0 1 0 0 1
ATL3, LNCROPM 0 0 1 0 0 1
ATP11A 0 0 1 0 0 1
ATP5F1A 0 1 0 0 0 1
ATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 1 0 0 0 1
ATP6V0A2 0 0 1 0 0 1
ATP6V0A4 1 0 0 0 0 1
ATP8A2 0 0 1 0 0 1
ATXN2L 0 0 1 0 0 1
AUH 1 0 0 0 0 1
AVP 1 0 0 0 0 1
AXIN2 0 0 1 0 0 1
B3GALNT2 0 0 1 0 0 1
B3GALNT2, TBCE 0 0 1 0 0 1
B3GLCT 1 0 0 0 0 1
B4GALT7, LOC129995400 1 0 0 0 0 1
B9D2 0 1 0 0 0 1
BBS1 1 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 1
BCAP31 0 0 1 0 0 1
BCOR, LOC126863239 0 0 0 1 0 1
BLOC1S1-RDH5, CD63, RDH5 0 0 1 0 0 1
BMAL1 0 0 1 0 0 1
BMPR1A 0 0 0 1 0 1
BMPR1B 0 1 0 0 0 1
BNC2 0 0 1 0 0 1
BOLA3 1 0 0 0 0 1
BPHL, TUBB2A 1 0 0 0 0 1
BPTF, LOC130061496 0 0 0 0 1 1
BRF1 0 0 1 0 0 1
BRRIAR, ITPR1 1 0 0 0 0 1
BSND 0 1 0 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
C10orf71 0 1 0 0 0 1
C14orf39, SIX6 0 0 1 0 0 1
C1GALT1C1 0 1 0 0 0 1
C1QA 0 0 1 0 0 1
C5 1 0 0 0 0 1
C6 1 0 0 0 0 1
C7 1 0 0 0 0 1
C8B 1 0 0 0 0 1
C9 1 0 0 0 0 1
CA5A 1 0 0 0 0 1
CABP4 1 0 0 0 0 1
CACNA1A, LOC126862866 0 0 1 0 0 1
CACNA2D1 0 0 1 0 0 1
CACNA2D2 1 0 0 0 0 1
CALM1 1 0 0 0 0 1
CALM2 0 0 1 0 0 1
CALR3 0 0 1 0 0 1
CAMK2G 0 0 1 0 0 1
CANT1 1 0 0 0 0 1
CAP2 0 1 0 0 0 1
CAPN1 0 0 1 0 0 1
CAPN15 0 1 0 0 0 1
CAPN3, LOC126862115 0 0 1 0 0 1
CAPRIN1 1 0 0 0 0 1
CAPZA2 0 0 1 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CARD9 0 0 1 0 0 1
CASD1, SGCE 1 0 0 0 0 1
CASQ1 0 0 1 0 0 1
CAST, LOC101929710, PCSK1 0 0 1 0 0 1
CAV3, OXTR 0 0 1 0 0 1
CBX1 0 0 1 0 0 1
CC2D1A 1 0 0 0 0 1
CCBE1 0 1 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 1
CCDC50 0 0 1 0 0 1
CCNF 0 0 1 0 0 1
CCNF, TBC1D24 0 1 0 0 0 1
CD40LG 1 0 0 0 0 1
CD46 1 0 0 0 0 1
CDC42 1 0 0 0 0 1
CDC73 0 1 0 0 0 1
CDK13, LOC129998292 0 1 0 0 0 1
CDK8, LOC130009416 0 0 1 0 0 1
CDKL5, RS1 1 0 0 0 0 1
CDKN1C 1 0 0 0 0 1
CEL 0 0 1 0 0 1
CELF2 0 1 0 0 0 1
CENPE 0 0 1 0 0 1
CEP120 1 0 0 0 0 1
CEP135 1 0 0 0 0 1
CEP290, RLIG1 1 0 0 0 0 1
CEP41 0 0 1 0 0 1
CEP83 0 0 1 0 0 1
CEP85L 0 1 0 0 0 1
CERS1, GDF1, UPF1 1 0 0 0 0 1
CFAP53 0 0 1 0 0 1
CFAP96, UFSP2 1 0 0 0 0 1
CFD, ELANE 1 0 0 0 0 1
CFH, CFHR1, CFHR3, LOC126805964, LOC129388721, LOC129932153 1 0 0 0 0 1
CFHR1 0 0 1 0 0 1
CHAMP1 0 0 1 0 0 1
CHCHD10 0 0 1 0 0 1
CHD7, LOC126860403 1 0 0 0 0 1
CHD8, LOC126861888 0 0 1 0 0 1
CHEK2 1 0 0 0 0 1
CHMP1A 0 1 0 0 0 1
CHMP2B 0 0 1 0 0 1
CHRNA4 1 0 0 0 0 1
CHRNB1 0 1 0 0 0 1
CHST3 0 1 0 0 0 1
CHST6 0 1 0 0 0 1
CITED2 0 0 1 0 0 1
CLCN3 0 0 0 1 0 1
CLCN7 0 1 0 0 0 1
CLDN14 1 0 0 0 0 1
CLDN19 0 1 0 0 0 1
CLPB 0 0 1 0 0 1
CLPB, LOC126861258 0 0 1 0 0 1
CLPB, LOC130006336 0 0 1 0 0 1
CLTC, LOC125177523 0 0 1 0 0 1
CNGB1 0 1 0 0 0 1
CNKSR1 0 0 1 0 0 1
CNNM2, NT5C2 0 1 0 0 0 1
CNOT1, SETD6 1 0 0 0 0 1
CNPY3, CNPY3-GNMT 0 0 1 0 0 1
CNPY3-GNMT, GNMT 0 0 1 0 0 1
COG6 0 0 1 0 0 1
COL12A1, LOC129996730 0 0 1 0 0 1
COL18A1 1 0 0 0 0 1
COL27A1 0 1 0 0 0 1
COL3A1, LOC126806446 1 0 0 0 0 1
COL4A6 0 0 1 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 1
COL6A2 1 0 0 0 0 1
COPA 0 0 1 0 0 1
COX11 0 0 1 0 0 1
COX20 1 0 0 0 0 1
COX20, LOC129932912 1 0 0 0 0 1
COX7B 0 0 1 0 0 1
COXFA4 0 1 0 0 0 1
CP 0 0 1 0 0 1
CP, HPS3 1 0 0 0 0 1
CPT1C 0 0 1 0 0 1
CRMP1 0 0 1 0 0 1
CRPPA, LOC129998005 1 0 0 0 0 1
CRY1 0 0 1 0 0 1
CRYAB 0 0 1 0 0 1
CRYBB2 0 0 1 0 0 1
CRYGS 0 0 1 0 0 1
CRYL1, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 1
CRYM, LOC130058620 0 0 1 0 0 1
CSGALNACT1 0 0 1 0 0 1
CSNK1G1 0 0 1 0 0 1
CSPP1 1 0 0 0 0 1
CSTB 1 0 0 0 0 1
CTDP1 0 0 1 0 0 1
CTNNA2 0 0 1 0 0 1
CTNS 0 1 0 0 0 1
CTNS, LOC126862464, LOC130059979, LOC130059980, LOC130059981, SHPK, TRPV1 1 0 0 0 0 1
CTRC 1 0 0 0 0 1
CTSD, LOC130005119 0 0 1 0 0 1
CYFIP2 1 0 0 0 0 1
CYLD 0 0 1 0 0 1
CYP11A1 0 0 1 0 0 1
CYP11B1 0 0 0 0 1 1
CYP11B2, LOC106799834 0 0 1 0 0 1
CYP17A1 0 1 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 0 1 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 1
CYP24A1 1 0 0 0 0 1
CYP4V2 0 0 1 0 0 1
CYS1, LOC129933088 0 0 1 0 0 1
D2HGDH 0 1 0 0 0 1
D2HGDH, LOC129936031 1 0 0 0 0 1
DCAF17 1 0 0 0 0 1
DDB1 0 0 1 0 0 1
DDHD1 0 0 1 0 0 1
DDHD2 0 1 0 0 0 1
DDR2 1 0 0 0 0 1
DDX17 0 1 0 0 0 1
DDX41 0 0 1 0 0 1
DHH 0 0 1 0 0 1
DHX16 0 0 1 0 0 1
DICER1 1 0 0 0 0 1
DIP2B 0 0 1 0 0 1
DLAT, PIH1D2 0 0 1 0 0 1
DLD 1 0 0 0 0 1
DLG4, LOC126862479 0 1 0 0 0 1
DLL4 0 1 0 0 0 1
DMD, LOC129391296 1 0 0 0 0 1
DMP1 1 0 0 0 0 1
DMP1, DSPP 0 0 1 0 0 1
DMXL2 0 0 1 0 0 1
DNAH11, LOC126859962 1 0 0 0 0 1
DNAJB13 1 0 0 0 0 1
DNAJB2 0 1 0 0 0 1
DNAJC5 0 0 1 0 0 1
DNMBP 0 0 1 0 0 1
DNMT1, LOC126862853 0 0 1 0 0 1
DNMT3A, LOC129933288 0 0 1 0 0 1
DNMT3A, LOC129933290 0 0 1 0 0 1
DOCK4 0 0 1 0 0 1
DOCK6 1 0 0 0 0 1
DOHH 0 0 1 0 0 1
DPM1 1 0 0 0 0 1
DRC2 0 0 1 0 0 1
DSC2, DSG2 0 0 1 0 0 1
DSCAM 0 0 1 0 0 1
DSG1 0 0 1 0 0 1
DSG1, DSG4 0 0 1 0 0 1
DSG2, LOC130062340 0 0 1 0 0 1
DST 0 0 1 0 0 1
DUOXA2 1 0 0 0 0 1
DVL3 0 0 1 0 0 1
DYNC1H1, LOC130056502 0 1 0 0 0 1
DYNC2I1, ESYT2, LINC00689, LOC108254663, LOC123956285, LOC126860262, LOC129999757, LOC129999758, LOC129999759, LOC129999760, LOC129999761, LOC129999762, LOC129999763, LOC129999764, LOC129999765, LOC129999766, VIPR2 0 0 1 0 0 1
DYNC2I2 1 0 0 0 0 1
DYNC2I2, LOC126860772 1 0 0 0 0 1
EDAR, RANBP2 0 1 0 0 0 1
EFEMP1 0 1 0 0 0 1
EFL1 0 0 1 0 0 1
EHBP1L1 0 1 0 0 0 1
EIF2B1 0 0 1 0 0 1
EIF2B3 0 0 1 0 0 1
EIF2B4, GTF3C2 1 0 0 0 0 1
EIF3F 1 0 0 0 0 1
EIF4A2 0 0 1 0 0 1
ELOVL1 0 0 1 0 0 1
ELOVL4 0 1 0 0 0 1
ELOVL5 0 0 1 0 0 1
ELP1 1 0 0 0 0 1
EME2, MRPS34 1 0 0 0 0 1
EMILIN1 0 0 1 0 0 1
EML1 0 0 1 0 0 1
EML1, LOC126862047 0 0 1 0 0 1
ENAM 0 0 1 0 0 1
EPB41L1 0 0 1 0 0 1
EPHX1 0 1 0 0 0 1
ERBB4 0 0 1 0 0 1
ERCC6, PGBD3 0 0 1 0 0 1
ERCC8 0 1 0 0 0 1
ERLIN2 0 0 1 0 0 1
ESPN 0 0 1 0 0 1
ESRRB 0 1 0 0 0 1
ETFB 0 1 0 0 0 1
ETV6, LOC126861452 0 0 1 0 0 1
EXOC7 0 0 1 0 0 1
EXOSC9 0 0 1 0 0 1
EXPH5 1 0 0 0 0 1
EXT2 1 0 0 0 0 1
EXT2, LOC126861201 1 0 0 0 0 1
EYA4 0 0 1 0 0 1
EYA4, LOC126859796, TARID 0 0 1 0 0 1
F13B 1 0 0 0 0 1
F9 0 0 1 0 0 1
FAAP100 0 1 0 0 0 1
FAH 1 0 0 0 0 1
FANCA, ZNF276 0 0 1 0 0 1
FANCB 0 0 0 1 0 1
FANCB, GLRA2 0 0 1 0 0 1
FANCG 0 0 1 0 0 1
FAS 1 0 0 0 0 1
FASTKD2 1 0 0 0 0 1
FAT2 0 0 1 0 0 1
FBLN1 0 0 1 0 0 1
FBN1, LOC113939944 1 0 0 0 0 1
FBRSL1, GALNT9, LOC101928416, LOC110599568, LOC126861697, LOC126861698, LOC126861699, LOC130009250, LOC130009251, LOC130009252, LOC130009253, LOC130009254, LOC130009255, LOC130009256, LOC130009257, LOC130009258, MUC8 0 0 1 0 0 1
FBXO28 1 0 0 0 0 1
FBXO31 0 1 0 0 0 1
FDFT1, LOC129999907 0 0 1 0 0 1
FECH, LOC130062560 1 0 0 0 0 1
FEZF2 0 1 0 0 0 1
FGF14 0 0 1 0 0 1
FGF3, LOC109115964 0 0 1 0 0 1
FGF9 0 1 0 0 0 1
FGG 0 0 1 0 0 1
FHOD3, LOC130062385 0 0 1 0 0 1
FKBP10 0 0 1 0 0 1
FLI1 0 0 1 0 0 1
FLII 0 1 0 0 0 1
FLVCR2 1 0 0 0 0 1
FMO3, LOC126805916 1 0 0 0 0 1
FMR1 1 0 0 0 0 1
FN1, LOC122861289 0 0 1 0 0 1
FN1, LOC126806496 0 0 1 0 0 1
FN1, LOC126806498 0 0 1 0 0 1
FOLR1 0 0 1 0 0 1
FOXC1, LOC129995601 0 1 0 0 0 1
FOXE1 0 0 1 0 0 1
FOXE3, LINC01389 1 0 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 1 0 0 0 0 1
FREM1 0 1 0 0 0 1
FRMPD4 0 0 1 0 0 1
FRRS1L 1 0 0 0 0 1
FRYL 0 0 1 0 0 1
FSCN2 0 0 1 0 0 1
FSHR 0 0 0 1 0 1
FTCD 0 0 1 0 0 1
FTL 0 0 1 0 0 1
FXN 0 0 1 0 0 1
FZR1 0 0 1 0 0 1
G6PD, IKBKG 1 0 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 0 1 0 1
GABBR1 0 1 0 0 0 1
GABRA3 0 0 1 0 0 1
GABRA5 1 0 0 0 0 1
GABRB1 0 0 1 0 0 1
GAREM2, HADHA 1 0 0 0 0 1
GAS2L2 0 0 1 0 0 1
GBF1 0 0 1 0 0 1
GBF1, PITX3 1 0 0 0 0 1
GDF5 1 0 0 0 0 1
GDF6 0 0 1 0 0 1
GDF9 0 0 1 0 0 1
GFAP, LOC130060994 0 1 0 0 0 1
GFER, LOC130058203 0 0 1 0 0 1
GFI1 0 0 1 0 0 1
GHR 0 0 1 0 0 1
GJA1 0 1 0 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
GLB1, LOC129936434, TMPPE 1 0 0 0 0 1
GLRX5 0 0 1 0 0 1
GLS 0 0 1 0 0 1
GM2A 1 0 0 0 0 1
GNAL 0 0 1 0 0 1
GNAT2 1 0 0 0 0 1
GNB2 0 0 1 0 0 1
GNB4 0 0 1 0 0 1
GNB5 0 0 1 0 0 1
GNPTAB 0 0 1 0 0 1
GNS 1 0 0 0 0 1
GP1BB, SEPT5-GP1BB 1 0 0 0 0 1
GPC6 0 0 1 0 0 1
GPD1L 0 0 1 0 0 1
GPR179 1 0 0 0 0 1
GPR68 0 0 1 0 0 1
GPT2, LOC130058930 0 0 1 0 0 1
GRHL3 0 0 1 0 0 1
GRXCR1 1 0 0 0 0 1
GSC 0 0 1 0 0 1
GTF3C3 0 0 1 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 0 1 0 0 1
GUK1, LOC129932713 0 1 0 0 0 1
GYS2, LOC126861480 0 0 1 0 0 1
H1-4 0 0 1 0 0 1
H3-3A 1 0 0 0 0 1
H4C5, LOC129996027 0 0 1 0 0 1
HAFML, VEGFC 0 0 0 1 0 1
HARS1 0 0 1 0 0 1
HARS2 0 0 1 0 0 1
HAX1 1 0 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 1
HCN4, LOC105370890, LOC126862173 0 0 1 0 0 1
HEPACAM 1 0 0 0 0 1
HIKESHI 0 0 1 0 0 1
HMGA2 0 1 0 0 0 1
HMGB1 0 1 0 0 0 1
HNRNPD 0 1 0 0 0 1
HNRNPH1, LOC128966623 0 1 0 0 0 1
HOXA13, LOC107126288 0 1 0 0 0 1
HPD 0 0 1 0 0 1
HPRT1 1 0 0 0 0 1
HPRT1, LOC107032760 0 1 0 0 0 1
HPS3 0 1 0 0 0 1
HPS5 0 0 1 0 0 1
HPS5, LOC130005404 0 0 0 1 0 1
HS6ST2 0 0 1 0 0 1
HSD17B10 1 0 0 0 0 1
HSD3B2 1 0 0 0 0 1
HSPB8 1 0 0 0 0 1
HSPG2, LDLRAD2 0 0 1 0 0 1
HYDIN 0 0 0 1 0 1
HYOU1 0 0 1 0 0 1
IDH2 1 0 0 0 0 1
IDH3A 0 1 0 0 0 1
IDS 1 0 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFT172, KRTCAP3 1 0 0 0 0 1
IFT80, TRIM59-IFT80 1 0 0 0 0 1
IGFALS 0 0 1 0 0 1
IHH 0 1 0 0 0 1
IKBKG 0 0 0 1 0 1
IL11RA 1 0 0 0 0 1
IL2RG, LOC126863274 0 0 1 0 0 1
IMPDH1 0 0 1 0 0 1
INSL3 0 0 1 0 0 1
INSR 0 0 1 0 0 1
INTU 1 0 0 0 0 1
IRF2BPL, LOC107984638 0 0 1 0 0 1
ITPR3 0 0 1 0 0 1
KAT8 0 0 1 0 0 1
KATNB1 1 0 0 0 0 1
KBTBD13 0 0 1 0 0 1
KCNA3 0 1 0 0 0 1
KCNA5 0 0 1 0 0 1
KCNC3 1 0 0 0 0 1
KCNJ5 0 0 1 0 0 1
KCNK18 0 0 1 0 0 1
KCNN2, LOC101927078 0 1 0 0 0 1
KCNN4 1 0 0 0 0 1
KCNV2 1 0 0 0 0 1
KCTD1 0 1 0 0 0 1
KDM2B 0 0 1 0 0 1
KDM2B, KDM2B-DT 0 0 1 0 0 1
KDM3B 0 0 1 0 0 1
KDM5A 0 1 0 0 0 1
KERA 0 1 0 0 0 1
KIF21A 1 0 0 0 0 1
KLF1, LOC117125591 1 0 0 0 0 1
KLF9-DT, TRPM3 0 0 1 0 0 1
KRT16 1 0 0 0 0 1
KRT17 1 0 0 0 0 1
KRT2 1 0 0 0 0 1
KRT5, LOC126861525 1 0 0 0 0 1
KRT6A 0 1 0 0 0 1
KRT85 0 0 0 1 0 1
LALTOP, TPO 1 0 0 0 0 1
LAMA3 1 0 0 0 0 1
LAMA3, LOC126862707 1 0 0 0 0 1
LAMB2 0 0 1 0 0 1
LAMB2, LOC129936738 1 0 0 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 1
LBR 0 1 0 0 0 1
LEMD3 1 0 0 0 0 1
LEPR 0 1 0 0 0 1
LFNG 0 1 0 0 0 1
LHB 0 0 0 1 0 1
LHFPL5 1 0 0 0 0 1
LHX2 0 0 1 0 0 1
LIG1 0 0 1 0 0 1
LIG4 1 0 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LMBR1, ZRS 0 1 0 0 0 1
LMNA, LOC129931597 1 0 0 0 0 1
LMNB1 0 0 1 0 0 1
LMOD3 1 0 0 0 0 1
LMOD3, LOC126806710 0 0 1 0 0 1
LOC100130357, PHACTR1, TBC1D7-LOC100130357 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 0 1
LOC107548112, REN 1 0 0 0 0 1
LOC110806263, TERT 0 0 1 0 0 1
LOC112486209, LOC132090435, WWOX 1 0 0 0 0 1
LOC112806077, LOC129935569, MARCHF4, SMARCAL1 0 1 0 0 0 1
LOC113788277, PLPBP 0 0 1 0 0 1
LOC114803470, SCN8A 0 1 0 0 0 1
LOC114827827, NPPA 0 0 1 0 0 1
LOC117038795, RNASEH2A 1 0 0 0 0 1
LOC121627832, TCF4 1 0 0 0 0 1
LOC121740638, TFAP2A 1 0 0 0 0 1
LOC121815974, OAT 1 0 0 0 0 1
LOC121852963, RNF125 0 0 0 1 0 1
LOC122152296, USH2A 1 0 0 0 0 1
LOC125177414, MYH10 0 1 0 0 0 1
LOC125371495, NDUFA13 0 1 0 0 0 1
LOC125446261, MLC1 0 1 0 0 0 1
LOC126653398, TSPEAR 0 0 1 0 0 1
LOC126806211, TTC7A 0 0 1 0 0 1
LOC126806253, STAMBP 1 0 0 0 0 1
LOC126806306, NPHP1 1 0 0 0 0 1
LOC126806421, TTN 0 1 0 0 0 1
LOC126806422, TTN 0 0 1 0 0 1
LOC126806427, TTN 0 1 0 0 0 1
LOC126806428, TTN 0 0 1 0 0 1
LOC126806433, TTN 0 1 0 0 0 1
LOC126806462, SATB2 0 1 0 0 0 1
LOC126806608, WNT7A 0 0 1 0 0 1
LOC126806798, ZNF148 1 0 0 0 0 1
LOC126807011, RBPJ 0 0 1 0 0 1
LOC126807127, NFKB1 1 0 0 0 0 1
LOC126807619, NSD1 0 1 0 0 0 1
LOC126859646, VARS2 1 0 0 0 0 1
LOC126859871, PRKN 0 0 1 0 0 1
LOC126860075, POR 1 0 0 0 0 1
LOC126860498, WASHC5 0 0 1 0 0 1
LOC126860802, ZMYND11 0 0 1 0 0 1
LOC126861106, TUBGCP2 0 1 0 0 0 1
LOC126861242, NDUFV1 1 0 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 1
LOC126861443, MFAP5 0 0 1 0 0 1
LOC126862278, RBFOX1 1 0 0 0 0 1
LOC126862481, POLR2A 0 1 0 0 0 1
LOC126862603, SRSF1 0 1 0 0 0 1
LOC126862696, PIEZO2 0 0 1 0 0 1
LOC126862757, TCF4 1 0 0 0 0 1
LOC126862902, RYR1 0 0 1 0 0 1
LOC126862987, SEC23B 1 0 0 0 0 1
LOC126863160, NAGA 0 0 1 0 0 1
LOC126863253, UBA1 1 0 0 0 0 1
LOC129934069, SPR 0 0 1 0 0 1
LOC129935594, PNKD 1 0 0 0 0 1
LOC129936736, QARS1 0 0 0 1 0 1
LOC129992876, SLC39A8 0 0 1 0 0 1
LOC129994826, PURA 1 0 0 0 0 1
LOC129995449, SQSTM1 0 0 1 0 0 1
LOC129996910, QRSL1, RTN4IP1 0 0 1 0 0 1
LOC129998021, TWIST1 0 0 1 0 0 1
LOC129998833, SLC25A13 0 0 1 0 0 1
LOC129999056, PMPCB 0 0 1 0 0 1
LOC129999660, PRKAG2 0 0 1 0 0 1
LOC129999735, MNX1 1 0 0 0 0 1
LOC130000962, OXR1 0 0 1 0 0 1
LOC130002899, SURF1 0 0 1 0 0 1
LOC130004614, SUFU 1 0 0 0 0 1
LOC130005097, PNPLA2 0 1 0 0 0 1
LOC130005193, SMPD1 1 0 0 0 0 1
LOC130007872, SMARCD1 0 0 1 0 0 1
LOC130057222, TPM1 0 0 1 0 0 1
LOC130057309, MTFMT 0 1 0 0 0 1
LOC130057889, MESP1 0 0 1 0 0 1
LOC130058173, MAPK8IP3 0 1 0 0 0 1
LOC130059555, MLYCD 1 0 0 0 0 1
LOC130064279, SDHAF1 1 0 0 0 0 1
LOC130064903, PPFIA3 0 0 1 0 0 1
LOC130065488, NAA20 0 0 1 0 0 1
LOC130067862, SCO2, TYMP 0 0 1 0 0 1
LOC130068202, RP2 0 0 1 0 0 1
LOC130068796, MTM1 1 0 0 0 0 1
LOC340512, ZNF462 0 0 1 0 0 1
LONP1 0 0 1 0 0 1
LORICRIN 1 0 0 0 0 1
LPAR6, RB1 0 0 1 0 0 1
LRIT3 0 0 1 0 0 1
LRP6 1 0 0 0 0 1
LRRC51, LRTOMT 0 0 1 0 0 1
LRRC7 0 0 1 0 0 1
LRTOMT, TOMT 1 0 0 0 0 1
LSR 0 1 0 0 0 1
LTBP4 0 0 1 0 0 1
MAGI2 0 0 1 0 0 1
MALT1 0 1 0 0 0 1
MAOA 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAP2K2 0 0 1 0 0 1
MAP3K7 0 1 0 0 0 1
MAP4K4 0 0 1 0 0 1
MAPK1 0 0 1 0 0 1
MAPKAPK5 0 0 1 0 0 1
MAPKBP1 0 0 1 0 0 1
MARS1 0 0 1 0 0 1
MARS2 0 0 1 0 0 1
MARVELD2 1 0 0 0 0 1
MAST4 0 0 1 0 0 1
MCCC1 0 0 1 0 0 1
MCCC2 1 0 0 0 0 1
MDH2 1 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 1
MECR 1 0 0 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MED16 0 0 1 0 0 1
MED25 0 0 1 0 0 1
METTL5 0 1 0 0 0 1
MIB1 0 0 1 0 0 1
MICU1 1 0 0 0 0 1
MILR1, POLG2 0 0 1 0 0 1
MINPP1 1 0 0 0 0 1
MIP 1 0 0 0 0 1
MIR1225, PKD1, TSC2 0 1 0 0 0 1
MIR3911, STXBP1 0 0 0 1 0 1
MIR5004, SYNGAP1 0 1 0 0 0 1
MIR9718, SIX1 0 1 0 0 0 1
MKKS 1 0 0 0 0 1
MKRN3 0 0 1 0 0 1
MLC1 0 0 1 0 0 1
MMP13 1 0 0 0 0 1
MPEG1 0 0 1 0 0 1
MPV17 1 0 0 0 0 1
MRAS 1 0 0 0 0 1
MRPS22 0 1 0 0 0 1
MSH6 1 0 0 0 0 1
MSX2 0 0 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 1
MT-ATP6, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TE, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 1
MT-TK 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 1
MT-TL2 0 0 1 0 0 1
MTFMT 0 0 1 0 0 1
MTR 0 0 1 0 0 1
MTRFR 0 0 1 0 0 1
MTSS2 1 0 0 0 0 1
MVD 1 0 0 0 0 1
MYBPC1 0 0 1 0 0 1
MYCBP2 0 0 1 0 0 1
MYLK2 0 0 0 1 0 1
MYO9A 0 0 1 0 0 1
MYOC 1 0 0 0 0 1
MYOCD 0 1 0 0 0 1
MYOT, PKD2L2-DT 0 0 1 0 0 1
MYPN 0 0 1 0 0 1
MYRF 1 0 0 0 0 1
MYSM1 1 0 0 0 0 1
NADSYN1 0 1 0 0 0 1
NAGA 1 0 0 0 0 1
NBN 1 0 0 0 0 1
NCAPG2 0 1 0 0 0 1
NCDN 0 0 0 1 0 1
NDNF 0 0 1 0 0 1
NDUFA11 0 0 1 0 0 1
NDUFA12 1 0 0 0 0 1
NDUFA13 0 1 0 0 0 1
NDUFAF1 0 0 1 0 0 1
NDUFAF8 0 1 0 0 0 1
NDUFB11 0 1 0 0 0 1
NDUFB3 1 0 0 0 0 1
NDUFB9 0 0 1 0 0 1
NDUFS2 0 0 1 0 0 1
NDUFV1 0 0 1 0 0 1
NDUFV2 0 0 1 0 0 1
NEFH 0 0 1 0 0 1
NEK1 1 0 0 0 0 1
NEU1 1 0 0 0 0 1
NEU1, SLC44A4 1 0 0 0 0 1
NFASC 0 0 1 0 0 1
NFE2L2 0 1 0 0 0 1
NHS 1 0 0 0 0 1
NIPA1 0 0 1 0 0 1
NIPAL4 1 0 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
NLRP1 1 0 0 0 0 1
NLRP12 0 0 1 0 0 1
NOBOX 1 0 0 0 0 1
NPM1 0 0 1 0 0 1
NPRL3 0 0 1 0 0 1
NR3C2 0 0 1 0 0 1
NR4A2 0 0 1 0 0 1
NR6A1 1 0 0 0 0 1
NRAP 0 1 0 0 0 1
NRROS 0 1 0 0 0 1
NSDHL 0 0 1 0 0 1
NT5C2 1 0 0 0 0 1
NT5E 0 1 0 0 0 1
NTNG2 0 0 1 0 0 1
NTRK1 0 0 1 0 0 1
NUBPL 0 0 1 0 0 1
NUP107 0 0 1 0 0 1
NYX 0 0 1 0 0 1
OAT 0 0 1 0 0 1
OBI1, POU4F1 0 0 1 0 0 1
ODAD2 1 0 0 0 0 1
ODC1 0 0 1 0 0 1
OPA3 1 0 0 0 0 1
OPHN1 0 1 0 0 0 1
OPTN 0 1 0 0 0 1
OSTM1 1 0 0 0 0 1
OTX2 1 0 0 0 0 1
P3H2 1 0 0 0 0 1
PABPC1 0 0 1 0 0 1
PAK1 1 0 0 0 0 1
PAPSS2 1 0 0 0 0 1
PARP6 0 0 1 0 0 1
PAX4 0 0 1 0 0 1
PAX8 0 1 0 0 0 1
PAX9 0 1 0 0 0 1
PCLO 0 0 1 0 0 1
PCNT 1 0 0 0 0 1
PCSK9 1 0 0 0 0 1
PCYT1A 0 1 0 0 0 1
PDCD10 0 1 0 0 0 1
PDGFB 0 0 1 0 0 1
PDHX 1 0 0 0 0 1
PDP1 0 0 1 0 0 1
PDYN 0 0 1 0 0 1
PDZD8 0 0 1 0 0 1
PEPD 1 0 0 0 0 1
PEX10 1 0 0 0 0 1
PEX11B 0 1 0 0 0 1
PEX16 0 0 1 0 0 1
PEX5 1 0 0 0 0 1
PGAP2 0 0 1 0 0 1
PHEX 0 1 0 0 0 1
PIGO 0 0 1 0 0 1
PIGT 1 0 0 0 0 1
PIGV 0 0 1 0 0 1
PIK3CD 0 0 1 0 0 1
PIK3R2 1 0 0 0 0 1
PINK1 0 0 1 0 0 1
PIP5K1C 0 1 0 0 0 1
PITX1 0 0 1 0 0 1
PLAA 0 1 0 0 0 1
PLCB1 0 0 1 0 0 1
PLCB4 0 1 0 0 0 1
PLCG2 0 0 1 0 0 1
PLEC 1 0 0 0 0 1
PLG 1 0 0 0 0 1
PLOD2 0 0 1 0 0 1
PLOD3 0 0 1 0 0 1
PLS1 0 0 1 0 0 1
PNP 0 1 0 0 0 1
POC1A 0 0 1 0 0 1
POC1B, POC1B-DUSP6 0 0 1 0 0 1
PODXL 0 0 1 0 0 1
POLR1B 0 0 1 0 0 1
POLR1C 0 1 0 0 0 1
POLR2A 0 0 1 0 0 1
POMK 0 0 1 0 0 1
POT1 1 0 0 0 0 1
PPFIBP1 1 0 0 0 0 1
PPIP5K2 0 0 1 0 0 1
PPP1R13L 1 0 0 0 0 1
PPP1R21 1 0 0 0 0 1
PPP2R5C 0 0 1 0 0 1
PPP3CA 1 0 0 0 0 1
PPP5C 0 0 1 0 0 1
PRDM6 0 0 1 0 0 1
PRICKLE1 0 0 1 0 0 1
PRKACB 1 0 0 0 0 1
PRKAR1A 1 0 0 0 0 1
PRKCG 0 0 1 0 0 1
PRKDC 0 0 1 0 0 1
PRKG1 0 0 1 0 0 1
PRUNE1 1 0 0 0 0 1
PRX 0 0 1 0 0 1
PSAP 0 1 0 0 0 1
PSEN2 0 0 1 0 0 1
PSMF1 0 0 1 0 0 1
PSTPIP1 1 0 0 0 0 1
PTCD3 0 1 0 0 0 1
PTF1A 0 1 0 0 0 1
PTH1R 0 0 1 0 0 1
PTPN1 0 1 0 0 0 1
PTPRA, VPS16 0 0 1 0 0 1
PUS7 0 0 1 0 0 1
QARS1 0 0 1 0 0 1
RAB23 1 0 0 0 0 1
RAD50, TH2LCRR 0 0 1 0 0 1
RAD51D, RAD51L3-RFFL 1 0 0 0 0 1
RALGAPB 0 0 1 0 0 1
RAP1B 0 0 1 0 0 1
RARA 0 0 1 0 0 1
RBP4 0 0 1 0 0 1
REEP1 0 1 0 0 0 1
REN 0 0 1 0 0 1
RFX3 1 0 0 0 0 1
RIMS1 0 0 1 0 0 1
RMND1 0 1 0 0 0 1
RNASEH2A 0 1 0 0 0 1
RNF170 1 0 0 0 0 1
RNF220 1 0 0 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 0 1
RNU4-2, SIRT4 1 0 0 0 0 1
ROR2 0 1 0 0 0 1
RORB 0 0 1 0 0 1
RP1 1 0 0 0 0 1
RPA1 0 0 1 0 0 1
RPE65 1 0 0 0 0 1
RPL11 1 0 0 0 0 1
RPL13 0 0 1 0 0 1
RPL31 0 1 0 0 0 1
RRAS 0 0 1 0 0 1
RS1 1 0 0 0 0 1
RUSF1, SLC5A2 0 0 0 1 0 1
RXYLT1 0 0 1 0 0 1
SACK1H 1 0 0 0 0 1
SAG 1 0 0 0 0 1
SAR1B 0 1 0 0 0 1
SARS1 0 0 1 0 0 1
SCN9A 0 0 1 0 0 1
SCNN1A 1 0 0 0 0 1
SCNN1G 0 0 1 0 0 1
SCO1 0 0 1 0 0 1
SCO2, TYMP 0 0 1 0 0 1
SCUBE3 0 0 1 0 0 1
SCYL1 1 0 0 0 0 1
SDHAF1 1 0 0 0 0 1
SDHB 1 0 0 0 0 1
SEMA3A 0 0 1 0 0 1
SEMA4A 0 0 0 1 0 1
SEMA6B 0 0 1 0 0 1
SET 0 1 0 0 0 1
SF3B2 1 0 0 0 0 1
SGCE 1 0 0 0 0 1
SGCG 1 0 0 0 0 1
SH2D1A 1 0 0 0 0 1
SHQ1 0 1 0 0 0 1
SHROOM4 0 0 1 0 0 1
SKIC2 1 0 0 0 0 1
SLC18A2 0 0 1 0 0 1
SLC1A2 0 0 1 0 0 1
SLC1A3 0 0 1 0 0 1
SLC25A12 0 0 1 0 0 1
SLC25A13 1 0 0 0 0 1
SLC25A24 0 0 1 0 0 1
SLC25A4 1 0 0 0 0 1
SLC30A2 0 1 0 0 0 1
SLC30A9 0 1 0 0 0 1
SLC35A2 0 0 0 1 0 1
SLC35F1 0 0 1 0 0 1
SLC39A13 0 0 1 0 0 1
SLC4A11 1 0 0 0 0 1
SLC52A1 0 0 1 0 0 1
SLC52A3 0 1 0 0 0 1
SLITRK2 0 0 1 0 0 1
SLITRK6 0 0 1 0 0 1
SMARCA1 0 1 0 0 0 1
SMARCC2 0 0 1 0 0 1
SMARCE1 1 0 0 0 0 1
SMCHD1 0 0 1 0 0 1
SMN2 0 0 0 1 0 1
SMO 1 0 0 0 0 1
SNAP25 0 1 0 0 0 1
SNRPB 1 0 0 0 0 1
SOCS1 1 0 0 0 0 1
SOX9 1 0 0 0 0 1
SP110, SP140 1 0 0 0 0 1
SPAG1 1 0 0 0 0 1
SPEG 0 0 1 0 0 1
SPG21 0 1 0 0 0 1
SPINT2 0 1 0 0 0 1
SPOP 0 0 1 0 0 1
SPTLC1 1 0 0 0 0 1
SPTLC2 1 0 0 0 0 1
SRP54 1 0 0 0 0 1
SRPK3 0 0 1 0 0 1
SRPX2 0 0 1 0 0 1
SRSF1 0 1 0 0 0 1
STAMBP 1 0 0 0 0 1
STIM1 0 0 1 0 0 1
STX11 0 0 1 0 0 1
SUCLG1 0 0 1 0 0 1
SUMF1 1 0 0 0 0 1
SUZ12 0 0 1 0 0 1
SV2A 0 0 1 0 0 1
SYNCRIP 1 0 0 0 0 1
SYNE2 0 0 1 0 0 1
SYT1 0 1 0 0 0 1
TACR3 0 0 1 0 0 1
TAOK2 0 0 1 0 0 1
TAP2 1 0 0 0 0 1
TAPBPL, VAMP1 0 0 1 0 0 1
TBC1D1 0 0 1 0 0 1
TBC1D23 1 0 0 0 0 1
TBC1D32 1 0 0 0 0 1
TBX1 0 0 1 0 0 1
TBX19 0 1 0 0 0 1
TBX22 0 1 0 0 0 1
TBX3 0 0 1 0 0 1
TBX4 0 1 0 0 0 1
TBXAS1 0 1 0 0 0 1
TCEAL1 0 1 0 0 0 1
TCF7L2 0 1 0 0 0 1
TCTN2 1 0 0 0 0 1
TEK 1 0 0 0 0 1
TET2 0 0 1 0 0 1
TFR2 0 0 1 0 0 1
TGFB1 1 0 0 0 0 1
TGFB3 0 0 0 1 0 1
TGIF1 0 0 1 0 0 1
TIMM50 1 0 0 0 0 1
TMEM260 1 0 0 0 0 1
TMEM63A 0 0 1 0 0 1
TNC 0 0 1 0 0 1
TNFRSF1A 1 0 0 0 0 1
TNK2 0 0 1 0 0 1
TNNI2 1 0 0 0 0 1
TNNT3 0 1 0 0 0 1
TNPO3 0 0 1 0 0 1
TNS2 0 0 1 0 0 1
TOP2B 0 0 1 0 0 1
TOPORS 0 0 1 0 0 1
TOR1A 1 0 0 0 0 1
TP53 1 0 0 0 0 1
TP53BP1, TUBGCP4 1 0 0 0 0 1
TPP2 0 0 1 0 0 1
TPRN 1 0 0 0 0 1
TRAPPC2L 0 0 0 1 0 1
TRAPPC4 1 0 0 0 0 1
TRAPPC6B 0 1 0 0 0 1
TRIM71 0 0 1 0 0 1
TRIP11 1 0 0 0 0 1
TRIT1 1 0 0 0 0 1
TRMT1 0 0 1 0 0 1
TRPM4 0 0 0 1 0 1
TRPV4 0 0 1 0 0 1
TSEN54 0 0 0 0 1 1
TSPAN12 0 0 1 0 0 1
TSPOAP1 0 0 1 0 0 1
TTI2 0 0 1 0 0 1
TUBB2B 0 1 0 0 0 1
TUBGCP2 0 1 0 0 0 1
TUSC3 1 0 0 0 0 1
TWIST2 1 0 0 0 0 1
TXNDC15 0 0 1 0 0 1
U2AF2 1 0 0 0 0 1
UBA2 0 0 1 0 0 1
UBIAD1 0 1 0 0 0 1
UBR1 0 0 1 0 0 1
UGP2 1 0 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 0 0 0 1
UNC45B 1 0 0 0 0 1
UROD 1 0 0 0 0 1
USB1 0 1 0 0 0 1
USP25 0 0 1 0 0 1
VAC14 0 1 0 0 0 1
VIM 0 0 1 0 0 1
VLDLR 0 1 0 0 0 1
VMA21 0 0 0 1 0 1
VPS37A 0 0 1 0 0 1
VWA1 1 0 0 0 0 1
WARS1 0 0 1 0 0 1
WASHC4 0 1 0 0 0 1
WASHC5 0 0 1 0 0 1
WBP11 1 0 0 0 0 1
WDR44 0 1 0 0 0 1
WDR47 0 0 1 0 0 1
WNK3 0 0 1 0 0 1
WNK4 0 0 1 0 0 1
WNT10B 1 0 0 0 0 1
WRAP53 0 1 0 0 0 1
XDH 1 0 0 0 0 1
XIAP 1 0 0 0 0 1
YWHAG 1 0 0 0 0 1
YY1AP1 0 0 1 0 0 1
ZBTB24 0 1 0 0 0 1
ZMYM3 0 1 0 0 0 1
ZMYND10 0 0 1 0 0 1
ZMYND11 1 0 0 0 0 1
ZNF148 0 0 1 0 0 1
ZNF687 1 0 0 0 0 1
ZNF699 1 0 0 0 0 1
ZNF711 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 2794
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Polycystic kidney disease, adult type 217 39 141 8 0 405
Neurodevelopmental disorder 41 50 125 4 0 220
Alport syndrome 66 79 31 0 0 176
Dilated cardiomyopathy 1G 12 67 28 1 0 108
Hypertrophic cardiomyopathy 4 56 12 28 0 0 96
Polycystic kidney disease 2 59 4 21 0 0 84
X-linked Alport syndrome 57 17 7 0 0 81
Polycystic kidney disease 4 41 17 21 0 0 79
Hypertrophic cardiomyopathy 1 16 18 24 3 0 61
Long QT syndrome 1 42 10 7 1 0 60
Marfan syndrome 35 10 12 1 0 58
Long QT syndrome 2 22 7 19 0 0 48
Kabuki syndrome 1 27 3 11 5 0 46
Neurofibromatosis, type 1 39 3 4 0 0 46
Autosomal recessive nonsyndromic hearing loss 1A 30 2 11 0 1 44
KBG syndrome 19 3 16 5 0 43
Wiedemann-Steiner syndrome 21 3 15 1 0 40
Catecholaminergic polymorphic ventricular tachycardia 1 12 11 13 2 0 38
Familial hypokalemia-hypomagnesemia 35 1 2 0 0 38
Noonan syndrome 1 30 3 4 0 0 37
Hypertrophic cardiomyopathy 26 4 0 32 0 0 36
Usher syndrome type 2A 28 3 4 0 0 35
Brugada syndrome 1 11 7 15 0 0 33
Primary dilated cardiomyopathy 10 4 17 2 0 33
Hypercholesterolemia, familial, 1 27 2 2 1 0 32
Coffin-Siris syndrome 1 26 2 3 0 0 31
Cystic fibrosis 28 2 0 0 0 30
Sotos syndrome 18 6 5 1 0 30
Cardiomyopathy, familial hypertrophic 27 9 2 18 0 0 29
Arrhythmogenic right ventricular dysplasia 8 11 1 14 2 0 28
Cornelia de Lange syndrome 1 14 3 10 1 0 28
Mitochondrial disease 18 4 6 0 0 28
RYR1-related myopathy 9 1 18 0 0 28
CHARGE syndrome 14 3 10 0 0 27
Phenylketonuria 25 1 1 0 0 27
Renal cyst 18 4 5 0 0 27
Cardiomyopathy 8 0 16 2 0 26
Dilated cardiomyopathy 1S 3 6 17 0 0 26
Renal cysts and diabetes syndrome 17 3 6 0 0 26
Arrhythmogenic right ventricular dysplasia 9 16 2 6 1 0 25
Severe early-childhood-onset retinal dystrophy 20 3 2 0 0 25
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 12 1 6 4 0 23
Dilated cardiomyopathy 1A 12 4 7 0 0 23
Intellectual disability, X-linked syndromic, Turner type 1 5 17 0 0 23
Rett syndrome 18 2 2 1 0 23
Rubinstein-Taybi syndrome due to CREBBP mutations 10 3 6 4 0 23
Autosomal recessive nonsyndromic hearing loss 3 9 12 1 0 0 22
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 15 4 2 0 0 21
PTEN hamartoma tumor syndrome 16 5 0 0 0 21
Telangiectasia, hereditary hemorrhagic, type 1 15 5 1 0 0 21
Developmental and epileptic encephalopathy, 4 15 2 1 2 0 20
Finnish congenital nephrotic syndrome 10 3 7 0 0 20
Hereditary spastic paraplegia 4 15 2 3 0 0 20
Intellectual disability, autosomal dominant 5 13 4 3 0 0 20
Congenital contractural arachnodactyly 0 2 16 1 0 19
Developmental and epileptic encephalopathy, 7 16 0 3 0 0 19
Hereditary spastic paraplegia 11 9 3 7 0 0 19
Long QT syndrome 3 7 3 8 1 0 19
Niemann-Pick disease, type C1 8 3 8 0 0 19
Sifrim-Hitz-Weiss syndrome 2 5 12 0 0 19
Wolfram syndrome 1 11 3 4 1 0 19
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 14 1 3 0 0 18
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 14 2 1 1 0 18
Complex neurodevelopmental disorder 10 4 4 0 0 18
Intellectual disability, X-linked 102 13 3 2 0 0 18
Intellectual disability, autosomal dominant 52 4 1 12 1 0 18
Intellectual disability-severe speech delay-mild dysmorphism syndrome 11 2 4 1 0 18
Osteogenesis imperfecta type I 16 0 2 0 0 18
Tuberous sclerosis 2 11 0 6 1 0 18
Cardiomyopathy, familial hypertrophic, 28 0 1 16 0 0 17
Microcephaly 5, primary, autosomal recessive 8 0 9 0 0 17
Neurodevelopmental disorder with or without early-onset generalized epilepsy 3 2 12 0 0 17
Arrhythmogenic right ventricular dysplasia 10 4 1 10 1 0 16
Developmental delay with or without dysmorphic facies and autism 0 1 15 0 0 16
Kleefstra syndrome 2 4 0 11 1 0 16
Wilson disease 10 1 5 0 0 16
Androgen resistance syndrome 9 5 1 0 0 15
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 6 2 7 0 0 15
Cystinuria 8 2 5 0 0 15
Developmental and epileptic encephalopathy, 11 9 2 4 0 0 15
Dilated cardiomyopathy 1DD 2 3 9 1 0 15
Familial juvenile hyperuricemic nephropathy type 1 3 7 5 0 0 15
Intellectual developmental disorder with autism and macrocephaly 10 1 4 0 0 15
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 6 2 7 0 0 15
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 4 10 0 0 15
Pitt-Hopkins syndrome 7 3 4 1 0 15
Recessive dystrophic epidermolysis bullosa 10 4 1 0 0 15
Severe myoclonic epilepsy in infancy 11 1 3 0 0 15
Snijders Blok-Campeau syndrome 4 8 3 0 0 15
Syndromic X-linked intellectual disability Claes-Jensen type 4 5 6 0 0 15
Type 2 collagenopathy 9 5 1 0 0 15
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 6 3 5 0 0 14
Aortic aneurysm, familial thoracic 4 0 0 14 0 0 14
Autosomal recessive nonsyndromic hearing loss 4 12 1 1 0 0 14
Dilated cardiomyopathy 1D 3 2 7 2 0 14
Epilepsy, familial focal, with variable foci 1 8 1 5 0 0 14
Intellectual disability, autosomal dominant 39 5 2 6 1 0 14
Joubert syndrome 17 11 1 2 0 0 14
Long QT syndrome 8 1 1 12 0 0 14
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 5 5 4 0 0 14
Nemaline myopathy 2 4 3 7 0 0 14
Noonan syndrome 10 0 7 7 0 0 14
Noonan syndrome 4 7 1 4 2 0 14
Osteogenesis imperfecta, perinatal lethal 8 5 1 0 0 14
Polycystic kidney disease 3 with or without polycystic liver disease 1 1 12 0 0 14
Severe intellectual disability-progressive spastic diplegia syndrome 9 1 4 0 0 14
Tyrosinase-positive oculocutaneous albinism 7 6 1 0 0 14
Alexander disease 7 2 3 1 0 13
Arrhythmogenic right ventricular dysplasia 5 0 0 13 0 0 13
Ataxia-telangiectasia syndrome 11 0 2 0 0 13
Autosomal recessive nonsyndromic hearing loss 2 7 2 4 0 0 13
Dent disease type 1 7 2 4 0 0 13
Duchenne muscular dystrophy 10 1 2 0 0 13
Familial cancer of breast 10 2 1 0 0 13
Focal segmental glomerulosclerosis 5 3 2 7 1 0 13
Intellectual developmental disorder with dysmorphic facies and ptosis 4 0 9 0 0 13
Intellectual developmental disorder with seizures and language delay 3 1 8 1 0 13
Intellectual disability, X-linked 1 5 1 6 1 0 13
Kabuki syndrome 2 4 0 9 0 0 13
Luscan-Lumish syndrome 3 2 6 2 0 13
Malignant hyperthermia, susceptibility to, 1 7 3 3 0 0 13
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 4 1 6 2 0 13
Noonan syndrome 5 6 1 3 3 0 13
Primary ciliary dyskinesia 7 7 1 5 0 0 13
Pyruvate dehydrogenase E1-alpha deficiency 6 3 4 0 0 13
Stickler syndrome type 1 9 1 3 0 0 13
ZTTK syndrome 6 1 5 1 0 13
Aneurysm-osteoarthritis syndrome 2 8 2 0 0 12
Bosch-Boonstra-Schaaf optic atrophy syndrome 7 3 2 0 0 12
Developmental and epileptic encephalopathy 94 2 4 6 0 0 12
Developmental and epileptic encephalopathy, 13 5 3 4 0 0 12
Dilated cardiomyopathy 1E 1 1 9 1 0 12
Ehlers-Danlos syndrome, classic type, 1 0 1 11 0 0 12
Hereditary factor VIII deficiency disease 5 0 6 1 0 12
Hypertrophic cardiomyopathy 2 3 2 7 0 0 12
Hypertrophic cardiomyopathy 7 7 2 3 0 0 12
Ichthyosis vulgaris 7 0 5 0 0 12
Kleefstra syndrome 1 6 1 5 0 0 12
Nicolaides-Baraitser syndrome 5 3 4 0 0 12
Pendred syndrome 12 0 0 0 0 12
Primary ciliary dyskinesia 3 7 1 4 0 0 12
Smith-Lemli-Opitz syndrome 10 0 2 0 0 12
Telangiectasia, hereditary hemorrhagic, type 2 8 4 0 0 0 12
8q24.3 microdeletion syndrome 6 3 1 1 0 11
Alagille syndrome due to a JAG1 point mutation 7 1 1 2 0 11
Asphyxiating thoracic dystrophy 3 2 3 6 0 0 11
Autosomal dominant nonsyndromic hearing loss 12 1 1 9 0 0 11
Capillary malformation-arteriovenous malformation 2 7 1 3 0 0 11
Developmental and epileptic encephalopathy, 2 7 1 2 1 0 11
Developmental and epileptic encephalopathy, 42 2 2 7 0 0 11
Dilated cardiomyopathy 1HH 4 2 4 1 0 11
Ehlers-Danlos syndrome, type 4 5 3 3 0 0 11
Hypertrophic cardiomyopathy 0 1 9 1 0 11
Intellectual developmental disorder, autosomal dominant 64 6 0 4 1 0 11
Intellectual disability, X-linked 99 0 2 8 1 0 11
Intellectual disability, autosomal dominant 45 1 1 6 3 0 11
Lissencephaly due to TUBA1A mutation 7 3 1 0 0 11
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 5 1 5 0 0 11
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 3 1 5 1 1 11
Neurodevelopmental disorder with hypotonia, seizures, and absent language 1 1 8 1 0 11
PMM2-congenital disorder of glycosylation 9 2 0 0 0 11
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 4 2 5 0 0 11
TTN-related myopathy 1 5 5 0 0 11
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 9 1 0 0 0 10
Arthrogryposis, distal, with impaired proprioception and touch 2 1 6 1 0 10
Autosomal recessive ataxia, Beauce type 2 2 6 0 0 10
Autosomal recessive titinopathy 7 0 3 0 0 10
Brain small vessel disease 2A, autosomal dominant 0 3 6 1 0 10
Cohen syndrome 7 0 3 0 0 10
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 3 1 6 0 0 10
DYRK1A-related intellectual disability syndrome 6 1 3 0 0 10
Dihydropyrimidine dehydrogenase deficiency 6 0 4 0 0 10
Hypohidrotic X-linked ectodermal dysplasia 7 2 1 0 0 10
Intellectual disability, X-linked 93 5 0 5 0 0 10
Intellectual disability, autosomal dominant 13 0 3 5 2 0 10
Loeys-Dietz syndrome 1 1 3 6 0 0 10
Low phospholipid associated cholelithiasis 1 3 6 0 0 10
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 7 2 0 10
Mandibulofacial dysostosis-microcephaly syndrome 4 2 3 1 0 10
Menkes kinky-hair syndrome 4 1 4 1 0 10
Microcephalic primordial dwarfism due to RTTN deficiency 1 1 8 0 0 10
Nephrotic syndrome, type 2 3 3 4 0 0 10
Noonan syndrome 2 4 0 6 0 0 10
O'Donnell-Luria-Rodan syndrome 5 2 2 1 0 10
Ornithine carbamoyltransferase deficiency 6 3 1 0 0 10
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 3 5 2 0 0 10
Schaaf-Yang syndrome 3 0 6 1 0 10
Stickler syndrome type 2 1 8 1 0 0 10
Adrenoleukodystrophy 3 4 2 0 0 9
Atrial septal defect 3 0 0 9 0 0 9
Autosomal recessive nonsyndromic hearing loss 9 2 1 6 0 0 9
Autosomal recessive polycystic kidney disease 7 1 1 0 0 9
Baraitser-Winter syndrome 1 3 3 3 0 0 9
Beta-thalassemia HBB/LCRB 9 0 0 0 0 9
Blepharophimosis - intellectual disability syndrome, SBBYS type 8 0 1 0 0 9
Brain malformations with or without urinary tract defects 3 1 4 1 0 9
COL4A1 or COL4A2-related cerebral small vessel disease 1 2 6 0 0 9
Cardiofaciocutaneous syndrome 1 8 0 1 0 0 9
Chromosome 2q32-q33 deletion syndrome 6 1 2 0 0 9
Clark-Baraitser syndrome 4 1 4 0 0 9
Collagen 6-related myopathy 1 0 7 1 0 9
Congenital contractures of the limbs and face, hypotonia, and developmental delay 3 2 3 1 0 9
Developmental and epileptic encephalopathy, 18 2 0 7 0 0 9
Developmental and epileptic encephalopathy, 9 3 3 3 0 0 9
Developmental delay, impaired speech, and behavioral abnormalities 1 4 3 1 0 9
Dilated cardiomyopathy 1AA 0 3 6 0 0 9
Epilepsy with myoclonic atonic seizures 6 3 0 0 0 9
Familial hypocalciuric hypercalcemia 1 2 3 4 0 0 9
Galactosylceramide beta-galactosidase deficiency 3 1 5 0 0 9
Generalized epilepsy with febrile seizures plus, type 2 4 1 4 0 0 9
Glycogen storage disease, type II 5 2 2 0 0 9
Hereditary spastic paraplegia 15 3 0 6 0 0 9
Intellectual disability, X-linked 99, syndromic, female-restricted 3 2 4 0 0 9
Intellectual disability, autosomal dominant 9 4 2 2 1 0 9
Intellectual disability, autosomal recessive 53 4 1 4 0 0 9
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 4 1 3 1 0 9
KIF1A related neurological disorder 4 1 3 1 0 9
Medium-chain acyl-coenzyme A dehydrogenase deficiency 5 1 2 1 0 9
Mucopolysaccharidosis, MPS-III-A 5 1 3 0 0 9
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 7 2 0 0 0 9
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 4 0 5 0 0 9
Noonan syndrome 8 7 0 2 0 0 9
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 9 0 0 9
Polycystic liver disease 2 3 0 6 0 0 9
Primary hyperoxaluria, type I 6 2 1 0 0 9
Tatton-Brown-Rahman overgrowth syndrome 4 1 4 0 0 9
Tay-Sachs disease 9 0 0 0 0 9
Tuberous sclerosis 1 6 0 3 0 0 9
Usher syndrome type 2C 5 2 2 0 0 9
Very long chain acyl-CoA dehydrogenase deficiency 5 3 1 0 0 9
Weiss-Kruszka syndrome 3 0 6 0 0 9
46,XY sex reversal 3 5 1 2 0 0 8
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 1 5 1 0 8
Aarskog syndrome 4 1 2 1 0 8
Aicardi-Goutieres syndrome 1 4 1 3 0 0 8
Alstrom syndrome 2 0 6 0 0 8
Arrhythmogenic right ventricular dysplasia 12 1 0 7 0 0 8
Autosomal dominant optic atrophy classic form 5 1 2 0 0 8
Autosomal recessive limb-girdle muscular dystrophy type 2A 6 0 2 0 0 8
Beck-Fahrner syndrome 4 0 4 0 0 8
Benign familial hematuria 4 1 3 0 0 8
Bifunctional peroxisomal enzyme deficiency 5 3 0 0 0 8
Breast-ovarian cancer, familial, susceptibility to, 1 6 0 1 0 1 8
COL4A1-related disorder 4 3 1 0 0 8
CTCF-related neurodevelopmental disorder 4 2 2 0 0 8
Cockayne syndrome type 2 3 2 3 0 0 8
Cone-rod dystrophy 3 4 2 1 1 0 8
Developmental and epileptic encephalopathy, 14 4 1 3 0 0 8
Developmental and epileptic encephalopathy, 50 1 1 6 0 0 8
Developmental delay with autism spectrum disorder and gait instability 0 0 8 0 0 8
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 0 8 0 0 8
FOXG1 disorder 5 2 1 0 0 8
Fabry disease 5 0 2 1 0 8
Glomerulopathy with fibronectin deposits 2 1 0 6 1 0 8
Hearing loss, autosomal recessive 57 3 2 3 0 0 8
Houge-Janssens syndrome 1 6 0 1 1 0 8
Hypercholesterolemia, autosomal dominant, type B 2 1 5 0 0 8
Hyperinsulinemic hypoglycemia, familial, 1 6 2 0 0 0 8
Hypertrophic cardiomyopathy 12 0 2 6 0 0 8
Intellectual developmental disorder 62 3 3 2 0 0 8
Intellectual disability, autosomal dominant 14 2 0 5 1 0 8
Intellectual disability, autosomal dominant 22 2 1 4 1 0 8
Macrocephaly, acquired, with impaired intellectual development 3 1 4 0 0 8
Maturity-onset diabetes of the young type 3 6 1 1 0 0 8
Mowat-Wilson syndrome 3 2 3 0 0 8
Multiple acyl-CoA dehydrogenase deficiency 6 2 0 0 0 8
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 4 2 2 0 0 8
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 6 2 0 0 0 8
Poirier-Bienvenu neurodevelopmental syndrome 4 2 2 0 0 8
Pontocerebellar hypoplasia type 6 2 4 2 0 0 8
Proteinuria, chronic benign 4 1 3 0 0 8
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 1 3 3 1 0 8
Sudden cardiac failure, infantile 4 2 2 0 0 8
Syndromic disease 1 0 6 1 0 8
TARP syndrome 4 2 0 2 0 8
Treacher Collins syndrome 1 6 0 2 0 0 8
Usher syndrome type 1D 5 1 2 0 0 8
Vanishing white matter disease 6 0 2 0 0 8
Warsaw breakage syndrome 3 0 5 0 0 8
ALG1-congenital disorder of glycosylation 5 2 0 0 0 7
ALG9-associated autosomal dominant polycystic kidney disease 4 1 2 0 0 7
Acyl-CoA dehydrogenase 9 deficiency 4 3 0 0 0 7
Alpha thalassemia-X-linked intellectual disability syndrome 2 0 4 1 0 7
Au-Kline syndrome 2 4 1 0 0 7
Autism spectrum disorder 6 1 0 0 0 7
Autosomal recessive Alport syndrome 4 1 2 0 0 7
Autosomal recessive nonsyndromic hearing loss 18B 3 1 3 0 0 7
Autosomal recessive nonsyndromic hearing loss 84A 3 0 4 0 0 7
Bohring-Opitz syndrome 3 0 4 0 0 7
CACNA1A-related complex neurodevelopmental disorder 3 2 2 0 0 7
CEP290-related ciliopathy 4 0 3 0 0 7
Capillary malformation-arteriovenous malformation 1 5 1 1 0 0 7
Coffin-Lowry syndrome 4 1 2 0 0 7
Congenital dyserythropoietic anemia, type II 5 2 0 0 0 7
Congenital hyperammonemia, type I 2 0 5 0 0 7
Cowden syndrome 1 5 0 2 0 0 7
Developmental and epileptic encephalopathy, 69 1 1 5 0 0 7
Developmental delay with variable intellectual impairment and behavioral abnormalities 4 0 3 0 0 7
Diamond-Blackfan anemia 6 4 1 2 0 0 7
Dilated cardiomyopathy 1W 0 0 7 0 0 7
Epilepsy, familial focal, with variable foci 3 3 0 3 1 0 7
Fanconi anemia complementation group A 4 1 2 0 0 7
GM1 gangliosidosis 4 1 2 0 0 7
Global developmental delay with or without impaired intellectual development 4 0 3 0 0 7
Glycogen storage disease type III 6 0 1 0 0 7
Hereditary spastic paraplegia 7 6 0 1 0 0 7
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 6 0 1 0 0 7
Hypertrophic cardiomyopathy 3 3 1 3 0 0 7
Hypoparathyroidism, deafness, renal disease syndrome 7 0 0 0 0 7
Infantile liver failure syndrome 2 3 3 1 0 0 7
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 3 0 4 0 0 7
Intellectual developmental disorder, autosomal recessive 74 0 2 5 0 0 7
Intellectual disability, autosomal dominant 42 5 1 1 0 0 7
Intellectual disability, autosomal dominant 56 2 2 3 0 0 7
Joubert syndrome 9 5 1 1 0 0 7
Karyomegalic interstitial nephritis 4 1 2 0 0 7
Loeys-Dietz syndrome 2 1 2 3 1 0 7
MED12-related intellectual disability syndrome 3 0 4 0 0 7
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 3 1 3 0 0 7
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1 0 6 0 0 7
Pilarowski-Bjornsson syndrome 0 2 4 1 0 7
Progressive familial intrahepatic cholestasis type 3 4 1 2 0 0 7
Progressive sclerosing poliodystrophy 2 2 3 0 0 7
Pseudohypoparathyroidism type I A 5 0 2 0 0 7
Radio-Tartaglia syndrome 4 0 2 1 0 7
Rauch-Steindl syndrome 1 1 5 0 0 7
Seizures, benign familial neonatal, 1 6 1 0 0 0 7
Severe X-linked myotubular myopathy 6 1 0 0 0 7
Stargardt disease 0 1 6 0 0 7
Van Maldergem syndrome 2 0 0 7 0 0 7
Vissers-Bodmer syndrome 1 0 6 0 0 7
von Willebrand disease type 1 5 1 1 0 0 7
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 5 0 1 0 0 6
Alagille syndrome due to a NOTCH2 point mutation 2 0 4 0 0 6
Allan-Herndon-Dudley syndrome 2 3 1 0 0 6
Alpha-actinopathy 4 2 0 0 0 6
Alzheimer disease 3 3 2 1 0 0 6
Angelman syndrome 4 1 1 0 0 6
Aortic aneurysm, familial thoracic 6 2 1 3 0 0 6
Aortic aneurysm, familial thoracic 7 0 0 5 1 0 6
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2 0 4 0 0 6
Autism spectrum disorder due to AUTS2 deficiency 1 0 5 0 0 6
Autosomal dominant nonsyndromic hearing loss 2A 0 2 3 1 0 6
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 1 0 5 0 0 6
Autosomal recessive hypophosphatemic bone disease 4 0 2 0 0 6
Autosomal recessive inherited pseudoxanthoma elasticum 3 1 1 1 0 6
Autosomal recessive nonsyndromic hearing loss 12 1 1 4 0 0 6
Autosomal recessive nonsyndromic hearing loss 8 6 0 0 0 0 6
Bardet-Biedl syndrome 2 4 1 1 0 0 6
Bartter disease type 2 1 3 2 0 0 6
Biotinidase deficiency 4 0 2 0 0 6
CHD7-related CHARGE syndrome 4 2 0 0 0 6
Catecholaminergic polymorphic ventricular tachycardia 3 2 2 2 0 0 6
Central core myopathy 1 0 5 0 0 6
Cerebellar atrophy, visual impairment, and psychomotor retardation; 1 2 3 0 0 6
Childhood apraxia of speech 4 1 1 0 0 6
Cobalamin C disease 4 0 2 0 0 6
Complex cortical dysplasia with other brain malformations 1 3 1 2 0 0 6
Congenital multicore myopathy with external ophthalmoplegia 5 1 0 0 0 6
Congenital muscular hypertrophy-cerebral syndrome 3 2 0 1 0 6
Developmental and epileptic encephalopathy, 26 3 1 2 0 0 6
Developmental and epileptic encephalopathy, 57 0 1 5 0 0 6
Developmental and epileptic encephalopathy, 6A 2 1 3 0 0 6
Diabetes insipidus, nephrogenic, X-linked 3 1 2 0 0 6
Dilated cardiomyopathy 1BB 0 0 5 1 0 6
Dyskeratosis congenita, X-linked 0 3 2 1 0 6
Dyskeratosis congenita, autosomal recessive 5 2 1 2 1 0 6
Ehlers-Danlos syndrome due to tenascin-X deficiency 3 0 3 0 0 6
Ehlers-Danlos syndrome, classic type, 2 1 2 3 0 0 6
Epilepsy, early-onset, vitamin B6-dependent 3 0 3 0 0 6
Episodic ataxia type 2 3 0 3 0 0 6
FG syndrome 4 2 1 3 0 0 6
Focal segmental glomerulosclerosis 2 3 1 2 0 0 6
Focal segmental glomerulosclerosis 7 2 0 4 0 0 6
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 3 1 2 0 0 6
Gastrointestinal defects and immunodeficiency syndrome 1 3 1 2 0 0 6
Global developmental delay with speech and behavioral abnormalities 3 0 3 0 0 6
Glutamate pyruvate transaminase 2 deficiency 0 0 6 0 0 6
Glycine encephalopathy 1 2 2 2 0 0 6
Gordon syndrome 1 0 5 0 0 6
Hereditary factor XI deficiency disease 6 0 0 0 0 6
Hereditary spastic paraplegia 47 3 0 3 0 0 6
Heterotopia, periventricular, X-linked dominant 1 0 5 0 0 6
Holt-Oram syndrome 3 0 3 0 0 6
Hypertrichotic osteochondrodysplasia Cantu type 2 2 1 1 0 6
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 1 2 1 0 6
Idiopathic basal ganglia calcification 1 4 0 2 0 0 6
Intellectual developmental disorder with autistic features and language delay, with or without seizures 1 0 4 1 0 6
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 3 1 2 0 0 6
Intellectual developmental disorder, autosomal dominant 66 1 2 2 1 0 6
Intellectual disability, X-linked 49 2 0 4 0 0 6
Intellectual disability, X-linked, syndromic 33 0 0 6 0 0 6
Intellectual disability, autosomal dominant 16 1 1 4 0 0 6
Intellectual disability, autosomal dominant 41 1 1 4 0 0 6
Intellectual disability, autosomal dominant 43 1 0 5 0 0 6
Intellectual disability, autosomal dominant 50 4 1 1 0 0 6
Intellectual disability, autosomal dominant 51 3 2 1 0 0 6
Intellectual disability, autosomal recessive 65 3 0 3 0 0 6
Joubert syndrome 3 1 1 4 0 0 6
LAMA2-related muscular dystrophy 3 1 2 0 0 6
Legius syndrome 6 0 0 0 0 6
Leigh syndrome 2 2 2 0 0 6
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 1 4 0 0 6
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2 1 3 0 0 6
Lymphatic malformation 6 1 1 3 1 0 6
Maturity-onset diabetes of the young type 2 3 2 1 0 0 6
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1 3 2 0 0 6
Microcephaly and chorioretinopathy 1 1 0 5 0 0 6
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 3 1 2 0 0 6
Mitochondrial complex II deficiency, nuclear type 1 0 3 3 0 0 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 3 1 2 0 0 6
Myopathy, proximal, and ophthalmoplegia 1 0 5 0 0 6
Nephrotic syndrome 0 0 6 0 0 6
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 2 3 1 0 0 6
Neurodevelopmental disorder with or without autism or seizures 3 1 2 0 0 6
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2 1 3 0 0 6
Neurodevelopmental disorder with speech impairment and dysmorphic facies 3 0 3 0 0 6
PLA2G6-associated neurodegeneration 4 2 0 0 0 6
Platelet-type bleeding disorder 15 0 1 5 0 0 6
Polycystic kidney disease 6 with or without polycystic liver disease 4 0 2 0 0 6
Polycystic liver disease 3 with or without kidney cysts 4 1 1 0 0 6
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 3 0 3 0 0 6
Pyridoxine-dependent epilepsy 5 1 0 0 0 6
SCN4A-related myopathy, autosomal recessive 2 1 3 0 0 6
Schinzel-Giedion syndrome 4 0 2 0 0 6
Shukla-Vernon syndrome 0 0 6 0 0 6
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 0 5 0 0 6
Spinal muscular atrophy 4 1 1 0 0 6
Spinocerebellar ataxia type 29 3 3 0 0 0 6
Testosterone 17-beta-dehydrogenase deficiency 4 1 1 0 0 6
X-linked intellectual disability, Cantagrel type 2 0 3 1 0 6
3-Methylglutaconic aciduria type 2 2 1 2 0 0 5
ALG3-congenital disorder of glycosylation 2 2 1 0 0 5
ATR-X-related syndrome 2 1 2 0 0 5
Achromatopsia 3 4 1 0 0 0 5
Adult hypophosphatasia 4 0 1 0 0 5
Alkuraya-Kucinskas syndrome 0 0 4 1 0 5
Anemia, congenital dyserythropoietic, type 1a 0 0 5 0 0 5
Aortic aneurysm, familial thoracic 12 0 0 5 0 0 5
Arrhythmogenic right ventricular cardiomyopathy 1 0 4 0 0 5
Autosomal dominant ichthyosis vulgaris 4 0 1 0 0 5
Autosomal dominant nonsyndromic hearing loss 11 0 0 5 0 0 5
Autosomal recessive distal spinal muscular atrophy 1 5 0 0 0 0 5
Autosomal recessive nonsyndromic hearing loss 77 1 2 2 0 0 5
Basal cell nevus syndrome 1 1 1 3 0 0 5
Bethlem myopathy 2 0 1 3 1 0 5
Blepharocheilodontic syndrome 2 4 0 1 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 2 2 0 0 2 1 5
CBL-related disorder 2 1 2 0 0 5
CEBALID syndrome 2 1 2 0 0 5
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 4 0 0 5
Catecholaminergic polymorphic ventricular tachycardia 2 1 0 4 0 0 5
Cerebral cavernous malformation 4 0 1 0 0 5
Charcot-Marie-Tooth disease X-linked dominant 1 3 2 0 0 0 5
Charcot-Marie-Tooth disease type 2A2 3 1 1 0 0 5
Charcot-Marie-Tooth disease type 4C 2 0 3 0 0 5
Choroideremia 4 0 1 0 0 5
Ciliopathy 0 3 2 0 0 5
Coffin-Siris syndrome 6 3 0 2 0 0 5
Cognitive impairment with or without cerebellar ataxia 1 1 3 0 0 5
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2 1 2 0 0 5
Congenital heart defects, multiple types, 7 3 0 2 0 0 5
Congenital myotonia, autosomal recessive form 4 1 0 0 0 5
Costello syndrome 5 0 0 0 0 5
Deficiency of adenosine deaminase 2 3 1 1 0 0 5
Deficiency of butyrylcholinesterase 1 2 1 0 1 5
Developmental and epileptic encephalopathy 0 1 4 0 0 5
Developmental and epileptic encephalopathy, 5 1 0 3 1 0 5
Developmental and epileptic encephalopathy, 54 1 0 4 0 0 5
Dilated cardiomyopathy 1Y 0 0 5 0 0 5
Dilated cardiomyopathy 3B 0 0 5 0 0 5
Distal arthrogryposis type 5D 1 4 0 0 0 5
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 2 1 2 0 0 5
Familial X-linked hypophosphatemic vitamin D refractory rickets 3 2 0 0 0 5
Familial hemophagocytic lymphohistiocytosis 3 4 0 1 0 0 5
Familial renal glucosuria 1 0 3 1 0 5
Feingold syndrome type 1 2 0 3 0 0 5
Gaucher disease type I 4 0 1 0 0 5
Generalized dominant dystrophic epidermolysis bullosa 4 0 1 0 0 5
Glutaric aciduria, type 1 4 1 0 0 0 5
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 1 0 4 0 0 5
Glycogen storage disease, type V 3 0 2 0 0 5
Gorlin syndrome 1 1 3 0 0 5
Greig cephalopolysyndactyly syndrome 1 2 2 0 0 5
Hearing loss, autosomal recessive 110 3 1 1 0 0 5
Hereditary sensory neuropathy-deafness-dementia syndrome 1 0 3 1 0 5
Hereditary spastic paraplegia 30 2 0 0 2 1 5
Hereditary spastic paraplegia 3A 0 4 1 0 0 5
Hereditary spastic paraplegia 48 0 0 5 0 0 5
Hereditary von Willebrand disease 1 1 3 0 0 5
Holoprosencephaly 3 1 3 1 0 0 5
Hypertrophic cardiomyopathy 10 0 0 5 0 0 5
Hypertrophic cardiomyopathy 17 0 0 5 0 0 5
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 5 0 0 5
Hypotonia, ataxia, and delayed development syndrome 1 3 1 0 0 5
Infantile GM1 gangliosidosis 3 1 1 0 0 5
Intellectual disability, autosomal dominant 29 3 0 1 1 0 5
Intellectual disability, autosomal dominant 38 2 1 1 1 0 5
Intellectual disability, autosomal dominant 47 0 1 2 2 0 5
Intellectual disability, autosomal dominant 57 4 0 0 1 0 5
Intellectual disability, autosomal recessive 13 1 0 4 0 0 5
Interstitial lung disease due to ABCA3 deficiency 1 0 4 0 0 5
Intestinal hypomagnesemia 1 3 1 1 0 0 5
Joubert syndrome 23 4 0 1 0 0 5
Joubert syndrome 7 3 1 1 0 0 5
Kartagener syndrome 1 0 4 0 0 5
Koolen-de Vries syndrome 2 0 2 1 0 5
LZTR1-related schwannomatosis 1 3 1 0 0 5
Laminopathy 2 0 3 0 0 5
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 2 1 2 0 0 5
Leukoencephalopathy with vanishing white matter 1 1 1 3 0 0 5
Leukoencephalopathy, diffuse hereditary, with spheroids 1 1 3 1 0 0 5
Macrocephaly, dysmorphic facies, and psychomotor retardation 1 0 4 0 0 5
Macrocephaly-autism syndrome 3 1 1 0 0 5
Malan overgrowth syndrome 5 0 0 0 0 5
Metachromatic leukodystrophy 4 0 0 1 0 5
Methylmalonic acidemia with homocystinuria, type cblX 0 0 5 0 0 5
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 4 1 0 5
Microcephaly 18, primary, autosomal dominant 1 0 4 0 0 5
Microcephaly, growth restriction, and increased sister chromatid exchange 2 2 0 3 0 0 5
Microcephaly, seizures, and developmental delay 3 0 2 0 0 5
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 3 1 1 0 0 5
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 1 4 0 0 5
Mitochondrial DNA depletion syndrome 13 2 1 2 0 0 5
Mucopolysaccharidosis, MPS-II 2 2 1 0 0 5
Nemaline myopathy 8 2 2 1 0 0 5
Nephronophthisis 3 3 1 1 0 0 5
Nephronophthisis 4 3 0 2 0 0 5
Nephrotic syndrome, IIa 26 1 1 3 0 0 5
Neurodegeneration with brain iron accumulation 5 4 0 1 0 0 5
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 1 1 3 0 0 5
Neuronal ceroid lipofuscinosis 2 4 1 0 0 0 5
Neuronal ceroid lipofuscinosis 7 3 1 1 0 0 5
Neuroocular syndrome 1 3 0 2 0 0 5
Nonsyndromic genetic hearing loss 1 0 3 1 0 5
Noonan syndrome 3 3 1 1 0 0 5
Oculocutaneous albinism type 1B 4 0 1 0 0 5
Oculocutaneous albinism type 4 3 2 0 0 0 5
Orofaciodigital syndrome I 5 0 0 0 0 5
Osteogenesis imperfecta with normal sclerae, dominant form 4 1 0 0 0 5
Peroxisome biogenesis disorder due to PEX1 defect 3 0 2 0 0 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 3 2 0 0 0 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 2 1 2 0 0 5
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2 1 2 0 0 5
Pulmonary hypertension, primary, 1 1 0 4 0 0 5
RNU4ATAC spectrum disorder 5 0 0 0 0 5
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 4 0 0 1 0 5
Renal hypodysplasia/aplasia 3 1 2 2 0 0 5
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 3 1 1 0 0 5
Short stature-brachydactyly-obesity-global developmental delay syndrome 3 2 0 0 0 5
Shwachman-Diamond syndrome 1 2 3 0 0 0 5
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 1 0 4 0 0 5
Syndromic X-linked intellectual disability 14 3 0 2 0 0 5
TCF12-related craniosynostosis 3 0 2 0 0 5
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 3 1 1 0 5
Thrombocytopenia 2 3 0 2 0 0 5
Thrombophilia due to protein C deficiency, autosomal dominant 2 2 1 0 0 5
Timothy syndrome 1 0 3 1 0 5
Townes-Brocks syndrome 1 3 0 2 0 0 5
Upshaw-Schulman syndrome 2 2 1 0 0 5
Weaver syndrome 1 1 3 0 0 5
X-linked hydrocephalus syndrome 4 1 0 0 0 5
X-linked intellectual disability Cabezas type 0 1 4 0 0 5
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 3 1 0 0 4
46,XY sex reversal 11 2 0 2 0 0 4
46,XY sex reversal 6 1 0 1 1 1 4
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 3 1 0 0 0 4
Acral peeling skin syndrome 2 0 2 0 0 4
Acrofacial dysostosis Cincinnati type 0 1 3 0 0 4
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 4 0 0 4
Alpha-1-antitrypsin deficiency 3 1 0 0 0 4
Amyotrophic lateral sclerosis type 1 4 0 0 0 0 4
Amyotrophic lateral sclerosis type 4 0 0 4 0 0 4
Arrhythmogenic right ventricular dysplasia 11 0 0 4 0 0 4
Arterial calcification, generalized, of infancy, 2 1 0 2 1 0 4
Arthrogryposis multiplex congenita 6 3 0 1 0 0 4
Atrophia bulborum hereditaria 1 1 2 0 0 4
Autism, susceptibility to, X-linked 2 1 0 3 0 0 4
Autosomal dominant Kenny-Caffey syndrome 1 0 2 0 1 4
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 3 1 0 0 4
Autosomal recessive limb-girdle muscular dystrophy 4 0 0 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2L 3 1 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 16 0 1 3 0 0 4
Autosomal recessive nonsyndromic hearing loss 21 2 0 2 0 0 4
Autosomal recessive nonsyndromic hearing loss 22 2 0 2 0 0 4
Autosomal recessive nonsyndromic hearing loss 28 2 0 2 0 0 4
Autosomal recessive nonsyndromic hearing loss 86 2 2 0 0 0 4
BRCA2-related cancer predisposition 4 0 0 0 0 4
Basilicata-Akhtar syndrome 1 1 1 1 0 4
Becker muscular dystrophy 3 1 0 0 0 4
Benign recurrent intrahepatic cholestasis type 2 0 4 0 0 0 4
Bernard-Soulier syndrome, type A2, autosomal dominant 1 2 1 0 0 4
Bethlem myopathy 1A 2 1 1 0 0 4
Biotin-responsive basal ganglia disease 1 2 1 0 0 4
Brain small vessel disease 1 with or without ocular anomalies 3 0 1 0 0 4
Branchiootorenal syndrome 1 4 0 0 0 0 4
Brittle cornea syndrome 1 3 0 1 0 0 4
Cardiac, facial, and digital anomalies with developmental delay 1 1 2 0 0 4
Catecholaminergic polymorphic ventricular tachycardia 5 0 0 4 0 0 4
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 1 1 1 0 4
Cerebroretinal microangiopathy with calcifications and cysts 1 2 0 2 0 0 4
Charlevoix-Saguenay spastic ataxia 3 0 1 0 0 4
Chopra-Amiel-Gordon syndrome 1 0 3 0 0 4
Classic homocystinuria 1 0 3 0 0 4
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 1 3 0 0 4
Combined oxidative phosphorylation defect type 13 3 1 0 0 0 4
Combined oxidative phosphorylation defect type 20 3 1 0 0 0 4
Combined oxidative phosphorylation defect type 21 1 0 3 0 0 4
Complex cortical dysplasia with other brain malformations 2 0 0 4 0 0 4
Complex cortical dysplasia with other brain malformations 6 0 2 2 0 0 4
Congenital adrenal hypoplasia, X-linked 2 1 0 1 0 4
Congenital amegakaryocytic thrombocytopenia 1 3 1 0 0 0 4
Congenital heart defects, multiple types 1 0 3 0 0 4
Congenital heart defects, multiple types, 2 4 0 0 0 0 4
Congenital microvillous atrophy 3 1 0 0 0 4
Congenital myasthenic syndrome 5 4 0 0 0 0 4
Cortical dysplasia, complex, with other brain malformations 10 0 1 3 0 0 4
Creatine transporter deficiency 3 1 0 0 0 4
Danon disease 1 0 2 1 0 4
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 0 1 0 0 4
Deficiency of aromatic-L-amino-acid decarboxylase 1 3 0 0 0 4
Deficiency of steroid 11-beta-monooxygenase 1 1 0 1 1 4
Developmental and epileptic encephalopathy 92 0 1 3 0 0 4
Developmental and epileptic encephalopathy 93 0 1 3 0 0 4
Developmental and epileptic encephalopathy, 17 3 1 0 0 0 4
Developmental and epileptic encephalopathy, 23 2 0 2 0 0 4
Developmental and epileptic encephalopathy, 28 2 1 1 0 0 4
Developmental and epileptic encephalopathy, 32 1 1 2 0 0 4
Developmental and epileptic encephalopathy, 43 1 0 3 0 0 4
Developmental and epileptic encephalopathy, 44 1 1 2 0 0 4
Developmental and epileptic encephalopathy, 62 1 1 2 0 0 4
Developmental and epileptic encephalopathy, 64 2 0 2 0 0 4
Developmental and epileptic encephalopathy, 67 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 75 1 1 2 0 0 4
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 3 0 1 0 0 4
Dias-Logan syndrome 2 0 2 0 0 4
Dilated cardiomyopathy 1C 0 0 3 1 0 4
Dilated cardiomyopathy 1CC 0 0 4 0 0 4
Dilated cardiomyopathy 1I 0 2 2 0 0 4
Dilated cardiomyopathy 1O 0 0 4 0 0 4
Dilated cardiomyopathy 1R 1 1 2 0 0 4
Dworschak-Punetha neurodevelopmental syndrome 1 2 1 0 0 4
Dyskeratosis congenita, autosomal dominant 1 0 3 1 0 0 4
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 2 0 2 0 0 4
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 3 1 0 4
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2 1 1 0 0 4
Familial Mediterranean fever 4 0 0 0 0 4
Familial adenomatous polyposis 1 4 0 0 0 0 4
Fanconi anemia complementation group D2 2 0 2 0 0 4
Floating-Harbor syndrome 3 0 1 0 0 4
Focal segmental glomerulosclerosis 1 1 0 3 0 0 4
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 3 0 1 0 0 4
Fraser syndrome 1 3 0 1 0 0 4
Glycogen storage disease, type IV 1 1 2 0 0 4
Glycogen storage disorder due to hepatic glycogen synthase deficiency 3 0 1 0 0 4
Growth delay due to insulin-like growth factor I resistance 1 1 2 0 0 4
Harel-Yoon syndrome 0 0 4 0 0 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 2 2 0 0 4
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 4 0 0 4
Hereditary lymphedema type I 2 0 2 0 0 4
Hereditary spastic paraplegia 5A 2 1 1 0 0 4
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 3 0 1 0 0 4
Heterotaxy, visceral, 1, X-linked 0 1 2 1 0 4
Hypercalcemia, infantile, 2 1 1 2 0 0 4
Hyperekplexia 3 1 2 0 1 0 4
Hyperphosphatasia with intellectual disability syndrome 4 1 2 1 0 0 4
Hypertrophic cardiomyopathy 14 0 0 2 2 0 4
Hypertrophic cardiomyopathy 9 0 1 2 1 0 4
Hypogonadotropic hypogonadism 1 with or without anosmia 2 0 2 0 0 4
Hypogonadotropic hypogonadism 2 with or without anosmia 3 0 1 0 0 4
Hypogonadotropic hypogonadism 3 with or without anosmia 0 2 1 1 0 4
Hypothyroidism due to TSH receptor mutations 3 1 0 0 0 4
Imerslund-Grasbeck syndrome type 1 2 0 2 0 0 4
Immunodeficiency, common variable, 12 2 1 1 0 0 4
Immunodeficiency, common variable, 2 3 0 1 0 0 4
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 3 0 0 4
Intellectual developmental disorder with severe speech and ambulation defects 1 1 2 0 0 4
Intellectual developmental disorder, autosomal recessive 73 0 0 4 0 0 4
Intellectual disability, X-linked 106 0 1 3 0 0 4
Intellectual disability, autosomal dominant 1 0 0 4 0 0 4
Intellectual disability, autosomal dominant 24 2 1 1 0 0 4
Intellectual disability, autosomal dominant 34 1 2 1 0 0 4
Intellectual disability, autosomal dominant 48 1 1 2 0 0 4
Intellectual disability, autosomal dominant 54 0 2 2 0 0 4
Intellectual disability, autosomal dominant 55, with seizures 3 0 1 0 0 4
Intellectual disability, autosomal dominant 6 3 0 1 0 0 4
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 4 0 0 4
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2 0 2 0 0 4
L1 syndrome 2 2 0 0 0 4
Lamb-Shaffer syndrome 2 0 2 0 0 4
Left ventricular noncompaction 10 0 0 3 1 0 4
Left ventricular noncompaction 8 0 1 3 0 0 4
Lethal congenital contracture syndrome 11 2 1 1 0 0 4
Loeys-Dietz syndrome 4 3 0 1 0 0 4
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2 2 0 0 0 4
Lowe syndrome 3 0 1 0 0 4
MIRAGE syndrome 0 1 3 0 0 4
Megalencephaly-capillary malformation-polymicrogyria syndrome 2 1 1 0 0 4
Metaphyseal chondrodysplasia, McKusick type 4 0 0 0 0 4
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 3 1 0 0 0 4
Mevalonic aciduria 3 1 0 0 0 4
Microcephalic primordial dwarfism, Alazami type 2 1 1 0 0 4
Microcephaly 1, primary, autosomal recessive 0 0 4 0 0 4
Microcephaly 20, primary, autosomal recessive 0 0 4 0 0 4
Microcephaly, short stature, and limb abnormalities 1 2 0 1 0 4
Mirror movements 1 3 0 1 0 0 4
Mitochondrial DNA depletion syndrome 1 0 1 3 0 0 4
Mitochondrial complex I deficiency, nuclear type 5 2 1 1 0 0 4
Mitochondrial complex IV deficiency, nuclear type 1 1 1 2 0 0 4
Monosomy 7 myelodysplasia and leukemia syndrome 2 0 1 3 0 0 4
Moyamoya disease 2 2 0 1 1 0 4
Mucopolysaccharidosis type 1 3 0 1 0 0 4
Mucopolysaccharidosis type 7 3 0 1 0 0 4
Mullegama-Klein-Martinez syndrome 0 1 3 0 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 3 0 0 4
Multiple mitochondrial dysfunctions syndrome 6 0 0 4 0 0 4
NAD(P)HX dehydratase deficiency 1 3 0 0 0 4
Neonatal-onset encephalopathy with rigidity and seizures 2 0 2 0 0 4
Nephrotic syndrome, type 3 0 0 4 0 0 4
Netherton syndrome 4 0 0 0 0 4
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 4 0 0 4
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 1 0 3 0 0 4
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 1 0 3 0 0 4
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 1 1 1 0 1 4
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 1 0 3 0 0 4
Noonan syndrome 6 4 0 0 0 0 4
Noonan syndrome 9 1 0 3 0 0 4
Oculocutaneous albinism type 1A 4 0 0 0 0 4
Okur-Chung neurodevelopmental syndrome 3 0 1 0 0 4
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 4 0 0 0 0 4
Parenti-mignot neurodevelopmental syndrome 1 1 1 1 0 4
Periventricular nodular heterotopia 9 2 0 2 0 0 4
Peroxisome biogenesis disorder 4A (Zellweger) 4 0 0 0 0 4
Phelan-McDermid syndrome 2 0 2 0 0 4
Polycystic kidney disease 8 1 0 3 0 0 4
Polycystic liver disease 1 3 0 1 0 0 4
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 1 3 0 0 4
Primary ciliary dyskinesia 14 3 0 1 0 0 4
Primary hyperoxaluria, type II 3 1 0 0 0 4
Primrose syndrome 1 1 1 1 0 4
Protoporphyria, erythropoietic, 1 3 0 1 0 0 4
Pyridoxal phosphate-responsive seizures 2 1 1 0 0 4
Retinitis pigmentosa 11 1 0 2 1 0 4
Retinitis pigmentosa 12 2 2 0 0 0 4
Retinitis pigmentosa 25 4 0 0 0 0 4
Retinitis pigmentosa 39 2 1 1 0 0 4
Retinitis pigmentosa 4 4 0 0 0 0 4
Retinoblastoma 4 0 0 0 0 4
Ritscher-Schinzel syndrome 2 0 1 2 1 0 4
Roifman syndrome 2 2 0 0 0 4
Rothmund-Thomson syndrome type 2 1 0 2 0 1 4
Schimke immuno-osseous dysplasia 3 1 0 0 0 4
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 3 0 1 0 0 4
Shashi-Pena syndrome 1 0 3 0 0 4
Sick sinus syndrome 2, autosomal dominant 0 0 4 0 0 4
Spongy degeneration of central nervous system 3 1 0 0 0 4
Succinate-semialdehyde dehydrogenase deficiency 2 1 1 0 0 4
Sucrase-isomaltase deficiency 2 1 1 0 0 4
Syndromic X-linked intellectual disability 94 1 1 2 0 0 4
Syndromic X-linked intellectual disability Najm type 1 0 3 0 0 4
Thyroid hormone resistance, generalized, autosomal dominant 1 2 1 0 0 4
Trichohepatoenteric syndrome 1 1 1 2 0 0 4
Trichorhinophalangeal dysplasia type I 3 0 1 0 0 4
Ullrich congenital muscular dystrophy 2 0 3 1 0 0 4
Usher syndrome type 1 4 0 0 0 0 4
Usher syndrome type 1C 3 0 1 0 0 4
Variegate porphyria 1 0 3 0 0 4
Ververi-Brady syndrome 1 1 2 0 0 4
Vici syndrome 2 1 1 0 0 4
Visceral myopathy 1 4 0 0 0 0 4
Waardenburg syndrome type 1 1 2 1 0 0 4
Wilson-Turner syndrome 0 0 4 0 0 4
X-linked complex neurodevelopmental disorder 0 1 3 0 0 4
ALG8 congenital disorder of glycosylation 2 0 1 0 0 3
AP-4 deficiency syndrome 0 1 2 0 0 3
ATP1A3-associated neurological disorder 2 1 0 0 0 3
Adams-Oliver syndrome 5 1 1 1 0 0 3
Aicardi-Goutieres syndrome 3 1 1 1 0 0 3
Aicardi-Goutieres syndrome 6 1 1 1 0 0 3
Amyloidosis, hereditary systemic 1 2 0 1 0 0 3
Andersen Tawil syndrome 2 0 1 0 0 3
Aortic valve disease 3 0 0 3 0 0 3
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 1 0 2 0 0 3
Arterial tortuosity syndrome 1 0 2 0 0 3
Atrial conduction disease 1 0 2 0 0 3
Atypical hemolytic-uremic syndrome with I factor anomaly 2 0 1 0 0 3
Auditory neuropathy-optic atrophy syndrome 0 1 2 0 0 3
Autism, susceptibility to, 17 2 0 1 0 0 3
Autosomal dominant Parkinson disease 8 1 0 2 0 0 3
Autosomal dominant Robinow syndrome 2 0 0 2 1 0 3
Autosomal dominant centronuclear myopathy 2 0 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 13 0 0 3 0 0 3
Autosomal dominant nonsyndromic hearing loss 22 2 0 1 0 0 3
Autosomal recessive congenital ichthyosis 1 3 0 0 0 0 3
Autosomal recessive juvenile Parkinson disease 2 2 0 1 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 2 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2I 2 1 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 18A 0 2 1 0 0 3
Autosomal recessive osteopetrosis 1 3 0 0 0 0 3
Autosomal recessive spinocerebellar ataxia 10 1 2 0 0 0 3
Autosomal recessive spinocerebellar ataxia 16 1 0 2 0 0 3
Bardet-Biedl syndrome 10 1 2 0 0 0 3
Bartter disease type 1 2 0 1 0 0 3
Basal ganglia calcification, idiopathic, 7, autosomal recessive 0 2 1 0 0 3
Beta-D-mannosidosis 1 2 0 0 0 3
Bilateral frontoparietal polymicrogyria 2 0 1 0 0 3
Birt-Hogg-Dube syndrome 1 3 0 0 0 0 3
Bone marrow failure syndrome 3 1 1 1 0 0 3
Borjeson-Forssman-Lehmann syndrome 2 0 1 0 0 3
Branchiooculofacial syndrome 2 0 1 0 0 3
Brown-Vialetto-van Laere syndrome 2 2 0 1 0 0 3
Camptomelic dysplasia 2 0 1 0 0 3
Cardiac valvular dysplasia, X-linked 1 0 2 0 0 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 3 0 0 0 3
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 0 2 0 0 3
Cardiomyopathy, familial restrictive, 1 3 0 0 0 0 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 1 2 0 0 0 3
Cerebral amyloid angiopathy, APP-related 1 1 1 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 2 0 1 0 0 3
Cerebrooculofacioskeletal syndrome 3 1 0 2 0 0 3
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2 0 0 1 0 3
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 1 1 1 0 0 3
Ciliary dyskinesia, primary, 37 0 0 3 0 0 3
Citrullinemia type I 3 0 0 0 0 3
Cobblestone lissencephaly without muscular or ocular involvement 1 1 1 0 0 3
Coffin-Siris syndrome 10 2 1 0 0 0 3
Coffin-Siris syndrome 11 0 0 2 1 0 3
Coffin-Siris syndrome 7 0 2 1 0 0 3
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 1 0 2 0 0 3
Combined oxidative phosphorylation defect type 23 0 0 3 0 0 3
Combined oxidative phosphorylation defect type 27 0 2 1 0 0 3
Combined oxidative phosphorylation defect type 8 2 0 1 0 0 3
Combined oxidative phosphorylation deficiency 55 0 0 3 0 0 3
Complex cortical dysplasia with other brain malformations 5 3 0 0 0 0 3
Complex neurodevelopmental disorder with motor features 2 0 1 0 0 3
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2 0 0 0 1 3
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 1 2 0 0 3
Congenital disorder of deglycosylation 1 1 2 0 0 0 3
Congenital factor V deficiency 1 1 1 0 0 3
Congenital heart defects, multiple types, 4 1 1 1 0 0 3
Congenital long QT syndrome 2 0 1 0 0 3
Congenital myasthenic syndrome 11 2 1 0 0 0 3
Congenital myopathy 2 0 1 0 0 3
Congenital nongoitrous hypothyroidism 6 1 1 1 0 0 3
Cornelia de Lange syndrome 3 1 1 1 0 0 3
Cornelia de Lange syndrome 5 2 1 0 0 0 3
Cortical dysplasia-focal epilepsy syndrome 2 0 1 0 0 3
Craniofrontonasal syndrome 2 1 0 0 0 3
Craniosynostosis syndrome 1 0 2 0 0 3
Crouzon syndrome 3 0 0 0 0 3
Currarino triad 2 0 1 0 0 3
Deafness with labyrinthine aplasia, microtia, and microdontia 1 0 2 0 0 3
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 2 1 0 0 3
Deficiency of alpha-mannosidase 3 0 0 0 0 3
Deficiency of hydroxymethylglutaryl-CoA lyase 3 0 0 0 0 3
Deficiency of malonyl-CoA decarboxylase 3 0 0 0 0 3
Developmental and epileptic encephalopathy 103 0 0 3 0 0 3
Developmental and epileptic encephalopathy, 27 2 0 1 0 0 3
Developmental and epileptic encephalopathy, 31A 1 0 1 1 0 3
Developmental and epileptic encephalopathy, 35 1 1 1 0 0 3
Developmental and epileptic encephalopathy, 66 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 70 1 0 2 0 0 3
Developmental and epileptic encephalopathy, 78 0 2 1 0 0 3
Developmental delay with or without intellectual impairment or behavioral abnormalities 2 1 0 0 0 3
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 3 0 0 0 0 3
Diencephalic-mesencephalic junction dysplasia syndrome 1 1 0 2 0 0 3
Dilated cardiomyopathy 1FF 0 0 3 0 0 3
Dilated cardiomyopathy 1JJ 0 0 3 0 0 3
Distichiasis-lymphedema syndrome 3 0 0 0 0 3
Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 1 1 0 0 3
Drash syndrome 2 0 1 0 0 3
Duchenne and Becker muscular dystrophy 0 0 3 0 0 3
Dyskinesia with orofacial involvement, autosomal dominant 1 0 2 0 0 3
Dystonia 5 0 1 2 0 0 3
Early-onset myopathy with fatal cardiomyopathy 0 0 3 0 0 3
Ectodermal dysplasia WNT10A related 2 0 1 0 0 3
Ectopia lentis 2, isolated, autosomal recessive 3 0 0 0 0 3
Ehlers-Danlos syndrome, dominant type 4 1 0 2 0 0 3
Ehlers-Danlos syndrome, periodontal type 1 0 1 0 2 0 3
Encephalopathy due to GLUT1 deficiency 3 0 0 0 0 3
Epidermolytic hyperkeratosis 1 2 1 0 0 0 3
Epilepsy 0 1 2 0 0 3
Epilepsy, familial focal, with variable foci 2 1 1 1 0 0 3
Epilepsy, idiopathic generalized, susceptibility to, 10 1 0 2 0 0 3
Epiphyseal dysplasia, multiple, 3 0 0 3 0 0 3
Episodic ataxia type 1 0 1 2 0 0 3
Ethylmalonic encephalopathy 1 1 1 0 0 3
Exostoses, multiple, type 1 3 0 0 0 0 3
FG syndrome 2 0 0 2 1 0 3
FRAXE 0 0 3 0 0 3
Familial hemophagocytic lymphohistiocytosis 2 3 0 0 0 0 3
Familial infantile myasthenia 2 1 0 0 0 3
Familial ovarian cancer 3 0 0 0 0 3
Familial temporal lobe epilepsy 7 0 0 3 0 0 3
Fanconi anemia complementation group C 2 1 0 0 0 3
Fanconi anemia complementation group R 0 1 2 0 0 3
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2 1 0 0 0 3
Filippi syndrome 2 0 1 0 0 3
Focal segmental glomerulosclerosis 8 0 0 3 0 0 3
Frasier syndrome 3 0 0 0 0 3
Frontotemporal dementia 3 0 0 0 0 3
GLUT1 deficiency syndrome 2 1 0 0 0 3
GPR143-related foveal hypoplasia 2 1 0 0 0 3
Gabriele de Vries syndrome 1 2 0 0 0 3
Gaucher disease 3 0 0 0 0 3
Gaze palsy, familial horizontal, with progressive scoliosis 1 2 0 1 0 0 3
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 3 0 0 3
Gillespie syndrome 0 0 3 0 0 3
Glomuvenous malformation 3 0 0 0 0 3
Glucocorticoid deficiency with achalasia 1 0 2 0 0 3
Granulomatous disease, chronic, X-linked 3 0 0 0 0 3
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 3 0 0 3
Hajdu-Cheney syndrome 1 0 2 0 0 3
Hao-Fountain syndrome due to USP7 mutation 1 0 2 0 0 3
Hecht syndrome 1 0 2 0 0 3
Hemochromatosis type 1 2 0 0 1 0 3
Hereditary cancer-predisposing syndrome 2 1 0 0 0 3
Hereditary fructosuria 2 1 0 0 0 3
Hereditary spastic paraplegia 10 1 0 2 0 0 3
Hereditary spastic paraplegia 50 3 0 0 0 0 3
Hereditary spherocytosis type 3 2 0 1 0 0 3
Hermansky-Pudlak syndrome 1 2 1 0 0 0 3
Heterotaxy, visceral, 8, autosomal 2 0 1 0 0 3
Hirschsprung disease, susceptibility to, 1 1 2 0 0 0 3
Holocarboxylase synthetase deficiency 2 1 0 0 0 3
Hyperlipoproteinemia, type I 2 1 0 0 0 3
Hyperphosphatasia with intellectual disability syndrome 5 0 0 3 0 0 3
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 3 0 0 3
Hypogonadotropic hypogonadism 7 with or without anosmia 3 0 0 0 0 3
Hypokalemic periodic paralysis, type 2 2 0 1 0 0 3
Hypomyelinating leukodystrophy 9 0 1 2 0 0 3
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 2 1 0 0 3
Hypophosphatasia 2 0 1 0 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 3 0 0 0 0 3
Infantile cerebellar-retinal degeneration 0 1 2 0 0 3
Infantile neuroaxonal dystrophy 0 0 3 0 0 3
Intellectual developmental disorder with autism and speech delay 2 1 0 0 0 3
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 3 0 0 0 0 3
Intellectual developmental disorder with impaired language and dysmorphic facies 0 1 2 0 0 3
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 1 1 0 0 3
Intellectual developmental disorder, autosomal dominant 67 0 0 3 0 0 3
Intellectual disability 0 0 3 0 0 3
Intellectual disability, X-linked 21 1 0 2 0 0 3
Intellectual disability, X-linked 30 0 0 3 0 0 3
Intellectual disability, X-linked 90 0 0 3 0 0 3
Intellectual disability, autosomal dominant 15 2 0 0 1 0 3
Intellectual disability, autosomal recessive 44 2 1 0 0 0 3
Intellectual disability, autosomal recessive 47 0 0 1 2 0 3
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 3 0 0 0 0 3
Joubert syndrome 18 0 0 3 0 0 3
Joubert syndrome 38 2 1 0 0 0 3
Joubert syndrome 5 3 0 0 0 0 3
KCNH1 associated disorder 1 0 2 0 0 3
Lambdoidal craniosynostosis 0 1 2 0 0 3
Landau-Kleffner syndrome 2 0 1 0 0 3
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 2 1 0 0 3
Leukodystrophy, hypomyelinating, 15 1 0 2 0 0 3
Leukoencephalopathy with vanishing white matter 5 2 1 0 0 0 3
Levy-Hollister syndrome 1 0 2 0 0 3
Liang-Wang syndrome 0 1 2 0 0 3
Lipoyl transferase 1 deficiency 1 2 0 0 0 3
Long QT syndrome 6 0 0 3 0 0 3
Lynch syndrome 4 3 0 0 0 0 3
MOGS-congenital disorder of glycosylation 0 1 2 0 0 3
Macrocephaly-developmental delay syndrome 1 0 2 0 0 3
Maturity-onset diabetes of the young type 1 1 2 0 0 0 3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 2 0 1 0 0 3
Menke-Hennekam syndrome 1 2 1 0 0 0 3
Metaphyseal chondrodysplasia, Schmid type 0 0 3 0 0 3
Microcephaly 15, primary, autosomal recessive 0 0 3 0 0 3
Microcephaly, short stature, and impaired glucose metabolism 1 1 2 0 0 0 3
Microphthalmia, isolated, with coloboma 9 1 0 2 0 0 3
Microphthalmia, syndromic 12 0 3 0 0 0 3
Mitochondrial complex I deficiency, nuclear type 19 1 1 1 0 0 3
Mitochondrial complex I deficiency, nuclear type 26 0 1 2 0 0 3
Mitochondrial complex III deficiency nuclear type 1 2 1 0 0 0 3
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 0 3 0 0 3
Mucopolysaccharidosis, MPS-III-B 3 0 0 0 0 3
Mucopolysaccharidosis, MPS-IV-A 3 0 0 0 0 3
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 3 0 0 3
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 1 1 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 1 1 1 0 0 3
Myhre syndrome 2 0 1 0 0 3
NKX2.5-related congenital, conduction and myopathic heart disease 1 1 1 0 0 3
Nail-patella syndrome 1 1 1 0 0 3
Neonatal severe primary hyperparathyroidism 0 2 1 0 0 3
Nephronophthisis 1 3 0 0 0 0 3
Nephrotic syndrome, type 4 1 0 1 1 0 3
Neurodegeneration with brain iron accumulation 4 3 0 0 0 0 3
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 0 3 0 0 3
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 1 0 2 0 0 3
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 2 1 0 0 3
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 1 2 0 0 3
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 3 0 0 3
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 1 0 2 0 0 3
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2 0 1 0 0 3
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 1 0 0 3
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 1 1 0 0 3
Neurodevelopmental disorder with severe motor impairment and absent language 1 0 2 0 0 3
Neuronal ceroid lipofuscinosis 1 3 0 0 0 0 3
Neutral lipid storage myopathy 0 1 2 0 0 3
Neutropenia, severe congenital, 1, autosomal dominant 3 0 0 0 0 3
Non-syndromic X-linked intellectual disability 0 0 3 0 0 3
Noonan syndrome-like disorder with loose anagen hair 1 2 0 1 0 0 3
Nystagmus 1, congenital, X-linked 2 0 1 0 0 3
Oculocutaneous albinism 3 0 0 0 0 3
Oculofaciocardiodental syndrome 2 0 0 1 0 3
Orofaciodigital syndrome type 6 0 0 3 0 0 3
Osteogenesis imperfecta type 8 1 1 1 0 0 3
Otofaciocervical syndrome 2 0 0 3 0 0 3
PALB2-related cancer predisposition 2 1 0 0 0 3
PERCHING syndrome 0 2 1 0 0 3
PHGDH deficiency 1 1 1 0 0 3
PRRT2-associated paroxysmal movement disorder 3 0 0 0 0 3
Partial androgen insensitivity syndrome 2 1 0 0 0 3
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 2 1 0 0 0 3
Periventricular heterotopia with microcephaly, autosomal recessive 1 0 2 0 0 3
Peroxisome biogenesis disorder 1A (Zellweger) 3 0 0 0 0 3
Peroxisome biogenesis disorder 4B 2 0 1 0 0 3
Persistent Mullerian duct syndrome 1 1 0 1 0 3
Pheochromocytoma/paraganglioma syndrome 5 3 0 0 0 0 3
Polydactyly, postaxial, type a7 3 0 0 0 0 3
Pontocerebellar hypoplasia type 1B 1 2 0 0 0 3
Primary hyperoxaluria type 3 2 1 0 0 0 3
Progressive muscular dystrophy 2 1 0 0 0 3
Progressive myoclonic epilepsy type 3 1 1 1 0 0 3
Propionic acidemia 2 1 0 0 0 3
Pyruvate dehydrogenase E2 deficiency 0 1 2 0 0 3
Pyruvate kinase deficiency of red cells 2 1 0 0 0 3
RAD51C-related cancer predisposition 3 0 0 0 0 3
RFT1-congenital disorder of glycosylation 0 1 2 0 0 3
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 3 0 0 3
Renal tubular acidosis with progressive nerve deafness 3 0 0 0 0 3
Renpenning syndrome 1 0 2 0 0 3
Retinitis pigmentosa 33 0 0 3 0 0 3
Retinitis pigmentosa 43 1 0 2 0 0 3
SATB2 associated disorder 3 0 0 0 0 3
SIN3A-related intellectual disability syndrome 1 1 1 0 0 3
SIN3A-related intellectual disability syndrome due to a point mutation 2 0 1 0 0 3
SRD5A3-congenital disorder of glycosylation 1 1 1 0 0 3
STING-associated vasculopathy with onset in infancy 1 1 1 0 0 3
Sandhoff disease 1 1 1 0 0 3
Schwartz-Jampel syndrome type 1 1 0 2 0 0 3
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 3 0 0 0 0 3
Short-rib thoracic dysplasia 10 with or without polydactyly 1 1 1 0 0 3
Shprintzen-Goldberg syndrome 0 0 2 1 0 3
Silver-Russell syndrome 3 0 0 3 0 0 3
Skraban-Deardorff syndrome 2 1 0 0 0 3
Smith-Magenis syndrome 1 0 2 0 0 3
Spastic ataxia 2 0 0 2 1 0 3
Spastic paraplegia 79A, autosomal dominant, with ataxia 2 1 0 0 0 3
Spinocerebellar ataxia type 15/16 0 1 2 0 0 3
Spinocerebellar ataxia type 19/22 0 3 0 0 0 3
Spinocerebellar ataxia type 5 1 1 1 0 0 3
Spondyloepimetaphyseal dysplasia with multiple dislocations 2 0 1 0 0 3
Stickler syndrome, type 4 0 0 3 0 0 3
Stickler syndrome, type 5 0 0 3 0 0 3
Stickler syndrome, type I, nonsyndromic ocular 2 1 0 0 0 3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 3 0 0 0 0 3
Supravalvar aortic stenosis 0 3 0 0 0 3
Syndromic X-linked intellectual disability Siderius type 0 0 3 0 0 3
TELO2-related intellectual disability-neurodevelopmental disorder 2 1 0 0 0 3
Testicular anomalies with or without congenital heart disease 0 0 2 1 0 3
Thrombocytopenia 5 0 0 3 0 0 3
Thrombophilia due to thrombin defect 1 0 2 0 0 3
Ullrich congenital muscular dystrophy 1A 0 1 2 0 0 3
Waardenburg syndrome type 2A 1 1 1 0 0 3
Warburg micro syndrome 2 0 0 3 0 0 3
X-linked agammaglobulinemia 2 0 1 0 0 3
X-linked intellectual disability, van Esch type 0 0 1 2 0 3
X-linked intellectual disability-psychosis-macroorchidism syndrome 2 0 1 0 0 3
X-linked sideroblastic anemia 1 1 1 1 0 0 3
Xeroderma pigmentosum group A 3 0 0 0 0 3
Xeroderma pigmentosum group B 3 0 0 0 0 3
not specified 0 0 3 0 0 3
von Willebrand disease type 2 2 1 0 0 0 3
2-aminoadipic 2-oxoadipic aciduria 1 0 1 0 0 2
3-methylglutaconic aciduria, type VIIB 0 0 2 0 0 2
46,XX ovarian dysgenesis-short stature syndrome 1 1 0 0 0 2
5-Oxoprolinase deficiency 1 1 0 0 0 2
ALG6-congenital disorder of glycosylation 1C 1 0 1 0 0 2
ALG9 congenital disorder of glycosylation 1 0 1 0 0 2
ALPL-related autosomal recessive hypophosphatasia 2 0 0 0 0 2
Abetalipoproteinaemia 0 2 0 0 0 2
Achondroplasia 2 0 0 0 0 2
Achromatopsia 2 2 0 0 0 0 2
Acid sphingomyelinase deficiency 1 1 0 0 0 2
Acrocallosal syndrome 1 0 1 0 0 2
Acrocephalosyndactyly type I 2 0 0 0 0 2
Acrodysostosis 2 with or without hormone resistance 0 1 1 0 0 2
Acute intermittent porphyria 1 0 1 0 0 2
Adams-Oliver syndrome 1 0 0 2 0 0 2
Adenylosuccinate lyase deficiency 0 2 0 0 0 2
Agammaglobulinemia 8, autosomal dominant 1 0 1 0 0 2
Aicardi-Goutieres syndrome 2 2 0 0 0 0 2
Aicardi-Goutieres syndrome 4 1 1 0 0 0 2
Aicardi-Goutieres syndrome 5 0 1 1 0 0 2
Aicardi-Goutieres syndrome 7 0 0 2 0 0 2
Alopecia-intellectual disability syndrome 4 1 1 0 0 0 2
Alpha-N-acetylgalactosaminidase deficiency 1 0 1 0 0 2
Alveolar capillary dysplasia with pulmonary venous misalignment 2 0 0 0 0 2
Alzheimer disease type 1 1 0 1 0 0 2
Amelogenesis imperfecta hypomaturation type 2A2 2 0 0 0 0 2
Amyotrophic lateral sclerosis type 15 0 0 2 0 0 2
Amyotrophic lateral sclerosis type 16 1 1 0 0 0 2
Amyotrophic lateral sclerosis type 18 0 1 0 1 0 2
Amyotrophic lateral sclerosis type 23 0 1 1 0 0 2
Anauxetic dysplasia 2 0 0 2 0 0 2
Aniridia 1 1 1 0 0 0 2
Anterior segment dysgenesis 0 1 1 0 0 2
Aortic aneurysm, familial thoracic 10 0 1 1 0 0 2
Aortic valve disease 1 1 0 0 1 0 2
Arrhythmogenic right ventricular dysplasia 13 0 0 2 0 0 2
Arterial calcification, generalized, of infancy, 1 0 2 0 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 2 0 1 0 1 0 2
Asphyxiating thoracic dystrophy 4 1 0 1 0 0 2
Ataxia-pancytopenia syndrome 0 0 2 0 0 2
Atrial septal defect 6 0 0 2 0 0 2
Atrial septal defect 7 1 0 1 0 0 2
Atypical glycine encephalopathy 0 0 2 0 0 2
Atypical hemolytic-uremic syndrome with C3 anomaly 1 0 1 0 0 2
Autism, susceptibility to, X-linked 4 1 0 1 0 0 2
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0 1 1 0 0 2
Autosomal dominant Alport syndrome 1 0 1 0 0 2
Autosomal dominant Parkinson disease 4 1 0 1 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 1 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 0 1 0 0 2
Autosomal dominant distal renal tubular acidosis 1 0 1 0 0 2
Autosomal dominant hypocalcemia 1 2 0 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 1 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 10 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 15 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 20 1 0 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 28 1 0 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 3A 1 1 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 4A 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 6 0 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 7 0 0 2 0 0 2
Autosomal dominant omodysplasia 1 0 1 0 0 2
Autosomal recessive DOPA responsive dystonia 2 0 0 0 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 1 0 1 0 0 2
Autosomal recessive bestrophinopathy 1 1 0 0 0 2
Autosomal recessive congenital ichthyosis 3 1 0 1 0 0 2
Autosomal recessive congenital ichthyosis 4A 1 0 1 0 0 2
Autosomal recessive early-onset Parkinson disease 23 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type R18 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 30 0 0 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 42 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 63 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 84B 1 0 1 0 0 2
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 1 0 1 0 0 2
Autosomal recessive spinocerebellar ataxia 13 1 0 0 1 0 2
Band heterotopia of brain 0 0 2 0 0 2
Baraitser-winter syndrome 2 1 1 0 0 0 2
Bardet-Biedl syndrome 1 2 0 0 0 0 2
Bardet-Biedl syndrome 16 0 0 2 0 0 2
Bardet-Biedl syndrome 5 0 0 2 0 0 2
Bardet-Biedl syndrome 7 1 0 1 0 0 2
Bardet-Biedl syndrome 9 0 1 1 0 0 2
Bartter disease type 5 0 2 0 0 0 2
Benign recurrent intrahepatic cholestasis type 1 2 0 0 0 0 2
Birk-Barel syndrome 1 0 1 0 0 2
Blepharophimosis, ptosis, and epicanthus inversus syndrome 2 0 0 0 0 2
Blepharophimosis-impaired intellectual development syndrome 1 1 0 0 0 2
Bloom syndrome 2 0 0 0 0 2
Bone mineral density quantitative trait locus 18 1 0 1 0 0 2
Branchiootic syndrome 1 1 0 1 0 0 2
Brittle cornea syndrome 2 1 1 0 0 0 2
Brown-Vialetto-van Laere syndrome 1 1 1 0 0 0 2
Brugada syndrome 4 0 0 2 0 0 2
Bryant-Li-Bhoj neurodevelopmental syndrome 2 1 0 1 0 0 2
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1 0 1 0 0 2
CCDC115-CDG 1 0 1 0 0 2
CHIME syndrome 2 0 0 0 0 2
COG4-congenital disorder of glycosylation 0 0 2 0 0 2
COG8-congenital disorder of glycosylation 0 0 2 0 0 2
Cardiac arrhythmia, ankyrin-B-related 0 0 2 0 0 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 0 2 0 0 2
Cardiofaciocutaneous syndrome 2 2 0 0 0 0 2
Carnitine palmitoyl transferase II deficiency, myopathic form 2 0 0 0 0 2
Cataract 1 multiple types 2 0 0 0 0 2
Cataract 14 multiple types 0 2 0 0 0 2
Cataract 5 multiple types 1 0 1 0 0 2
Cataract 6 multiple types 0 0 2 0 0 2
Catifa syndrome 0 0 2 0 0 2
Cerebellar ataxia-hypogonadism syndrome 1 0 1 0 0 2
Cerebral cavernous malformation 1 2 0 0 0 0 2
Charcot-Marie-Tooth disease 1 0 1 0 0 2
Charcot-Marie-Tooth disease axonal type 2T 0 0 2 0 0 2
Charcot-Marie-Tooth disease dominant intermediate B 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 1D 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 1F 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 2B1 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 4B3 0 2 0 0 0 2
Charcot-Marie-tooth disease, axonal, type 2DD 1 0 1 0 0 2
Childhood hypophosphatasia 1 1 0 0 0 2
Childhood onset GLUT1 deficiency syndrome 2 2 0 0 0 0 2
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 0 1 0 0 2
Cholestanol storage disease 1 0 1 0 0 2
Cholestasis, intrahepatic, of pregnancy, 3 0 0 2 0 0 2
Cholestasis, progressive familial intrahepatic, 4 2 0 0 0 0 2
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 0 2 0 0 2
Cholesteryl ester storage disease 2 0 0 0 0 2
Chondrodysplasia punctata 2 X-linked dominant 1 1 0 0 0 2
Christianson syndrome 0 0 2 0 0 2
Chudley-McCullough syndrome 2 0 0 0 0 2
Ciliary dyskinesia, primary, 40 0 0 2 0 0 2
Cleidocranial dysostosis 2 0 0 0 0 2
Coffin-Siris syndrome 12 2 0 0 0 0 2
Cohen-Gibson syndrome 1 1 0 0 0 2
Colorectal cancer, hereditary nonpolyposis, type 2 0 1 1 0 0 2
Combined deficiency of sialidase AND beta galactosidase 1 0 1 0 0 2
Combined immunodeficiency due to LRBA deficiency 0 0 2 0 0 2
Combined oxidative phosphorylation defect type 17 0 0 1 1 0 2
Combined oxidative phosphorylation defect type 24 1 0 1 0 0 2
Combined oxidative phosphorylation deficiency 39 0 0 2 0 0 2
Cone-rod dystrophy 13 0 0 2 0 0 2
Cone-rod dystrophy 5 0 0 1 1 0 2
Congenital anomalies of kidney and urinary tract 2 0 0 2 0 0 2
Congenital anomaly of kidney and urinary tract 0 0 2 0 0 2
Congenital defect of folate absorption 2 0 0 0 0 2
Congenital diarrhea 7 with exudative enteropathy 2 0 0 0 0 2
Congenital disorder of deglycosylation 2 0 1 1 0 0 2
Congenital disorder of glycosylation with defective fucosylation 2 0 0 2 0 0 2
Congenital disorder of glycosylation, type IAA 1 0 1 0 0 2
Congenital disorder of glycosylation, type IIr 0 0 2 0 0 2
Congenital factor VII deficiency 2 0 0 0 0 2
Congenital fibrosis of extraocular muscles 0 1 1 0 0 2
Congenital generalized lipodystrophy type 1 1 1 0 0 0 2
Congenital generalized lipodystrophy type 2 1 0 1 0 0 2
Congenital heart defects and ectodermal dysplasia 0 0 2 0 0 2
Congenital heart defects, multiple types, 6 1 1 0 0 0 2
Congenital heart disease 0 0 1 1 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 1 1 0 0 0 2
Congenital myasthenic syndrome 19 1 1 0 0 0 2
Congenital myasthenic syndrome 4A 0 0 2 0 0 2
Congenital myasthenic syndrome 9 0 0 2 0 0 2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 1 1 0 0 0 2
Congenital stationary night blindness 1C 2 0 0 0 0 2
Cornelia de Lange syndrome 4 1 0 1 0 0 2
Cranioectodermal dysplasia 1 0 0 2 0 0 2
Craniosynostosis 7 0 0 2 0 0 2
Craniosynostosis with ectopia lentis 1 1 0 0 0 2
Cutaneous porphyria 2 0 0 0 0 2
Cutis laxa, autosomal dominant 1 0 0 2 0 0 2
Cutis laxa, autosomal recessive, type 1B 0 0 2 0 0 2
Cyclical neutropenia 2 0 0 0 0 2
D-2-hydroxyglutaric aciduria 1 1 1 0 0 0 2
De Lange syndrome 0 0 2 0 0 2
DeSanto-Shinawi syndrome due to WAC point mutation 2 0 0 0 0 2
Deficiency of beta-ureidopropionase 2 0 0 0 0 2
Deficiency of butyryl-CoA dehydrogenase 1 0 0 1 0 2
Deficiency of cytochrome-b5 reductase 2 0 0 0 0 2
Deficiency of guanidinoacetate methyltransferase 2 0 0 0 0 2
Deficiency of phosphoserine phosphatase 0 1 1 0 0 2
Desmin-related myofibrillar myopathy 2 0 0 0 0 2
Developmental and epileptic encephalopathy 108 1 0 1 0 0 2
Developmental and epileptic encephalopathy 112 1 0 1 0 0 2
Developmental and epileptic encephalopathy 6B 0 0 2 0 0 2
Developmental and epileptic encephalopathy 96 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 16 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 36 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 46 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 72 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 73 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 74 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 84 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 87 0 0 1 1 0 2
Developmental delay and seizures with or without movement abnormalities 1 1 0 0 0 2
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 2 0 0 2
Developmental delay with variable neurologic and brain abnormalities 0 1 0 1 0 2
Developmental delay, hypotonia, and impaired language 1 1 0 0 0 2
Developmental malformations-deafness-dystonia syndrome 1 1 0 0 0 2
Diamond-Blackfan anemia 1 2 0 0 0 0 2
Diamond-Blackfan anemia 10 0 0 2 0 0 2
Diamond-Blackfan anemia 12 0 1 1 0 0 2
Diamond-Blackfan anemia 8 1 1 0 0 0 2
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 1 1 0 2
Diffuse nonepidermolytic palmoplantar keratoderma 0 0 2 0 0 2
Dihydropyrimidinase deficiency 1 1 0 0 0 2
Dilated cardiomyopathy 1NN 0 0 2 0 0 2
Dilated cardiomyopathy 2A 0 1 1 0 0 2
Distal myopathy with posterior leg and anterior hand involvement 0 0 2 0 0 2
Duane-radial ray syndrome 1 0 1 0 0 2
Dyskeratosis congenita 0 0 2 0 0 2
Dyskeratosis congenita, autosomal dominant 3 0 0 2 0 0 2
Dystonia 27 0 1 1 0 0 2
Dystonia 28, childhood-onset 0 0 2 0 0 2
Ectodermal dysplasia 17 with or without limb malformations 0 2 0 0 0 2
Ectodermal dysplasia and immunodeficiency 1 0 0 0 2 0 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 1 1 0 0 2
Ellis-van Creveld syndrome 1 0 1 0 0 2
Elsahy-Waters syndrome 1 0 1 0 0 2
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 1 0 0 2
Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 1 1 0 0 0 2
Encephalopathy, acute, infection-induced, susceptibility to, 9 1 1 0 0 0 2
Epidermolysis bullosa simplex 2B, generalized intermediate 2 0 0 0 0 2
Epidermolysis bullosa, junctional 2B, severe 2 0 0 0 0 2
Epilepsy, childhood absence, susceptibility to, 6 0 0 2 0 0 2
Episodic kinesigenic dyskinesia 1 0 0 2 0 0 2
Erythrocytosis, familial, 4 2 0 0 0 0 2
Exostoses, multiple, type 2 2 0 0 0 0 2
Exudative vitreoretinopathy 1 2 0 0 0 0 2
FGFR3-related chondrodysplasia 2 0 0 0 0 2
FOXC1-related anterior segment dysgenesis 0 1 1 0 0 2
Failure to thrive; Cutaneous photosensitivity; Cholestatic liver disease; Premature ovarian insufficiency; Global proximal tubulopathy 2 0 0 0 0 2
Familial acute necrotizing encephalopathy 1 0 1 0 0 2
Familial cardiomyopathy 1 0 1 0 0 2
Familial cystic renal disease 1 0 1 0 0 2
Familial hypobetalipoproteinemia 1 0 0 2 0 0 2
Familial isolated dilated cardiomyopathy 0 0 1 1 0 2
Familial juvenile hyperuricemic nephropathy type 2 1 0 1 0 0 2
Fanconi anemia complementation group D1 1 0 1 0 0 2
Fanconi anemia complementation group J 0 0 2 0 0 2
Fanconi anemia complementation group L 1 1 0 0 0 2
Fanconi anemia complementation group P 0 0 2 0 0 2
Fanconi anemia complementation group Q 0 0 1 1 0 2
Fanconi anemia, complementation group S 1 0 1 0 0 2
Fetal akinesia deformation sequence 3 0 1 1 0 0 2
Fibrosis of extraocular muscles, congenital, 5 0 2 0 0 0 2
Fliedner-Zweier syndrome 2 0 0 0 0 2
Focal dermal hypoplasia 1 0 1 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 1 0 1 0 0 2
Fumarase deficiency 0 2 0 0 0 2
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 1 1 0 0 0 2
GNE myopathy 1 1 0 0 0 2
Galloway-Mowat syndrome 3 1 1 0 0 0 2
Galloway-Mowat syndrome 4 0 0 2 0 0 2
Galloway-Mowat syndrome 6 0 1 1 0 0 2
Gamma-aminobutyric acid transaminase deficiency 1 1 0 0 0 2
Gaucher disease perinatal lethal 0 0 2 0 0 2
Geleophysic dysplasia 1 0 0 1 1 0 2
Generalized epilepsy with febrile seizures plus, type 1 1 1 0 0 0 2
Genitourinary and/or brain malformation syndrome 0 0 2 0 0 2
Glaucoma 3A 1 0 1 0 0 2
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 1 0 1 0 0 2
Glucose-6-phosphate transport defect 2 0 0 0 0 2
Glycogen storage disease IXa1 1 0 1 0 0 2
Glycogen storage disease IXb 1 0 1 0 0 2
Glycogen storage disease IXd 0 1 1 0 0 2
Glycogen storage disease due to muscle beta-enolase deficiency 0 1 1 0 0 2
Glycogen storage disease, type VI 0 0 1 1 0 2
Glycosylphosphatidylinositol biosynthesis defect 15 2 0 0 0 0 2
Glycosylphosphatidylinositol biosynthesis defect 16 0 0 2 0 0 2
H syndrome 1 1 0 0 0 2
Hearing loss, autosomal dominant 78 0 0 2 0 0 2
Hearing loss, autosomal recessive 106 1 0 1 0 0 2
Heart defect - tongue hamartoma - polysyndactyly syndrome 0 1 1 0 0 2
Hemiplegic migraine-developmental and epileptic encephalopathy spectrum 1 1 0 0 0 2
Hemochromatosis type 2A 0 0 2 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 3 0 0 2 0 0 2
Hereditary acrodermatitis enteropathica 1 0 1 0 0 2
Hereditary antithrombin deficiency 0 2 0 0 0 2
Hereditary leiomyomatosis and renal cell cancer 2 0 0 0 0 2
Hereditary orotic aciduria 1 1 0 0 0 2
Hereditary spastic paraplegia 2 0 0 0 0 2
Hereditary spastic paraplegia 35 1 0 1 0 0 2
Hereditary spastic paraplegia 39 0 1 1 0 0 2
Hereditary spastic paraplegia 45 1 1 0 0 0 2
Hereditary spastic paraplegia 49 2 0 0 0 0 2
Hereditary spastic paraplegia 52 0 1 1 0 0 2
Hereditary spastic paraplegia 56 0 1 1 0 0 2
Hereditary spastic paraplegia 74 1 1 0 0 0 2
Hereditary spherocytosis type 2 0 1 1 0 0 2
Hereditary thrombophilia due to congenital protein S deficiency 1 0 1 0 0 2
Hermansky-Pudlak syndrome 3 1 1 0 0 0 2
Hermansky-Pudlak syndrome 5 0 0 1 1 0 2
Hermansky-Pudlak syndrome 6 0 0 2 0 0 2
Heterotaxy, visceral, 5, autosomal 0 2 0 0 0 2
Hiatt-Neu-Cooper neurodevelopmental syndrome 1 0 1 0 0 2
Hidrotic ectodermal dysplasia syndrome 1 0 1 0 0 2
Holoprosencephaly 11 0 0 2 0 0 2
Holoprosencephaly 5 0 0 2 0 0 2
Houge-Janssens syndrome 2 0 1 1 0 0 2
Houge-Janssens syndrome 3 1 0 1 0 0 2
Hurler syndrome 2 0 0 0 0 2
Hydatidiform mole, recurrent, 1 1 1 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 0 1 0 0 2
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 2 0 0 0 2
Hyperekplexia 1 2 0 0 0 0 2
Hyperinsulinemic hypoglycemia, familial, 4 0 2 0 0 0 2
Hypertrophic cardiomyopathy 11 0 0 2 0 0 2
Hypertrophic cardiomyopathy 8 0 0 2 0 0 2
Hyperuricemic nephropathy, familial juvenile type 4 0 1 1 0 0 2
Hypomagnesemia, seizures, and intellectual disability 2 0 0 2 0 0 2
Hypomyelinating leukodystrophy 12 0 0 2 0 0 2
Hypomyelinating leukodystrophy 6 0 1 1 0 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 0 0 0 2
Hypophosphatemic nephrolithiasis/osteoporosis 1 1 0 1 0 0 2
Hypospadias 2, X-linked 0 0 2 0 0 2
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 1 0 1 0 0 2
Ichthyosis prematurity syndrome 1 1 0 0 0 2
Immunodeficiency 31B 1 1 0 0 0 2
Infantile liver failure syndrome 1 1 1 0 0 0 2
Infantile nephronophthisis 1 1 0 0 0 2
Infantile-onset ascending hereditary spastic paralysis 2 0 0 0 0 2
Infantile-onset generalized dyskinesia with orofacial involvement 0 0 2 0 0 2
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 1 1 0 0 2
Intellectual developmental disorder 61 1 0 1 0 0 2
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 2 0 0 0 0 2
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 1 1 0 0 2
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0 0 2 0 0 2
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 1 0 0 2
Intellectual developmental disorder with short stature and behavioral abnormalities 0 0 2 0 0 2
Intellectual developmental disorder, X-linked, syndromic 37 0 0 2 0 0 2
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 2 0 0 2
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 2 0 0 0 0 2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 1 0 2
Intellectual developmental disorder, autosomal dominant 68 2 0 0 0 0 2
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 1 0 1 0 0 2
Intellectual developmental disorder, autosomal dominant 72 2 0 0 0 0 2
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0 1 1 0 0 2
Intellectual disability, X-linked 100 0 0 2 0 0 2
Intellectual disability, X-linked 105 0 0 2 0 0 2
Intellectual disability, X-linked 107 0 0 2 0 0 2
Intellectual disability, X-linked 61 0 0 2 0 0 2
Intellectual disability, X-linked 63 0 0 2 0 0 2
Intellectual disability, X-linked 96 0 1 1 0 0 2
Intellectual disability, X-linked, syndromic, Bain type 2 0 0 0 0 2
Intellectual disability, X-linked, syndromic, Houge type 1 0 1 0 0 2
Intellectual disability, X-linked, with or without seizures, ARX-related 2 0 0 0 0 2
Intellectual disability, X-linked, with panhypopituitarism 0 0 1 1 0 2
Intellectual disability, autosomal dominant 30 1 0 1 0 0 2
Intellectual disability, autosomal dominant 46 1 1 0 0 0 2
Intellectual disability, autosomal dominant 53 1 0 1 0 0 2
Intellectual disability, autosomal recessive 18 0 0 2 0 0 2
Intellectual disability, autosomal recessive 27 1 0 1 0 0 2
Intellectual disability, autosomal recessive 5 1 0 1 0 0 2
Intellectual disability, autosomal recessive 57 2 0 0 0 0 2
Intellectual disability, autosomal recessive 58 1 1 0 0 0 2
Intellectual disability, autosomal recessive 66 2 0 0 0 0 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 0 0 0 1 2
Jackson-Weiss syndrome 1 0 1 0 0 2
Joubert syndrome 1 1 1 0 0 0 2
Joubert syndrome 10 0 0 2 0 0 2
Joubert syndrome 13 1 1 0 0 0 2
Joubert syndrome 14 2 0 0 0 0 2
Joubert syndrome 16 0 1 1 0 0 2
Joubert syndrome 25 0 0 2 0 0 2
Joubert syndrome 30 0 0 2 0 0 2
Joubert syndrome 32 0 0 2 0 0 2
Joubert syndrome 6 2 0 0 0 0 2
Juvenile retinoschisis 2 0 0 0 0 2
KAT6B-related multiple congenital anomalies syndrome 2 0 0 0 0 2
Keipert syndrome 0 0 2 0 0 2
Kugelberg-Welander disease 1 0 0 1 0 2
Kury-Isidor syndrome 0 1 1 0 0 2
L-2-hydroxyglutaric aciduria 1 0 1 0 0 2
Larsen syndrome 0 1 1 0 0 2
Leber congenital amaurosis 1 2 0 0 0 0 2
Leber congenital amaurosis 10 2 0 0 0 0 2
Leber congenital amaurosis 3 2 0 0 0 0 2
Left ventricular noncompaction 0 0 2 0 0 2
Lesch-Nyhan syndrome 1 1 0 0 0 2
Lethal Kniest-like syndrome 1 1 0 0 0 2
Lethal polymalformative syndrome, Boissel type 0 0 2 0 0 2
Leukodystrophy, hypomyelinating, 16 1 0 1 0 0 2
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 0 2 0 0 2
Leukoencephalopathy, progressive, with ovarian failure 1 0 1 0 0 2
Leydig cell agenesis 0 0 2 0 0 2
Lissencephaly 4 0 0 2 0 0 2
Lissencephaly 9 with complex brainstem malformation 0 1 1 0 0 2
Lissencephaly due to LIS1 mutation 2 0 0 0 0 2
Lissencephaly type 1 due to doublecortin gene mutation 1 1 0 0 0 2
Loeys-Dietz syndrome 6 1 0 1 0 0 2
Long QT syndrome 16 2 0 0 0 0 2
Lymphatic malformation 7 1 1 0 0 0 2
MASA syndrome 0 0 2 0 0 2
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 2 0 0 0 0 2
Mandibular hypoplasia-deafness-progeroid syndrome 0 0 2 0 0 2
Maple syrup urine disease 2 0 0 0 0 2
Marshall syndrome 0 1 1 0 0 2
Martsolf syndrome 1 0 0 2 0 0 2
McCune-Albright syndrome 0 0 2 0 0 2
Meckel syndrome, type 6 2 0 0 0 0 2
Meester-Loeys syndrome 0 1 1 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 1 1 0 0 2
Menke-Hennekam syndrome 2 0 0 2 0 0 2
Methylcobalamin deficiency type cblE 1 0 1 0 0 2
Methylmalonic aciduria, cblB type 2 0 0 0 0 2
Microcephaly 17, primary, autosomal recessive 0 0 2 0 0 2
Microcephaly, developmental delay, and brittle hair syndrome 0 0 2 0 0 2
Microcephaly-capillary malformation syndrome 2 0 0 0 0 2
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 2 0 0 0 0 2
Migraine, familial hemiplegic, 2 2 0 0 0 0 2
Mitochondrial DNA deletion syndrome with progressive myopathy 0 1 0 1 0 2
Mitochondrial DNA depletion syndrome 20 (mngie type) 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome 4b 1 0 1 0 0 2
Mitochondrial DNA depletion syndrome 8a 1 0 1 0 0 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 0 2 0 0 2
Mitochondrial DNA depletion syndrome, myopathic form 2 0 0 0 0 2
Mitochondrial complex 2 deficiency, nuclear type 2 2 0 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 10 1 1 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 16 1 0 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 17 1 1 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 2 0 2 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 22 0 0 2 0 0 2
Mitochondrial complex I deficiency, nuclear type 28 0 2 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 3 0 2 0 0 0 2
Mitochondrial complex I deficiency, nuclear type 4 1 0 1 0 0 2
Mitochondrial complex IV deficiency, nuclear type 11 2 0 0 0 0 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 0 2 0 0 2
Mosaic variegated aneuploidy syndrome 1 0 0 2 0 0 2
Mosaic variegated aneuploidy syndrome 3 0 0 2 0 0 2
Mucopolysaccharidosis type 6 2 0 0 0 0 2
Mucopolysaccharidosis, MPS-III-C 0 0 2 0 0 2
Muenke syndrome 1 0 1 0 0 2
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 1 1 0 0 2
Multiple endocrine neoplasia, type 1 2 0 0 0 0 2
Multiple self-healing squamous epithelioma 2 0 0 0 0 2
Multisystemic smooth muscle dysfunction syndrome 2 0 0 0 0 2
Muscular dystrophy, limb-girdle, autosomal dominant 4 1 0 1 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 28 0 0 2 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2 0 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 1 0 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 0 2 0 0 2
Myoclonic dystonia 11 2 0 0 0 0 2
Myofibrillar myopathy 4 1 0 1 0 0 2
Myopathy caused by variation in FKTN 0 0 2 0 0 2
Myopathy caused by variation in POMGNT1 2 0 0 0 0 2
Myopathy caused by variation in POMT1 0 1 1 0 0 2
Myopathy, lactic acidosis, and sideroblastic anemia 2 0 0 2 0 0 2
Nemaline myopathy 10 1 0 1 0 0 2
Neonatal intrahepatic cholestasis due to citrin deficiency 1 0 1 0 0 2
Nephrogenic syndrome of inappropriate antidiuresis 1 0 1 0 0 2
Nephrotic syndrome 14 1 0 0 0 1 2
Nephrotic syndrome, type 20 1 0 1 0 0 2
Nephrotic syndrome, type 24 0 0 2 0 0 2
Neu-Laxova syndrome 2 1 0 1 0 0 2
Neurodegeneration with brain iron accumulation 2B 1 1 0 0 0 2
Neurodegeneration with brain iron accumulation 6 1 1 0 0 0 2
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 2 0 0 2
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0 0 2 0 0 2
Neurodegeneration, infantile-onset, biotin-responsive 1 1 0 0 0 2
Neurodevelopmental disorder with absent language and variable seizures 2 0 0 0 0 2
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 0 0 2 0 0 2
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 1 0 1 0 0 2
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 0 2 0 0 0 2
Neurodevelopmental disorder with epilepsy and brain atrophy 1 0 1 0 0 2
Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 1 1 0 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 1 0 0 2
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 2 0 0 0 0 2
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 1 1 0 0 0 2
Neurodevelopmental disorder with involuntary movements 2 0 0 0 0 2
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 1 1 0 0 0 2
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 1 1 0 0 2
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 1 1 0 0 2
Neurodevelopmental disorder with poor language and loss of hand skills 1 0 1 0 0 2
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 1 1 0 0 0 2
Neurodevelopmental disorder with seizures and speech and walking impairment 2 0 0 0 0 2
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 1 0 1 0 0 2
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 0 2 0 0 2
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 0 2 0 0 2
Neurofibromatosis, type 2 2 0 0 0 0 2
Neuronal ceroid lipofuscinosis 3 1 1 0 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 1 0 0 0 2
Neurooculocardiogenitourinary syndrome 1 0 1 0 0 2
Neuropathy, congenital hypomyelinating, 3 1 0 1 0 0 2
Neuropathy, hereditary motor and sensory, type 6A 0 1 1 0 0 2
Neuropathy, hereditary sensory, type 2C 0 0 2 0 0 2
Noonan syndrome 1 0 1 0 0 2
Noonan syndrome 12 2 0 0 0 0 2
Noonan syndrome-like disorder with loose anagen hair 2 2 0 0 0 0 2
Obesity due to SIM1 deficiency 2 0 0 0 0 2
Obesity due to melanocortin 4 receptor deficiency 2 0 0 0 0 2
Oculocerebrofacial syndrome, Kaufman type 0 0 2 0 0 2
Ogden syndrome 1 1 0 0 0 2
Ornithine aminotransferase deficiency 1 0 1 0 0 2
Orofaciodigital syndrome type 14 0 0 2 0 0 2
Osteogenesis imperfecta 2 0 0 0 0 2
Osteogenesis imperfecta type 7 2 0 0 0 0 2
Osteogenesis imperfecta type III 2 0 0 0 0 2
Osteoporosis 0 0 2 0 0 2
Osteoporosis with pseudoglioma 1 0 0 1 0 2
Osteoporosis, childhood- or juvenile-onset, with developmental delay 0 1 1 0 0 2
Oto-palato-digital syndrome, type I 1 0 1 0 0 2
PIK3CA related overgrowth syndrome 1 0 1 0 0 2
POLR3A-related disorder 0 1 1 0 0 2
PRKAG2-related cardiomyopathy 0 0 2 0 0 2
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 2 0 0 0 2
Palmoplantar keratoderma, punctate type 1A 1 0 1 0 0 2
Paroxysmal extreme pain disorder 1 0 1 0 0 2
Pearson syndrome 2 0 0 0 0 2
Pelizaeus-Merzbacher disease 0 2 0 0 0 2
Periventricular nodular heterotopia 1 1 0 0 0 2
Perlman syndrome 0 0 2 0 0 2
Peroxisome biogenesis disorder 0 0 2 0 0 2
Perry syndrome 0 1 1 0 0 2
Platelet-type bleeding disorder 17 0 1 1 0 0 2
Polycystic kidney disease 5 0 1 0 1 0 2
Polydactyly, postaxial, type a10 0 0 2 0 0 2
Polyglandular autoimmune syndrome, type 1 1 0 1 0 0 2
Polyglucosan body myopathy type 2 1 1 0 0 0 2
Pontocerebellar hypoplasia type 7 1 0 1 0 0 2
Pontocerebellar hypoplasia type 9 1 0 1 0 0 2
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 1 0 0 2
Posterior column ataxia-retinitis pigmentosa syndrome 1 1 0 0 0 2
Primary ciliary dyskinesia 11 2 0 0 0 0 2
Primary ciliary dyskinesia 15 1 0 1 0 0 2
Primary ciliary dyskinesia 19 0 1 1 0 0 2
Primary ciliary dyskinesia 25 1 1 0 0 0 2
Primary ciliary dyskinesia 26 1 0 1 0 0 2
Primary coenzyme Q10 deficiency 8 2 0 0 0 0 2
Primary hypomagnesemia 1 1 0 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 0 0 0 1 2
Progressive pseudorheumatoid dysplasia 2 0 0 0 0 2
Pseudohypoaldosteronism type 2E 1 0 1 0 0 2
RBFOX2-related congenital heart disorder 0 2 0 0 0 2
Rafiq syndrome 0 2 0 0 0 2
Renal carnitine transport defect 1 0 1 0 0 2
Renal coloboma syndrome 0 0 2 0 0 2
Renal tubular dysgenesis of genetic origin 1 1 0 0 0 2
Restrictive dermopathy 1 2 0 0 0 0 2
Retinal dystrophy with or without macular staphyloma 1 0 1 0 0 2
Retinitis pigmentosa 26 2 0 0 0 0 2
Retinitis pigmentosa 3 2 0 0 0 0 2
Retinitis pigmentosa 37 1 1 0 0 0 2
Retinitis pigmentosa 70 0 0 2 0 0 2
Retinitis pigmentosa 88 0 0 2 0 0 2
Retinitis pigmentosa 90 0 1 1 0 0 2
Rhizomelic chondrodysplasia punctata type 1 2 0 0 0 0 2
Right atrial isomerism 1 1 0 0 0 2
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 1 0 1 0 0 2
SQSTM1-related multisystem proteinopathy 0 1 1 0 0 2
SSR4-congenital disorder of glycosylation 0 0 2 0 0 2
STT3A-congenital disorder of glycosylation 1 0 1 0 0 2
Saethre-Chotzen syndrome 1 0 0 1 0 2
Saldino-Mainzer syndrome 1 1 0 0 0 2
Sandestig-stefanova syndrome 0 0 2 0 0 2
Schuurs-Hoeijmakers syndrome 1 0 1 0 0 2
Seizures, benign familial infantile, 2 0 2 0 0 0 2
Seizures, benign familial neonatal, 2 0 0 2 0 0 2
Sengers syndrome 2 0 0 0 0 2
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2 0 0 0 0 2
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 1 0 1 0 0 2
Short QT syndrome 7 0 0 2 0 0 2
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 1 1 0 0 0 2
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 1 1 0 0 0 2
Short-rib thoracic dysplasia 11 with or without polydactyly 2 0 0 0 0 2
Short-rib thoracic dysplasia 15 with polydactyly 0 0 2 0 0 2