ClinVar Miner

Variants from 3billion

Location: South Korea  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
4961 4134 4166 586 2 13848

Gene and significance breakdown #

Total genes and gene combinations: 3029
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 107 40 24 0 0 171
COL4A5 20 52 26 0 0 98
ABCA4 52 30 10 0 0 92
MYBPC3 47 18 20 0 0 85
FBN1 25 31 22 1 0 79
COL4A4 18 27 32 0 0 77
USH2A 34 27 14 0 0 75
DMD 39 21 10 0 0 70
CHD7 31 17 14 6 0 68
MYH7 25 24 18 0 0 67
PKD1 29 18 19 0 0 66
COL1A1 41 16 7 0 0 64
KMT2D 28 18 18 0 0 64
TSC2 27 20 13 4 0 64
COL2A1 24 19 19 0 0 62
RPGR 17 31 6 0 0 54
LOC102724058, SCN1A 15 17 21 0 0 53
ARID1B 24 24 3 1 0 52
TTN 17 25 9 0 0 51
SCN1A 17 21 12 0 0 50
RYR1 11 13 23 1 0 48
COL4A3, MFF-DT 7 19 20 0 0 46
KMT2A 17 16 8 4 0 45
ANKRD11 22 15 2 4 0 43
LAMA2 27 6 10 0 0 43
PTPN11 38 3 2 0 0 43
MECP2 20 16 6 0 0 42
SCN2A 8 17 17 0 0 42
EYS 23 8 10 0 0 41
ATM 28 4 7 0 0 39
COL7A1 21 8 9 0 0 38
KCNQ2 12 17 8 0 0 37
DYSF 20 8 8 0 0 36
PAH 31 3 2 0 0 36
PTEN 16 12 8 0 0 36
SCN8A 8 13 15 0 0 36
CFTR 23 2 10 0 0 35
GLA, RPL36A-HNRNPH2 11 13 9 2 0 35
ATP7B 23 5 6 0 0 34
MYO7A 20 8 5 0 0 33
SLC12A3 20 8 5 0 0 33
ARSA 13 7 10 1 0 31
CAPN3 13 12 6 0 0 31
CDH23 9 5 17 0 0 31
NOTCH3 11 12 8 0 0 31
NSD1 11 12 7 1 0 31
COL1A2 10 13 7 0 0 30
CRB1 9 12 8 0 0 29
CREBBP 7 15 7 0 0 29
COL4A1 6 7 15 0 0 28
GAA 16 5 7 0 0 28
NIPBL 6 14 8 0 0 28
ATM, C11orf65 17 6 4 0 0 27
DYNC1H1 4 12 11 0 0 27
MED13L 6 12 6 3 0 27
VPS13B 14 4 8 1 0 27
BEST1 10 11 5 0 0 26
BRAF 20 5 1 0 0 26
LDLR 14 9 3 0 0 26
PKHD1 10 7 9 0 0 26
SPG11 14 6 6 0 0 26
CEP290 20 4 1 0 0 25
CYP21A2, LOC106780800 10 7 7 1 0 25
EP300 7 9 6 3 0 25
F8 12 11 2 0 0 25
MYO15A 7 7 11 0 0 25
OCA2 4 14 7 0 0 25
ABCB11 9 2 12 1 0 24
CDKL5 7 8 8 1 0 24
CHD3 3 6 14 1 0 24
DYNC2H1 3 10 11 0 0 24
DUOX2 8 5 10 0 0 23
LMNA 10 6 7 0 0 23
ZEB2 9 10 3 1 0 23
ALPK3 12 10 0 0 0 22
ATP1A3 11 7 4 0 0 22
ATRX 6 1 11 4 0 22
CACNA1A 9 8 5 0 0 22
HBB, LOC106099062, LOC107133510 20 2 0 0 0 22
KIF1A 9 8 5 0 0 22
RPE65 13 6 3 0 0 22
SPAST 11 7 4 0 0 22
TCOF1 5 14 3 0 0 22
COL6A1 13 5 3 0 0 21
NPC1 10 6 5 0 0 21
PLA2G6 7 4 10 0 0 21
SACS 5 12 4 0 0 21
SLC2A1 9 5 7 0 0 21
STXBP1 9 6 6 0 0 21
ADNP 7 5 1 7 0 20
AGL 12 4 3 1 0 20
ASPM 14 3 1 2 0 20
GCDH 9 5 6 0 0 20
GJB2 15 3 2 0 0 20
GNAS 6 7 7 0 0 20
JAG1 9 8 3 0 0 20
PIK3CA 13 6 1 0 0 20
PKLR 5 3 12 0 0 20
TULP1 8 5 7 0 0 20
ATP7A 4 5 2 8 0 19
CDKL5, RS1 9 8 2 0 0 19
FGFR3 13 2 4 0 0 19
GALC 8 1 10 0 0 19
RP1 5 12 2 0 0 19
SLC26A4 12 5 2 0 0 19
SPTAN1 2 3 9 5 0 19
TSC1 7 9 1 2 0 19
ABCC8 8 5 5 0 0 18
ABCD1 3 7 8 0 0 18
CC2D2A 7 2 9 0 0 18
DDX3X 6 10 2 0 0 18
FLNC 4 11 3 0 0 18
KMT2B 3 7 7 1 0 18
NPHS1 5 4 8 1 0 18
RAF1 7 0 10 1 0 18
SOS1 11 5 2 0 0 18
UNC13D 9 3 5 1 0 18
WFS1 5 6 7 0 0 18
ASXL3 7 9 1 0 0 17
FOXG1 5 12 0 0 0 17
GRIN2A 4 5 5 3 0 17
HUWE1 2 3 11 1 0 17
MFN2 7 5 5 0 0 17
MMUT 12 1 4 0 0 17
NALCN 8 4 5 0 0 17
PDHA1 4 9 4 0 0 17
POLG 6 4 7 0 0 17
PRPF31 6 8 3 0 0 17
SYNGAP1 8 6 2 1 0 17
TNNI3 7 5 5 0 0 17
AR 4 7 5 0 0 16
CACNA1C 3 3 10 0 0 16
CASK 6 8 2 0 0 16
COL6A2 9 4 3 0 0 16
FAH 4 3 9 0 0 16
GCH1 6 3 7 0 0 16
GCK 6 7 3 0 0 16
LRP5 2 7 7 0 0 16
PAX2 4 10 2 0 0 16
PCCB 6 3 6 1 0 16
PDE6B 6 5 5 0 0 16
PMM2 9 6 1 0 0 16
RHO 9 4 3 0 0 16
SMARCA2 3 8 3 2 0 16
TRRAP 1 1 14 0 0 16
ABCB4 4 4 7 0 0 15
COL11A1 2 4 9 0 0 15
DYRK1A 9 5 1 0 0 15
FGFR1 2 6 7 0 0 15
GRIN2B 4 7 4 0 0 15
PCCA 5 4 6 0 0 15
PKD2 6 6 3 0 0 15
PURA 6 7 2 0 0 15
SATB2 8 5 2 0 0 15
SCN3A 2 5 8 0 0 15
SPG7 9 3 3 0 0 15
SPTB 1 12 2 0 0 15
TCF4 8 4 3 0 0 15
ACAN 4 8 2 0 0 14
ADGRV1 5 6 3 0 0 14
ANK1 1 6 7 0 0 14
FLNA 2 4 8 0 0 14
FOXP1 3 6 5 0 0 14
HEXB 8 3 3 0 0 14
HNRNPK 2 7 5 0 0 14
KAT6A 4 6 1 3 0 14
LRBA 6 4 3 1 0 14
OPA1 6 1 7 0 0 14
PIEZO2 6 5 3 0 0 14
PRPH2 4 7 3 0 0 14
PTCH1 3 8 3 0 0 14
SETD5 5 7 2 0 0 14
SMC1A 7 5 2 0 0 14
WDR45 9 3 2 0 0 14
CACNA1F 2 4 7 0 0 13
CCDST, FLG 5 8 0 0 0 13
CLCN1 5 4 4 0 0 13
CNGA3 7 6 0 0 0 13
CUBN 3 4 6 0 0 13
DNAH5 6 1 6 0 0 13
DNAH9 2 3 8 0 0 13
EXT1 7 4 0 2 0 13
FGFR2 12 0 1 0 0 13
G6PD 7 4 2 0 0 13
GALNS 8 2 3 0 0 13
GLB1 6 4 2 1 0 13
GUCY2D 7 4 2 0 0 13
KCNT1 5 3 4 1 0 13
KDM5C 1 3 9 0 0 13
KMT2C 0 5 5 3 0 13
LZTR1 7 1 4 1 0 13
MPZ 4 6 3 0 0 13
NAA15 5 4 4 0 0 13
NBEA 0 5 6 2 0 13
OCRL 4 3 5 1 0 13
PAX6 4 5 4 0 0 13
PDE6C 8 2 3 0 0 13
RYR2 1 3 9 0 0 13
TCIRG1 6 4 2 1 0 13
TGM1 4 4 5 0 0 13
TLK2 3 6 4 0 0 13
TNNT2 5 4 4 0 0 13
ABCA4, LOC126805793 6 4 2 0 0 12
ANO5 5 4 3 0 0 12
BRAT1 3 2 5 2 0 12
BTK 5 2 4 1 0 12
CDK13 4 5 3 0 0 12
COMP 4 6 2 0 0 12
CUL7 4 4 1 3 0 12
EDA 5 5 2 0 0 12
ETFDH 5 3 4 0 0 12
G6PC1 7 2 3 0 0 12
GALT 8 0 4 0 0 12
GNAO1 4 3 5 0 0 12
ITPR1 1 1 10 0 0 12
KRAS 8 1 3 0 0 12
LAMB2 1 4 3 4 0 12
POGZ 4 5 3 0 0 12
POLR2F, SOX10 4 7 1 0 0 12
PROM1 7 3 2 0 0 12
SCN5A 4 1 6 0 1 12
SLC16A2 3 4 5 0 0 12
SMC3 1 3 8 0 0 12
SNHG14, UBE3A 2 6 3 1 0 12
SON 5 6 1 0 0 12
SPINK5 9 2 1 0 0 12
TH 5 4 3 0 0 12
TMEM67 2 5 5 0 0 12
TRIO 5 1 6 0 0 12
UMOD 1 9 2 0 0 12
ALDH18A1 5 3 3 0 0 11
ASS1 5 4 2 0 0 11
ATL1 3 2 6 0 0 11
CHD2 3 7 1 0 0 11
CHD8 1 5 5 0 0 11
COQ8B 3 5 3 0 0 11
CPLANE1 1 5 3 2 0 11
CSNK2B 5 4 2 0 0 11
CTNNB1, LOC126806659 3 8 0 0 0 11
CTNS 8 2 1 0 0 11
EHMT1 6 4 1 0 0 11
FBN2 1 2 7 1 0 11
GDAP1 3 3 5 0 0 11
HEXA 8 0 3 0 0 11
HNF1B 4 2 5 0 0 11
KANSL1 1 6 3 1 0 11
KCNQ1 9 2 0 0 0 11
LOC126861898, MYH7 5 2 4 0 0 11
MED12 3 3 5 0 0 11
MTOR 1 6 3 1 0 11
MYH3 3 1 7 0 0 11
MYH9 6 2 3 0 0 11
MYO5B 0 2 9 0 0 11
NAGLU 7 1 2 1 0 11
NTRK1 5 3 1 2 0 11
PCARE 7 1 3 0 0 11
PDE6A 6 2 3 0 0 11
POLR3A 4 2 5 0 0 11
RTEL1, RTEL1-TNFRSF6B 1 4 6 0 0 11
SH3TC2 7 3 1 0 0 11
SURF1 6 3 2 0 0 11
TAOK1 1 8 2 0 0 11
TBC1D24 4 1 6 0 0 11
TCF12 5 3 3 0 0 11
TPM1 2 2 7 0 0 11
TPP1 5 1 5 0 0 11
ACTA1 2 6 2 0 0 10
ALDH5A1 5 0 4 1 0 10
ALMS1 7 2 1 0 0 10
ARID2 2 7 0 1 0 10
ASXL1 4 6 0 0 0 10
AUTS2 1 4 4 1 0 10
BTD 5 3 2 0 0 10
CLN6 4 3 3 0 0 10
COL3A1 6 2 1 1 0 10
CPS1 2 1 5 2 0 10
CRX 3 6 1 0 0 10
CSNK2A1 2 6 2 0 0 10
DOCK6 4 1 2 3 0 10
DSP 4 3 3 0 0 10
EBF3 3 3 4 0 0 10
ERCC6 4 5 1 0 0 10
EYS, PHF3 3 4 3 0 0 10
FANCA 7 2 1 0 0 10
FLNB 1 2 5 2 0 10
GJC2 2 4 4 0 0 10
GNE 5 3 2 0 0 10
GNPTAB 7 2 1 0 0 10
GRIN1 3 3 4 0 0 10
KIF11 6 3 1 0 0 10
LAMA1 3 4 1 2 0 10
LAMA5 1 2 7 0 0 10
MAGEL2 3 7 0 0 0 10
NDUFAF6 1 4 5 0 0 10
NFIX 2 7 1 0 0 10
NSD2 2 5 3 0 0 10
PCDH19 3 4 3 0 0 10
PHEX 6 4 0 0 0 10
POLR2A 0 1 8 1 0 10
RIT1 7 1 1 1 0 10
RPS6KA3 2 5 3 0 0 10
SETD1B 1 5 4 0 0 10
SGSH 6 0 4 0 0 10
SLC4A1 4 3 3 0 0 10
SLC6A1 2 5 2 1 0 10
SMARCA4 4 3 3 0 0 10
SMPD1 7 2 1 0 0 10
SOD1 3 4 3 0 0 10
SPTBN1 1 2 7 0 0 10
TEK 0 5 5 0 0 10
TGFBR2 1 5 4 0 0 10
TUBB4A 5 3 2 0 0 10
TYR 8 2 0 0 0 10
UNC80 6 0 3 1 0 10
VWF 4 1 5 0 0 10
WAC 3 6 0 1 0 10
WDR62 3 4 2 1 0 10
WT1 5 3 2 0 0 10
ZNF292 2 7 1 0 0 10
ABCC6 4 3 2 0 0 9
ABCD1, PLXNB3 5 2 2 0 0 9
ACTB 3 5 1 0 0 9
ACTG1 2 3 4 0 0 9
ACTL6B 3 1 5 0 0 9
AGRN 1 0 0 8 0 9
ASL 5 1 3 0 0 9
ATP1A2 2 0 6 1 0 9
BBS10 3 6 0 0 0 9
CASD1, SGCE 5 0 4 0 0 9
CFH 0 1 8 0 0 9
CHM 5 4 0 0 0 9
CLCN4 2 2 4 1 0 9
CLCNKB, LOC106501713 4 0 5 0 0 9
CLN3 4 0 4 1 0 9
CNGB1 5 3 1 0 0 9
CNGB3 4 3 2 0 0 9
CYP11B1, LOC106799833 5 2 2 0 0 9
CYP1B1 5 3 1 0 0 9
DBT 4 3 2 0 0 9
DEPDC5 5 2 1 1 0 9
DNMT3A 3 3 3 0 0 9
FKRP 4 5 0 0 0 9
FOXC1 1 7 1 0 0 9
FRAS1 3 1 3 2 0 9
FREM2 0 1 1 7 0 9
GAN 4 2 3 0 0 9
GJB1 3 4 2 0 0 9
GLDC 3 1 4 1 0 9
GNB1 4 2 3 0 0 9
GRIA2 0 3 6 0 0 9
INF2 2 3 4 0 0 9
IQSEC2 1 5 3 0 0 9
KAT6B 3 5 0 1 0 9
KIF5A 1 2 6 0 0 9
LOXHD1 3 3 3 0 0 9
MTM1 7 0 2 0 0 9
MVP-DT, PRRT2 6 2 1 0 0 9
NEB 5 2 2 0 0 9
NOTCH2 1 4 3 1 0 9
NPHS2 4 3 2 0 0 9
NR2F1 2 3 4 0 0 9
NR5A1 3 0 6 0 0 9
OBSL1 4 1 0 4 0 9
OFD1 2 4 3 0 0 9
PHKA2 2 5 2 0 0 9
PMP22 4 4 1 0 0 9
PRF1 6 1 2 0 0 9
PYCR2 4 1 4 0 0 9
RP2 3 5 1 0 0 9
SAMD9L 0 3 6 0 0 9
SETBP1 3 4 1 1 0 9
SETX 5 3 1 0 0 9
SGCA 3 4 2 0 0 9
SHANK3 3 4 1 1 0 9
SLC12A1 3 1 5 0 0 9
SNRNP200 2 0 7 0 0 9
SRCAP 2 7 0 0 0 9
TBCEL-TECTA, TECTA 3 0 6 0 0 9
TBL1XR1 1 4 4 0 0 9
USP53 3 6 0 0 0 9
WAS 3 4 1 1 0 9
ZMYM2 0 6 3 0 0 9
ABCC2 5 2 1 0 0 8
ADA2 3 2 3 0 0 8
AHDC1 3 5 0 0 0 8
ALG1 1 5 1 1 0 8
AP4M1 4 3 1 0 0 8
APOE 1 4 3 0 0 8
ARX 2 2 4 0 0 8
ATAD3A 1 1 4 2 0 8
ATP6V0A4 3 3 2 0 0 8
ATP8A2 3 1 3 1 0 8
BCL11B 1 2 2 3 0 8
BRCA1 5 2 1 0 0 8
CHRND 1 2 4 1 0 8
CHRNG 6 0 2 0 0 8
CNKSR2 2 2 3 1 0 8
COL12A1 3 3 2 0 0 8
CTCF 2 2 3 1 0 8
CUL3 1 3 4 0 0 8
CUL4B 1 2 5 0 0 8
CYP4V2 3 2 3 0 0 8
DNM1L 3 3 2 0 0 8
EFTUD2 3 5 0 0 0 8
FDXR 1 4 3 0 0 8
FH 2 3 2 1 0 8
FOXL2 2 4 2 0 0 8
GATA3 2 3 3 0 0 8
GBA1, LOC106627981 3 1 3 1 0 8
GLI3 2 4 2 0 0 8
GRIA3 1 1 5 1 0 8
HSD17B4 4 1 3 0 0 8
IDUA 3 3 2 0 0 8
IGHMBP2 4 0 4 0 0 8
IRF2BPL 2 4 1 1 0 8
KCNMA1 0 2 5 1 0 8
LPL 3 2 3 0 0 8
NMNAT1 2 6 0 0 0 8
NRAS 6 2 0 0 0 8
OTC 3 0 5 0 0 8
PHEX, PTCHD1 3 3 2 0 0 8
PPT1 3 3 2 0 0 8
PTPN23 0 2 3 3 0 8
RUNX2 3 3 2 0 0 8
SELENON 7 0 1 0 0 8
SETD2 1 3 3 1 0 8
SLC3A1 2 1 5 0 0 8
SLC45A2 1 5 2 0 0 8
SLCO2A1 1 4 2 1 0 8
SRRM2 1 7 0 0 0 8
TAF1 0 1 7 0 0 8
TBCK 8 0 0 0 0 8
TERT 2 0 6 0 0 8
TMC1 4 1 3 0 0 8
TNPO2 1 2 5 0 0 8
TRPM6 6 0 1 1 0 8
TRPV4 4 1 3 0 0 8
TSPAN12 1 1 6 0 0 8
TUBA1A 2 1 5 0 0 8
TUBB3 3 4 1 0 0 8
USP9X 0 4 3 1 0 8
ZBTB18 1 3 4 0 0 8
ZBTB20 0 7 0 1 0 8
ZMYND11 4 2 2 0 0 8
ABCA12 3 1 3 0 0 7
ACVRL1 3 0 4 0 0 7
AIPL1 1 4 2 0 0 7
ALDH7A1 2 1 4 0 0 7
AMT 2 1 4 0 0 7
ANKRD17 1 2 3 1 0 7
ASH1L 0 4 3 0 0 7
ASPA, SPATA22 4 2 1 0 0 7
AVPR2 3 3 1 0 0 7
BCKDHB 4 1 2 0 0 7
BPTF 1 5 1 0 0 7
C17orf107, CHRNE 4 3 0 0 0 7
CLASP1, RNU4ATAC 4 3 0 0 0 7
CLCN3 0 0 7 0 0 7
CLTC 1 3 2 1 0 7
COL5A1 1 0 6 0 0 7
COL6A3 3 1 3 0 0 7
COQ4 1 3 3 0 0 7
COQ8A 4 3 0 0 0 7
CPT2 2 2 3 0 0 7
CTNNB1 5 1 1 0 0 7
DCX 2 2 3 0 0 7
DES 2 1 4 0 0 7
DHCR7 4 2 1 0 0 7
DHDDS 3 0 4 0 0 7
DLG4 3 2 2 0 0 7
DNM1 1 1 5 0 0 7
DSG2 2 2 3 0 0 7
EDAR, RANBP2 3 0 4 0 0 7
EEF1A2 2 2 3 0 0 7
EXT2 4 2 1 0 0 7
FRMPD4 0 2 5 0 0 7
GABRA1 1 2 4 0 0 7
GARS1 1 2 4 0 0 7
GATAD2B 2 5 0 0 0 7
GFAP 4 2 1 0 0 7
GPR179 3 1 3 0 0 7
HNRNPU 2 4 1 0 0 7
IGF1R 0 4 3 0 0 7
IMPG2 2 3 2 0 0 7
KCNA2 3 1 3 0 0 7
KCNH2 2 1 4 0 0 7
KDM6A 2 5 0 0 0 7
LALTOP, TPO 3 2 2 0 0 7
LOC126862264, MEFV 5 0 2 0 0 7
MBOAT7 3 2 2 0 0 7
MEF2C 0 5 2 0 0 7
MERTK 4 2 1 0 0 7
MFSD8 3 1 3 0 0 7
MLC1 3 0 3 1 0 7
MMACHC 3 3 1 0 0 7
MORC2 3 1 3 0 0 7
MSTO1 4 0 3 0 0 7
MT-ATP6 4 2 1 0 0 7
NAA10 3 3 1 0 0 7
NEB, RIF1 4 2 1 0 0 7
NEFL 4 1 2 0 0 7
NEXMIF 2 4 0 1 0 7
NGLY1 3 3 1 0 0 7
NR2E3 3 3 1 0 0 7
PAFAH1B1 3 3 1 0 0 7
POMT2 2 3 2 0 0 7
POU3F3 0 5 2 0 0 7
PRPF8 1 1 5 0 0 7
RLBP1 3 3 1 0 0 7
SETD1A 0 4 3 0 0 7
SIN3A 1 4 1 1 0 7
SLC22A5 2 2 3 0 0 7
SLC29A3 5 1 0 1 0 7
SLC34A1 0 1 6 0 0 7
SLC9A6 1 1 4 1 0 7
SPTBN2 2 1 4 0 0 7
STAT1 2 3 2 0 0 7
SZT2 1 1 3 2 0 7
TANC2 0 1 5 1 0 7
TBX1 0 3 1 3 0 7
TCF20 2 3 0 2 0 7
TGFBR1 2 3 2 0 0 7
TMPRSS3 3 2 2 0 0 7
TTR 3 2 2 0 0 7
TWNK 1 4 1 1 0 7
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 4 1 2 0 0 7
USH1C 1 3 3 0 0 7
USP7 0 2 5 0 0 7
WASHC5 2 1 2 2 0 7
ABCC9 2 0 4 0 0 6
ACADM 4 1 1 0 0 6
ACTC1, GJD2-DT 1 2 3 0 0 6
ADAMTS17 1 0 2 3 0 6
ADCY5 2 0 4 0 0 6
AFG3L2 1 3 2 0 0 6
AHI1 6 0 0 0 0 6
ALDOB 6 0 0 0 0 6
ANK3 0 0 2 4 0 6
APC 2 3 0 1 0 6
ARFGEF1 0 2 4 0 0 6
ARG1, MED23 4 1 1 0 0 6
ATP6V1B1 3 1 2 0 0 6
BBS2 3 0 3 0 0 6
BCKDHA 1 2 2 1 0 6
BLM 5 1 0 0 0 6
BLOC1S1-RDH5, RDH5 0 4 2 0 0 6
BRCA2 5 0 1 0 0 6
CAMK2B 2 0 4 0 0 6
CAMTA1 0 1 5 0 0 6
CD36 4 1 1 0 0 6
CD40LG 1 3 2 0 0 6
CERKL 1 2 3 0 0 6
CLN8 0 2 4 0 0 6
COL11A2 2 3 1 0 0 6
CRPPA 2 0 4 0 0 6
CSF1R 0 2 4 0 0 6
CTC1 2 1 3 0 0 6
CYFIP2 2 1 2 1 0 6
CYP27A1 4 2 0 0 0 6
CYP27B1 3 2 1 0 0 6
DDR2 0 1 5 0 0 6
DEAF1 1 1 4 0 0 6
DGAT1 2 1 2 1 0 6
DIPK1A, RPL5 2 4 0 0 0 6
DMP1, DSPP 0 4 2 0 0 6
DNM2 2 3 1 0 0 6
DOK7 1 3 0 2 0 6
ECEL1 3 1 2 0 0 6
EIF2B5 3 1 2 0 0 6
EZH2 1 1 4 0 0 6
F9 4 2 0 0 0 6
FBP1 3 2 1 0 0 6
FBXO11 0 2 4 0 0 6
FGA 1 2 3 0 0 6
FGD1 2 1 3 0 0 6
FKBP10 4 1 1 0 0 6
FREM1 1 1 2 2 0 6
GABBR2 1 2 2 1 0 6
GABRB3 3 3 0 0 0 6
GABRG2 2 1 3 0 0 6
GBE1 2 2 2 0 0 6
GH-LCR, SCN4A 2 2 2 0 0 6
GPHN, RDH12 3 2 1 0 0 6
GPIHBP1 0 3 3 0 0 6
GPR143 1 2 3 0 0 6
GYS2 4 1 1 0 0 6
HDAC8 1 3 1 1 0 6
HGSNAT 2 3 1 0 0 6
HIBCH 1 2 2 1 0 6
HIVEP2 1 0 4 1 0 6
HK1 3 1 2 0 0 6
HMGCL 4 1 1 0 0 6
HSPG2 1 2 2 1 0 6
IDS, LOC106050102 2 2 2 0 0 6
ITPA 5 0 1 0 0 6
IVD 3 1 2 0 0 6
L1CAM 0 3 3 0 0 6
LIPA 3 2 1 0 0 6
MAP2K1 3 2 1 0 0 6
MAPK8IP3 3 0 2 1 0 6
MBD5 1 3 2 0 0 6
MED13 0 3 3 0 0 6
MITF 2 4 0 0 0 6
MMAB 0 2 4 0 0 6
MME 3 1 2 0 0 6
MOCS1 0 2 2 2 0 6
MTHFR 1 3 2 0 0 6
MYH2, MYHAS 1 2 3 0 0 6
MYRF 1 3 2 0 0 6
MYT1L 2 3 1 0 0 6
NBAS 1 1 4 0 0 6
NNT 3 2 1 0 0 6
NPHP3, NPHP3-ACAD11 3 2 1 0 0 6
NPR2 1 3 2 0 0 6
PANK2 3 1 2 0 0 6
PC 1 1 4 0 0 6
PCNT 3 0 0 3 0 6
PHIP 1 2 3 0 0 6
PIK3R1 2 2 2 0 0 6
PLCE1 4 0 0 2 0 6
PNPLA6 0 3 3 0 0 6
PPP2R1A 3 1 2 0 0 6
PSEN1 1 2 3 0 0 6
PYGL 1 0 5 0 0 6
RAG1 0 5 1 0 0 6
RHOBTB2 1 1 3 1 0 6
RMRP 1 2 3 0 0 6
RNF213 1 0 5 0 0 6
SLC12A2 0 1 2 3 0 6
SLC12A6 3 1 1 1 0 6
SLC26A2 1 1 4 0 0 6
SLC5A1 1 1 4 0 0 6
SMARCB1 3 2 1 0 0 6
SPATA7 2 3 0 1 0 6
SPRED1 3 2 1 0 0 6
STAT3 5 1 0 0 0 6
SUCLG1 1 1 3 1 0 6
TFE3 3 1 2 0 0 6
TG 3 1 2 0 0 6
TNFRSF13B 4 1 1 0 0 6
TNNC1 1 1 4 0 0 6
TNRC6B 3 2 0 1 0 6
TP53 2 2 2 0 0 6
TP63 5 0 1 0 0 6
TRPC6 1 1 4 0 0 6
TSHR 2 2 2 0 0 6
TSPEAR 2 2 2 0 0 6
TWIST1 5 1 0 0 0 6
VPS33B 5 1 0 0 0 6
ZC4H2 1 3 2 0 0 6
ZMIZ1 0 3 3 0 0 6
AARS1 1 0 2 2 0 5
AARS2 1 2 2 0 0 5
ABCB11, LOC126806400 0 0 5 0 0 5
ABL1 1 1 3 0 0 5
ACADVL 0 2 2 1 0 5
ACAT1 2 1 2 0 0 5
ADAR 3 1 1 0 0 5
ADGRG1 3 0 2 0 0 5
ADSL 1 1 3 0 0 5
AFG2A 1 0 4 0 0 5
ALS2 1 2 2 0 0 5
ANK2 0 3 2 0 0 5
ANOS1 0 4 1 0 0 5
ARSB 2 2 0 1 0 5
ASNS, CZ1P-ASNS 0 2 3 0 0 5
ATP2B1 0 1 4 0 0 5
ATP6AP1 0 2 2 1 0 5
AXDND1, NPHS2 1 3 1 0 0 5
BBS7 3 1 1 0 0 5
C3 1 2 2 0 0 5
CAPN1 2 1 2 0 0 5
CASR 2 0 3 0 0 5
CBS 3 1 1 0 0 5
CD46 3 1 1 0 0 5
CDKN1C 1 1 3 0 0 5
CHD4 0 1 4 0 0 5
CHRNA1 1 2 1 1 0 5
CIC 0 4 1 0 0 5
CLCN5 3 0 2 0 0 5
CLCN7 1 2 2 0 0 5
CLDN19 3 2 0 0 0 5
CNTNAP2 4 0 1 0 0 5
COL4A2 1 2 2 0 0 5
CSPP1 2 1 0 2 0 5
CYP11B2, LOC106799834 3 1 1 0 0 5
CYP2U1 1 2 2 0 0 5
DCHS1 0 0 0 5 0 5
DNAH11 1 0 4 0 0 5
DOCK7 1 0 0 4 0 5
EARS2 1 1 3 0 0 5
ENTPD1 2 2 1 0 0 5
EPCAM 2 1 1 1 0 5
EPG5 3 1 0 1 0 5
ERCC2 1 1 2 1 0 5
EVC 5 0 0 0 0 5
F5 1 1 3 0 0 5
F7 2 1 2 0 0 5
FRA10AC1 3 2 0 0 0 5
FRMD7 1 2 2 0 0 5
FUCA1 2 0 3 0 0 5
GABRB2 0 3 2 0 0 5
GANAB 1 2 2 0 0 5
GBA2 2 0 3 0 0 5
GEMIN5 0 1 3 1 0 5
GHR 1 1 2 1 0 5
GLI2 1 4 0 0 0 5
GMPPB 2 2 1 0 0 5
GNAI1 0 2 2 1 0 5
GREB1L 0 3 2 0 0 5
GRIN2D 0 1 1 3 0 5
GUCA1A, GUCA1ANB-GUCA1A 2 3 0 0 0 5
GUSB 0 0 3 2 0 5
HERC1 0 0 1 4 0 5
HNF1A 1 0 4 0 0 5
INPP5E 3 0 2 0 0 5
ITGA2B 3 0 2 0 0 5
ITGB2 3 1 1 0 0 5
KCNB1 1 3 1 0 0 5
KDM5B 0 4 1 0 0 5
KIDINS220 1 1 0 3 0 5
KMT2E 1 3 1 0 0 5
KRIT1 3 2 0 0 0 5
KRT14 4 0 1 0 0 5
LOC122152296, USH2A 2 1 2 0 0 5
LOC129998021, TWIST1 1 2 2 0 0 5
LONP1 0 1 2 2 0 5
MAN2B1 1 2 1 1 0 5
MAP1B 1 4 0 0 0 5
MAP2K2 2 2 0 1 0 5
MAPRE2 0 2 3 0 0 5
MCPH1 2 0 2 1 0 5
MKKS 3 0 1 1 0 5
MN1 1 4 0 0 0 5
MPDZ 2 1 0 2 0 5
MPL 1 3 1 0 0 5
MPV17 2 1 2 0 0 5
MYCN 1 3 1 0 0 5
MYH7B 0 2 3 0 0 5
MYL3 1 2 2 0 0 5
MYORG 0 0 4 1 0 5
NDP 0 2 3 0 0 5
NF2 1 3 0 1 0 5
NFIA 1 4 0 0 0 5
NKX2-1, SFTA3 2 3 0 0 0 5
NPHP1 3 2 0 0 0 5
NPHP4 1 2 1 1 0 5
NSUN2 1 1 3 0 0 5
NTRK2 1 2 2 0 0 5
NUP107 1 2 2 0 0 5
OGDHL 0 2 3 0 0 5
OPHN1 2 2 1 0 0 5
OTOG 2 2 1 0 0 5
PGAP3 3 1 1 0 0 5
PIEZO1 2 0 3 0 0 5
PIGN 2 2 0 1 0 5
PLOD2 1 1 2 1 0 5
POLA1 1 0 4 0 0 5
POLE 0 2 3 0 0 5
POMGNT1, TSPAN1 2 2 1 0 0 5
PPP2R5D 2 3 0 0 0 5
PPP3CA 2 0 3 0 0 5
PQBP1 2 0 3 0 0 5
PRG4 5 0 0 0 0 5
PRNP 3 1 1 0 0 5
PRR12 0 4 0 1 0 5
PUF60 3 1 1 0 0 5
PYCR1 1 3 1 0 0 5
PYGM 3 2 0 0 0 5
RAI1 0 3 0 2 0 5
RALA 1 2 2 0 0 5
REEP6 2 1 2 0 0 5
RERE 2 2 1 0 0 5
RLIM 0 0 4 1 0 5
RP1L1 0 5 0 0 0 5
SDHB 4 0 1 0 0 5
SEC23B 1 1 3 0 0 5
SEMA6B 1 4 0 0 0 5
SGCG 3 0 2 0 0 5
SIL1 3 1 1 0 0 5
SKIC2 1 0 0 4 0 5
SLC26A3 2 2 1 0 0 5
SLC2A2 3 1 0 1 0 5
SLC37A4 2 0 3 0 0 5
SLC4A11 2 1 2 0 0 5
SLITRK2 0 0 5 0 0 5
SMARCC2 0 1 4 0 0 5
SMS 0 2 3 0 0 5
SPTA1 3 1 1 0 0 5
SPTBN4 0 2 0 3 0 5
SRD5A2 3 1 1 0 0 5
STAR 5 0 0 0 0 5
STIL 0 1 1 3 0 5
STXBP2 2 1 2 0 0 5
TBR1 1 2 1 1 0 5
TBX5 3 2 0 0 0 5
TCF3 0 1 0 4 0 5
TGFB3 1 2 2 0 0 5
TJP2 2 0 1 2 0 5
TRAF7 2 0 3 0 0 5
TRIOBP 3 1 1 0 0 5
TRPS1 3 2 0 0 0 5
TUBB 2 0 3 0 0 5
TUBGCP6 0 2 3 0 0 5
UBE3B 4 1 0 0 0 5
UROS 0 2 3 0 0 5
VDR 2 1 2 0 0 5
VPS13A 3 0 1 1 0 5
VPS13D 1 2 2 0 0 5
VRK1 1 2 2 0 0 5
WRN 2 1 0 2 0 5
AAAS 3 0 1 0 0 4
ACADS 1 2 1 0 0 4
ACP5 1 2 1 0 0 4
ACTG2 2 1 1 0 0 4
ACTN2 0 1 3 0 0 4
ACTN4 0 1 3 0 0 4
ADA 0 3 1 0 0 4
ADAMTS10 1 0 0 3 0 4
ADGRL1 0 1 3 0 0 4
AGO2 0 1 2 1 0 4
AIFM1, RAB33A 0 1 3 0 0 4
AIRE 3 0 1 0 0 4
AKT3 2 1 1 0 0 4
ALG12 1 1 2 0 0 4
ALOX12B 2 1 1 0 0 4
AMER1 2 2 0 0 0 4
APTX 0 2 2 0 0 4
ARID1A 0 3 1 0 0 4
ARL6 0 1 3 0 0 4
ATP8B1 3 0 0 1 0 4
B3GALT6 0 1 3 0 0 4
BCOR 0 3 1 0 0 4
BICD2 1 2 1 0 0 4
BLOC1S1-RDH5, CD63, RDH5 2 2 0 0 0 4
BMPR1A 1 1 2 0 0 4
BRPF1 2 2 0 0 0 4
BSCL2, HNRNPUL2-BSCL2 3 0 1 0 0 4
C12orf57, RNU7-1 0 3 1 0 0 4
C19orf12 1 3 0 0 0 4
CA2 2 1 1 0 0 4
CACNA1E 1 1 2 0 0 4
CACNA1G 0 0 4 0 0 4
CACNA2D2 3 0 0 1 0 4
CARMIL2 0 2 2 0 0 4
CBL 2 1 1 0 0 4
CCDC39 3 1 0 0 0 4
CCDC40 1 2 1 0 0 4
CCN6 4 0 0 0 0 4
CCNH, RASA1 1 3 0 0 0 4
CDC42BPB 1 0 3 0 0 4
CEP78 2 0 2 0 0 4
CFAP410 2 1 1 0 0 4
CHAT 2 2 0 0 0 4
CHD5 0 1 3 0 0 4
CLCN5, LOC126863258 0 3 1 0 0 4
CNGA1, LOC101927157 2 0 2 0 0 4
CNOT3 0 2 2 0 0 4
CNTNAP1 0 0 2 2 0 4
COLQ 4 0 0 0 0 4
COQ6, ENTPD5 2 0 2 0 0 4
CRB2 1 0 3 0 0 4
CRTAP 1 1 1 1 0 4
CWF19L1 3 1 0 0 0 4
CYBB 2 0 2 0 0 4
DARS2 2 1 1 0 0 4
DCLRE1C 2 1 1 0 0 4
DDC 2 1 1 0 0 4
DGKE 2 0 2 0 0 4
DGUOK 1 1 2 0 0 4
DHX30 2 1 0 1 0 4
DLG4, LOC126862479 1 1 2 0 0 4
DNA2 0 1 3 0 0 4
DNM1, LOC113839516 1 0 3 0 0 4
DST 3 1 0 0 0 4
DUOXA2 3 1 0 0 0 4
EBP 1 2 1 0 0 4
ELANE 0 1 3 0 0 4
ELN 1 3 0 0 0 4
ENG 2 1 1 0 0 4
EPHB4 1 2 1 0 0 4
ERBB2 0 0 1 3 0 4
ERF 4 0 0 0 0 4
F11 3 1 0 0 0 4
FA2H 2 0 2 0 0 4
FAR1 2 0 2 0 0 4
FAT4 0 0 0 4 0 4
FCSK 1 1 2 0 0 4
FERMT1 3 0 0 1 0 4
FKTN 0 2 2 0 0 4
FZD4, PRSS23 0 3 1 0 0 4
GABBR1 0 0 4 0 0 4
GAREM2, HADHA 1 2 1 0 0 4
GFPT1 2 1 1 0 0 4
GJA1 0 3 1 0 0 4
GJA8 2 1 1 0 0 4
GLUD1 1 0 3 0 0 4
GNS 0 0 0 4 0 4
GPHN, RDH12, ZFYVE26 2 1 1 0 0 4
GRIK2 1 0 3 0 0 4
GRM6, ZNF454 1 0 3 0 0 4
GZF1 2 1 1 0 0 4
H1-4 2 2 0 0 0 4
H3-3A 1 2 1 0 0 4
HADHB 0 1 3 0 0 4
HBA-LCR, NPRL3 2 2 0 0 0 4
HBA2, LOC106804612 3 1 0 0 0 4
HBB, LOC107133510, LOC110006319 1 2 1 0 0 4
HECW2 1 3 0 0 0 4
HNF4A 1 2 1 0 0 4
HOGA1 2 1 1 0 0 4
HPGD 2 0 1 1 0 4
HSD17B3, SLC35D2-HSD17B3 2 0 2 0 0 4
HSF4 2 0 2 0 0 4
HTRA1 2 1 1 0 0 4
IBA57 2 0 2 0 0 4
IFIH1 2 1 1 0 0 4
IFT122 1 1 2 0 0 4
IL12RB1 4 0 0 0 0 4
INVS 2 0 1 1 0 4
IQCB1 3 1 0 0 0 4
KARS1 1 0 3 0 0 4
KCNC2 0 1 3 0 0 4
KCND2 1 1 2 0 0 4
KCNJ1 1 1 2 0 0 4
KCTD7 1 0 3 0 0 4
KIF12 0 3 1 0 0 4
KRT9 1 2 1 0 0 4
LAMB3 3 1 0 0 0 4
LARS1 0 1 2 1 0 4
LIFR 3 0 0 1 0 4
LIPH 1 3 0 0 0 4
LOC108281177, SOX2, SOX2-OT 3 1 0 0 0 4
LOC126807619, NSD1 1 3 0 0 0 4
LOC126859690, PKHD1 0 3 1 0 0 4
LOC126859827, TAB2 1 3 0 0 0 4
LOC126860392, RP1 1 2 1 0 0 4
LTBP2 1 0 2 1 0 4
LTBP4 1 1 0 2 0 4
MACF1 0 2 2 0 0 4
MADD 2 0 1 1 0 4
MC2R 0 3 1 0 0 4
MC4R 1 2 1 0 0 4
MCCC1 4 0 0 0 0 4
MEFV 2 0 1 0 1 4
MEIS2 1 2 1 0 0 4
MHRT, MYH7 0 3 1 0 0 4
MKS1 0 3 1 0 0 4
MLH1 2 1 1 0 0 4
MYBPC1 1 1 1 1 0 4
MYH6 0 0 4 0 0 4
MYL2 1 0 3 0 0 4
MYO6 1 0 3 0 0 4
NARS1 1 0 3 0 0 4
NAXE 2 2 0 0 0 4
NCF2 2 0 1 1 0 4
NDRG1 2 1 1 0 0 4
NDUFS1 0 0 4 0 0 4
NLRP1 0 0 4 0 0 4
NOD2 1 0 3 0 0 4
NOTCH1 1 2 1 0 0 4
NR4A2 1 2 1 0 0 4
NUP133 0 2 2 0 0 4
ORC1 1 2 0 1 0 4
OTX2 2 1 1 0 0 4
PALB2 4 0 0 0 0 4
PAX3 0 3 1 0 0 4
PBX1 0 4 0 0 0 4
PCSK9 1 2 1 0 0 4
PEX12 1 1 2 0 0 4
PEX6 1 2 1 0 0 4
PHF21A 3 1 0 0 0 4
PHKG2 2 1 1 0 0 4
PIGA 0 2 2 0 0 4
PIGT 3 0 1 0 0 4
PIK3R2 1 1 2 0 0 4
PLP1, RAB9B 1 1 2 0 0 4
PNKP 1 0 3 0 0 4
PNPT1 1 3 0 0 0 4
POC1B, POC1B-DUSP6 2 0 2 0 0 4
PPP2R5C 0 3 1 0 0 4
PRKAG2 2 0 2 0 0 4
PROC 2 1 1 0 0 4
RAB3GAP1 3 0 1 0 0 4
RARS2 2 1 1 0 0 4
RECQL4 2 1 0 1 0 4
RNASEH2A 0 2 2 0 0 4
RNF170 0 2 2 0 0 4
ROBO1 0 3 0 1 0 4
RORB 0 1 3 0 0 4
RPGRIP1 3 0 1 0 0 4
RPS19 1 2 1 0 0 4
RRM2B 1 1 2 0 0 4
RS1 1 3 0 0 0 4
RTTN 1 0 2 1 0 4
SAMD9 0 3 1 0 0 4
SERAC1 2 0 1 1 0 4
SERPINB7 4 0 0 0 0 4
SERPING1 2 0 2 0 0 4
SFTPC 1 1 2 0 0 4
SLC19A3 2 1 1 0 0 4
SLC24A1 2 2 0 0 0 4
SLC25A4 0 0 4 0 0 4
SLC5A2 0 0 4 0 0 4
SLC7A7 2 0 2 0 0 4
SMPD4 1 2 1 0 0 4
SNAP25 0 2 2 0 0 4
SNX14 1 2 1 0 0 4
SOX5 0 3 1 0 0 4
SPEN 1 3 0 0 0 4
STAG1 1 2 0 1 0 4
STK11 2 0 2 0 0 4
STUB1 0 1 3 0 0 4
SUCLA2 2 0 2 0 0 4
SUOX 3 0 1 0 0 4
SUZ12 1 2 0 1 0 4
TBCE 3 1 0 0 0 4
TFAP2A 2 1 1 0 0 4
TGFB2 2 2 0 0 0 4
TNNI2 2 2 0 0 0 4
TPM2 2 0 2 0 0 4
TRIP12 1 3 0 0 0 4
TRPM3 1 0 3 0 0 4
TTC21B 3 1 0 0 0 4
TUBB2B 2 0 2 0 0 4
TUBG1 2 1 1 0 0 4
UGDH 1 1 2 0 0 4
VARS1 0 1 3 0 0 4
VARS2 1 1 2 0 0 4
VWA1 1 3 0 0 0 4
WARS1 0 3 1 0 0 4
WDR11 0 2 2 0 0 4
WDR19 1 1 2 0 0 4
WWOX 1 2 1 0 0 4
XPA 4 0 0 0 0 4
XPC 4 0 0 0 0 4
ZBTB7A 1 3 0 0 0 4
ZNF462 0 3 1 0 0 4
ABHD16A 3 0 0 0 0 3
ACO2 0 0 3 0 0 3
ACOX1 1 0 2 0 0 3
ADAMTS13 3 0 0 0 0 3
ADNP, DPM1 1 0 2 0 0 3
ADPRS 2 1 0 0 0 3
AGPAT2 2 0 1 0 0 3
ALB 0 1 2 0 0 3
ALDH4A1 2 0 0 1 0 3
ALG3 0 1 2 0 0 3
ALG8 1 1 1 0 0 3
ALPL 0 2 1 0 0 3
AMN 0 1 2 0 0 3
ANKS6 0 0 2 1 0 3
ANO10 2 1 0 0 0 3
ANO3 2 0 1 0 0 3
ANTXR2 2 0 1 0 0 3
AP1G1 1 0 2 0 0 3
AP3B1 2 0 0 1 0 3
AP3B2, CPEB1 0 1 1 1 0 3
AP4B1 2 1 0 0 0 3
AP4S1 3 0 0 0 0 3
APOB 2 1 0 0 0 3
AQP2, AQP5 2 0 1 0 0 3
ARCN1 0 2 0 1 0 3
ARMC9 1 0 2 0 0 3
ARV1 2 0 1 0 0 3
ASXL2 0 3 0 0 0 3
ATP13A2 2 0 0 1 0 3
ATP1A1 1 1 1 0 0 3
ATP6V1A 0 0 3 0 0 3
ATRIP, ATRIP-TREX1, TREX1 0 3 0 0 0 3
ATXN2, LOC130008791 0 2 1 0 0 3
BBS1, ZDHHC24 2 0 1 0 0 3
BBS12 1 0 2 0 0 3
BCL11A 1 2 0 0 0 3
BEST1, FTH1 2 0 1 0 0 3
BICRA 1 2 0 0 0 3
BIVM-ERCC5, ERCC5 2 0 1 0 0 3
BRD4 0 2 1 0 0 3
BRF1 2 0 1 0 0 3
C10orf105, CDH23 2 0 1 0 0 3
C1QTNF5, MFRP 2 1 0 0 0 3
CACNA1A, LOC126862864 1 1 1 0 0 3
CACNA1H 0 0 2 1 0 3
CANT1 2 1 0 0 0 3
CCM2 2 1 0 0 0 3
CDK13, LOC129998292 1 2 0 0 0 3
CEP104 0 0 0 3 0 3
CEP152 2 0 0 1 0 3
CEP83 0 1 1 1 0 3
CFAP418 0 1 2 0 0 3
CFI 1 0 2 0 0 3
CHAMP1 0 3 0 0 0 3
CHD1 0 0 3 0 0 3
CHD7, LOC126860403 2 0 0 1 0 3
CHRNE, LOC130060041 2 1 0 0 0 3
CHST14 1 1 1 0 0 3
CLPB 1 1 1 0 0 3
COG1 0 0 1 2 0 3
COG5 1 1 0 1 0 3
COQ7 1 1 1 0 0 3
COX20 0 0 3 0 0 3
CPAMD8 1 2 0 0 0 3
CPAP 0 2 1 0 0 3
CPAP, RNF17 0 2 1 0 0 3
CPT1A 1 0 2 0 0 3
CTLA4 2 1 0 0 0 3
CTNNB1, LOC126806658 2 1 0 0 0 3
CTNND1, TMX2-CTNND1 0 3 0 0 0 3
CTSA 2 0 1 0 0 3
CUX1 0 1 2 0 0 3
CYB5R3 1 0 2 0 0 3
DCDC2 3 0 0 0 0 3
DDB2 1 0 2 0 0 3
DHX37 1 0 0 2 0 3
DIAPH1 2 0 0 1 0 3
DKC1 0 0 2 1 0 3
DOHH 0 2 1 0 0 3
DRAM2 0 0 3 0 0 3
DYM 3 0 0 0 0 3
ECHS1 2 1 0 0 0 3
EEF1D 1 2 0 0 0 3
EFL1 0 1 2 0 0 3
EFNB1 1 1 1 0 0 3
EIF2AK3 1 0 0 2 0 3
EIF2B4, GTF3C2 0 1 2 0 0 3
EIF4A2 1 1 1 0 0 3
ELP2 0 1 2 0 0 3
EMC1 0 1 1 1 0 3
ERCC8 2 0 1 0 0 3
ESCO2 2 0 0 1 0 3
ESPN 2 1 0 0 0 3
FA2H, LOC130059394 2 0 1 0 0 3
FAM111A 1 0 1 1 0 3
FAM161A 3 0 0 0 0 3
FANCA, ZNF276 3 0 0 0 0 3
FANCG 2 0 1 0 0 3
FARS2 0 2 1 0 0 3
FBXL4 2 1 0 0 0 3
FBXW7 0 1 2 0 0 3
FGF14 0 1 2 0 0 3
FHL1 2 1 0 0 0 3
FHOD3 1 0 2 0 0 3
FOLR1 1 1 1 0 0 3
FOXC2 0 2 1 0 0 3
FOXE3, LINC01389 1 1 1 0 0 3
FUS 2 1 0 0 0 3
GALK1 1 0 2 0 0 3
GATA4 0 2 1 0 0 3
GCDH, LOC126862860, SYCE2 1 2 0 0 0 3
GDF5 1 2 0 0 0 3
GDI1 0 2 0 1 0 3
GFM1 1 1 1 0 0 3
GFM2 0 2 1 0 0 3
GLRA1 0 1 2 0 0 3
GLRA2 0 1 2 0 0 3
GNB2 2 0 1 0 0 3
GNB5 3 0 0 0 0 3
GNPTG 2 0 1 0 0 3
GPC3 0 1 1 1 0 3
GPD1 2 0 1 0 0 3
GRHPR 1 1 1 0 0 3
GRIA1 1 0 2 0 0 3
GRK1 1 1 1 0 0 3
GUCY2C 0 0 3 0 0 3
H3-3B 0 2 1 0 0 3
HAL 0 1 2 0 0 3
HAX1 1 1 0 1 0 3
HCFC1 0 0 3 0 0 3
HCN1 1 0 1 1 0 3
HCN2 0 0 3 0 0 3
HGD 0 2 1 0 0 3
HMBS 2 1 0 0 0 3
HPRT1 2 0 1 0 0 3
HR 1 0 2 0 0 3
HRAS, LRRC56 2 1 0 0 0 3
HSD3B7 2 0 1 0 0 3
HYCC1 2 1 0 0 0 3
HYDIN 0 1 2 0 0 3
IFNGR1 2 0 1 0 0 3
IFT140 2 1 0 0 0 3
IFT140, LOC105371046 2 1 0 0 0 3
IHH 1 1 1 0 0 3
IKBKG 1 2 0 0 0 3
IL7R 2 0 1 0 0 3
ILDR1 2 1 0 0 0 3
IMPDH1 1 0 2 0 0 3
IRAK1BP1, PHIP 0 2 1 0 0 3
ITGB3 2 0 1 0 0 3
JARID2 0 2 1 0 0 3
KCNA3 0 0 3 0 0 3
KCNC1 1 1 1 0 0 3
KCNC3 2 0 1 0 0 3
KCND3 0 2 1 0 0 3
KCNJ11 1 1 1 0 0 3
KCNJ2 1 1 1 0 0 3
KCNN2 0 1 2 0 0 3
KCNT2 0 2 1 0 0 3
KCNV2 1 0 2 0 0 3
KDM3B 1 1 1 0 0 3
KDM6B 1 2 0 0 0 3
KDM6B, LOC121587574 0 1 2 0 0 3
KIF7 0 1 1 1 0 3
KLHL20 0 1 2 0 0 3
KLHL24 0 0 3 0 0 3
KLHL40 2 1 0 0 0 3
KMT2A, TTC36 0 3 0 0 0 3
KNL1 0 0 1 2 0 3
KRT10 2 1 0 0 0 3
KRT5 0 3 0 0 0 3
LAMP2 1 1 1 0 0 3
LARS2 0 1 1 1 0 3
LMAN2L 0 0 3 0 0 3
LMBRD2 0 2 1 0 0 3
LMNB1 1 1 1 0 0 3
LMX1B 1 0 1 1 0 3
LOC100507346, PTCH1 1 1 1 0 0 3
LOC107303340, VHL 1 0 2 0 0 3
LOC108021846, SOX9 0 1 2 0 0 3
LOC111811965, MIR4733HG, NF1 2 0 1 0 0 3
LOC126861110, TALDO1 2 0 1 0 0 3
LOC126861242, NDUFV1 2 1 0 0 0 3
LOC126861896, MYH6 0 1 2 0 0 3
LOC126861897, MHRT, MYH7 1 0 2 0 0 3
LOC130068202, RP2 0 2 1 0 0 3
LPIN1 2 1 0 0 0 3
LRTOMT, TOMT 1 0 2 0 0 3
MAK 2 0 1 0 0 3
MAN2C1 1 2 0 0 0 3
MANBA 0 1 0 2 0 3
MAP3K7 2 0 1 0 0 3
MASP1 0 1 1 1 0 3
MC1R 0 0 3 0 0 3
MCCC2 1 1 1 0 0 3
MCOLN1 3 0 0 0 0 3
MDH2 0 0 0 3 0 3
MED27 0 2 1 0 0 3
MID1 0 2 0 1 0 3
MIPEP 0 0 1 2 0 3
MOGS 0 0 0 3 0 3
MPIG6B 1 1 1 0 0 3
MPZL2 2 1 0 0 0 3
MSH2 1 0 2 0 0 3
MSH6 1 1 1 0 0 3
MT-ND1 1 2 0 0 0 3
MT-ND6 2 1 0 0 0 3
MTMR2 2 0 1 0 0 3
MVK 1 1 1 0 0 3
MYO18B 1 2 0 0 0 3
NACC1 1 1 0 1 0 3
NAXD 0 3 0 0 0 3
NDUFS4 1 1 1 0 0 3
NDUFV1 0 0 2 1 0 3
NEDD4L 0 1 2 0 0 3
NEU1 1 0 2 0 0 3
NEUROG3 0 1 1 1 0 3
NFKB1 2 0 1 0 0 3
NHS 0 3 0 0 0 3
NPHP3-ACAD11, UBA5 2 0 1 0 0 3
NR0B1 0 2 1 0 0 3
NR2F2 1 0 2 0 0 3
NRCAM 0 0 3 0 0 3
NUP93 0 0 3 0 0 3
NUS1 0 3 0 0 0 3
OTOA 1 1 1 0 0 3
OTOF 1 1 1 0 0 3
OTOGL 3 0 0 0 0 3
OXCT1 1 1 1 0 0 3
P3H2 3 0 0 0 0 3
PCDH15 3 0 0 0 0 3
PDZD7 1 1 1 0 0 3
PEX1 2 0 1 0 0 3
PEX7 2 0 1 0 0 3
PGM1 3 0 0 0 0 3
PHKB 3 0 0 0 0 3
PI4KA 0 0 3 0 0 3
PIDD1 1 0 1 1 0 3
PIGG 2 1 0 0 0 3
PIGL 1 1 1 0 0 3
PIGQ 0 0 1 2 0 3
PLOD1 1 1 1 0 0 3
PNPLA1 0 1 1 1 0 3
POC1A 1 1 0 1 0 3
POLG, POLGARF 0 1 2 0 0 3
POLR1B 0 0 3 0 0 3
POLR3B, RFX4 0 1 2 0 0 3
POLRMT 1 0 2 0 0 3
POU1F1 1 2 0 0 0 3
POU4F3, RBM27-POU4F3 1 1 1 0 0 3
PREPL, SLC3A1 0 1 2 0 0 3
PRKAR1A 1 1 1 0 0 3
PRKCG 0 0 3 0 0 3
PRMT7 1 0 1 1 0 3
PROP1 2 1 0 0 0 3
PRSS56 2 0 1 0 0 3
PSAP 1 1 1 0 0 3
PTCHD1 0 1 1 1 0 3
QDPR 1 0 2 0 0 3
RAC1 1 1 1 0 0 3
RARB 1 1 1 0 0 3
RARS1 1 1 1 0 0 3
RBBP8 0 1 0 2 0 3
RET 1 1 1 0 0 3
RFT1 1 1 1 0 0 3
RFX7 0 1 2 0 0 3
RIN2 0 0 0 3 0 3
ROGDI 2 0 1 0 0 3
RORA 0 2 0 1 0 3
RPL13 1 0 2 0 0 3
RUSC2 0 0 0 3 0 3
SAG 2 0 1 0 0 3
SALL1 2 1 0 0 0 3
SAMHD1 1 0 2 0 0 3
SASH1 0 3 0 0 0 3
SATB1 2 1 0 0 0 3
SBDS 2 0 1 0 0 3
SCNN1A 1 0 1 1 0 3
SCUBE3 0 1 2 0 0 3
SDHA 1 1 1 0 0 3
SERPINF1 1 2 0 0 0 3
SFTPA1 0 0 3 0 0 3
SGCB 2 0 1 0 0 3
SH3PXD2B 0 0 0 3 0 3
SHANK2 1 1 1 0 0 3
SHQ1 0 0 3 0 0 3
SIX1 0 2 1 0 0 3
SLC10A1 0 2 1 0 0 3
SLC1A4 1 1 1 0 0 3
SLC25A13 2 0 0 1 0 3
SLC25A22 1 0 2 0 0 3
SLC34A3 1 1 1 0 0 3
SLC52A3 0 1 2 0 0 3
SLC6A8 0 0 2 1 0 3
SLC9A3 0 0 0 3 0 3
SLX4 1 0 0 2 0 3
SMAD4 3 0 0 0 0 3
SNAPC4 0 2 1 0 0 3
SOCS1 1 0 2 0 0 3
SOX11 0 3 0 0 0 3
SOX4 0 0 3 0 0 3
SPART 1 2 0 0 0 3
SQSTM1 2 0 1 0 0 3
ST3GAL3 0 0 1 2 0 3
STAT6 0 1 2 0 0 3
STRC 2 0 1 0 0 3
SUPT16H 0 2 1 0 0 3
SYNE1 1 0 2 0 0 3
SYNJ1 0 0 1 2 0 3
SYT1 1 1 1 0 0 3
TAF4 1 2 0 0 0 3
TBC1D23 2 0 1 0 0 3
TCN2 1 1 1 0 0 3
TET3 1 1 1 0 0 3
TGFBI 1 2 0 0 0 3
TMEM151A 0 1 2 0 0 3
TMEM260 2 0 1 0 0 3
TMEM43 1 1 1 0 0 3
TMEM70 1 0 1 1 0 3
TMPRSS9 0 2 1 0 0 3
TNXB 1 1 0 1 0 3
TPM3 0 1 2 0 0 3
TPO 1 1 1 0 0 3
TRAPPC11 1 0 2 0 0 3
TRAPPC12 0 2 1 0 0 3
TSEN54 2 0 0 1 0 3
TUBB2A 2 0 1 0 0 3
UNC79 0 1 2 0 0 3
VLDLR 0 3 0 0 0 3
WDR26 0 2 1 0 0 3
WDR73 0 1 1 1 0 3
WNT1 0 1 2 0 0 3
WNT10B 1 1 1 0 0 3
ZDHHC9 0 0 2 1 0 3
ZNF142 2 1 0 0 0 3
ZSWIM6 1 0 2 0 0 3
ABCA2 2 0 0 0 0 2
ABCA3 0 1 1 0 0 2
ABCC9, KCNJ8 0 1 1 0 0 2
ABHD5 1 0 1 0 0 2
ACBD6, LHX4 0 0 2 0 0 2
ACE 1 0 1 0 0 2
ADAM17, IAH1 0 2 0 0 0 2
ADARB1 0 0 2 0 0 2
ADH5 2 0 0 0 0 2
ADSS1 2 0 0 0 0 2
AFF3 0 1 1 0 0 2
AFG2B 0 1 1 0 0 2
AGA 2 0 0 0 0 2
AGO2, LOC126860545 1 0 1 0 0 2
AGPS 2 0 0 0 0 2
AGXT 2 0 0 0 0 2
AICDA 1 1 0 0 0 2
AIMP1 2 0 0 0 0 2
AKT1 0 0 2 0 0 2
ALDH3A2 1 1 0 0 0 2
ALG11 0 0 2 0 0 2
ALG13 0 0 1 1 0 2
ALG2 0 1 1 0 0 2
ALOXE3 0 0 2 0 0 2
AMHR2 1 0 1 0 0 2
ANO1 0 1 1 0 0 2
ANXA11 1 0 1 0 0 2
AP1S2 0 2 0 0 0 2
AP2S1 1 1 0 0 0 2
AP4E1 1 0 1 0 0 2
APC2 0 2 0 0 0 2
APRT 1 1 0 0 0 2
AQP2 1 0 1 0 0 2
ARFGEF2 1 1 0 0 0 2
ARL13B 1 0 1 0 0 2
ARMC5 0 0 2 0 0 2
ARSG 0 2 0 0 0 2
ARSL 1 1 0 0 0 2
ASAH1 2 0 0 0 0 2
ASCC1 2 0 0 0 0 2
ASIC4, GMPPA 1 0 0 1 0 2
ASIC4, SPEG 0 0 2 0 0 2
ATG7 1 1 0 0 0 2
ATN1 0 1 1 0 0 2
ATP2B2 0 2 0 0 0 2
ATP5MK 2 0 0 0 0 2
B3GALNT2 0 2 0 0 0 2
B3GLCT 1 0 1 0 0 2
BBS5 0 1 1 0 0 2
BBS9 0 0 2 0 0 2
BMP1 0 1 0 1 0 2
BMPER 0 0 1 1 0 2
BMPR2 1 0 1 0 0 2
BRIP1 0 0 2 0 0 2
BRSK2 0 2 0 0 0 2
BRWD3 0 1 1 0 0 2
BUB1B 1 1 0 0 0 2
C12orf57 1 1 0 0 0 2
C2CD3, LOC126861262 0 0 0 2 0 2
C7 1 1 0 0 0 2
CACNA1I 0 0 2 0 0 2
CACNA1S 2 0 0 0 0 2
CACNA2D2, LOC101928965, LOC127898564 0 0 0 2 0 2
CAD 0 0 2 0 0 2
CAMK2G 0 1 1 0 0 2
CARD11 0 0 1 1 0 2
CARS1 0 0 2 0 0 2
CAST, LOC101929710, PCSK1 0 2 0 0 0 2
CCBE1 0 0 1 1 0 2
CCDC47 0 1 1 0 0 2
CCDC88C 0 0 0 2 0 2
CCND2 1 1 0 0 0 2
CCNO 1 0 1 0 0 2
CCNO, LOC129993895 2 0 0 0 0 2
CD2AP 1 1 0 0 0 2
CDAN1 1 0 0 1 0 2
CDC42 1 0 1 0 0 2
CDHR1 0 1 1 0 0 2
CDK10 1 0 1 0 0 2
CEP135 1 1 0 0 0 2
CEP295 0 1 1 0 0 2
CERS1, GDF1 1 1 0 0 0 2
CFTR, LOC111674472 0 1 1 0 0 2
CFTR, LOC111674475 1 1 0 0 0 2
CHKB, CHKB-CPT1B 1 1 0 0 0 2
CHRNE 1 1 0 0 0 2
CHROMR, PRKRA 0 2 0 0 0 2
CHST3 1 1 0 0 0 2
CKAP2L 1 0 0 1 0 2
CLPP 1 0 1 0 0 2
CLRN1 1 0 1 0 0 2
CNOT1 0 2 0 0 0 2
CNTN6 0 0 2 0 0 2
COA7 0 2 0 0 0 2
COA8 1 1 0 0 0 2
COCH 0 0 2 0 0 2
COG4 1 0 1 0 0 2
COL10A1, NT5DC1 0 1 1 0 0 2
COL18A1 0 0 0 2 0 2
COL18A1, SLC19A1 1 0 1 0 0 2
COL4A3, LOC129935730 1 1 0 0 0 2
COL5A1, LOC101448202 0 1 1 0 0 2
COL5A2 1 1 0 0 0 2
COL9A2 0 2 0 0 0 2
COL9A3 0 1 1 0 0 2
COPA 0 2 0 0 0 2
COQ5 0 1 1 0 0 2
COQ6 1 0 1 0 0 2
COQ7, COQ7-DT, LOC130058587 0 2 0 0 0 2
COX15 0 1 1 0 0 2
CP 1 0 1 0 0 2
CRLF1 2 0 0 0 0 2
CRLF1, LOC112543470 2 0 0 0 0 2
CRYBB2 1 0 1 0 0 2
CSDE1 0 1 1 0 0 2
CSRP3 0 0 2 0 0 2
CTSF 1 1 0 0 0 2
CTSK 1 0 1 0 0 2
CWC27 2 0 0 0 0 2
CYGB, PRCD 2 0 0 0 0 2
CYP17A1 2 0 0 0 0 2
CYP19A1, MIR4713HG, PIRC66 1 1 0 0 0 2
CYP1B1, LOC128772254 1 1 0 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 0 2
CYP24A1 0 1 1 0 0 2
CYP26C1 1 0 1 0 0 2
CYP4F22 2 0 0 0 0 2
CYP7B1 0 1 0 1 0 2
DARS1 0 0 2 0 0 2
DDHD2 2 0 0 0 0 2
DDX11 1 0 1 0 0 2
DENND5A 0 1 0 1 0 2
DHODH 0 1 1 0 0 2
DICER1 0 2 0 0 0 2
DIS3L2 0 1 0 1 0 2
DLL1 0 1 1 0 0 2
DMAP1 0 0 2 0 0 2
DNAI1 2 0 0 0 0 2
DNAI2 0 2 0 0 0 2
DNAJC21 0 1 1 0 0 2
DNASE1L3 0 0 2 0 0 2
DNMT1 1 0 1 0 0 2
DOCK11 0 1 1 0 0 2
DOCK8 0 0 1 1 0 2
DPAGT1 1 1 0 0 0 2
DPYS 0 0 2 0 0 2
DVL3 0 1 0 1 0 2
DYNC2I1 0 1 1 0 0 2
ECHS1, LOC130005023 0 1 1 0 0 2
ECM1 2 0 0 0 0 2
EDNRB 0 1 1 0 0 2
EED 1 0 1 0 0 2
ELAC2 0 1 1 0 0 2
ELMO2 2 0 0 0 0 2
ELOVL4 1 1 0 0 0 2
ELOVL5 0 0 2 0 0 2
EMC10 1 1 0 0 0 2
EMD 0 1 1 0 0 2
ENG, LOC102723566 1 1 0 0 0 2
EPRS1 0 0 1 1 0 2
ERCC6, LOC126860933 0 2 0 0 0 2
ERLIN2 0 0 2 0 0 2
ERMARD 0 0 2 0 0 2
ESRRB 1 0 1 0 0 2
EXOSC3 2 0 0 0 0 2
EXOSC5 0 1 1 0 0 2
EYA1 1 1 0 0 0 2
F13A1 1 0 1 0 0 2
FAM20C 0 0 1 1 0 2
FANCA, LOC130059837 1 1 0 0 0 2
FAS 0 1 1 0 0 2
FASTKD2 0 1 0 1 0 2
FBN1, LOC113939944 1 1 0 0 0 2
FECH 0 1 1 0 0 2
FGF3, LOC109115964 0 1 1 0 0 2
FIG4 1 1 0 0 0 2
FIGLA 0 1 1 0 0 2
FMO3 0 2 0 0 0 2
FMR1 0 2 0 0 0 2
FN1 1 0 1 0 0 2
FOXF1 1 1 0 0 0 2
FOXP3 0 0 2 0 0 2
FOXP4 0 0 2 0 0 2
FRYL 0 2 0 0 0 2
FUT8 0 1 1 0 0 2
FZD6 2 0 0 0 0 2
G6PC3, LOC130060959 2 0 0 0 0 2
GALC, LOC130056217 2 0 0 0 0 2
GALE 1 1 0 0 0 2
GATM 0 0 2 0 0 2
GBF1 0 0 2 0 0 2
GCM2 0 1 1 0 0 2
GDAP1, LOC130000622 0 0 2 0 0 2
GFAP, LOC130060994 1 0 1 0 0 2
GH-LCR, GH1 2 0 0 0 0 2
GIGYF2, KCNJ13 0 1 1 0 0 2
GJB3 0 0 2 0 0 2
GLE1 0 0 0 2 0 2
GOLGA2 2 0 0 0 0 2
GP1BB, SEPT5-GP1BB 0 2 0 0 0 2
GPHN 0 0 0 2 0 2
GPI 0 1 1 0 0 2
GPSM2 0 1 0 1 0 2
GPT2 0 1 1 0 0 2
GSN 1 1 0 0 0 2
H4C5 1 0 1 0 0 2
HACE1 1 0 1 0 0 2
HBA1, LOC106804613 1 1 0 0 0 2
HCN4 0 1 1 0 0 2
HDAC4 1 0 1 0 0 2
HERC2 0 1 1 0 0 2
HFE 2 0 0 0 0 2
HID1 0 0 2 0 0 2
HINT1 2 0 0 0 0 2
HLCS 0 1 1 0 0 2
HMGA2 0 1 1 0 0 2
HOXD13 1 0 1 0 0 2
HPD 1 0 1 0 0 2
HPDL, LOC129930439 0 1 1 0 0 2
HPS3 2 0 0 0 0 2
HSALR1, PIEZO1 0 0 2 0 0 2
HSD11B2 1 0 1 0 0 2
HSD3B2 1 1 0 0 0 2
HSPB1 1 0 1 0 0 2
HYLS1, PUS3 0 1 1 0 0 2
IARS2 1 0 1 0 0 2
IDH3A 0 1 1 0 0 2
IFITM5 1 0 1 0 0 2
IFT172, KRTCAP3 0 1 1 0 0 2
IFT74 1 1 0 0 0 2
IGSF1 0 1 1 0 0 2
IL21R 1 1 0 0 0 2
IL6ST 0 1 1 0 0 2
IMPG1 0 1 1 0 0 2
INO80 0 2 0 0 0 2
INPP5K 0 0 2 0 0 2
INSL6, JAK2 0 1 1 0 0 2
INSR 1 0 1 0 0 2
IPO8 1 0 0 1 0 2
ITPR1, LOC126806590 1 1 0 0 0 2
ITPR3 0 0 2 0 0 2
JAK1 0 0 2 0 0 2
JAK3 1 0 0 1 0 2
JMJD8, STUB1 0 0 2 0 0 2
JPH2 0 1 1 0 0 2
KCNA1 0 1 1 0 0 2
KCNN2, LOC101927078 0 0 1 1 0 2
KCNN3 0 0 2 0 0 2
KCNQ3 1 1 0 0 0 2
KDM1A 0 0 1 1 0 2
KDM4B 0 2 0 0 0 2
KIAA1549 0 0 2 0 0 2
KIF1C 0 2 0 0 0 2
KIF21A 0 1 1 0 0 2
KIF5B 0 0 2 0 0 2
KISS1R 0 0 2 0 0 2
KIT 1 0 1 0 0 2
KIZ 1 1 0 0 0 2
KMT2D, LOC126861520 0 1 1 0 0 2
KYNU 0 1 1 0 0 2
L2HGDH 1 1 0 0 0 2
LAMA3 0 2 0 0 0 2
LAMC2 2 0 0 0 0 2
LARP7 0 0 1 1 0 2
LCP2 0 0 2 0 0 2
LCT 0 0 0 2 0 2
LGI4 0 1 1 0 0 2
LHCGR, STON1-GTF2A1L 1 1 0 0 0 2
LHX3 1 0 0 1 0 2
LINS1 1 1 0 0 0 2
LIX1L, LOC126805851, RBM8A 1 1 0 0 0 2
LMX1A 1 1 0 0 0 2
LOC121815974, OAT 2 0 0 0 0 2
LOC123956210, SLC26A4 1 1 0 0 0 2
LOC126805688, YARS1 0 0 1 1 0 2
LOC126806913, OPA1 0 1 1 0 0 2
LOC126860395, PLAG1 0 2 0 0 0 2
LOC126860971, POLR3A 1 1 0 0 0 2
LOC126861615, PAH 2 0 0 0 0 2
LOC126862123, SLC12A1 0 2 0 0 0 2
LOC126862757, TCF4 1 1 0 0 0 2
LOC126862902, RYR1 0 0 2 0 0 2
LOC126863256, WDR45 2 0 0 0 0 2
LOC129930446, MMACHC 1 1 0 0 0 2
LOC129992585, SGCB 1 1 0 0 0 2
LOC129996745, PHIP 0 1 1 0 0 2
LOC130002651, STXBP1 1 0 1 0 0 2
LOC130004775, NHLRC2 0 0 1 1 0 2
LOC130005368, RRAS2 0 2 0 0 0 2
LOXL3 0 1 1 0 0 2
LRAT 0 1 1 0 0 2
LRRC37A2, NSF 0 0 2 0 0 2
LSS 0 1 1 0 0 2
LTBP1 0 2 0 0 0 2
LTBP3 1 0 1 0 0 2
LYST 1 0 1 0 0 2
MAF 1 1 0 0 0 2
MAGT1 0 1 0 1 0 2
MARK2 0 0 2 0 0 2
MARVELD2 2 0 0 0 0 2
MAST1 1 0 1 0 0 2
MATN3 1 0 1 0 0 2
MBTPS2 1 0 1 0 0 2
MECR 1 1 0 0 0 2
MED23 0 0 0 2 0 2
MED25 0 0 1 1 0 2
MEN1 1 1 0 0 0 2
METTL23 1 0 0 1 0 2
MMAA 1 0 0 1 0 2
MMP2 0 0 1 1 0 2
MPI 0 1 1 0 0 2
MRAS 1 0 1 0 0 2
MRTFB 0 0 2 0 0 2
MSL2 0 1 1 0 0 2
MSL3 1 1 0 0 0 2
MT-ND4 1 1 0 0 0 2
MT-ND5 0 2 0 0 0 2
MT-TL1 1 1 0 0 0 2
MTHFS, ST20-MTHFS 0 1 1 0 0 2
MTRR 1 0 1 0 0 2
MUSK 0 1 0 1 0 2
MYCBP2 0 0 2 0 0 2
MYH11 0 0 1 1 0 2
MYO1H 0 1 1 0 0 2
MYO3A 2 0 0 0 0 2
MYPN 1 1 0 0 0 2
NANS, TRIM14 0 1 1 0 0 2
NBN 1 0 1 0 0 2
NCDN 0 1 1 0 0 2
NCKAP1 0 1 1 0 0 2
NCSTN 0 1 1 0 0 2
NDUFV2 1 0 1 0 0 2
NEK1 1 1 0 0 0 2
NEK10 1 0 1 0 0 2
NFIB 1 0 1 0 0 2
NHEJ1 2 0 0 0 0 2
NKX2-5 0 1 1 0 0 2
NLRP12 1 1 0 0 0 2
NLRP3 0 1 1 0 0 2
NODAL 0 1 1 0 0 2
NONO 1 1 0 0 0 2
NPR2, SPAG8 0 2 0 0 0 2
NPRL2 1 0 1 0 0 2
NPRL3 0 0 2 0 0 2
NPTX1 1 1 0 0 0 2
NSRP1 1 1 0 0 0 2
NTNG2 1 0 1 0 0 2
NUP160 0 1 1 0 0 2
NYX 0 0 2 0 0 2
OBI1, POU4F1 0 1 1 0 0 2
OTUD6B 2 0 0 0 0 2
P3H1 0 2 0 0 0 2
PACS2 1 0 0 1 0 2
PAK1 1 0 1 0 0 2
PAK3 0 0 2 0 0 2
PAPSS2 2 0 0 0 0 2
PARS2 0 1 1 0 0 2
PAX7 2 0 0 0 0 2
PCYT1A 1 1 0 0 0 2
PCYT2 0 1 1 0 0 2
PDCD10 2 0 0 0 0 2
PDE4D 1 0 1 0 0 2
PDGFRB 0 0 2 0 0 2
PDHX 1 0 0 1 0 2
PDZD9, UQCRC2 0 0 2 0 0 2
PEX13 0 2 0 0 0 2
PEX16 0 0 2 0 0 2
PEX26 1 0 1 0 0 2
PEX5 0 1 1 0 0 2
PFKM 1 0 1 0 0 2
PGAP1 1 1 0 0 0 2
PHF6 2 0 0 0 0 2
PHF8 0 2 0 0 0 2
PIBF1 0 2 0 0 0 2
PIGO 0 1 1 0 0 2
PIGV 1 0 1 0 0 2
PIK3CG 1 0 1 0 0 2
PITX2 0 2 0 0 0 2
PKHD1L1 0 0 2 0 0 2
PKP2 2 0 0 0 0 2
PLAA 0 1 1 0 0 2
PLCB4 0 1 1 0 0 2
PLD1 0 1 1 0 0 2
PLEC 2 0 0 0 0 2
PLS3 0 2 0 0 0 2
PLXNB3 0 0 2 0 0 2
PMS2 1 0 1 0 0 2
PNPLA2 1 0 0 1 0 2
PNPLA8 1 0 0 1 0 2
PNPO 0 0 2 0 0 2
POLH 1 1 0 0 0 2
POLR1D 0 2 0 0 0 2
POLR3B 0 0 2 0 0 2
POMGNT2 0 1 1 0 0 2
POMT1 0 2 0 0 0 2
POR 0 1 0 1 0 2
PPFIA3 1 1 0 0 0 2
PPFIBP1 0 0 1 1 0 2
PPM1D 0 2 0 0 0 2
PPP1R21 0 2 0 0 0 2
PPP2CA 0 2 0 0 0 2
PRDX3 0 1 1 0 0 2
PRKACB 0 1 1 0 0 2
PRKAR1B 1 0 1 0 0 2
PRLR 0 0 2 0 0 2
PROS1 0 2 0 0 0 2
PRPS1 0 1 1 0 0 2
PRX 0 2 0 0 0 2
PSTPIP1 1 0 1 0 0 2
PTH1R 0 0 0 2 0 2
PTPRA, VPS16 1 0 1 0 0 2
PTS 2 0 0 0 0 2
PUM1 0 1 0 1 0 2
PUS1 1 1 0 0 0 2
QRICH1 0 1 1 0 0 2
RAB27A 0 0 2 0 0 2
RAC3 0 1 1 0 0 2
RAG2 1 1 0 0 0 2
RALGAPA1 1 0 0 1 0 2
RAX2 0 0 2 0 0 2
RB1 1 1 0 0 0 2
RBCK1 1 0 1 0 0 2
RBP3 2 0 0 0 0 2
REEP1 0 2 0 0 0 2
RIPK1 1 1 0 0 0 2
RMND1 0 1 1 0 0 2
RNASEH2B 2 0 0 0 0 2
RNF13 1 0 1 0 0 2
RNF216 1 0 0 1 0 2
ROR2 1 1 0 0 0 2
RPGRIP1L 1 0 1 0 0 2
RPL11 2 0 0 0 0 2
RPL3L 0 0 2 0 0 2
RSPH3 1 1 0 0 0 2
RUNX1 0 1 0 1 0 2
RYR3 0 0 2 0 0 2
SARM1, SLC46A1 1 0 0 1 0 2
SBF2 1 0 1 0 0 2
SCLT1 1 0 1 0 0 2
SCN11A 0 1 1 0 0 2
SCN1B 0 0 1 1 0 2
SCN4A 1 0 1 0 0 2
SCYL1 1 1 0 0 0 2
SDHD 0 2 0 0 0 2
SERPINA1 2 0 0 0 0 2
SERPINC1 1 1 0 0 0 2
SET 1 1 0 0 0 2
SGPL1 0 0 1 1 0 2
SH2D1A 0 0 2 0 0 2
SHMT2 0 0 2 0 0 2
SHOC2 1 0 1 0 0 2
SIM1 0 0 2 0 0 2
SIPA1L3 1 0 1 0 0 2
SKIC3 0 2 0 0 0 2
SLC10A2 1 0 1 0 0 2
SLC1A2 0 0 2 0 0 2
SLC20A2 1 1 0 0 0 2
SLC22A12 2 0 0 0 0 2
SLC25A12 0 1 1 0 0 2
SLC25A15 1 0 1 0 0 2
SLC25A20 2 0 0 0 0 2
SLC30A9 1 1 0 0 0 2
SLC35B2 1 0 0 1 0 2
SLC35C1 1 0 0 1 0 2
SLC38A3 2 0 0 0 0 2
SLC52A2 0 0 1 1 0 2
SLC5A6 0 1 1 0 0 2
SLC5A7 0 1 1 0 0 2
SLC7A9 1 1 0 0 0 2
SLCO1B1 2 0 0 0 0 2
SMAD6 2 0 0 0 0 2
SMARCAL1 0 0 1 1 0 2
SMO 0 0 2 0 0 2
SNCA 1 0 1 0 0 2
SNORD118, TMEM107 0 2 0 0 0 2
SNTA1 0 0 2 0 0 2
SORD 2 0 0 0 0 2
SOX6 0 1 1 0 0 2
SOX9 1 1 0 0 0 2
SPAG1 2 0 0 0 0 2
SPOP 0 0 2 0 0 2
SPR 2 0 0 0 0 2
SRP72 0 0 2 0 0 2
SSBP1 1 0 1 0 0 2
ST3GAL5 1 1 0 0 0 2
STAC3 1 1 0 0 0 2
STAG2 0 0 1 1 0 2
STARD9 0 0 2 0 0 2
STIM1 0 0 2 0 0 2
STRADA 0 0 1 1 0 2
SUMF1 0 0 2 0 0 2
SYP 0 1 1 0 0 2
TAB2 0 1 1 0 0 2
TAFAZZIN 1 0 1 0 0 2
TANGO2 0 0 2 0 0 2
TARDBP 1 0 1 0 0 2
TASP1 0 0 2 0 0 2
TBC1D8B 0 0 2 0 0 2
TBCD 0 0 2 0 0 2
TBK1 0 1 1 0 0 2
TBX6 1 0 1 0 0 2
TCEAL1 0 1 1 0 0 2
TELO2 0 0 1 1 0 2
TFG 1 1 0 0 0 2
THAP1 0 1 1 0 0 2
THOC2 0 0 2 0 0 2
THRB 1 1 0 0 0 2
THSD1 0 1 1 0 0 2
TK2 2 0 0 0 0 2
TLK1 0 0 2 0 0 2
TMC8 2 0 0 0 0 2
TMEM126A 1 1 0 0 0 2
TMEM147 2 0 0 0 0 2
TMEM231 0 1 1 0 0 2
TMEM94 0 0 2 0 0 2
TMX2, TMX2-CTNND1 1 0 1 0 0 2
TNFAIP3 2 0 0 0 0 2
TNFRSF11A 1 0 1 0 0 2
TNNT1 1 0 1 0 0 2
TOE1 0 1 1 0 0 2
TOP3A 1 0 1 0 0 2
TOPORS 1 0 1 0 0 2
TRAPPC6B 1 1 0 0 0 2
TRAPPC9 1 0 0 1 0 2
TRIM8 0 1 0 1 0 2
TRIP11 0 1 0 1 0 2
TRMT10A 2 0 0 0 0 2
TULP3 1 0 1 0 0 2
TUSC3 1 1 0 0 0 2
TYMP 0 2 0 0 0 2
TYRP1 0 0 2 0 0 2
UBAP2L 0 2 0 0 0 2
UBE2A 0 2 0 0 0 2
UCHL1 0 2 0 0 0 2
UNC45B 0 0 2 0 0 2
USH1G 0 1 1 0 0 2
VCAN 1 1 0 0 0 2
VCP 2 0 0 0 0 2
VHL 1 0 1 0 0 2
VIPAS39 1 0 0 1 0 2
VSX2 0 0 1 1 0 2
WARS2 0 0 1 1 0 2
WASF1 1 0 1 0 0 2
WASHC4 0 1 1 0 0 2
WBP11 0 1 0 1 0 2
WDFY3 0 1 1 0 0 2
WDR37 1 1 0 0 0 2
WDR72 1 0 1 0 0 2
WDR81 0 0 1 1 0 2
WFDC2 1 0 1 0 0 2
WNT10A 1 0 1 0 0 2
XDH 1 0 1 0 0 2
XIAP 0 1 0 1 0 2
YARS2 0 1 1 0 0 2
YIF1B 1 0 1 0 0 2
YY1 1 1 0 0 0 2
ZEB1 0 2 0 0 0 2
ZFYVE26 2 0 0 0 0 2
ZIC2 0 0 1 1 0 2
ZMYND10 2 0 0 0 0 2
ZNFX1 0 0 2 0 0 2
​intergenic 0 0 0 1 0 1
AAGAB 1 0 0 0 0 1
ABAT 0 0 0 1 0 1
ABCA12, SNHG31 1 0 0 0 0 1
ABCA4, LOC126805794 1 0 0 0 0 1
ABCB6 0 0 1 0 0 1
ABCC2, LOC126861013 1 0 0 0 0 1
ABCC8, LOC110121471 0 1 0 0 0 1
ABCD4 0 0 1 0 0 1
ABCG5, DYNC2LI1 0 1 0 0 0 1
ABCG8 0 0 1 0 0 1
ABHD12, LOC130065586 1 0 0 0 0 1
ACAD8 0 1 0 0 0 1
ACAD9 1 0 0 0 0 1
ACADSB 1 0 0 0 0 1
ACADVL, DLG4 0 0 0 1 0 1
ACBD6 0 0 1 0 0 1
ACO2, POLR3H 0 0 1 0 0 1
ACOX2 1 0 0 0 0 1
ACSF3 1 0 0 0 0 1
ACTA2 1 0 0 0 0 1
ACTL6A 0 1 0 0 0 1
ACTN1 0 1 0 0 0 1
ACVR1 1 0 0 0 0 1
ACVR2B 0 0 1 0 0 1
ADAM17 0 1 0 0 0 1
ADAM22 1 0 0 0 0 1
ADAMTS18 1 0 0 0 0 1
ADAMTSL4 0 0 0 1 0 1
ADK 0 0 1 0 0 1
ADK, LOC102723439 1 0 0 0 0 1
AEBP1 0 1 0 0 0 1
AFF4 0 1 0 0 0 1
AGMO 0 1 0 0 0 1
AGO1 0 0 1 0 0 1
AGT 0 1 0 0 0 1
AIP, LOC130006206 1 0 0 0 0 1
AK2 0 1 0 0 0 1
AKAP6 0 0 1 0 0 1
AKR1D1 1 0 0 0 0 1
ALAS2 0 0 1 0 0 1
ALDH1A3 0 0 1 0 0 1
ALDH2 1 0 0 0 0 1
ALDH5A1, GPLD1, LOC129995978 1 0 0 0 0 1
ALG3, LOC129938049 0 0 0 1 0 1
ALKBH8 0 1 0 0 0 1
ALPK1 0 0 1 0 0 1
ALX1, LOC124629423 0 1 0 0 0 1
ALX3 1 0 0 0 0 1
ALX4 0 1 0 0 0 1
AMD1, CDK19 1 0 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 0 1
AMPD2, LOC126805822 0 1 0 0 0 1
ANAPC15, LRTOMT, TOMT 0 1 0 0 0 1
ANGPT2, MCPH1 0 0 1 0 0 1
ANK1, LOC124153154 1 0 0 0 0 1
ANK2, LOC126807137 0 0 1 0 0 1
ANKH 1 0 0 0 0 1
ANKLE2 0 0 1 0 0 1
ANKRD11, LOC101927817 0 0 1 0 0 1
ANKRD11, TRAPPC2L 0 0 1 0 0 1
ANKS1B 0 0 1 0 0 1
ANLN 0 0 1 0 0 1
ANO4 0 0 1 0 0 1
ANTXR1 0 0 0 1 0 1
AP1G2 0 0 1 0 0 1
AP2M1 1 0 0 0 0 1
APBB1, SMPD1 0 1 0 0 0 1
APOA1 0 1 0 0 0 1
APOA5, LOC108491825 0 0 1 0 0 1
APP 0 0 1 0 0 1
AR, LOC109504725 0 1 0 0 0 1
ARF1, LOC126806039 0 1 0 0 0 1
ARHGEF9 0 1 0 0 0 1
ARID2, LOC130007728 0 1 0 0 0 1
ARL2BP 0 0 1 0 0 1
ARL3 0 0 1 0 0 1
ARL6IP1 1 0 0 0 0 1
ARMC2 0 0 1 0 0 1
ARR3 1 0 0 0 0 1
ARV1, LOC129932761 1 0 0 0 0 1
ARX, LOC109610631 0 1 0 0 0 1
ASPH 1 0 0 0 0 1
ASS1, LOC124310668 0 0 1 0 0 1
ATAD1 0 0 1 0 0 1
ATCAY 1 0 0 0 0 1
ATIC, FN1 0 0 1 0 0 1
ATL3, LNCROPM 0 0 1 0 0 1
ATP11A 0 1 0 0 0 1
ATP2A1 0 0 1 0 0 1
ATP2A2 0 0 1 0 0 1
ATP2B3 0 0 1 0 0 1
ATP2C1 1 0 0 0 0 1
ATP5F1A 0 1 0 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 1
ATP6AP2 1 0 0 0 0 1
ATP6V0A1 1 0 0 0 0 1
ATP6V0A2 0 0 0 1 0 1
ATP6V0A2, LOC126861666 1 0 0 0 0 1
ATP6V0C 0 1 0 0 0 1
ATP6V1B2 0 0 1 0 0 1
ATPAF2, LOC130060409 1 0 0 0 0 1
ATXN7L3, UBTF 1 0 0 0 0 1
AUH 1 0 0 0 0 1
AVIL 0 0 1 0 0 1
AVIL, TSFM 0 0 1 0 0 1
AVP 1 0 0 0 0 1
B3GALNT2, TBCE 0 0 1 0 0 1
B3GAT3 0 0 1 0 0 1
B4GALNT1 1 0 0 0 0 1
B4GALT1 0 0 1 0 0 1
BACH2 0 0 1 0 0 1
BBS1 1 0 0 0 0 1
BBS4 0 0 0 1 0 1
BCAP31 0 1 0 0 0 1
BCAS3 1 0 0 0 0 1
BCORL1 0 0 1 0 0 1
BCS1L 0 1 0 0 0 1
BFSP2 0 0 1 0 0 1
BGN 0 0 1 0 0 1
BICC1 0 0 1 0 0 1
BMP2 0 0 1 0 0 1
BMP4 0 1 0 0 0 1
BNAT1, COL18A1 0 0 0 1 0 1
BOLA3 1 0 0 0 0 1
BORCS5 0 1 0 0 0 1
BORCS8, BORCS8-MEF2B 0 0 1 0 0 1
BPNT2 0 0 1 0 0 1
BSND 1 0 0 0 0 1
C12orf43, HNF1A 0 0 1 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
C1GALT1C1 0 0 1 0 0 1
C1S 0 1 0 0 0 1
C2 1 0 0 0 0 1
C2CD3 0 0 0 1 0 1
C2orf49, FHL2 0 1 0 0 0 1
C3orf52 1 0 0 0 0 1
C5 0 1 0 0 0 1
C6 1 0 0 0 0 1
CA8 0 0 1 0 0 1
CACNA1B 0 0 0 1 0 1
CACNA1D 0 0 0 1 0 1
CACNB4 0 0 1 0 0 1
CADM3 0 0 1 0 0 1
CAMK2A 0 0 1 0 0 1
CARD14 0 0 1 0 0 1
CARD9 1 0 0 0 0 1
CARS2 0 1 0 0 0 1
CATIP, PNKD 0 0 1 0 0 1
CAV3, OXTR 0 1 0 0 0 1
CC2D1A 0 0 0 1 0 1
CC2D2A, FBXL5 0 0 1 0 0 1
CCDC107, RMRP 0 1 0 0 0 1
CCDC186 0 0 1 0 0 1
CCDC30, PPCS 0 1 0 0 0 1
CCDC50 0 0 1 0 0 1
CCDC8 0 1 0 0 0 1
CCDC88A 0 0 0 1 0 1
CCDST, FLG2 0 1 0 0 0 1
CD55 1 0 0 0 0 1
CDC73 0 0 1 0 0 1
CDCA7L, DNAH11 0 0 1 0 0 1
CDH23, LOC111982869 0 1 0 0 0 1
CDH3 1 0 0 0 0 1
CDK19 0 0 1 0 0 1
CDK8 0 0 1 0 0 1
CDK8, LOC130009416 0 0 1 0 0 1
CDKN1B 1 0 0 0 0 1
CDKN2A 0 1 0 0 0 1
CDSN, PSORS1C1 0 1 0 0 0 1
CEACAM16 1 0 0 0 0 1
CELA2A 0 1 0 0 0 1
CELSR1 0 1 0 0 0 1
CENATAC 0 0 1 0 0 1
CENPE 1 0 0 0 0 1
CENPF 0 0 0 1 0 1
CENPT, THAP11 0 0 1 0 0 1
CEP164 0 1 0 0 0 1
CEP290, RLIG1 0 1 0 0 0 1
CEP85L 0 1 0 0 0 1
CEP85L, PLN 0 0 1 0 0 1
CERT1 0 1 0 0 0 1
CETP 0 0 1 0 0 1
CFAP74 0 1 0 0 0 1
CFAP96, UFSP2 1 0 0 0 0 1
CFHR3 1 0 0 0 0 1
CFHR5 0 1 0 0 0 1
CHAT, SLC18A3 0 1 0 0 0 1
CHCHD10 0 0 1 0 0 1
CHD6 0 0 1 0 0 1
CHEK2 0 1 0 0 0 1
CHKA 0 0 1 0 0 1
CHM, LOC129391306 0 1 0 0 0 1
CHRDL1 0 0 1 0 0 1
CHRM1 0 1 0 0 0 1
CHRNE, LOC130060040 1 0 0 0 0 1
CHST14, LOC130056851 0 1 0 0 0 1
CHST6 0 0 1 0 0 1
CHSY1, LOC130058068 1 0 0 0 0 1
CIBAR1 1 0 0 0 0 1
CISD2, LOC129992891 0 0 1 0 0 1
CIT 1 0 0 0 0 1
CIZ1, DNM1 0 0 1 0 0 1
CLCN1, LOC123956257 1 0 0 0 0 1
CLCN2 0 0 1 0 0 1
CLCNKB 1 0 0 0 0 1
CLDN14 1 0 0 0 0 1
CLDN16 1 0 0 0 0 1
CLDN5 0 1 0 0 0 1
CLIC2 0 0 0 1 0 1
CLN5 1 0 0 0 0 1
CLPB, LOC130006336 0 0 0 1 0 1
CLRN2 0 0 1 0 0 1
CLTC, LOC126862609 0 0 0 1 0 1
CLXN 0 1 0 0 0 1
CNNM4 0 0 1 0 0 1
CNTN2 1 0 0 0 0 1
CNTNAP1, LOC128669077 0 0 0 1 0 1
COA3 0 0 1 0 0 1
COASY 0 1 0 0 0 1
COG7 1 0 0 0 0 1
COL12A1, LOC126859712 0 1 0 0 0 1
COL13A1 0 0 1 0 0 1
COL1A1, LOC126862586 0 1 0 0 0 1
COL25A1 0 0 1 0 0 1
COL4A6 0 1 0 0 0 1
COL6A3, LOC122889011 0 1 0 0 0 1
COL9A1 0 1 0 0 0 1
COL9A2, LOC129930260 0 1 0 0 0 1
COPB2 0 1 0 0 0 1
COQ2 0 0 1 0 0 1
COQ9, LOC112469007 0 0 0 1 0 1
CORO1A 1 0 0 0 0 1
COX6A1 1 0 0 0 0 1
COXFA4 1 0 0 0 0 1
CP, HPS3 1 0 0 0 0 1
CPLX1 0 1 0 0 0 1
CPSF1 0 1 0 0 0 1
CPT1A, LOC126861244 1 0 0 0 0 1
CPT1C 0 0 1 0 0 1
CR2 0 1 0 0 0 1
CRAT 0 0 1 0 0 1
CREB3L1 1 0 0 0 0 1
CREB3L3 0 0 1 0 0 1
CREBBP, LOC130058353 0 0 1 0 0 1
CRELD1 0 0 1 0 0 1
CRTAP, LOC129936436 1 0 0 0 0 1
CRYAA 0 1 0 0 0 1
CRYBB3 0 1 0 0 0 1
CSNK1G1 0 1 0 0 0 1
CTBP1 1 0 0 0 0 1
CTDP1 1 0 0 0 0 1
CTNNA1 0 0 1 0 0 1
CTR9 0 0 1 0 0 1
CTSC 1 0 0 0 0 1
CTSD 1 0 0 0 0 1
CTU2 1 0 0 0 0 1
CUL4B, LOC113845788 0 0 0 1 0 1
CUX2 0 0 1 0 0 1
CXCR4 1 0 0 0 0 1
CYBA 1 0 0 0 0 1
CYBB, LOC130068093 0 0 1 0 0 1
CYLD 0 0 1 0 0 1
CYP11B1 1 0 0 0 0 1
CYP21A2 0 0 1 0 0 1
CYP26B1 0 0 1 0 0 1
CYP2R1, PDE3B 0 1 0 0 0 1
D2HGDH 0 0 1 0 0 1
DAAM2 0 0 1 0 0 1
DCTN1 1 0 0 0 0 1
DDB1 0 0 1 0 0 1
DENND5B 0 0 1 0 0 1
DGAT1, LOC130001385 0 1 0 0 0 1
DHCR24 0 0 1 0 0 1
DHH 0 0 1 0 0 1
DHTKD1 1 0 0 0 0 1
DLD 1 0 0 0 0 1
DLL3 1 0 0 0 0 1
DLL3, LOC130064417, PLEKHG2 1 0 0 0 0 1
DLL3, LOC130064418 0 0 1 0 0 1
DLL4 0 1 0 0 0 1
DMGDH 0 1 0 0 0 1
DMP1 0 0 0 1 0 1
DMPK 0 1 0 0 0 1
DMXL2 1 0 0 0 0 1
DNAAF1 1 0 0 0 0 1
DNAAF11 1 0 0 0 0 1
DNAAF19 1 0 0 0 0 1
DNAAF3, LOC130065090 1 0 0 0 0 1
DNAAF6 0 1 0 0 0 1
DNAH1 1 0 0 0 0 1
DNAH2 0 0 1 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 1
DNAJC5 1 0 0 0 0 1
DNAL1 0 0 1 0 0 1
DNHD1 1 0 0 0 0 1
DNMT3B 0 0 0 1 0 1
DNMT3B, LOC126863014 0 0 1 0 0 1
DOCK1 0 0 1 0 0 1
DOCK3 1 0 0 0 0 1
DOT1L 0 0 1 0 0 1
DPF2 0 0 1 0 0 1
DPH1 1 0 0 0 0 1
DPH5, SLC30A7 1 0 0 0 0 1
DPYD 1 0 0 0 0 1
DPYSL5 0 0 1 0 0 1
DRD1 0 0 1 0 0 1
DRD4 0 0 1 0 0 1
DSC2 0 1 0 0 0 1
DSG1 1 0 0 0 0 1
DSTYK 0 1 0 0 0 1
DUT 0 1 0 0 0 1
DVL1 1 0 0 0 0 1
DVL1, LOC129929114 1 0 0 0 0 1
DYNC2I2, LOC126860772 0 0 1 0 0 1
DZIP1L 1 0 0 0 0 1
EDARADD 0 1 0 0 0 1
EEF2 0 1 0 0 0 1
EGR2 0 1 0 0 0 1
EHHADH 0 0 1 0 0 1
EHMT1, LOC130003148 1 0 0 0 0 1
EIF2AK4 0 1 0 0 0 1
EIF2B2 0 0 1 0 0 1
EIF2B3 0 1 0 0 0 1
EIF2S3 0 0 1 0 0 1
EIF3F 1 0 0 0 0 1
ELP4, PAX6 0 1 0 0 0 1
EMC10, GARIN5A 0 1 0 0 0 1
ENPP1 1 0 0 0 0 1
EOGT 1 0 0 0 0 1
EP300, LOC126863158 0 1 0 0 0 1
EPB41 0 0 1 0 0 1
EPB41L1 0 0 1 0 0 1
EPHA2 0 1 0 0 0 1
EPHB4, LOC126860124 0 1 0 0 0 1
EPM2A, EPM2A-DT, LOC129997381 1 0 0 0 0 1
EPOR 0 1 0 0 0 1
EPS8L2 1 0 0 0 0 1
ERBB3 0 1 0 0 0 1
ETHE1 0 0 1 0 0 1
ETS1 0 1 0 0 0 1
ETV6 1 0 0 0 0 1
EVC2 0 0 0 1 0 1
EXOC6B 1 0 0 0 0 1
EXOC7 0 0 1 0 0 1
EXOSC9 1 0 0 0 0 1
EYA4 0 0 1 0 0 1
EYA4, TARID 0 1 0 0 0 1
F10 0 1 0 0 0 1
F2 1 0 0 0 0 1
FAM50A 0 0 1 0 0 1
FAN1 1 0 0 0 0 1
FAN1, MTMR10 1 0 0 0 0 1
FANCA, LOC112486223 0 1 0 0 0 1
FANCB 1 0 0 0 0 1
FANCB, GLRA2 0 0 1 0 0 1
FANCD2 1 0 0 0 0 1
FANCD2, FANCD2OS 0 1 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 1
FANCD2, LOC107303338, VHL 1 0 0 0 0 1
FANCE 1 0 0 0 0 1
FANCE, LOC129996245 0 0 0 1 0 1
FANCI 1 0 0 0 0 1
FANCL 0 1 0 0 0 1
FAT1 0 1 0 0 0 1
FAT1, LOC126807254 0 1 0 0 0 1
FBLN1 0 0 1 0 0 1
FBLN5 0 0 1 0 0 1
FBRSL1 0 0 1 0 0 1
FBXO38 0 0 1 0 0 1
FCHO1 0 0 0 1 0 1
FEM1C 0 0 1 0 0 1
FERRY3 1 0 0 0 0 1
FGB 0 0 1 0 0 1
FGD1, TSR2 0 1 0 0 0 1
FGF10 0 1 0 0 0 1
FGF12 1 0 0 0 0 1
FGF13 0 0 1 0 0 1
FGF3 0 1 0 0 0 1
FILIP1 1 0 0 0 0 1
FKBP14 0 1 0 0 0 1
FLAD1 1 0 0 0 0 1
FLCN 0 1 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 1
FLT3 0 1 0 0 0 1
FLT4 0 1 0 0 0 1
FLVCR2 1 0 0 0 0 1
FMN2 0 0 0 1 0 1
FMO3, LOC126805916 1 0 0 0 0 1
FN1, LOC126806499 0 0 1 0 0 1
FOCAD 0 1 0 0 0 1
FOSL2 0 1 0 0 0 1
FOXC1, LOC129995601 0 0 1 0 0 1
FOXI3 0 1 0 0 0 1
FOXP1, LOC126806714 1 0 0 0 0 1
FOXP2, LOC110120810 0 1 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 0 0 0 1
FREM2, LOC130009588 0 0 1 0 0 1
FRMD5 0 0 1 0 0 1
FRRS1L 0 0 1 0 0 1
FTL 0 1 0 0 0 1
FTSJ1 0 1 0 0 0 1
FYCO1 1 0 0 0 0 1
FZD4 0 0 1 0 0 1
G6PC3 1 0 0 0 0 1
GABRA2 0 0 1 0 0 1
GABRA3 0 0 1 0 0 1
GABRB1 0 0 1 0 0 1
GABRD 0 1 0 0 0 1
GALM 0 0 1 0 0 1
GALNS, LOC126862447 0 0 1 0 0 1
GALNS, LOC130059762, TRAPPC2L 0 1 0 0 0 1
GALNT3 1 0 0 0 0 1
GALT, LOC130001683 1 0 0 0 0 1
GAMT 0 0 1 0 0 1
GATA2 0 1 0 0 0 1
GATA6 0 0 1 0 0 1
GATAD1, PEX1 0 0 0 1 0 1
GATAD2A 0 0 1 0 0 1
GBA1 1 0 0 0 0 1
GBF1, PITX3 1 0 0 0 0 1
GCDH, LOC117125594 0 1 0 0 0 1
GCNT2 0 0 1 0 0 1
GCSH 0 0 1 0 0 1
GET4 0 0 1 0 0 1
GFRA1 0 0 1 0 0 1
GGPS1 0 1 0 0 0 1
GHRHR 1 0 0 0 0 1
GIGYF2 0 0 1 0 0 1
GJA3 0 0 1 0 0 1
GJB4 0 0 1 0 0 1
GJB6 1 0 0 0 0 1
GLB1, LOC129936434, TMPPE 0 1 0 0 0 1
GLDN 0 0 0 1 0 1
GLE1, LOC101929270 0 1 0 0 0 1
GLI1 1 0 0 0 0 1
GLIS3 0 1 0 0 0 1
GLRB 0 0 1 0 0 1
GLS 1 0 0 0 0 1
GLUL 1 0 0 0 0 1
GNAI3 0 0 1 0 0 1
GNAT1 1 0 0 0 0 1
GNAT2 0 0 1 0 0 1
GNB4 0 0 1 0 0 1
GNG12, WLS 0 0 1 0 0 1
GPAA1 0 1 0 0 0 1
GPC4 0 1 0 0 0 1
GPR156 0 1 0 0 0 1
GPX4 0 1 0 0 0 1
GRHL3 0 0 1 0 0 1
GRIA4 0 1 0 0 0 1
GRK2 0 0 1 0 0 1
GRM1 1 0 0 0 0 1
GRM6 0 0 1 0 0 1
GRN 0 0 0 1 0 1
GRXCR2 1 0 0 0 0 1
GSDME 1 0 0 0 0 1
GSTZ1 1 0 0 0 0 1
GTPBP2 1 0 0 0 0 1
H4C11 0 0 1 0 0 1
HADHA 1 0 0 0 0 1
HARS1 0 1 0 0 0 1
HBA1, HBA2, LOC106804612 0 1 0 0 0 1
HCCS 0 1 0 0 0 1
HCN4, LOC105370890, LOC126862173 0 0 1 0 0 1
HECTD4 0 0 1 0 0 1
HERC2, LOC129390675 0 0 1 0 0 1
HES7 0 0 1 0 0 1
HESX1 0 1 0 0 0 1
HMGCS2 0 1 0 0 0 1
HNF1B, LOC126862549 0 1 0 0 0 1
HNRNPA1, LOC117038776 0 0 1 0 0 1
HNRNPA2B1 0 0 1 0 0 1
HNRNPC 1 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HPDL 0 0 1 0 0 1
HPS1 1 0 0 0 0 1
HPS4 1 0 0 0 0 1
HSD17B10 1 0 0 0 0 1
HSD17B4, LOC129994460 1 0 0 0 0 1
HSPD1 0 0 1 0 0 1
HSPG2, LOC126805655 0 0 1 0 0 1
HTT, LOC109461479, LOC129929027 0 1 0 0 0 1
IARS2, LOC129932529 0 0 1 0 0 1
IDH2 1 0 0 0 0 1
IDS 0 0 0 1 0 1
IDUA, SLC26A1 1 0 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFNAR2, IFNAR2-IL10RB 0 0 0 1 0 1
IFT172 0 1 0 0 0 1
IFT27 0 0 0 1 0 1
IFT56 0 1 0 0 0 1
IFT81 0 0 1 0 0 1
IGHMBP2, LOC126861245 0 1 0 0 0 1
IGLL1 1 0 0 0 0 1
IKBKB 0 0 1 0 0 1
IKZF1 0 1 0 0 0 1
IKZF5 0 0 1 0 0 1
IL10RA 0 1 0 0 0 1
IL11RA 1 0 0 0 0 1
IL1RAPL1 0 1 0 0 0 1
IL2RB 0 0 1 0 0 1
INTS1 0 0 0 1 0 1
IQCE 1 0 0 0 0 1
IQCE, LOC126859928 0 1 0 0 0 1
IRAK4 1 0 0 0 0 1
IRF2BPL, LOC107984638 0 1 0 0 0 1
IRF6 0 0 1 0 0 1
IRF8 1 0 0 0 0 1
ISCA2 0 0 1 0 0 1
ITGA2B, LOC130060983 0 0 1 0 0 1
ITGA7 0 0 0 1 0 1
ITGB3, LOC130061044 1 0 0 0 0 1
JAGN1 0 0 0 1 0 1
KARS1, LOC126862402 0 0 1 0 0 1
KAT5 0 0 1 0 0 1
KAT5, RNASEH2C 0 0 1 0 0 1
KAT6B, LOC101929165 0 0 1 0 0 1
KAT8 0 0 1 0 0 1
KATNIP 1 0 0 0 0 1
KATNIP, LOC126862323 0 1 0 0 0 1
KCNA6 0 0 1 0 0 1
KCNE1 0 1 0 0 0 1
KCNH1 1 0 0 0 0 1
KCNH5 0 0 1 0 0 1
KCNK9 0 1 0 0 0 1
KCNN4 1 0 0 0 0 1
KCNQ1, KCNQ1OT1 0 0 1 0 0 1
KCNQ5 0 0 1 0 0 1
KCNQ5, KCNQ5-DT 0 0 1 0 0 1
KDM4B, LOC130063244 0 1 0 0 0 1
KDSR 0 1 0 0 0 1
KERA 0 0 1 0 0 1
KIAA0825 0 0 1 0 0 1
KIF5C 0 0 1 0 0 1
KIFBP 0 1 0 0 0 1
KIRREL3 0 0 1 0 0 1
KITLG 0 0 1 0 0 1
KIZ, LOC130065507 1 0 0 0 0 1
KLF11 0 0 1 0 0 1
KLHL3 0 0 1 0 0 1
KLHL7 1 0 0 0 0 1
KMT5B 0 0 1 0 0 1
KPTN 0 0 0 1 0 1
KRT1 1 0 0 0 0 1
KRT12 0 0 1 0 0 1
KRT16 1 0 0 0 0 1
KRT5, LOC126861525 1 0 0 0 0 1
KRT6A 1 0 0 0 0 1
KRT86 0 1 0 0 0 1
LALTOP, LOC126806104, TPO 0 0 1 0 0 1
LAMA1, LOC126862685 0 1 0 0 0 1
LAMA2, LOC126859784 0 1 0 0 0 1
LAMA3, LOC126862707 1 0 0 0 0 1
LAMB1 0 0 1 0 0 1
LAMC3 1 0 0 0 0 1
LCA5 1 0 0 0 0 1
LCAT 0 0 1 0 0 1
LCK 0 0 1 0 0 1
LDB3, LOC110121486 0 0 1 0 0 1
LDLR, MIR6886 1 0 0 0 0 1
LEF1 0 1 0 0 0 1
LEPR 1 0 0 0 0 1
LGI1 0 0 1 0 0 1
LGI3 0 0 1 0 0 1
LIAS 0 0 0 1 0 1
LIG4 0 1 0 0 0 1
LIM2 0 0 1 0 0 1
LINS1, LOC130058042 0 0 1 0 0 1
LMBRD1 1 0 0 0 0 1
LMNB2 0 0 1 0 0 1
LMOD3 0 0 1 0 0 1
LNPK 1 0 0 0 0 1
LOC100287944, POLR3B 0 0 1 0 0 1
LOC101927055, TTN 0 0 1 0 0 1
LOC101928525, MRPS2 0 0 1 0 0 1
LOC102723692, XYLT1 0 0 1 0 0 1
LOC106029312, NCF1 1 0 0 0 0 1
LOC107652445, SHOX 0 0 1 0 0 1
LOC107982234, WT1 0 1 0 0 0 1
LOC107985033, SLFN14 0 0 1 0 0 1
LOC108903148, OPTN 1 0 0 0 0 1
LOC109611589, RUNX2 0 1 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 1
LOC110806306, TERC 0 1 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 1
LOC112272617, MAN2C1 0 0 1 0 0 1
LOC112533672, UNC13D 1 0 0 0 0 1
LOC112577531, SNRPE 0 1 0 0 0 1
LOC113788297, NDUFAF6 0 0 1 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
LOC114827851, MYH6 0 0 1 0 0 1
LOC124625862, ROBO3 1 0 0 0 0 1
LOC124629354, PRPH, TROAP 0 1 0 0 0 1
LOC125146351, PLIN1 0 1 0 0 0 1
LOC125446261, MLC1 0 0 1 0 0 1
LOC125467768, PCDH19 1 0 0 0 0 1
LOC126805680, PUM1 0 0 1 0 0 1
LOC126805704, SNIP1 0 0 1 0 0 1
LOC126805765, NEXN 0 0 1 0 0 1
LOC126806253, STAMBP 0 0 1 0 0 1
LOC126806423, TTN 0 1 0 0 0 1
LOC126806424, TTN 1 0 0 0 0 1
LOC126806425, TTN 1 0 0 0 0 1
LOC126806630, THRB 1 0 0 0 0 1
LOC126806878, TBL1XR1 0 0 1 0 0 1
LOC126807323, TRIO 0 0 1 0 0 1
LOC126807509, UQCRQ 0 1 0 0 0 1
LOC126859697, MLIP 0 1 0 0 0 1
LOC126859807, TNFAIP3 0 1 0 0 0 1
LOC126859838, SYNE1 1 0 0 0 0 1
LOC126860498, WASHC5 0 0 1 0 0 1
LOC126860792, PMPCA 0 0 1 0 0 1
LOC126860802, ZMYND11 0 1 0 0 0 1
LOC126860990, MINPP1 0 1 0 0 0 1
LOC126861318, MMP13 0 0 1 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 0 0 1
LOC126861443, MFAP5 1 0 0 0 0 1
LOC126861878, TTC5 1 0 0 0 0 1
LOC126861897, MYH7 0 1 0 0 0 1
LOC126862088, TRPM1 0 1 0 0 0 1
LOC126862361, SLC12A3 0 0 1 0 0 1
LOC126862500, MYH2, MYHAS 0 0 1 0 0 1
LOC126862745, MYO5B, SNHG22 0 0 0 1 0 1
LOC126863207, MID1 0 0 1 0 0 1
LOC129391106, RYR1 0 1 0 0 0 1
LOC129931299, WARS2 1 0 0 0 0 1
LOC129935026, TBR1 1 0 0 0 0 1
LOC129936949, PDHB 0 0 1 0 0 1
LOC129993881, MOCS2 0 1 0 0 0 1
LOC129994985, TCOF1 0 0 1 0 0 1
LOC129995635, TUBB2A 0 1 0 0 0 1
LOC130003098, SLC34A3 0 0 1 0 0 1
LOC130004826, PRDX3 0 0 1 0 0 1
LOC130005549, PDHX 1 0 0 0 0 1
LOC130006027, LTBP3 0 0 1 0 0 1
LOC130006030, LTBP3 1 0 0 0 0 1
LOC130007006, ROBO3 0 0 1 0 0 1
LOC130008987, ORAI1 0 0 0 1 0 1
LOC130009573, RFXAP 1 0 0 0 0 1
LOC130009585, UFM1 1 0 0 0 0 1
LOC130059555, MLYCD 1 0 0 0 0 1
LOC130060218, VAMP2 0 1 0 0 0 1
LOC130060544, VMA12 1 0 0 0 0 1
LOC130060555, UNC119 0 0 1 0 0 1
LOC130060903, NAGLU 0 1 0 0 0 1
LOC130061364, MED13 0 1 0 0 0 1
LOC130062487, MYO5B 0 0 0 1 0 1
LOC130062726, TSHZ1 0 0 1 0 0 1
LOC130063270, LONP1 0 0 1 0 0 1
LOC130064280, SDHAF1 1 0 0 0 0 1
LOC130064454, PRX 1 0 0 0 0 1
LOC130064475, LTBP4 0 0 1 0 0 1
LOC130064709, OPA3 1 0 0 0 0 1
LOC130065964, WFDC2 0 1 0 0 0 1
LOC130066536, SCAF4 0 1 0 0 0 1
LOC130067862, SCO2, TYMP 0 0 1 0 0 1
LOC130068256, PQBP1 0 0 1 0 0 1
LOC130068460, MAGT1 0 0 0 1 0 1
LOC130068628, THOC2 0 0 1 0 0 1
LPAR6, RB1 0 1 0 0 0 1
LRP1 0 1 0 0 0 1
LRP2 1 0 0 0 0 1
LRP6 0 1 0 0 0 1
LRPAP1 1 0 0 0 0 1
LRPPRC 0 0 0 1 0 1
LRRC51, LRTOMT 1 0 0 0 0 1
LRRC7 0 0 1 0 0 1
LRRK2 1 0 0 0 0 1
LRSAM1 0 0 1 0 0 1
LURAP1L, TYRP1 0 0 1 0 0 1
LYRM7 0 0 1 0 0 1
LZTFL1 0 1 0 0 0 1
MAF, WWOX 0 0 1 0 0 1
MAFA 0 0 1 0 0 1
MAGI2 0 0 1 0 0 1
MALT1 0 1 0 0 0 1
MAN1B1 0 1 0 0 0 1
MAN2C1, NEIL1 0 0 1 0 0 1
MAP4K4 0 0 1 0 0 1
MAPKBP1 1 0 0 0 0 1
MARS1 0 0 1 0 0 1
MASP2, TARDBP 1 0 0 0 0 1
MAT1A 0 0 1 0 0 1
MBD4 1 0 0 0 0 1
MDM4 0 0 1 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 1
MECOM 0 1 0 0 0 1
MED12L, P2RY12 0 1 0 0 0 1
MEGF8 0 0 0 1 0 1
MESD 0 1 0 0 0 1
METTL5 1 0 0 0 0 1
MIB1 0 1 0 0 0 1
MIR1225, PKD1, TSC2 0 0 1 0 0 1
MIR9718, SIX1 0 0 1 0 0 1
MKRN3 0 0 1 0 0 1
MLIP 0 1 0 0 0 1
MLLT3 0 0 1 0 0 1
MMP20 0 0 1 0 0 1
MNX1 1 0 0 0 0 1
MPC1 1 0 0 0 0 1
MPDU1 0 1 0 0 0 1
MPLKIP 1 0 0 0 0 1
MPZ, SDHC 0 0 1 0 0 1
MRAP 1 0 0 0 0 1
MRE11 1 0 0 0 0 1
MRM2 0 0 1 0 0 1
MRPL36, NDUFS6 0 0 0 1 0 1
MRPL39 0 0 1 0 0 1
MRPL49 0 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1
MT-CO1, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TF, MT-TI, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TV, MT-TW, MT-TY 0 0 1 0 0 1
MT-ND1, MT-TL1 0 1 0 0 0 1
MT-ND3 1 0 0 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 1
MT-ND5, MT-RNR1 1 0 0 0 0 1
MT-RNR1 0 0 1 0 0 1
MT-TF 1 0 0 0 0 1
MT-TI 0 1 0 0 0 1
MT-TK 1 0 0 0 0 1
MT-TS1 1 0 0 0 0 1
MTFMT 1 0 0 0 0 1
MTSS2 1 0 0 0 0 1
MTTP 1 0 0 0 0 1
MTX2 1 0 0 0 0 1
MUC1 0 1 0 0 0 1
MYH11, NDE1 1 0 0 0 0 1
MYH14 0 0 1 0 0 1
MYH8, MYHAS 1 0 0 0 0 1
MYLK 0 0 0 1 0 1
MYLK2 0 0 1 0 0 1
MYO9A 0 1 0 0 0 1
MYOC 1 0 0 0 0 1
NADSYN1 1 0 0 0 0 1
NAGS 0 1 0 0 0 1
NAPB 1 0 0 0 0 1
NARS2 0 0 0 1 0 1
NAV3 0 1 0 0 0 1
NBEAL2 1 0 0 0 0 1
NCAPG2 0 0 1 0 0 1
NCKAP1L 0 0 1 0 0 1
NCR1, NLRP7 1 0 0 0 0 1
NDC1 0 0 1 0 0 1
NDNF 0 1 0 0 0 1
NDST1 1 0 0 0 0 1
NDUFAF5 0 0 0 1 0 1
NDUFB11 0 0 1 0 0 1
NDUFB3 1 0 0 0 0 1
NDUFS2 0 0 0 1 0 1
NDUFS3 0 0 1 0 0 1
NEFH 0 0 1 0 0 1
NEK9 0 0 1 0 0 1
NEURL4 0 0 1 0 0 1
NEUROG1 0 0 1 0 0 1
NFASC 0 0 1 0 0 1
NFKB2, PSD 1 0 0 0 0 1
NFS1 0 0 1 0 0 1
NIPA1 1 0 0 0 0 1
NIPAL4 1 0 0 0 0 1
NKX6-2 0 0 1 0 0 1
NLGN3 0 1 0 0 0 1
NLRC4 0 0 1 0 0 1
NLRP7 1 0 0 0 0 1
NME5 0 1 0 0 0 1
NOG 0 0 1 0 0 1
NOS1AP 0 0 1 0 0 1
NR3C1 0 0 1 0 0 1
NRL 0 1 0 0 0 1
NRXN2 0 1 0 0 0 1
NSDHL 0 0 0 1 0 1
NT5C2 0 1 0 0 0 1
NT5C3A 1 0 0 0 0 1
NUBPL 0 0 0 1 0 1
NUDT2 1 0 0 0 0 1
NUP188 0 0 0 1 0 1
NUP37 1 0 0 0 0 1
NUP54 0 0 1 0 0 1
OAT 1 0 0 0 0 1
OBSCN 0 1 0 0 0 1
OCLN 1 0 0 0 0 1
ODAD1 1 0 0 0 0 1
ODAD2 0 1 0 0 0 1
ODAD3 1 0 0 0 0 1
ODAD4 1 0 0 0 0 1
ODC1 0 1 0 0 0 1
OFD1, TRAPPC2 1 0 0 0 0 1
OGT 0 0 1 0 0 1
OPTN 0 1 0 0 0 1
OSBPL2 0 1 0 0 0 1
OSGEP 1 0 0 0 0 1
OSMR 0 0 1 0 0 1
OSTM1 1 0 0 0 0 1
OTUD5 0 1 0 0 0 1
P2RX2 0 1 0 0 0 1
P4HA2 0 0 1 0 0 1
PACS1 1 0 0 0 0 1
PAX4 0 0 1 0 0 1
PAX8 0 1 0 0 0 1
PCK1 0 0 1 0 0 1
PCLO 0 0 0 1 0 1
PDE10A 0 0 1 0 0 1
PDE3A 0 0 1 0 0 1
PDHB 0 0 1 0 0 1
PDSS2 0 1 0 0 0 1
PEPD 1 0 0 0 0 1
PEX11B 0 0 0 1 0 1
PGAP2 1 0 0 0 0 1
PGK1 0 0 1 0 0 1
PGM2L1 0 0 1 0 0 1
PGM3 0 1 0 0 0 1
PHACTR1 0 0 1 0 0 1
PHGDH 0 0 0 1 0 1
PHOX2B 0 1 0 0 0 1
PIGF 0 0 1 0 0 1
PIK3CD 1 0 0 0 0 1
PIKFYVE 0 1 0 0 0 1
PINK1 1 0 0 0 0 1
PJVK 1 0 0 0 0 1
PKDCC 1 0 0 0 0 1
PLAG1 0 1 0 0 0 1
PLCD1 0 0 1 0 0 1
PLD3 0 0 1 0 0 1
PLEKHG5 1 0 0 0 0 1
PLPBP 0 1 0 0 0 1
PLS1 0 0 1 0 0 1
PLXNA1 0 0 1 0 0 1
PMP2 0 0 1 0 0 1
PMPCA 0 1 0 0 0 1
PNLDC1 0 1 0 0 0 1
POF1B 0 0 1 0 0 1
POLD1 1 0 0 0 0 1
POLR1A 0 0 1 0 0 1
POLR1C 1 0 0 0 0 1
PORCN 0 0 1 0 0 1
POU3F4 0 1 0 0 0 1
PPP1CB 1 0 0 0 0 1
PPP1R12A 0 1 0 0 0 1
PPP1R13L 0 1 0 0 0 1
PPP1R15B 1 0 0 0 0 1
PPP1R3F 0 0 1 0 0 1
PQBP1, SLC35A2 0 0 1 0 0 1
PREPL 0 0 1 0 0 1
PRICKLE2 0 0 1 0 0 1
PRIMPOL 0 0 1 0 0 1
PRKACA 1 0 0 0 0 1
PRKG1 0 0 1 0 0 1
PRKN 1 0 0 0 0 1
PRODH 0 1 0 0 0 1
PROKR2 1 0 0 0 0 1
PRORP, PRORP-PSMA6 0 0 1 0 0 1
PROSER1 0 0 1 0 0 1
PRPF3 1 0 0 0 0 1
PRPF31, TFPT 1 0 0 0 0 1
PRPF4 0 0 1 0 0 1
PRPH, TROAP 0 1 0 0 0 1
PRRX1 0 0 1 0 0 1
PRSS1, TRB 1 0 0 0 0 1
PRUNE1 0 0 0 1 0 1
PSAT1 0 1 0 0 0 1
PSMB10 1 0 0 0 0 1
PSMC5 0 1 0 0 0 1
PSMD12 1 0 0 0 0 1
PTDSS1 0 1 0 0 0 1
PTPN4 0 1 0 0 0 1
PTPRQ 0 0 1 0 0 1
PUS7 1 0 0 0 0 1
PXDN 0 0 1 0 0 1
QRSL1 0 0 1 0 0 1
RAB11B 0 0 1 0 0 1
RAB3GAP2 1 0 0 0 0 1
RAB5C 0 0 1 0 0 1
RAB7A 0 0 1 0 0 1
RAC2 0 0 1 0 0 1
RAD21 0 0 1 0 0 1
RAD51 0 0 1 0 0 1
RAD51D, RAD51L3-RFFL 0 0 1 0 0 1
RAD54B 0 0 1 0 0 1
RANBP2 1 0 0 0 0 1
RAP1B 0 0 1 0 0 1
RAPSN 1 0 0 0 0 1
RAX 0 1 0 0 0 1
RBL2 1 0 0 0 0 1
RBM10 0 1 0 0 0 1
RBM20 1 0 0 0 0 1
RBM8A 0 1 0 0 0 1
RBP4 0 0 1 0 0 1
RBSN 0 0 1 0 0 1
RC3H1 0 0 1 0 0 1
RCBTB1 1 0 0 0 0 1
RDX 0 1 0 0 0 1
RELA, SIPA1 0 1 0 0 0 1
RELN 0 0 0 1 0 1
REST 0 0 0 1 0 1
RFX3 0 0 1 0 0 1
RFXANK 0 0 1 0 0 1
RGR 0 0 1 0 0 1
RGS9 0 0 0 1 0 1
RGS9BP 0 1 0 0 0 1
RIPOR2 0 0 1 0 0 1
RNASEH2C 1 0 0 0 0 1
RNF2 0 0 1 0 0 1
RNPC3 0 0 1 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 0 1
ROBO4 0 1 0 0 0 1
RPS15A 1 0 0 0 0 1
RPS17 0 1 0 0 0 1
RRM1 0 1 0 0 0 1
RSPH1 0 0 1 0 0 1
RSPH4A 1 0 0 0 0 1
RSPH9 1 0 0 0 0 1
RXYLT1 1 0 0 0 0 1
SALL4 0 1 0 0 0 1
SARDH 0 0 1 0 0 1
SARS2 0 1 0 0 0 1
SC5D 0 0 1 0 0 1
SCAMP5 0 0 1 0 0 1
SCAPER 0 0 0 1 0 1
SCARB2 1 0 0 0 0 1
SCARF2 1 0 0 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCNN1B 0 0 1 0 0 1
SCNN1G 0 0 1 0 0 1
SCYL2 0 1 0 0 0 1
SDCCAG8 1 0 0 0 0 1
SEC23A 0 1 0 0 0 1
SEC24D 0 1 0 0 0 1
SEC63 0 1 0 0 0 1
SEPHS1 0 1 1 0 0 1
SERPINA7 0 1 0 0 0 1
SERPINI1 0 0 1 0 0 1
SF3B1 0 1 0 0 0 1
SF3B2 0 1 0 0 0 1
SH3BP2 0 0 1 0 0 1
SHH 0 1 0 0 0 1
SHOX 0 1 0 0 0 1
SHROOM4 0 1 0 0 0 1
SI 0 0 1 0 0 1
SIK1 0 1 0 0 0 1
SIN3B 0 1 0 0 0 1
SKI 0 0 1 0 0 1
SLC10A7 1 0 0 0 0 1
SLC12A5 0 0 1 0 0 1
SLC16A1 1 0 0 0 0 1
SLC17A5 1 0 0 0 0 1
SLC17A8 0 0 1 0 0 1
SLC18A2 0 0 1 0 0 1
SLC19A2 1 0 0 0 0 1
SLC25A1 1 0 0 0 0 1
SLC25A19 0 0 1 0 0 1
SLC25A21 1 0 0 0 0 1
SLC25A3 1 0 0 0 0 1
SLC25A38 1 0 0 0 0 1
SLC25A42 1 0 0 0 0 1
SLC27A4 0 0 1 0 0 1
SLC2A9 1 0 0 0 0 1
SLC30A10 0 0 1 0 0 1
SLC33A1 0 0 1 0 0 1
SLC34A2 0 1 0 0 0 1
SLC39A14 1 0 0 0 0 1
SLC44A1 1 0 0 0 0 1
SLC4A10 1 0 0 0 0 1
SLC4A4 0 0 1 0 0 1
SLC5A5 1 0 0 0 0 1
SLC6A19 0 0 1 0 0 1
SLC6A5 1 0 0 0 0 1
SLC6A9 0 0 1 0 0 1
SLCO1B3, SLCO1B3-SLCO1B7 1 0 0 0 0 1
SMAD3 0 0 1 0 0 1
SMARCC1 0 1 0 0 0 1
SMCHD1 0 1 0 0 0 1
SMOC1 0 1 0 0 0 1
SNRPB 0 1 0 0 0 1
SOST 1 0 0 0 0 1
SOX2, SOX2-OT 0 1 0 0 0 1
SOX3 0 0 1 0 0 1
SPINK1 1 0 0 0 0 1
SPINT2 0 0 1 0 0 1
SPTLC1 0 0 1 0 0 1
SRD5A3 0 1 0 0 0 1
SREBF1 1 0 0 0 0 1
SRGAP1 0 0 1 0 0 1
SSR4 0 1 0 0 0 1
STAB1 0 0 1 0 0 1
STAG3 1 0 0 0 0 1
STAT5B 0 0 1 0 0 1
STING1 0 1 0 0 0 1
STK4 1 0 0 0 0 1
STRA6 0 1 0 0 0 1
STX11 0 1 0 0 0 1
STX1B 1 0 0 0 0 1
STX3 1 0 0 0 0 1
SUFU 0 1 0 0 0 1
SV2A 1 0 0 0 0 1
SYK 0 0 1 0 0 1
SYN3, TIMP3 0 0 1 0 0 1
SYNCRIP 0 0 1 0 0 1
SYT2 0 0 1 0 0 1
TACO1 1 0 0 0 0 1
TAF8 1 0 0 0 0 1
TAP1 1 0 0 0 0 1
TAT 1 0 0 0 0 1
TBX19 1 0 0 0 0 1
TBX2 0 1 0 0 0 1
TBX3 0 1 0 0 0 1
TBX4 1 0 0 0 0 1
TBXAS1 0 1 0 0 0 1
TCAP 0 1 0 0 0 1
TCTN2 0 0 0 1 0 1
TECRL 1 0 0 0 0 1
TENM4 0 0 1 0 0 1
TFAP2B 0 0 1 0 0 1
TGFB1 0 1 0 0 0 1
TGM6 0 1 0 0 0 1
THPO 0 0 1 0 0 1
THRA 0 0 1 0 0 1
TIMM50 0 1 0 0 0 1
TINF2 1 0 0 0 0 1
TKT 0 0 1 0 0 1
TMEM163 0 0 1 0 0 1
TMEM237 1 0 0 0 0 1
TMEM240 0 1 0 0 0 1
TMPRSS15 1 0 0 0 0 1
TNFRSF9 0 0 1 0 0 1
TNFSF11 0 1 0 0 0 1
TNPO3 0 0 1 0 0 1
TNR 0 0 0 1 0 1
TOGARAM1 0 0 1 0 0 1
TOMM70 0 0 1 0 0 1
TOP2B 0 0 1 0 0 1
TOR1A 1 0 0 0 0 1
TPI1 0 0 1 0 0 1
TPK1 0 0 1 0 0 1
TPP2 0 1 0 0 0 1
TPR 0 0 1 0 0 1
TRA2B 0 0 1 0 0 1
TRAF3IP1 0 0 0 1 0 1
TRAIP 0 0 1 0 0 1
TRAPPC10 0 0 1 0 0 1
TRIM37 1 0 0 0 0 1
TRIP4 0 1 0 0 0 1
TRIT1 0 0 1 0 0 1
TRMT1 1 0 0 0 0 1
TRMT5 1 0 0 0 0 1
TRNT1 0 0 1 0 0 1
TRPM4 0 0 1 0 0 1
TRPV3 0 0 1 0 0 1
TSFM 0 0 0 1 0 1
TSHB 1 0 0 0 0 1
TTC19 0 0 1 0 0 1
TTC7A 0 0 0 1 0 1
TTLL5 1 0 0 0 0 1
TTPA 1 0 0 0 0 1
TWIST2 1 0 0 0 0 1
TYK2 0 1 0 0 0 1
U2AF2 0 1 0 0 0 1
UBA2 0 0 0 1 0 1
UBE3C 0 0 1 0 0 1
UBE4A 1 0 0 0 0 1
UBR5 0 1 0 0 0 1
UGP2 1 0 0 0 0 1
UMPS 1 0 0 0 0 1
UNC13A 1 0 0 0 0 1
UNG 1 0 0 0 0 1
UPF3B 0 0 1 0 0 1
UROC1 1 0 0 0 0 1
USP34-DT, XPO1 0 0 1 0 0 1
VAMP2 0 0 1 0 0 1
VMA21 0 0 1 0 0 1
VPS11 0 0 1 0 0 1
VPS16 1 0 0 0 0 1
VPS35 1 0 0 0 0 1
VPS45 0 1 0 0 0 1
VPS51 0 0 1 0 0 1
VWA8 0 0 1 0 0 1
WBP4 1 0 0 0 0 1
WDR4 0 0 0 1 0 1
WDR44 0 0 1 0 0 1
WHRN 0 0 0 1 0 1
WNT2B 0 0 1 0 0 1
WNT5A 0 1 0 0 0 1
XRCC1 0 0 1 0 0 1
YARS1 0 1 0 0 0 1
ZBTB24 1 0 0 0 0 1
ZFHX3 0 0 1 0 0 1
ZMYM3 0 1 0 0 0 1
ZNF148 0 0 1 0 0 1
ZNF335 0 0 0 1 0 1
ZNF408 1 0 0 0 0 1
ZNF423 0 0 1 0 0 1
ZNF699 0 0 1 0 0 1
ZNF711 0 0 1 0 0 1
ZNF808 0 1 0 0 0 1
ZNRF3 0 0 1 0 0 1
ZRSR2 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 3663
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neurofibromatosis, type 1 102 37 21 0 0 160
X-linked Alport syndrome 20 52 26 0 0 98
Hypertrophic cardiomyopathy 4 47 18 19 0 0 84
Autosomal recessive Alport syndrome 20 25 34 0 0 79
Hypertrophic cardiomyopathy 1 30 26 19 0 0 75
Marfan syndrome 23 29 18 0 0 70
Polycystic kidney disease, adult type 28 18 20 0 0 66
Duchenne muscular dystrophy 36 19 9 0 0 64
Kabuki syndrome 1 26 19 18 0 0 63
Tuberous sclerosis 2 27 20 13 0 0 60
CHARGE syndrome 31 16 12 0 0 59
Ataxia-telangiectasia syndrome 39 9 10 0 0 58
Coffin-Siris syndrome 1 24 24 3 1 0 52
Retinitis pigmentosa 25 26 12 13 0 0 51
Retinitis pigmentosa 3 16 29 6 0 0 51
Wiedemann-Steiner syndrome 17 19 8 4 0 48
KBG syndrome 22 15 4 4 0 45
Severe myoclonic epilepsy in infancy 15 16 14 0 0 45
Retinitis pigmentosa 39 17 15 12 0 0 44
Severe early-childhood-onset retinal dystrophy 20 18 6 0 0 44
Noonan syndrome 1 35 3 2 0 0 40
Cystic fibrosis 24 4 10 0 0 38
Phenylketonuria 33 3 2 0 0 38
Rett syndrome 19 14 4 0 0 37
Fabry disease 11 13 9 2 0 35
Sotos syndrome 12 15 7 1 0 35
Alport syndrome 3b, autosomal recessive 6 16 12 0 0 34
Developmental and epileptic encephalopathy, 11 7 13 14 0 0 34
Developmental and epileptic encephalopathy, 7 11 17 6 0 0 34
Dilated cardiomyopathy 1G 12 17 5 0 0 34
Familial hypokalemia-hypomagnesemia 20 8 6 0 0 34
Wilson disease 23 5 6 0 0 34
Retinitis pigmentosa 19 21 6 5 0 0 32
Autosomal recessive limb-girdle muscular dystrophy type 2A 13 12 6 0 0 31
Metachromatic leukodystrophy 13 7 10 1 0 31
Propionic acidemia 11 7 12 1 0 31
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 11 11 8 0 0 30
Polycystic kidney disease 4 10 10 10 0 0 30
Usher syndrome type 2A 18 9 2 0 0 29
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 12 7 8 1 0 28
Congenital multicore myopathy with external ophthalmoplegia 8 5 14 1 0 28
Cornelia de Lange syndrome 1 6 14 8 0 0 28
Glycogen storage disease, type II 16 5 7 0 0 28
SCN1A-related disorder 9 11 8 0 0 28
Tyrosinase-positive oculocutaneous albinism 4 14 10 0 0 28
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 6 12 6 3 0 27
Cohen syndrome 14 4 8 1 0 27
Developmental and epileptic encephalopathy, 13 7 8 12 0 0 27
Hypercholesterolemia, familial, 1 15 9 3 0 0 27
Adrenoleukodystrophy 7 9 10 0 0 26
Developmental and epileptic encephalopathy, 2 8 9 8 1 0 26
Autosomal recessive nonsyndromic hearing loss 3 7 7 11 0 0 25
Hereditary factor VIII deficiency disease 12 11 2 0 0 25
Usher syndrome type 1 15 7 3 0 0 25
Asphyxiating thoracic dystrophy 3 3 10 11 0 0 24
Glutaric aciduria, type 1 10 8 6 0 0 24
Progressive familial intrahepatic cholestasis type 2 8 1 15 0 0 24
Rubinstein-Taybi syndrome due to CREBBP mutations 4 15 5 0 0 24
Snijders Blok-Campeau syndrome 3 6 14 1 0 24
Autosomal recessive nonsyndromic hearing loss 12 5 4 14 0 0 23
Bethlem myopathy 1A 13 6 4 0 0 23
Developmental and epileptic encephalopathy, 4 10 6 7 0 0 23
Merosin deficient congenital muscular dystrophy 17 3 3 0 0 23
Mowat-Wilson syndrome 9 10 3 1 0 23
Retinitis pigmentosa 1 6 14 3 0 0 23
Thyroid dyshormonogenesis 6 8 5 10 0 0 23
Treacher Collins syndrome 1 5 14 4 0 0 23
COL2A1-related disorder 9 6 7 0 0 22
Cardiomyopathy, familial hypertrophic 27 12 10 0 0 0 22
Cowden syndrome 1 9 8 5 0 0 22
Hereditary spastic paraplegia 4 11 7 4 0 0 22
Recessive dystrophic epidermolysis bullosa 11 4 7 0 0 22
ABCA4-related disorder 13 7 1 0 0 21
Charlevoix-Saguenay spastic ataxia 5 12 4 0 0 21
Galactosylceramide beta-galactosidase deficiency 10 1 10 0 0 21
Juvenile retinoschisis 9 10 2 0 0 21
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 7 10 4 0 0 21
Severe intellectual disability-progressive spastic diplegia syndrome 10 10 1 0 0 21
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 7 5 1 7 0 20
Alagille syndrome due to a JAG1 point mutation 9 8 3 0 0 20
Glycogen storage disease type III 12 4 3 1 0 20
Microcephaly 5, primary, autosomal recessive 14 3 1 2 0 20
Familial hemophagocytic lymphohistiocytosis 3 10 3 5 1 0 19
Niemann-Pick disease, type C1 10 5 4 0 0 19
Pyruvate kinase deficiency of red cells 5 3 11 0 0 19
Retinitis pigmentosa 14 8 5 6 0 0 19
COL1A1-related disorder 11 3 4 0 0 18
Developmental and epileptic encephalopathy, 42 6 8 4 0 0 18
Familial X-linked hypophosphatemic vitamin D refractory rickets 9 7 2 0 0 18
Finnish congenital nephrotic syndrome 5 4 8 1 0 18
Intellectual disability, X-linked 102 6 10 2 0 0 18
Muscular dystrophy, limb-girdle, autosomal recessive 23 7 4 7 0 0 18
Noonan syndrome 4 11 5 2 0 0 18
Retinitis pigmentosa 11 7 8 3 0 0 18
Retinitis pigmentosa 12 5 7 6 0 0 18
Autosomal recessive nonsyndromic hearing loss 4 11 5 1 0 0 17
Brain small vessel disease 1 with or without ocular anomalies 5 3 9 0 0 17
FOXG1 disorder 5 12 0 0 0 17
Generalized epilepsy with febrile seizures plus, type 2 6 6 5 0 0 17
Hereditary spastic paraplegia 11 11 4 2 0 0 17
Hyperinsulinemic hypoglycemia, familial, 1 8 5 4 0 0 17
Intellectual disability, autosomal dominant 5 8 6 2 1 0 17
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 12 1 4 0 0 17
Osteogenesis imperfecta type I 14 1 2 0 0 17
Osteogenesis imperfecta with normal sclerae, dominant form 9 6 2 0 0 17
Pitt-Hopkins syndrome 9 5 3 0 0 17
Pyruvate dehydrogenase E1-alpha deficiency 4 9 4 0 0 17
Retinitis pigmentosa 40 7 5 5 0 0 17
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 7 9 1 0 0 17
Tuberous sclerosis 1 7 9 1 0 0 17
Autosomal recessive bestrophinopathy 10 4 2 0 0 16
Autosomal recessive nonsyndromic hearing loss 1A 12 2 2 0 0 16
Beta-thalassemia HBB/LCRB 14 1 1 0 0 16
Cardiofaciocutaneous syndrome 1 13 3 0 0 0 16
Central core myopathy 2 6 8 0 0 16
Fanconi anemia complementation group A 11 4 1 0 0 16
Infantile neuroaxonal dystrophy 5 3 8 0 0 16
Maple syrup urine disease type 1A 6 4 5 1 0 16
Maturity-onset diabetes of the young type 2 6 7 3 0 0 16
Neurodegeneration with brain iron accumulation 5 11 3 2 0 0 16
Osteogenesis imperfecta type III 7 6 3 0 0 16
PMM2-congenital disorder of glycosylation 9 6 1 0 0 16
Tyrosinemia type I 4 3 9 0 0 16
Autosomal recessive limb-girdle muscular dystrophy type 2B 8 4 3 0 0 15
Chromosome 2q32-q33 deletion syndrome 8 5 2 0 0 15
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 5 7 3 0 0 15
DYRK1A-related intellectual disability syndrome 9 5 1 0 0 15
Developmental delay with or without dysmorphic facies and autism 1 1 13 0 0 15
Hereditary spastic paraplegia 7 9 3 3 0 0 15
Hereditary spherocytosis type 1 2 6 7 0 0 15
Hypertrophic cardiomyopathy 7 5 5 5 0 0 15
Intellectual disability, X-linked syndromic, Turner type 2 3 10 0 0 15
Intellectual disability, autosomal dominant 13 1 7 7 0 0 15
Intellectual disability-severe speech delay-mild dysmorphism syndrome 4 6 5 0 0 15
Landau-Kleffner syndrome 4 4 4 3 0 15
Mucopolysaccharidosis, MPS-IV-A 8 3 4 0 0 15
Noonan syndrome 5 6 0 9 0 0 15
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 6 7 2 0 0 15
Polycystic kidney disease 2 6 6 3 0 0 15
Retinitis pigmentosa 4 9 3 3 0 0 15
Ullrich congenital muscular dystrophy 1A 9 3 3 0 0 15
Androgen resistance syndrome 4 8 2 0 0 14
Au-Kline syndrome 2 7 5 0 0 14
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 4 6 1 3 0 14
Combined immunodeficiency due to LRBA deficiency 6 4 3 1 0 14
Dystonia 5 6 2 6 0 0 14
Hypertrophic cardiomyopathy 26 4 9 1 0 0 14
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 5 7 2 0 0 14
Intellectual disability-hypotonic facies syndrome, X-linked, 1 5 1 8 0 0 14
Nemaline myopathy 2 9 4 1 0 0 14
Nephrotic syndrome, type 2 5 6 3 0 0 14
Sandhoff disease 8 3 3 0 0 14
Usher syndrome type 2C 4 6 4 0 0 14
Achromatopsia 2 7 6 0 0 0 13
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 7 4 2 0 0 13
Autosomal recessive congenital ichthyosis 1 4 4 5 0 0 13
Charcot-Marie-Tooth disease type 2A2 7 2 4 0 0 13
Ciliary dyskinesia, primary, 40 2 3 8 0 0 13
Cone dystrophy 4 8 2 3 0 0 13
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 9 0 4 0 0 13
Developmental and epileptic encephalopathy, 14 5 3 4 1 0 13
Exostoses, multiple, type 1 7 4 0 2 0 13
Glycine encephalopathy 3 2 8 0 0 13
Hereditary spherocytosis type 2 1 12 0 0 0 13
Intellectual disability, autosomal dominant 50 5 4 4 0 0 13
Intellectual disability, autosomal dominant 57 3 6 4 0 0 13
Intellectual disability, autosomal dominant 9 5 5 3 0 0 13
Kleefstra syndrome 2 0 5 5 3 0 13
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 5 6 2 0 13
Primary ciliary dyskinesia 3 6 1 6 0 0 13
Progressive familial intrahepatic cholestasis type 3 3 4 6 0 0 13
Syndromic X-linked intellectual disability Claes-Jensen type 1 3 9 0 0 13
Syndromic X-linked intellectual disability Najm type 5 7 1 0 0 13
Wolfram syndrome 1 4 6 3 0 0 13
3M syndrome 1 4 4 1 3 0 12
Allan-Herndon-Dudley syndrome 3 4 5 0 0 12
Amyotrophic lateral sclerosis type 1 3 6 3 0 0 12
Angelman syndrome 2 6 3 1 0 12
Autosomal recessive DOPA responsive dystonia 5 4 3 0 0 12
Autosomal recessive osteopetrosis 1 6 4 2 0 0 12
Citrullinemia type I 5 4 3 0 0 12
Congenital myotonia, autosomal recessive form 6 3 3 0 0 12
Cornelia de Lange syndrome 3 1 3 8 0 0 12
Cystinuria 3 3 6 0 0 12
Developmental and epileptic encephalopathy 6B 2 5 5 0 0 12
Dystonia 28, childhood-onset 3 4 5 0 0 12
Familial juvenile hyperuricemic nephropathy type 1 1 9 2 0 0 12
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 7 2 3 0 0 12
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 4 5 3 0 0 12
Kleefstra syndrome 1 7 4 1 0 0 12
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 5 3 4 0 0 12
Megalencephaly-capillary malformation-polymicrogyria syndrome 8 4 0 0 0 12
Mucopolysaccharidosis, MPS-III-B 7 2 2 1 0 12
Multiple acyl-CoA dehydrogenase deficiency 5 3 4 0 0 12
Netherton syndrome 9 2 1 0 0 12
Neurofibromatosis-Noonan syndrome 6 2 4 0 0 12
Nicolaides-Baraitser syndrome 2 7 3 0 0 12
Progressive sclerosing poliodystrophy 3 3 6 0 0 12
Retinitis pigmentosa 2 3 7 2 0 0 12
Stickler syndrome type 1 7 3 2 0 0 12
ZTTK syndrome 5 6 1 0 0 12
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 3 5 1 2 0 11
Bartter disease type 1 3 3 5 0 0 11
Catecholaminergic polymorphic ventricular tachycardia 1 1 3 7 0 0 11
Charcot-Marie-Tooth disease type 4C 7 3 1 0 0 11
Coffin-Siris syndrome 6 2 8 0 1 0 11
Deficiency of iodide peroxidase 4 3 4 0 0 11
Developmental and epileptic encephalopathy 94 3 7 1 0 0 11
Developmental and epileptic encephalopathy, 9 4 4 3 0 0 11
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 8 2 0 0 11
Hereditary insensitivity to pain with anhidrosis 5 3 1 2 0 11
Hypohidrotic X-linked ectodermal dysplasia 5 4 2 0 0 11
Intellectual developmental disorder 62 4 3 4 0 0 11
Intellectual developmental disorder with autism and macrocephaly 1 5 5 0 0 11
Koolen-de Vries syndrome 1 6 3 1 0 11
Macrocephaly-autism syndrome 5 3 3 0 0 11
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 6 2 3 0 0 11
Mitochondrial complex I deficiency, nuclear type 17 1 4 6 0 0 11
Miyoshi muscular dystrophy 1 5 2 4 0 0 11
Nephrotic syndrome, type 9 3 5 3 0 0 11
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 5 5 0 0 11
Pigmentary retinal dystrophy 2 6 3 0 0 11
Poirier-Bienvenu neurodevelopmental syndrome 5 4 2 0 0 11
Renal cysts and diabetes syndrome 4 3 4 0 0 11
Retinitis pigmentosa 20 6 3 2 0 0 11
Retinitis pigmentosa 43 6 2 3 0 0 11
Retinitis pigmentosa 54 7 1 3 0 0 11
Succinate-semialdehyde dehydrogenase deficiency 6 0 4 1 0 11
Tay-Sachs disease 8 0 3 0 0 11
Adams-Oliver syndrome 2 4 1 2 3 0 10
Alstrom syndrome 7 2 1 0 0 10
Autism spectrum disorder due to AUTS2 deficiency 1 4 4 1 0 10
Autosomal dominant optic atrophy classic form 4 1 5 0 0 10
Autosomal recessive limb-girdle muscular dystrophy type 2J 5 1 4 0 0 10
Bartter disease type 3 5 0 5 0 0 10
Biotinidase deficiency 5 3 2 0 0 10
COL1A2-related disorder 1 7 2 0 0 10
Choroideremia 5 5 0 0 0 10
Congenital hyperammonemia, type I 2 1 5 2 0 10
DeSanto-Shinawi syndrome due to WAC point mutation 3 6 0 1 0 10
Deficiency of steroid 11-beta-monooxygenase 6 2 2 0 0 10
Developmental and epileptic encephalopathy, 31A 2 1 7 0 0 10
Developmental delay, impaired speech, and behavioral abnormalities 1 2 7 0 0 10
Epilepsy with myoclonic atonic seizures 2 5 2 1 0 10
Familial Mediterranean fever 6 0 3 0 1 10
Familial cancer of breast 5 1 4 0 0 10
Hereditary spastic paraplegia 3A 2 2 6 0 0 10
Hypertrophic cardiomyopathy 3 2 2 6 0 0 10
Hypomyelinating leukodystrophy 6 5 3 2 0 0 10
Hypotonia, ataxia, and delayed development syndrome 3 3 4 0 0 10
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 6 0 3 1 0 10
Intellectual developmental disorder with seizures and language delay 1 5 4 0 0 10
Intellectual developmental disorder, autosomal dominant 64 2 7 1 0 0 10
Intellectual disability, autosomal dominant 16 4 3 3 0 0 10
Joubert syndrome 9 2 1 7 0 0 10
Leber congenital amaurosis 13 5 3 2 0 0 10
Leber congenital amaurosis 2 6 3 1 0 0 10
Loeys-Dietz syndrome 2 1 5 4 0 0 10
Lowe syndrome 3 2 5 0 0 10
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 6 3 0 0 10
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 3 4 2 1 0 10
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 6 3 1 0 0 10
Mucopolysaccharidosis, MPS-III-A 6 0 4 0 0 10
Nephropathic cystinosis 7 2 1 0 0 10
Nephrotic syndrome, IIa 26 1 2 7 0 0 10
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 8 1 0 10
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 2 8 0 0 10
Neuronal ceroid lipofuscinosis 2 5 1 4 0 0 10
Noonan syndrome 3 6 1 3 0 0 10
Noonan syndrome 8 7 1 1 1 0 10
Okur-Chung neurodevelopmental syndrome 2 6 2 0 0 10
Rauch-Steindl syndrome 2 5 3 0 0 10
Schaaf-Yang syndrome 3 7 0 0 0 10
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 3 6 1 0 0 10
Usher syndrome type 1D 6 1 3 0 0 10
3M syndrome 2 4 1 0 4 0 9
46,XY sex reversal 3 3 0 6 0 0 9
Achromatopsia 3 4 3 2 0 0 9
Alexander disease 5 2 2 0 0 9
Alternating hemiplegia of childhood 2 4 3 2 0 0 9
Aniridia 1 3 5 1 0 0 9
Argininosuccinate lyase deficiency 5 1 3 0 0 9
Autosomal recessive limb-girdle muscular dystrophy type 2D 3 4 2 0 0 9
Autosomal recessive nonsyndromic hearing loss 77 3 3 3 0 0 9
Bardet-Biedl syndrome 10 3 6 0 0 0 9
Bifunctional peroxisomal enzyme deficiency 5 1 3 0 0 9
Bohring-Opitz syndrome 4 5 0 0 0 9
Bosch-Boonstra-Schaaf optic atrophy syndrome 2 3 4 0 0 9
Charcot-Marie-Tooth disease X-linked dominant 1 3 4 2 0 0 9
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 3 6 0 0 0 9
Cobalamin C disease 4 4 1 0 0 9
Coffin-Lowry syndrome 2 4 3 0 0 9
Cone-rod dystrophy 2 3 5 1 0 0 9
Congenital myasthenic syndrome 8 1 0 0 8 0 9
DYSF-related disorder 6 2 1 0 0 9
Developmental and epileptic encephalopathy, 62 1 4 4 0 0 9
Dubin-Johnson syndrome 6 2 1 0 0 9
Dyskeratosis congenita, autosomal recessive 5 1 3 5 0 0 9
Ehlers-Danlos syndrome, type 4 6 2 1 0 0 9
Fraser syndrome 1 3 1 3 2 0 9
Giant axonal neuropathy 1 4 2 3 0 0 9
Glaucoma 3, primary congenital, E 0 5 4 0 0 9
Glaucoma 3A 4 4 1 0 0 9
Glycogen storage disease IXa1 2 5 2 0 0 9
Hypogonadotropic hypogonadism 2 with or without anosmia 2 4 3 0 0 9
Hypomyelinating leukodystrophy 10 4 1 4 0 0 9
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 7 2 0 0 0 9
Ichthyosis vulgaris 3 6 0 0 0 9
Intellectual disability, X-linked 1 1 5 3 0 0 9
Intellectual disability, X-linked 49 2 2 4 1 0 9
Intellectual disability, autosomal dominant 30 4 3 2 0 0 9
Intellectual disability, autosomal dominant 42 4 2 3 0 0 9
Joubert syndrome 5 6 3 0 0 0 9
Menkes kinky-hair syndrome 3 4 2 0 0 9
Myoclonic dystonia 11 5 0 4 0 0 9
Nephrotic syndrome, type 4 4 3 2 0 0 9
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 3 6 0 0 9
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 3 3 3 0 0 9
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2 5 1 1 0 9
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 6 3 0 0 9
Neuronal ceroid lipofuscinosis 3 4 0 4 1 0 9
Phelan-McDermid syndrome 3 4 1 1 0 9
Retinitis pigmentosa 45 5 3 1 0 0 9
Severe X-linked myotubular myopathy 7 0 2 0 0 9
TCF12-related craniosynostosis 4 3 2 0 0 9
X-linked agammaglobulinemia 3 2 4 0 0 9
X-linked intellectual disability Cabezas type 1 2 5 1 0 9
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 3 5 0 0 0 8
ALG1-congenital disorder of glycosylation 1 5 1 1 0 8
Arthrogryposis, distal, with impaired proprioception and touch 4 4 0 0 0 8
Auditory neuropathy-optic atrophy syndrome 1 4 3 0 0 8
Baraitser-Winter syndrome 1 3 4 1 0 0 8
Bietti crystalline corneoretinal dystrophy 3 2 3 0 0 8
Blepharophimosis, ptosis, and epicanthus inversus syndrome 2 4 2 0 0 8
Breast-ovarian cancer, familial, susceptibility to, 1 5 2 1 0 0 8
CTCF-related neurodevelopmental disorder 2 2 3 1 0 8
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 3 1 3 1 0 8
Cholestasis, progressive familial intrahepatic, 10 0 1 7 0 0 8
Cleidocranial dysostosis 3 3 2 0 0 8
Cockayne syndrome type 2 1 6 1 0 0 8
Congenital contractural arachnodactyly 1 2 5 0 0 8
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 2 5 0 0 8
Developmental and epileptic encephalopathy, 27 1 3 4 0 0 8
Dilated cardiomyopathy 1D 3 3 2 0 0 8
Early-onset myopathy with fatal cardiomyopathy 1 6 1 0 0 8
Ehlers-Danlos syndrome, classic type, 1 1 1 6 0 0 8
Eichsfeld type congenital muscular dystrophy 7 0 1 0 0 8
Encephalopathy due to GLUT1 deficiency 3 2 3 0 0 8
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 3 3 2 0 0 8
Epilepsy, familial focal, with variable foci 1 5 2 1 0 0 8
Exudative vitreoretinopathy 4 0 4 4 0 0 8
Exudative vitreoretinopathy 5 1 1 6 0 0 8
Familial hemophagocytic lymphohistiocytosis 2 6 1 1 0 0 8
Floating-Harbor syndrome 2 6 0 0 0 8
Focal segmental glomerulosclerosis 5 2 2 4 0 0 8
Focal segmental glomerulosclerosis 7 1 6 1 0 0 8
GNE myopathy 4 3 1 0 0 8
Hereditary spastic paraplegia 50 4 3 1 0 0 8
Histiocytic medullary reticulosis 1 5 2 0 0 8
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 1 4 2 1 0 8
Hypomyelinating leukodystrophy 2 1 4 3 0 0 8
Hypoparathyroidism, deafness, renal disease syndrome 2 3 3 0 0 8
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 8 0 0 0 0 8
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 1 2 5 0 0 8
Intellectual developmental disorder, autosomal dominant 72 1 7 0 0 0 8
Intellectual disability, X-linked, syndromic, Houge type 2 2 3 1 0 8
Intellectual disability, autosomal dominant 22 1 3 4 0 0 8
Intellectual disability, autosomal dominant 56 1 3 2 2 0 8
Intestinal hypomagnesemia 1 6 0 1 1 0 8
Leber congenital amaurosis 1 4 4 0 0 0 8
Leber congenital amaurosis 10 6 2 0 0 0 8
Leber congenital amaurosis 9 2 6 0 0 0 8
Lissencephaly due to TUBA1A mutation 2 1 5 0 0 8
Long QT syndrome 1 6 1 1 0 0 8
MELAS syndrome 4 4 0 0 0 8
Mandibulofacial dysostosis-microcephaly syndrome 3 5 0 0 0 8
Megalencephalic leukoencephalopathy with subcortical cysts 1 3 0 4 1 0 8
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 0 0 0 8 0 8
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 2 3 3 0 8
Neuronal ceroid lipofuscinosis 1 3 3 2 0 0 8
Noonan syndrome 7 5 2 1 0 0 8
Oculocutaneous albinism type 4 1 5 2 0 0 8
Ornithine carbamoyltransferase deficiency 3 0 5 0 0 8
Primrose syndrome 0 7 0 1 0 8
Pseudohypoparathyroidism type I A 3 2 3 0 0 8
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 3 3 2 0 0 8
Retinitis pigmentosa 41 3 3 2 0 0 8
SLC2A1-related disorder 2 3 3 0 0 8
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 5 3 0 0 0 8
Spondyloperipheral dysplasia 3 3 2 0 0 8
Syndromic X-linked intellectual disability 94 1 1 5 1 0 8
Aarskog syndrome 2 2 3 0 0 7
Amyloidosis, hereditary systemic 1 3 2 2 0 0 7
Autosomal recessive ataxia due to ubiquinone deficiency 4 3 0 0 0 7
Autosomal recessive multiple pterygium syndrome 5 0 2 0 0 7
Autosomal recessive nonsyndromic hearing loss 7 4 1 2 0 0 7
Autosomal recessive nonsyndromic hearing loss 8 3 2 2 0 0 7
Basal cell nevus syndrome 1 1 4 2 0 0 7
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 0 7 0 7
Chopra-Amiel-Gordon syndrome 1 2 3 1 0 7
Christianson syndrome 1 1 4 1 0 7
Cone-rod dystrophy 3 4 3 0 0 0 7
Congenital diarrhea 7 with exudative enteropathy 2 2 2 1 0 7
Congenital muscular hypertrophy-cerebral syndrome 4 2 1 0 0 7
Congenital stationary night blindness 1E 3 1 3 0 0 7
Deficiency of adenosine deaminase 2 3 1 3 0 0 7
Developmental and epileptic encephalopathy, 18 1 1 3 2 0 7
Developmental and epileptic encephalopathy, 54 2 4 1 0 0 7
Developmental delay and seizures with or without movement abnormalities 3 0 4 0 0 7
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 3 0 2 0 7
Dilated cardiomyopathy 1A 4 3 0 0 0 7
Dilated cardiomyopathy 1S 0 4 3 0 0 7
Exostoses, multiple, type 2 4 2 1 0 0 7
Growth delay due to insulin-like growth factor I resistance 0 4 3 0 0 7
H syndrome 5 1 0 1 0 7
Hajdu-Cheney syndrome 1 4 2 0 0 7
Hereditary spastic paraplegia 35 4 0 3 0 0 7
Hyperlipoproteinemia, type I 3 2 2 0 0 7
Intellectual developmental disorder 61 0 4 3 0 0 7
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 1 5 1 0 7
Intellectual disability, X-linked 104 0 2 5 0 0 7
Intellectual disability, X-linked, syndromic 33 0 1 6 0 0 7
Intellectual disability, autosomal dominant 52 0 4 3 0 0 7
Intellectual disability, autosomal dominant 6 3 4 0 0 0 7
Intellectual disability, autosomal recessive 57 3 2 2 0 0 7
Isolated cryptophthalmia; Fraser syndrome 2 0 0 0 7 0 7
Kabuki syndrome 2 2 5 0 0 0 7
Leber congenital amaurosis 4 1 4 2 0 0 7
Leber congenital amaurosis 8 3 4 0 0 0 7
Lissencephaly due to LIS1 mutation 3 3 1 0 0 7
Lissencephaly type 1 due to doublecortin gene mutation 2 2 3 0 0 7
Loeys-Dietz syndrome 1 2 3 2 0 0 7
Lymphatic malformation 6 2 0 5 0 0 7
Mitochondrial DNA depletion syndrome 9 1 1 3 2 0 7
Mitochondrial complex IV deficiency, nuclear type 1 2 3 2 0 0 7
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 4 0 3 0 0 7
Mucolipidosis type II 5 2 0 0 0 7
Mucopolysaccharidosis, MPS-II 2 2 2 1 0 7
Myopathy, proximal, and ophthalmoplegia 1 2 4 0 0 7
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 5 1 0 0 7
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 0 7 0 0 7
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 5 2 0 0 7
Neuronal ceroid lipofuscinosis 7 3 1 3 0 0 7
Oculocutaneous albinism type 1A 6 1 0 0 0 7
Ogden syndrome 3 3 1 0 0 7
Osteoporosis with pseudoglioma 2 3 2 0 0 7
Pretibial dystrophic epidermolysis bullosa 6 0 1 0 0 7
Proteinuria, chronic benign 1 2 4 0 0 7
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 2 5 0 0 0 7
Pyridoxine-dependent epilepsy 2 1 4 0 0 7
Renal carnitine transport defect 2 2 3 0 0 7
Renal coloboma syndrome 2 4 1 0 0 7
Renpenning syndrome 2 0 5 0 0 7
Retinitis pigmentosa 33 2 0 5 0 0 7
Retinitis pigmentosa 38 4 2 1 0 0 7
Retinitis pigmentosa 56 2 3 2 0 0 7
SIN3A-related intellectual disability syndrome due to a point mutation 1 4 1 1 0 7
Saethre-Chotzen syndrome 4 2 1 0 0 7
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2 5 0 0 0 7
Smith-Lemli-Opitz syndrome 4 2 1 0 0 7
Snijders blok-fisher syndrome 0 5 2 0 0 7
Spongy degeneration of central nervous system 4 2 1 0 0 7
Tatton-Brown-Rahman overgrowth syndrome 3 2 2 0 0 7
Telangiectasia, hereditary hemorrhagic, type 2 3 0 4 0 0 7
X-linked intellectual disability, Cantagrel type 2 4 0 1 0 7
3-hydroxyisobutyryl-CoA hydrolase deficiency 1 2 2 1 0 6
ATP1A3-related disorder 4 1 1 0 0 6
Acromesomelic dysplasia 1, Maroteaux type 1 4 1 0 0 6
Arginase deficiency 4 1 1 0 0 6
Arrhythmogenic right ventricular dysplasia 8 4 2 0 0 0 6
Arthrogryposis, renal dysfunction, and cholestasis 1 5 1 0 0 0 6
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 2 2 2 0 0 6
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 2 2 2 0 0 6
Autosomal dominant nonsyndromic hearing loss 20 1 2 3 0 0 6
Autosomal recessive congenital ichthyosis 4A 2 1 3 0 0 6
Autosomal recessive inherited pseudoxanthoma elasticum 4 1 1 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2L 4 2 0 0 0 6
Autosomal recessive nonsyndromic hearing loss 21 1 0 5 0 0 6
Axenfeld-Rieger syndrome type 3 1 5 0 0 0 6
Benign familial hematuria 0 3 3 0 0 6
Bloom syndrome 5 1 0 0 0 6
CODAS syndrome 0 1 3 2 0 6
COL7A1-related disorder 3 3 0 0 0 6
Cardiofaciocutaneous syndrome 3 3 2 1 0 0 6
Cerebellar atrophy with seizures and variable developmental delay 3 0 0 3 0 6
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 5 0 0 6
Cerebroretinal microangiopathy with calcifications and cysts 1 2 1 3 0 0 6
Ceroid lipofuscinosis, neuronal, 6A 2 3 1 0 0 6
Charcot-Marie-Tooth disease axonal type 2T 3 1 2 0 0 6
Cholestanol storage disease 4 2 0 0 0 6
Complex cortical dysplasia with other brain malformations 1 1 4 1 0 0 6
Congenital disorder of deglycosylation 1 3 2 1 0 0 6
Congenital glucose-galactose malabsorption 1 1 4 0 0 6
Congenital myasthenic syndrome 4C 3 3 0 0 0 6
Cornelia de Lange syndrome 5 1 3 1 1 0 6
Deficiency of hydroxymethylglutaryl-CoA lyase 4 1 1 0 0 6
Desmin-related myofibrillar myopathy 2 1 3 0 0 6
Developmental and epileptic encephalopathy, 16 2 0 4 0 0 6
Developmental and epileptic encephalopathy, 19 1 2 3 0 0 6
Developmental and epileptic encephalopathy, 32 2 1 3 0 0 6
Developmental and epileptic encephalopathy, 35 5 0 1 0 0 6
Developmental and epileptic encephalopathy, 43 3 3 0 0 0 6
Developmental and epileptic encephalopathy, 5 1 2 3 0 0 6
Developmental and epileptic encephalopathy, 64 1 1 3 1 0 6
Developmental and epileptic encephalopathy, 65 2 1 2 1 0 6
Developmental and epileptic encephalopathy, 76 3 0 3 0 0 6
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2 3 1 0 0 6
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 2 4 0 0 6
Diabetes insipidus, nephrogenic, X-linked 2 3 1 0 0 6
Diamond-Blackfan anemia 6 2 4 0 0 0 6
Distal arthrogryposis type 5D 3 1 2 0 0 6
Ellis-van Creveld syndrome 5 0 0 1 0 6
Epilepsy, familial focal, with variable foci 3 2 2 2 0 0 6
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 3 0 3 0 0 6
Focal segmental glomerulosclerosis 2 1 1 4 0 0 6
Fructose-biphosphatase deficiency 3 2 1 0 0 6
Fumarase deficiency 0 3 2 1 0 6
Glanzmann thrombasthenia 1 3 0 3 0 0 6
Global developmental delay 0 3 3 0 0 6
Global developmental delay with speech and behavioral abnormalities 3 2 0 1 0 6
Glucocorticoid deficiency 4 3 2 1 0 0 6
Glycogen storage disease, type VI 1 0 5 0 0 6
Glycogen storage disorder due to hepatic glycogen synthase deficiency 4 1 1 0 0 6
Gorlin syndrome 1 5 0 0 0 6
Hemolytic uremic syndrome, atypical, susceptibility to, 1 1 1 4 0 0 6
Hereditary factor IX deficiency disease 4 2 0 0 0 6
Hereditary fructosuria 6 0 0 0 0 6
Hereditary spastic paraplegia 10 1 0 5 0 0 6
Hereditary spastic paraplegia 30 2 3 1 0 0 6
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 3 2 0 0 6
Houge-Janssens syndrome 1 3 3 0 0 0 6
Houge-Janssens syndrome 2 3 1 2 0 0 6
Hurler syndrome 3 2 1 0 0 6
Hyper-IgM syndrome type 1 1 3 2 0 0 6
Hyperlipoproteinemia, type 1D 0 3 3 0 0 6
Hypertrophic cardiomyopathy 14 0 1 5 0 0 6
Hypochondroplasia 5 0 1 0 0 6
Immunodeficiency, common variable, 2 4 1 1 0 0 6
Intellectual developmental disorder with autism and speech delay 2 2 1 1 0 6
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 2 4 0 0 6
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 3 1 2 0 0 6
Intellectual disability, X-linked 99, syndromic, female-restricted 0 4 2 0 0 6
Intellectual disability, autosomal dominant 1 1 3 2 0 0 6
Intellectual disability, autosomal dominant 29 2 3 1 0 0 6
Intellectual disability, autosomal dominant 39 2 3 1 0 0 6
Intellectual disability, autosomal dominant 43 1 0 4 1 0 6
Intellectual disability, autosomal dominant 54 2 0 4 0 0 6
Iodotyrosyl coupling defect 3 1 2 0 0 6
Isovaleryl-CoA dehydrogenase deficiency 3 1 2 0 0 6
Joubert syndrome 17 1 2 3 0 0 6
Joubert syndrome 3 6 0 0 0 0 6
Leber congenital amaurosis 3 2 3 0 1 0 6
Legius syndrome 3 2 1 0 0 6
Lessel-Kreienkamp syndrome 1 1 3 1 0 6
Liang-Wang syndrome 0 2 4 0 0 6
Luscan-Lumish syndrome 1 2 3 0 0 6
Malan overgrowth syndrome 1 5 0 0 0 6
Medium-chain acyl-coenzyme A dehydrogenase deficiency 4 1 1 0 0 6
Methylmalonic aciduria, cblB type 0 2 4 0 0 6
Microcephalic osteodysplastic primordial dwarfism type II 3 0 0 3 0 6
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 3 0 3 0 0 6
Mitochondrial complex I deficiency, nuclear type 4 2 1 2 1 0 6
Moyamoya disease 2 1 0 5 0 0 6
Nephrotic syndrome, type 3 4 0 0 2 0 6
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 1 4 0 0 6
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 3 2 0 0 6
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 3 3 0 0 6
Neurodevelopmental disorder with involuntary movements 2 1 3 0 0 6
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 3 0 2 1 0 6
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 4 2 0 0 6
Niemann-Pick disease, type A 5 0 1 0 0 6
Noonan syndrome 10 4 0 2 0 0 6
PIK3CA-related disorder 3 2 1 0 0 6
PRPH2-related disorder 2 3 1 0 0 6
Pigmentary pallidal degeneration 3 1 2 0 0 6
Platelet-type bleeding disorder 10 4 1 1 0 0 6
Primary ciliary dyskinesia 7 1 0 5 0 0 6
Pyruvate carboxylase deficiency 1 1 4 0 0 6
Renal tubular acidosis with progressive nerve deafness 3 1 2 0 0 6
Retinitis pigmentosa 13 1 1 4 0 0 6
Retinitis pigmentosa 26 1 2 3 0 0 6
Retinitis pigmentosa 7 1 4 1 0 0 6
SPTAN1-related disorder 0 1 5 0 0 6
Spinocerebellar ataxia type 29 2 1 3 0 0 6
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 0 1 5 0 0 6
Stickler syndrome, type I, nonsyndromic ocular 1 1 4 0 0 6
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 2 2 2 0 6
Telangiectasia, hereditary hemorrhagic, type 1 3 2 1 0 0 6
Very long chain acyl-CoA dehydrogenase deficiency 0 2 2 2 0 6
Vitamin D-dependent rickets, type 1A 3 2 1 0 0 6
Vitelliform macular dystrophy 2 2 2 2 0 0 6
Waardenburg syndrome type 2E 3 2 1 0 0 6
Weaver syndrome 1 1 4 0 0 6
Weill-Marchesani 4 syndrome, recessive 1 0 2 3 0 6
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 3 1 1 0 0 5
8q24.3 microdeletion syndrome 3 1 1 0 0 5
Adenylosuccinate lyase deficiency 1 1 3 0 0 5
Agammaglobulinemia 8b, autosomal recessive 0 1 0 4 0 5
Alzheimer disease 3 1 2 2 0 0 5
Amyotrophic lateral sclerosis type 2, juvenile 1 2 2 0 0 5
Anophthalmia/microphthalmia-esophageal atresia syndrome 3 2 0 0 0 5
Ataxia-pancytopenia syndrome 0 2 3 0 0 5
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 3 1 1 0 0 5
Autoimmune lymphoproliferative syndrome type 4 5 0 0 0 0 5
Autosomal dominant centronuclear myopathy 2 3 0 0 0 5
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 1 2 2 0 0 5
Autosomal recessive distal spinal muscular atrophy 1 1 0 4 0 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2C 3 0 2 0 0 5
Autosomal recessive limb-girdle muscular dystrophy type 2E 3 1 1 0 0 5
Autosomal recessive nonsyndromic hearing loss 18B 2 2 1 0 0 5
Autosomal recessive nonsyndromic hearing loss 28 3 1 1 0 0 5
Autosomal recessive nonsyndromic hearing loss 63 2 1 2 0 0 5
Autosomal recessive osteopetrosis 4 1 2 2 0 0 5
Autosomal recessive spastic paraplegia type 76 2 1 2 0 0 5
Bardet-Biedl syndrome 7 3 1 1 0 0 5
Basal ganglia calcification, idiopathic, 7, autosomal recessive 0 0 4 1 0 5
Becker muscular dystrophy 2 2 1 0 0 5
Bethlem myopathy 2 0 3 2 0 0 5
Bilateral frontoparietal polymicrogyria 3 0 2 0 0 5
Brain small vessel disease 2A, autosomal dominant 1 2 2 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 2 4 0 1 0 0 5
Bruck syndrome 2 1 1 2 1 0 5
CEBALID syndrome 1 4 0 0 0 5
CEP290-related disorder 4 0 1 0 0 5
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 5 0 0 0 0 5
Cardiac, facial, and digital anomalies with developmental delay 2 0 3 0 0 5
Cardiac-urogenital syndrome 1 3 1 0 0 5
Carnitine palmitoyl transferase II deficiency, severe infantile form 2 2 1 0 0 5
Cerebral cavernous malformation 3 2 0 0 0 5
Childhood onset GLUT1 deficiency syndrome 2 4 0 1 0 0 5
Classic homocystinuria 3 1 1 0 0 5
Coffin-Siris syndrome 8 0 1 4 0 0 5
Complement component 3 deficiency 1 2 2 0 0 5
Cone dystrophy 3 2 3 0 0 0 5
Congenital diarrhea 5 with tufting enteropathy 2 1 1 1 0 5
Congenital disorder of deglycosylation 2 1 2 2 0 0 5
Congenital factor VII deficiency 2 1 2 0 0 5
Congenital heart defects, multiple types, 2 1 4 0 0 0 5
Congenital lipoid adrenal hyperplasia due to STAR deficency 5 0 0 0 0 5
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 2 3 0 0 5
Congenital secretory diarrhea, chloride type 2 2 1 0 0 5
Congenital stationary night blindness 1B 1 0 4 0 0 5
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 0 5 0 0 5
Cortical dysplasia-focal epilepsy syndrome 4 0 1 0 0 5
Corticosterone methyloxidase type 2 deficiency 3 1 1 0 0 5
Cutaneous porphyria 0 2 3 0 0 5
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 1 1 1 2 0 5
Deficiency of acetyl-CoA acetyltransferase 2 1 2 0 0 5
Deficiency of alpha-mannosidase 1 2 1 1 0 5
Developmental and epileptic encephalopathy 92 0 3 2 0 0 5
Developmental and epileptic encephalopathy, 23 1 0 0 4 0 5
Developmental and epileptic encephalopathy, 26 1 3 1 0 0 5
Developmental and epileptic encephalopathy, 46 0 1 1 3 0 5
Developmental and epileptic encephalopathy, 5; Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia; Developmental delay with or without epilepsy 0 0 0 5 0 5
Diabetes insipidus, nephrogenic, autosomal 3 0 2 0 0 5
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 2 0 3 0 0 5
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 3 1 1 0 0 5
Epilepsy, progressive myoclonic, 11 1 4 0 0 0 5
Exudative vitreoretinopathy 1 0 3 2 0 0 5
Familial hemophagocytic lymphohistiocytosis 5 2 1 2 0 0 5
Fanconi-Bickel syndrome 3 1 0 1 0 5
GM1 gangliosidosis type 2 3 2 0 0 0 5
Glycogen storage disease, type V 3 2 0 0 0 5
Granulomatous disease, chronic, X-linked 2 0 3 0 0 5
Hao-Fountain syndrome due to USP7 mutation 0 0 5 0 0 5
Hereditary spastic paraplegia 46 2 0 3 0 0 5
Hereditary spastic paraplegia 56 1 2 2 0 0 5
Hereditary spastic paraplegia 64 2 2 1 0 0 5
Hiatt-Neu-Cooper neurodevelopmental syndrome 1 2 2 0 0 5
Holt-Oram syndrome 3 2 0 0 0 5
Hydrocephalus, nonsyndromic, autosomal recessive 2 2 1 0 2 0 5
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 4 1 0 0 0 5
Hypercalcemia, infantile, 2 0 1 4 0 0 5
Hyperphosphatasia with intellectual disability syndrome 4 3 1 1 0 0 5
Hypertrichotic osteochondrodysplasia Cantu type 1 0 4 0 0 5
Hypertrophic cardiomyopathy 10 1 0 4 0 0 5
Hypertrophic cardiomyopathy 2 2 1 2 0 0 5
Hypertrophic cardiomyopathy 8 1 2 2 0 0 5
Hypogonadotropic hypogonadism 1 with or without anosmia 0 4 1 0 0 5
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 1 4 0 0 5
Immunodeficiency 47 0 2 2 1 0 5
Intellectual developmental disorder, X-linked 111 0 0 5 0 0 5
Intellectual developmental disorder, autosomal dominant 66 0 1 4 0 0 5
Intellectual developmental disorder, autosomal dominant 68 0 3 2 0 0 5
Intellectual disability, X-linked 61 0 0 4 1 0 5
Intellectual disability, autosomal dominant 24 1 1 3 0 0 5
Intellectual disability, autosomal dominant 45 0 4 1 0 0 5
Intellectual disability, autosomal recessive 5 1 1 3 0 0 5
Intellectual disability, autosomal recessive 65 0 4 1 0 0 5
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 4 0 5
Joubert syndrome 21 2 1 0 2 0 5
Joubert syndrome 6 1 3 1 0 0 5
Knobloch syndrome 1 1 0 1 3 0 5
Leukocyte adhesion deficiency 1 3 1 1 0 0 5
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 1 3 0 0 5
Long QT syndrome 2 2 0 3 0 0 5
Long QT syndrome 3 3 0 2 0 0 5
MPZ-related disorder 1 2 2 0 0 5
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 1 4 0 5
Marinesco-Sjögren syndrome 3 1 1 0 0 5
Maturity-onset diabetes of the young type 3 1 0 4 0 0 5
Metaphyseal chondrodysplasia, McKusick type 1 2 2 0 0 5
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 2 3 0 0 5
Microcephaly 1, primary, autosomal recessive 2 0 2 1 0 5
Microcephaly 7, primary, autosomal recessive 0 1 1 3 0 5
Microcephaly and chorioretinopathy 1 0 2 3 0 0 5
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 1 0 4 0 0 5
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2 2 1 0 0 5
Mucopolysaccharidosis type 6 2 2 0 1 0 5
Mucopolysaccharidosis type 7 0 0 3 2 0 5
Multiple congenital anomalies-hypotonia-seizures syndrome 1 2 2 0 1 0 5
Muscular dystrophy-dystroglycanopathy type B5 1 4 0 0 0 5
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 1 2 2 0 0 5
Nephrotic syndrome, type 11 1 2 2 0 0 5
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 1 3 1 0 5
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 3 2 0 0 0 5
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 2 2 1 0 5
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 2 0 3 0 5
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2 2 1 0 0 5
Neurodevelopmental disorder with or without autism or seizures 0 1 4 0 0 5
Neuronal ceroid lipofuscinosis 8 0 2 3 0 0 5
Neuronopathy, distal hereditary motor, autosomal recessive 10 1 2 2 0 0 5
Noonan syndrome 2 2 1 1 1 0 5
Nystagmus 1, congenital, X-linked 1 2 2 0 0 5
O'Donnell-Luria-Rodan syndrome 1 3 1 0 0 5
Ocular albinism, type I 1 2 2 0 0 5
Oculocerebrofacial syndrome, Kaufman type 4 1 0 0 0 5
Orofaciodigital syndrome I 2 2 1 0 0 5
Osteogenesis imperfecta type 7 2 1 1 1 0 5
Osteogenesis imperfecta, perinatal lethal 3 2 0 0 0 5
Periventricular nodular heterotopia 9 1 4 0 0 0 5
Pfeiffer syndrome 5 0 0 0 0 5
Pheochromocytoma/paraganglioma syndrome 4 4 0 1 0 0 5
Pierpont syndrome 1 2 2 0 0 5
Pierson syndrome 0 3 2 0 0 5
Polycystic kidney disease 3 with or without polycystic liver disease 1 2 2 0 0 5
Pseudopseudohypoparathyroidism 1 2 2 0 0 5
Renal hypomagnesemia 5 with ocular involvement 3 2 0 0 0 5
Renal tubular acidosis, distal, 4, with hemolytic anemia 1 1 3 0 0 5
Retinitis pigmentosa 77 2 1 2 0 0 5
Rienhoff syndrome 1 2 2 0 0 5
Ritscher-Schinzel syndrome 1 1 0 2 2 0 5
Roifman syndrome 2 3 0 0 0 5
SCN2A-related disorder 1 2 2 0 0 5
SHORT syndrome 1 2 2 0 0 5
SPG11-related disorder 2 1 2 0 0 5
Sifrim-Hitz-Weiss syndrome 0 1 4 0 0 5
Skin creases, congenital symmetric circumferential, 2 0 2 3 0 0 5
Smith-Magenis syndrome 0 3 0 2 0 5
Spinocerebellar ataxia type 5 2 1 2 0 0 5
Syndromic X-linked intellectual disability Snyder type 0 2 3 0 0 5
Trichohepatoenteric syndrome 2 1 0 0 4 0 5
USH2A-related disorder 1 2 2 0 0 5
Usher syndrome type 1C 1 3 1 0 0 5
VPS13A-related neurodegenerative disease 3 0 1 1 0 5
Van Maldergem syndrome 1 0 0 0 5 0 5
Vici syndrome 3 1 0 1 0 5
Vitamin D-dependent rickets type II with alopecia 2 1 2 0 0 5
Waardenburg syndrome type 2A 1 4 0 0 0 5
Werner syndrome 2 1 0 2 0 5
Wiskott-Aldrich syndrome 0 4 1 0 0 5
X-linked cone-rod dystrophy 3 2 1 2 0 0 5
X-linked intellectual disability-cerebellar hypoplasia syndrome 2 2 1 0 0 5
Yoon-Bellen neurodevelopmental syndrome 0 2 3 0 0 5
alpha Thalassemia 3 2 0 0 0 5
von Willebrand disease type 2 1 1 3 0 0 5
von Willebrand disease type 3 3 0 2 0 0 5
3-methylcrotonyl-CoA carboxylase 1 deficiency 4 0 0 0 0 4
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2 0 1 1 0 4
ALG12-congenital disorder of glycosylation 1 1 2 0 0 4
ALG3-congenital disorder of glycosylation 0 1 2 1 0 4
Agenesis of the corpus callosum with peripheral neuropathy 3 0 0 1 0 4
Aicardi-Goutieres syndrome 4 0 2 2 0 0 4
Aicardi-Goutieres syndrome 6 3 0 1 0 0 4
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 3 0 0 4
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 0 4 0 4
Anterior segment dysgenesis 3 0 2 2 0 0 4
Arrhythmogenic right ventricular dysplasia 10 2 2 0 0 0 4
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 2 2 0 0 4
Atrophia bulborum hereditaria 0 1 3 0 0 4
Autoinflammation with arthritis and dyskeratosis 0 0 4 0 0 4
Autosomal dominant Alport syndrome 0 2 2 0 0 4
Autosomal dominant nonsyndromic hearing loss 12 2 0 2 0 0 4
Autosomal recessive ataxia, Beauce type 2 0 2 0 0 4
Autosomal recessive complex spastic paraplegia type 9B 1 2 1 0 0 4
Autosomal recessive congenital ichthyosis 2 2 1 1 0 0 4
Autosomal recessive hypophosphatemic bone disease 1 1 2 0 0 4
Autosomal recessive nonsyndromic hearing loss 2 2 1 1 0 0 4
Autosomal recessive nonsyndromic hearing loss 37 1 0 3 0 0 4
Autosomal recessive spinocerebellar ataxia 17 3 1 0 0 0 4
Autosomal recessive spinocerebellar ataxia 20 1 2 1 0 0 4
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 2 1 0 0 4
Bardet-Biedl syndrome 1 3 0 1 0 0 4
Bartter disease type 2 1 1 2 0 0 4
Beckwith-Wiedemann syndrome 1 1 2 0 0 4
Benign recurrent intrahepatic cholestasis type 2 1 1 2 0 0 4
Bethlem myopathy 1B 2 0 2 0 0 4
Biotin-responsive basal ganglia disease 2 1 1 0 0 4
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 2 1 0 0 4
Branchiooculofacial syndrome 2 1 1 0 0 4
Breast-ovarian cancer, familial, susceptibility to, 5 4 0 0 0 0 4
Bruck syndrome 1 2 1 1 0 0 4
Brugada syndrome 1 1 1 1 0 1 4
Bryant-Li-Bhoj neurodevelopmental syndrome 1 1 2 1 0 0 4
CACNA1A-related disorder 2 0 2 0 0 4
CACNA1F-related disorder 0 1 3 0 0 4
CBL-related disorder 2 1 1 0 0 4
CLCN5-related disorder 1 1 2 0 0 4
COL4A1-related disorder 1 1 2 0 0 4
CRB1-related disorder 1 1 2 0 0 4
CREBBP-related disorder 1 0 3 0 0 4
Camptomelic dysplasia 1 2 1 0 0 4
Capillary malformation-arteriovenous malformation 1 1 3 0 0 0 4
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 2 1 0 0 4
Cardiofaciocutaneous syndrome 4 1 2 0 1 0 4
Carnitine palmitoyl transferase 1A deficiency 2 0 2 0 0 4
Cataract 1 multiple types 2 1 1 0 0 4
Cataract 5 multiple types 2 0 2 0 0 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 2 1 1 0 0 4
Charcot-Marie-Tooth disease axonal type 2K 0 0 4 0 0 4
Charcot-Marie-Tooth disease axonal type 2S 3 1 0 0 0 4
Charcot-Marie-Tooth disease type 4A 2 0 2 0 0 4
Charcot-Marie-Tooth disease type 4D 2 1 1 0 0 4
Cholestasis, progressive familial intrahepatic, 8 0 3 1 0 0 4
Clark-Baraitser syndrome 1 3 0 0 0 4
Cold-induced sweating syndrome 1 4 0 0 0 0 4
Colorectal cancer, hereditary nonpolyposis, type 2 2 1 1 0 0 4
Combined oxidative phosphorylation defect type 20 1 1 2 0 0 4
Complex cortical dysplasia with other brain malformations 4 2 1 1 0 0 4
Complex cortical dysplasia with other brain malformations 5 2 1 1 0 0 4
Complex cortical dysplasia with other brain malformations 6 1 0 3 0 0 4
Complex cortical dysplasia with other brain malformations 7 2 0 2 0 0 4
Cone-rod dystrophy 20 2 0 2 0 0 4
Cone-rod dystrophy and hearing loss 1 2 0 2 0 0 4
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 4 0 0 0 4
Congenital disorder of glycosylation with defective fucosylation 2 1 1 2 0 0 4
Congenital dyserythropoietic anemia, type II 1 1 2 0 0 4
Congenital heart defects and skeletal malformations syndrome 1 0 3 0 0 4
Congenital hereditary endothelial dystrophy of cornea 1 1 2 0 0 4
Congenital myasthenic syndrome 10 1 3 0 0 0 4
Congenital myasthenic syndrome 12 2 1 1 0 0 4
Congenital myasthenic syndrome 4B 4 0 0 0 0 4
Congenital myasthenic syndrome 5 4 0 0 0 0 4
Congenital stationary night blindness 1D 2 2 0 0 0 4
Cranioectodermal dysplasia 1 1 1 2 0 0 4
Crigler-Najjar syndrome, type II 2 1 1 0 0 4
Crouzon syndrome 4 0 0 0 0 4
DYNC1H1-related disorder 1 3 0 0 0 4
Deficiency of aromatic-L-amino-acid decarboxylase 2 1 1 0 0 4
Deficiency of butyryl-CoA dehydrogenase 1 2 1 0 0 4
Dejerine-Sottas disease 2 2 0 0 0 4
Dentinogenesis imperfecta type 2 0 3 1 0 0 4
Dermatitis, atopic, 2 2 2 0 0 0 4
Developmental and epileptic encephalopathy 103 0 1 3 0 0 4
Developmental and epileptic encephalopathy 91 2 0 2 0 0 4
Developmental and epileptic encephalopathy 98 0 0 4 0 0 4
Developmental and epileptic encephalopathy, 1 1 1 2 0 0 4
Developmental and epileptic encephalopathy, 17 1 2 1 0 0 4
Developmental and epileptic encephalopathy, 28 0 2 2 0 0 4
Developmental and epileptic encephalopathy, 38 3 0 1 0 0 4
Developmental and epileptic encephalopathy, 58 1 2 1 0 0 4
Developmental and epileptic encephalopathy, 69 1 1 2 0 0 4
Developmental and epileptic encephalopathy, 84 1 1 2 0 0 4
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 1 3 0 0 4
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2 0 2 0 0 4
DiGeorge syndrome 0 3 1 0 0 4
Diamond-Blackfan anemia 1 1 2 1 0 0 4
Distal arthrogryposis type 2B1 2 2 0 0 0 4
Dyskinesia with orofacial involvement, autosomal dominant 2 0 2 0 0 4
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 3 0 1 0 0 4
Ehlers-Danlos syndrome, musculocontractural type 1 1 2 1 0 0 4
Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 1 3 0 0 4
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2 2 0 0 0 4
Epilepsy, familial focal, with variable foci 4 1 1 2 0 0 4
Epilepsy, idiopathic generalized, susceptibility to, 15 0 1 3 0 0 4
Episodic kinesigenic dyskinesia 1 3 0 1 0 0 4
FGFR3-related disorder 1 0 3 0 0 4
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 2 2 0 0 4
Familial adenomatous polyposis 1 2 2 0 0 0 4
Familial dysfibrinogenemia 1 1 2 0 0 4
Familial infantile myasthenia 2 2 0 0 0 4
Familial renal glucosuria 0 0 4 0 0 4
Fanconi anemia complementation group D2 2 1 1 0 0 4
Feingold syndrome type 1 1 2 1 0 0 4
Fibrochondrogenesis 1 1 1 2 0 0 4
Focal segmental glomerulosclerosis 1 0 1 3 0 0 4
Focal segmental glomerulosclerosis 9 1 0 3 0 0 4
Fucosidosis 2 0 2 0 0 4
GLB1-related disorder 1 3 0 0 0 4
Glanzmann thrombasthenia 2 3 0 1 0 0 4
Glucocorticoid deficiency 1 0 3 1 0 0 4
Glucocorticoid deficiency with achalasia 3 0 1 0 0 4
Glycine encephalopathy 1 2 0 1 1 0 4
Glycogen storage disease IXc 2 1 1 0 0 4
Glycogen storage disease, type IV 1 1 2 0 0 4
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2 0 1 1 0 4
Hartsfield-Bixler-Demyer syndrome 0 2 2 0 0 4
Hb SS disease 3 1 0 0 0 4
Hereditary angioedema type 1 2 0 2 0 0 4
Hereditary factor XI deficiency disease 3 1 0 0 0 4
Hereditary sensory and autonomic neuropathy type 6 3 1 0 0 0 4
Hereditary spastic paraplegia 39 0 3 1 0 0 4
Heterotopia, periventricular, X-linked dominant 1 3 0 0 0 4
Houge-Janssens syndrome 4 0 3 1 0 0 4
Hypercholesterolemia, autosomal dominant, 3 1 2 1 0 0 4
Hyperinsulinism-hyperammonemia syndrome 1 0 3 0 0 4
Hypertrophic cardiomyopathy 11 1 1 2 0 0 4
Hypertrophic cardiomyopathy 13 1 1 2 0 0 4
Hypothyroidism due to TSH receptor mutations 1 1 2 0 0 4
Hypotrichosis 7 1 3 0 0 0 4
Imagawa-Matsumoto syndrome 1 2 0 1 0 4
Imerslund-Grasbeck syndrome type 1 2 1 1 0 0 4
Imerslund-Grasbeck syndrome type 2 1 1 2 0 0 4
Immunoglobulin-mediated membranoproliferative glomerulonephritis 2 0 2 0 0 4
Infantile cerebellar-retinal degeneration 0 0 4 0 0 4
Infantile liver failure syndrome 1 0 1 2 1 0 4
Infantile liver failure syndrome 2 0 1 3 0 0 4
Infantile nephronophthisis 2 0 1 1 0 4
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 3 1 0 0 0 4
Intellectual developmental disorder with dysmorphic facies and ptosis 2 2 0 0 0 4
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 1 2 1 0 0 4
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 2 2 0 0 4
Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 1 3 0 0 4
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2 1 1 0 0 4
Intellectual disability, autosomal dominant 14 0 3 1 0 0 4
Intellectual disability, autosomal dominant 15 2 2 0 0 0 4
Intellectual disability, autosomal dominant 41 0 2 2 0 0 4
Intellectual disability, autosomal dominant 47 1 2 0 1 0 4
Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 0 0 0 4 0 4
Joint laxity, short stature, and myopia 2 1 1 0 0 4
Junctional epidermolysis bullosa, non-Herlitz type 4 0 0 0 0 4
Juvenile polyposis syndrome 1 1 2 0 0 4
KCND2-related neurodevelopmental disorder 1 1 2 0 0 4
Kindler syndrome 3 0 0 1 0 4
Lamb-Shaffer syndrome 0 3 1 0 0 4
Laron-type isolated somatotropin defect 1 1 2 0 0 4
Larsen syndrome 1 1 2 0 0 4
Leber optic atrophy and dystonia 2 2 0 0 0 4
Leigh syndrome 4 0 0 0 0 4
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2 1 1 0 0 4
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 3 0 0 4
Li-Fraumeni syndrome 1 2 1 1 0 0 4
Lipoprotein glomerulopathy 1 1 2 0 0 4
Lissencephaly 9 with complex brainstem malformation 0 2 2 0 0 4
Loeys-Dietz syndrome 4 2 2 0 0 0 4
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 2 1 0 0 4
Lysinuric protein intolerance 2 0 2 0 0 4
MASA syndrome 0 2 2 0 0 4
MT-ATP6-related disorder 2 1 1 0 0 4
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 1 3 0 0 0 4
Marshall syndrome 0 2 2 0 0 4
Meckel syndrome, type 4 4 0 0 0 0 4
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 1 2 0 0 4
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 2 1 1 0 0 4
Meier-Gorlin syndrome 1 1 2 0 1 0 4
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 4 0 0 0 0 4
Microcephalic primordial dwarfism due to RTTN deficiency 1 0 2 1 0 4
Microcephaly 6, primary, autosomal recessive 0 2 2 0 0 4
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2 0 2 0 0 4
Mitochondrial complex I deficiency, nuclear type 5 0 0 4 0 0 4
Mucopolysaccharidosis, MPS-III-D 0 0 0 4 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 3 3 0 1 0 0 4
Multiple epiphyseal dysplasia type 4 1 1 2 0 0 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 1 2 1 0 0 4
Nephronophthisis 12 3 1 0 0 0 4
Nephronophthisis 4 1 2 1 0 0 4
Nephrotic syndrome, type 18 0 2 2 0 0 4
Neurodevelopmental disorder with hypotonia, seizures, and absent language 1 3 0 0 0 4
Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 0 4 0 0 4
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 1 2 1 0 0 4
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 3 0 0 4
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 1 3 0 0 4
Neurodevelopmental disorder with severe motor impairment and absent language 2 1 0 1 0 4
Neurofibromatosis, type 2 1 3 0 0 0 4
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 3 0 0 0 4
Neuroocular syndrome 0 4 0 0 0 4
Niemann-Pick disease, type B 2 2 0 0 0 4
Noonan syndrome 6 2 2 0 0 0 4
Oculodentodigital dysplasia 0 3 1 0 0 4
Oculofaciocardiodental syndrome 0 3 1 0 0 4
Osteopathia striata with cranial sclerosis 2 2 0 0 0 4
Osteopetrosis with renal tubular acidosis 2 1 1 0 0 4
POLG-related disorder 1 1 2 0 0 4
Palmoplantar keratoderma, Nagashima type 4 0 0 0 0 4
Parenti-mignot neurodevelopmental syndrome 0 1 3 0 0 4
Pendred syndrome 2 1 1 0 0 4
Peutz-Jeghers syndrome 2 0 2 0 0 4
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 0 0 0 4 0 4
Platyspondylic dysplasia, Torrance type 0 4 0 0 0 4
Polyglandular autoimmune syndrome, type 1 3 0 1 0 0 4
Pontocerebellar hypoplasia type 6 2 1 1 0 0 4
Primary ciliary dyskinesia 14 3 1 0 0 0 4
Primary ciliary dyskinesia 15 1 2 1 0 0 4
Primary ciliary dyskinesia 29 3 0 1 0 0 4
Primary hyperoxaluria type 3 2 1 1 0 0 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 1 3 0 0 0 4
Progressive myoclonic epilepsy type 3 1 0 3 0 0 4
Progressive pseudorheumatoid dysplasia 4 0 0 0 0 4
Radio-Tartaglia syndrome 1 3 0 0 0 4
Rahman syndrome 2 2 0 0 0 4
Retinal dystrophy with or without macular staphyloma 2 1 1 0 0 4
Retinitis pigmentosa 37 2 2 0 0 0 4
Retinitis pigmentosa 49 2 0 2 0 0 4
Retinitis pigmentosa 73 1 2 1 0 0 4
Retinitis pigmentosa 74 2 0 2 0 0 4
Retinitis pigmentosa 80 2 2 0 0 0 4
Retinitis pigmentosa 88 0 4 0 0 0 4
Retinitis pigmentosa 93 3 0 1 0 0 4
SCN8A-related disorder 0 3 1 0 0 4
Schwartz-Jampel syndrome type 1 0 1 3 0 0 4
Senior-Loken syndrome 5 3 1 0 0 0 4
Severe combined immunodeficiency due to CARMIL2 deficiency 0 2 2 0 0 4
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 3 1 0 0 4
Spondyloenchondrodysplasia with immune dysregulation 1 2 1 0 0 4
Stickler syndrome type 2 1 1 2 0 0 4
Stüve-Wiedemann syndrome 1 3 0 0 1 0 4
Sulfite oxidase deficiency 3 0 1 0 0 4
Surfactant metabolism dysfunction, pulmonary, 2 1 1 2 0 0 4
Syndromic microphthalmia type 5 2 1 1 0 0 4
TRPV4-related disorder 1 1 2 0 0 4
Testosterone 17-beta-dehydrogenase deficiency 2 0 2 0 0 4
Thyroglobulin synthesis defect 3 1 0 0 0 4
Timothy syndrome 3 1 0 0 0 4
Ullrich congenital muscular dystrophy 2 3 1 0 0 0 4
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 0 4 0 4
Ventriculomegaly and arthrogryposis 1 0 0 3 0 4
Weill-Marchesani syndrome 1 1 0 0 3 0 4
Weiss-Kruszka syndrome 0 3 1 0 0 4
X-linked Opitz G/BBB syndrome 0 2 1 1 0 4
Xeroderma pigmentosum group A 4 0 0 0 0 4
Xeroderma pigmentosum, group C 4 0 0 0 0 4
beta Thalassemia 3 1 0 0 0 4
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 1 1 0 0 3
3-methylglutaconic aciduria, type VIIB 0 1 1 1 0 3
3MC syndrome 1 0 1 1 1 0 3
AMED syndrome, digenic 3 0 0 0 0 3
ANK2-related disorder 0 1 2 0 0 3
ANO5-related disorder 0 1 2 0 0 3
Abortive cerebellar ataxia 2 1 0 0 0 3
Achondroplasia 3 0 0 0 0 3
Acute intermittent porphyria 2 1 0 0 0 3
Acyl-CoA oxidase deficiency 1 0 2 0 0 3
Aicardi-Goutieres syndrome 1 0 3 0 0 0 3
Aicardi-Goutieres syndrome 5 1 0 2 0 0 3
Aicardi-Goutieres syndrome 9 0 2 1 0 0 3
Alkaptonuria 0 2 1 0 0 3
Alopecia universalis congenita 1 0 2 0 0 3
Amelocerebrohypohidrotic syndrome 2 0 1 0 0 3
Amyotrophic lateral sclerosis type 10 2 0 1 0 0 3
Amyotrophic lateral sclerosis type 5 0 1 2 0 0 3
Amyotrophic lateral sclerosis type 6 2 1 0 0 0 3
Andersen Tawil syndrome 1 1 1 0 0 3
Anterior segment dysgenesis 8 1 2 0 0 0 3
Aortic valve disease 1 1 2 0 0 0 3
Autism, susceptibility to, 17 1 1 1 0 0 3
Autism, susceptibility to, X-linked 4 0 1 1 1 0 3
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2 1 0 0 0 3
Autoinflammatory syndrome with immunodeficiency 1 0 2 0 0 3
Autoinflammatory syndrome, familial, Behcet-like 1 2 1 0 0 0 3
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 2 1 0 0 3
Autosomal dominant hypocalcemia 1 1 0 2 0 0 3
Autosomal dominant nonsyndromic hearing loss 15 1 1 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 6 1 0 2 0 0 3
Autosomal recessive Parkinson disease 14 1 1 1 0 0 3
Autosomal recessive congenital ichthyosis 10 0 1 1 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2I 3 0 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2T 1 2 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2U 0 0 3 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type R18 1 0 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 16 2 0 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 22 1 1 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 36 2 1 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 42 2 1 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 84B 3 0 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 1 1 1 0 0 3
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 3 0 0 0 0 3
Autosomal recessive spinocerebellar ataxia 10 2 1 0 0 0 3
Autosomal recessive spinocerebellar ataxia 16 0 1 2 0 0 3
BEST1-related disorder 0 2 1 0 0 3
BRAT1-related disorder 1 1 1 0 0 3
Baraitser-winter syndrome 2 1 1 1 0 0 3
Bardet-Biedl syndrome 12 1 0 2 0 0 3
Bardet-Biedl syndrome 6 2 0 1 0 0