ClinVar Miner

Variants from Institute of Human Genetics, University of Leipzig Medical Center

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

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

pathogenic likely pathogenic uncertain significance likely benign benign established risk allele total
1813 1696 2020 177 64 3 5736

Gene and significance breakdown #

Total genes and gene combinations: 1699
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele total
CFTR 142 90 69 0 2 0 302
GRIN2A 2 89 9 1 0 0 101
BRCA2 52 15 25 6 1 0 98
GRIN2B 21 51 11 0 0 0 81
LDLR 26 22 12 0 1 0 61
FOXG1 45 15 0 0 0 0 60
BRCA1 34 8 9 1 3 0 55
NF1 27 12 4 0 0 0 43
SCN8A 4 17 22 0 0 0 43
DLG4 34 3 1 0 0 0 38
LOC102724058, SCN1A 14 9 13 1 2 0 38
FBXO11 11 23 2 0 0 0 36
SCN1A 18 13 5 0 0 0 36
QRICH1 20 13 2 0 0 0 35
CTCF 17 13 4 0 0 0 34
ROBO1 5 15 14 0 0 0 34
CFTR, LOC111674472 15 9 7 1 0 0 32
CHEK2 7 10 16 0 0 0 32
GRID1 1 0 31 0 0 0 32
SPTAN1 3 14 10 3 1 0 31
SCN2A 7 6 16 0 0 0 29
CACNA1A 3 8 16 0 1 0 28
MSH2 8 3 9 4 3 0 27
ABCA4 13 9 5 0 0 2 26
RYR1 7 5 12 1 1 0 26
SNAP25 2 18 6 0 0 0 26
ABCD1 13 10 2 0 0 0 25
MSH6 9 7 7 1 1 0 25
PMS2 5 2 14 1 3 0 25
ATM 7 3 11 1 2 0 24
CUX1 7 11 7 0 0 0 24
KCNQ2 9 15 0 0 0 0 24
MECP2 19 2 2 1 1 0 24
PALB2 14 3 5 1 1 0 24
STXBP1 13 5 6 0 0 0 24
MYBPC3 12 3 8 0 0 0 23
USH2A 13 6 4 0 0 0 23
DYNC1H1 2 3 16 1 0 0 22
TSC2 8 5 7 2 0 0 22
BRIP1 3 3 13 2 0 0 21
FBN1 6 7 6 1 0 0 20
SCN5A 2 5 10 0 2 0 19
APOB 1 2 14 1 0 0 18
CHD2 3 5 6 4 0 0 18
NOTCH3 5 8 5 0 0 0 18
ROBO2 0 0 14 3 1 0 18
ROBO3 0 17 1 0 0 0 18
TTN 4 7 7 0 0 0 18
ATM, C11orf65 6 1 11 0 0 0 17
CDKL5 9 6 2 0 0 0 17
SCN3A 0 12 5 0 0 0 17
TECPR2 2 7 7 0 1 0 17
TRIO 4 7 6 0 0 0 17
ARID1B 5 8 3 0 0 0 16
DMD 5 4 6 0 1 0 16
PKD1 5 4 6 1 0 0 16
SYNGAP1 7 5 4 0 0 0 16
ANKRD11 11 4 1 0 0 0 15
SLC6A1 2 7 6 0 0 0 15
TP53 7 2 5 0 1 0 15
COL4A1 2 6 6 0 0 0 14
HBA-LCR, NPRL3 4 7 4 0 0 0 14
MED13L 2 2 9 1 0 0 14
SLC2A1 4 8 2 0 0 0 14
WDFY3 0 12 3 0 0 0 14
BRCA1, LOC126862571 10 0 2 1 0 0 13
KCNQ1 4 5 3 1 0 0 13
KMT2D 2 2 5 3 1 0 13
MLH1 3 3 5 2 0 0 13
PTEN 8 4 1 0 0 0 13
TUBA1A 3 6 4 0 0 0 13
VPS13B 4 2 5 2 0 0 13
APC 7 2 3 0 0 0 12
ATP2B1 1 9 2 0 0 0 12
ATRX 3 2 4 2 1 0 12
CDH1 2 0 8 2 0 0 12
DDX3X 3 5 4 0 0 0 12
DEPDC5 5 5 2 1 0 0 12
MYH7 2 2 7 0 1 0 12
RAD51C 5 1 5 1 0 0 12
BARD1 3 0 5 1 2 0 11
DOCK4 0 3 8 0 0 0 11
DSP 4 0 5 2 0 0 11
KCNB1 4 3 5 0 0 0 11
KCNT1 3 4 5 0 0 0 11
MAPK8IP3 0 10 1 0 0 0 11
PPFIBP1 10 0 1 0 0 0 11
SMARCA2 2 2 4 3 0 0 11
TSC1 5 5 1 0 0 0 11
ZMYND11 6 5 0 0 0 0 11
ATP1A2 2 5 3 0 0 0 10
CACNA1S 1 2 6 1 0 0 10
CFTR, LOC111674475 8 1 1 0 0 0 10
CHD3 1 3 6 0 0 0 10
CSNK2B 3 2 5 0 0 0 10
DLG4, LOC126862479 9 0 1 0 0 0 10
FBXO11, MSH6 8 1 1 0 0 0 10
GABRG2 3 2 5 0 0 0 10
HUWE1 0 2 7 1 0 0 10
KCNA3 0 9 1 0 0 0 10
KMT2C 1 2 7 0 0 0 10
LMNA 3 2 6 0 0 0 10
PCDH19 2 5 3 0 0 0 10
ADNP 3 5 1 0 0 0 9
ALPL 3 3 3 0 0 0 9
ASXL3 1 4 5 0 0 0 9
AUTS2 4 1 2 2 0 0 9
COL1A1 3 5 1 0 0 0 9
CSF1R 0 5 4 0 0 0 9
DYRK1A 4 2 3 0 0 0 9
EHMT1 4 2 3 0 0 0 9
FOXP1 3 3 2 1 0 0 9
GCK 3 4 2 0 0 0 9
MYO7A 2 3 3 1 0 0 9
NEXMIF 4 4 0 1 0 0 9
PTCH1 2 4 3 0 0 0 9
RAD51D, RAD51L3-RFFL 3 1 4 0 1 0 9
RYR2 1 4 3 1 0 0 9
SZT2 1 1 7 0 0 0 9
TRRAP 1 0 8 0 0 0 9
WDR45 5 2 1 1 0 0 9
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 8 0 0 0 0 0 8
ARX 1 3 5 0 0 0 8
COL4A5 3 1 4 0 0 0 8
FGFR3 4 1 3 0 0 0 8
GRIA4 1 5 2 0 0 0 8
GRIN2D 2 5 1 0 0 0 8
NIPBL 1 0 7 0 0 0 8
NSD1 3 0 4 1 0 0 8
PAH 6 1 1 0 0 0 8
POLG, POLGARF 2 3 5 0 0 0 8
PTPN11 7 1 0 0 0 0 8
WDR62 3 2 4 0 0 0 8
ZEB2 3 3 1 1 0 0 8
ABCC8 1 2 3 1 0 0 7
ACAN 0 1 6 0 0 0 7
ALMS1 5 1 0 1 0 0 7
ARSA 6 1 0 0 0 0 7
CHD7 3 2 2 0 0 0 7
CLCN1 3 3 1 0 0 0 7
COL4A4 0 3 4 0 0 0 7
CREBBP 1 3 2 1 0 0 7
EP300 0 0 6 1 0 0 7
FLNA 1 2 3 1 0 0 7
GABRB3 1 1 5 0 0 0 7
GRIA3 1 1 5 0 0 0 7
GRIN1 1 3 3 0 0 0 7
IQSEC2 1 3 3 0 0 0 7
LGI1 1 4 2 0 0 0 7
MEF2C 1 2 4 0 0 0 7
MVP-DT, PRRT2 2 2 3 0 0 0 7
OPA1 4 2 1 0 0 0 7
PAFAH1B1 4 2 2 0 0 0 7
PKHD1 5 0 2 0 0 0 7
PRPH2 3 3 1 0 0 0 7
RET 3 0 2 2 0 0 7
SHANK3 4 2 1 0 0 0 7
SLC6A8 3 1 3 0 0 0 7
SOX5 1 2 4 0 0 0 7
STX1A 1 5 1 0 0 0 7
ABCC6 5 0 1 0 0 0 6
AFG2A 0 3 3 0 0 0 6
ANKRD17 2 2 2 0 0 0 6
ARFGEF1 1 5 0 0 0 0 6
ARID1A 0 3 3 0 0 0 6
ATP1A3 4 0 2 0 0 0 6
ATP7B 4 1 0 1 0 0 6
BAP1 1 1 4 0 0 0 6
CASK 1 3 2 0 0 0 6
CEP290 5 1 0 0 0 0 6
COL6A2 0 3 2 0 1 0 6
DCX 2 3 1 0 0 0 6
DEAF1 0 3 3 0 0 0 6
EBF3 1 4 1 0 0 0 6
GALC 3 2 1 0 0 0 6
GJB1 0 3 3 0 0 0 6
GLI2 2 1 3 0 0 0 6
GNB1 3 2 1 0 0 0 6
KCNH2 0 2 3 1 0 0 6
KIF1A 0 2 3 1 0 0 6
LZTR1 2 3 2 0 0 0 6
MC4R 1 4 0 1 0 0 6
MED12 0 2 4 0 0 0 6
MFN2 2 3 1 0 0 0 6
MYH11 0 0 5 1 0 0 6
NPR2 1 1 4 0 0 0 6
PCSK9 0 0 6 0 0 0 6
PKP2 4 1 1 0 0 0 6
PPP2R1A 1 3 2 0 0 0 6
QARS1 1 3 2 0 0 0 6
RAI1 1 2 2 1 0 0 6
SATB2 4 2 0 0 0 0 6
SON 3 2 1 0 0 0 6
SPG7 3 1 2 0 0 0 6
TRIP12 3 1 2 0 0 0 6
WWOX 4 1 1 0 0 0 6
BRAF 3 2 0 0 0 0 5
CACNA1E 1 0 4 0 0 0 5
CHKA 0 4 1 0 0 0 5
COL11A2 2 0 3 0 0 0 5
COL1A2 3 0 2 0 0 0 5
COL2A1 2 1 1 0 1 0 5
COL5A1 0 3 2 0 0 0 5
GABBR1 0 4 1 0 0 0 5
GABRB2 0 2 3 0 0 0 5
GNAS 1 2 2 0 0 0 5
GRIA2 1 2 2 0 0 0 5
GRID2 1 0 4 0 0 0 5
HBB, LOC106099062, LOC107133510 4 1 0 0 0 0 5
HCN1 1 1 3 0 0 0 5
KCNH1 3 1 2 0 0 0 5
KCNMA1 0 0 5 0 0 0 5
KIF11 1 3 1 0 0 0 5
LOC114803475, PPARG 1 3 1 0 0 0 5
MYT1L 0 3 2 0 0 0 5
NAA15 2 3 0 0 0 0 5
NALCN 0 0 3 1 1 0 5
NFKB1 3 2 0 0 0 0 5
NSD2 1 1 3 0 0 0 5
PAK1 0 4 1 0 0 0 5
PDHA1 2 3 0 0 0 0 5
PIK3CA 2 1 2 0 0 0 5
PNKP 0 2 3 0 0 0 5
POGZ 2 2 1 0 0 0 5
POLR2A 1 1 3 0 0 0 5
PURA 4 1 0 0 0 0 5
SETD1A 0 2 3 0 0 0 5
SETX 0 0 3 1 1 0 5
SLC32A1 0 3 2 0 0 0 5
SMAD6 0 1 4 0 0 0 5
SPAST 3 2 0 0 0 0 5
SQSTM1 1 1 3 0 0 0 5
TET3 0 2 3 0 0 0 5
TMEM67 1 0 4 0 0 0 5
WDR81 1 0 3 1 0 0 5
WFS1 1 2 2 0 0 0 5
AARS2, POLR1C 3 1 0 0 0 0 4
ADGRG1 1 2 1 0 0 0 4
ALG13 1 0 1 2 0 0 4
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 4 0 0 0 0 0 4
ASXL1 3 0 1 0 0 0 4
ATRIP, ATRIP-TREX1, TREX1 1 3 0 0 0 0 4
BCL11A 2 1 1 0 0 0 4
CACNA1A, LOC126862864 1 2 1 0 0 0 4
CACNA1C 0 2 2 0 0 0 4
CFTR, LOC111674477 0 3 1 0 0 0 4
CHD8 1 0 3 0 0 0 4
CHRNB2 1 1 2 0 0 0 4
CLCN4 1 1 2 0 0 0 4
CNKSR2 3 0 1 0 0 0 4
CNOT9 1 3 0 0 0 0 4
COL11A1 1 0 2 1 0 0 4
COL3A1 0 3 1 0 0 0 4
COL4A2 0 1 2 1 0 0 4
COL4A3, MFF-DT 0 0 4 0 0 0 4
CPLANE1 2 1 1 0 0 0 4
CSNK2A1 1 1 2 0 0 0 4
CTNNB1 3 1 0 0 0 0 4
CYP27A1 4 0 0 0 0 0 4
DHDDS 2 0 2 0 0 0 4
DICER1 0 1 1 2 0 0 4
DNM1L 0 1 3 0 0 0 4
DNMT3A 0 3 0 1 0 0 4
DSG2 0 3 1 0 0 0 4
DYNC2H1 0 0 4 0 0 0 4
EFTUD2 1 1 2 0 0 0 4
EIF2B5 0 1 3 0 0 0 4
GABRA1 0 3 1 0 0 0 4
GBA1, LOC106627981 2 1 1 0 0 0 4
GCH1 0 1 3 0 0 0 4
GH-LCR, GH1 1 0 3 0 0 0 4
GH-LCR, SCN4A 1 1 2 0 0 0 4
GJB2 3 0 1 0 0 0 4
GNAO1 0 2 2 0 0 0 4
GUCY2D 3 1 0 0 0 0 4
HNF1A 2 1 1 0 0 0 4
HTRA1 0 1 3 0 0 0 4
IDUA, SLC26A1 0 0 4 0 0 0 4
IGF1R 0 1 3 0 0 0 4
IGF2, INS-IGF2 0 3 1 0 0 0 4
IRAK1BP1, PHIP 2 2 0 0 0 0 4
IRF2BPL 2 1 1 0 0 0 4
KAT6A 1 1 2 0 0 0 4
KCNA2 0 3 1 0 0 0 4
KDM6B 1 1 2 0 0 0 4
KMT2A 1 1 2 0 0 0 4
KMT2B 2 0 2 0 0 0 4
LOC125467768, PCDH19 0 0 4 0 0 0 4
LPL 1 1 2 0 0 0 4
MEN1 0 0 4 0 0 0 4
MPZ 1 1 2 0 0 0 4
MTOR 2 2 0 0 0 0 4
MUTYH 2 2 0 0 1 0 4
MYH11, NDE1 0 1 2 1 0 0 4
NAA10 2 0 2 0 0 0 4
NFIA 1 2 1 0 0 0 4
NPC1 3 0 1 0 0 0 4
NPRL2 0 1 3 0 0 0 4
NUS1 1 3 1 0 0 0 4
OCA2 2 0 2 0 0 0 4
PHIP 0 0 4 0 0 0 4
PMM2 2 1 1 0 0 0 4
POLR2F, SOX10 2 2 0 1 0 0 4
POMGNT1, TSPAN1 1 1 2 0 0 0 4
PROM1 3 0 1 0 0 0 4
PUF60 0 4 0 0 0 0 4
RAG1 0 2 2 0 0 0 4
RHO 0 4 0 0 0 0 4
RPGR 1 3 0 0 0 0 4
RUNX2 2 2 0 0 0 0 4
SACS 2 0 2 0 0 0 4
SATB1 0 2 2 0 0 0 4
SELENON 3 0 1 0 0 0 4
SETD1B 2 1 1 0 0 0 4
SHH 0 0 4 0 0 0 4
SLC26A2 1 3 0 0 0 0 4
SMAD3 0 1 3 0 0 0 4
SMC1A 1 3 0 0 0 0 4
SMC3 0 3 0 1 0 0 4
SMPD1 2 2 0 0 0 0 4
SPG11 3 0 1 0 0 0 4
SPTBN2 0 0 4 0 0 0 4
STAT3 2 1 1 0 0 0 4
STK11 0 0 4 0 0 0 4
STX1B 1 2 1 0 0 0 4
SYNE1 1 0 2 0 1 0 4
TAOK1 0 3 1 0 0 0 4
TBL1XR1 0 1 3 0 0 0 4
TCF20 1 2 1 0 0 0 4
TCF4 1 2 1 0 0 0 4
TNFRSF13B 2 1 1 0 0 0 4
TNNT2 0 1 3 0 0 0 4
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF11, NBPF12, PRKAB2 3 0 0 0 0 0 3
ACTB 0 2 1 0 0 0 3
ADCY5 1 1 1 0 0 0 3
AHI1 3 0 0 0 0 0 3
AIFM1, RAB33A 0 1 2 0 0 0 3
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 3 0 0 0 0 0 3
ALDH7A1 1 1 1 0 0 0 3
ALOX12B 1 1 1 0 0 0 3
ANK1 1 2 0 0 0 0 3
ANKS6 1 2 0 0 0 0 3
APOE 0 0 2 0 1 0 3
AR 1 1 1 0 0 0 3
ARHGEF9 0 1 2 0 0 0 3
ARID2 1 1 0 0 1 0 3
ASL 2 1 0 0 0 0 3
ATL1 0 0 3 0 0 0 3
ATP13A2 1 0 2 0 0 0 3
ATP6V1A 0 1 2 0 0 0 3
ATP7A 1 0 2 0 0 0 3
BEST1 1 2 0 0 0 0 3
BLM 1 1 1 0 0 0 3
C1QTNF5, MFRP 1 1 1 0 0 0 3
CACNA1F 2 0 1 0 0 0 3
CACNA1G 0 0 2 1 0 0 3
CAMK2B 1 0 2 0 0 0 3
CAPRIN1 0 1 2 0 0 0 3
CARD11 0 0 3 0 0 0 3
CDHR1 0 2 1 0 0 0 3
CHRNA4 1 0 2 0 0 0 3
CIC 0 1 1 1 0 0 3
CLTC 1 1 1 0 0 0 3
CNOT1 1 0 2 0 0 0 3
COL18A1, SLC19A1 1 0 2 0 0 0 3
COL5A2 1 0 2 0 0 0 3
COL7A1 3 0 0 0 0 0 3
CPA6 0 1 2 0 0 0 3
CST3 0 0 3 0 0 0 3
CUL4B 1 2 0 0 0 0 3
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 2 0 1 0 0 0 3
DHX30 1 0 2 0 0 0 3
DNM1 0 0 3 0 0 0 3
EDA 2 0 1 0 0 0 3
EXT1 0 2 1 0 0 0 3
EZH2 1 1 1 0 0 0 3
FGD1 1 0 2 0 0 0 3
FGFR1 0 0 3 0 0 0 3
FLCN 2 0 0 1 0 0 3
FLNC 1 0 2 0 0 0 3
G6PD 0 3 0 0 0 0 3
GAA 2 0 1 0 0 0 3
GABRB1 0 3 0 0 0 0 3
GAMT 2 1 0 0 0 0 3
GATA2 0 1 2 0 0 0 3
GDI1 1 1 1 0 0 0 3
GLDC 0 2 0 1 0 0 3
GLS 3 0 0 0 0 0 3
HCN2 0 0 3 0 0 0 3
HEXA 1 2 0 0 0 0 3
HEXB 1 0 1 1 0 0 3
HGSNAT 1 2 0 0 0 0 3
HIVEP2 0 0 2 1 0 0 3
HNRNPU 1 0 2 0 0 0 3
HSPB1 1 1 1 0 0 0 3
IFIH1 0 0 2 1 0 0 3
IFT140 0 1 2 0 0 0 3
ITPR1 0 1 2 0 0 0 3
JAG1 1 1 1 0 0 0 3
KANSL1 2 1 0 0 0 0 3
KAT6B 2 1 0 0 0 0 3
KCNA1 0 2 1 0 0 0 3
KCNQ3 0 1 2 0 0 0 3
KCNT2 2 0 1 0 0 0 3
KDM4B 0 3 0 0 0 0 3
KDM6A 1 1 1 0 0 0 3
KIAA0586 3 0 0 0 0 0 3
KMT2E 1 1 1 0 0 0 3
KRIT1 0 2 1 0 0 0 3
LAMA4 0 0 2 0 1 0 3
LARP7, MIR302CHG 3 0 0 0 0 0 3
LOC108281177, SOX2, SOX2-OT 1 1 1 0 0 0 3
LOC126860802, ZMYND11 0 3 0 0 0 0 3
MADD 0 2 1 0 0 0 3
MAGEL2 1 1 1 0 0 0 3
MAP2K1 2 1 0 0 0 0 3
MCCC2 2 0 1 0 0 0 3
MEFV 0 0 3 0 0 0 3
MINPP1 0 3 0 0 0 0 3
MME 1 0 2 0 0 0 3
MORC2 1 1 1 0 0 0 3
MSL3 2 1 0 0 0 0 3
MT-ATP6 2 1 0 0 0 0 3
MYH2, MYHAS 0 1 2 0 0 0 3
MYO15A 0 1 1 1 0 0 3
NEFL 0 0 3 0 0 0 3
NFIB 0 0 3 0 0 0 3
NFIX 2 2 0 0 0 0 3
NR2E3 2 0 1 0 0 0 3
NR2F1 0 2 1 0 0 0 3
OCRL 0 1 2 0 0 0 3
OFD1 2 0 0 1 0 0 3
OPHN1 0 1 2 0 0 0 3
PAX3 1 2 0 0 0 0 3
PCNT 0 3 0 0 0 0 3
PGAP1 1 2 0 0 0 0 3
PGAP2 1 2 0 0 0 0 3
PHKA2 0 1 2 0 0 0 3
PIGT 2 0 1 0 0 0 3
PLA2G6 3 0 0 0 0 0 3
PNPO 1 1 1 0 0 0 3
POMT1 0 2 1 0 0 0 3
PPT1 1 1 1 0 0 0 3
PTCH2 3 0 0 0 0 0 3
RHOBTB2 1 1 1 0 0 0 3
ROGDI 2 1 0 0 0 0 3
RPS6KA3 0 3 0 0 0 0 3
SCN10A 0 0 3 0 0 0 3
SCN1A, SCN9A 0 1 1 1 0 0 3
SDHA 1 0 1 1 0 0 3
SETBP1 1 2 0 0 0 0 3
SH3TC2 2 0 1 0 0 0 3
SLC12A3 2 0 1 0 0 0 3
SLC34A1 0 0 3 0 0 0 3
SLC6A19 1 1 1 0 0 0 3
SLC7A9 1 0 2 0 0 0 3
SMAD4 3 0 0 0 0 0 3
SMARCA4 0 1 2 0 0 0 3
SOS1 0 1 2 0 0 0 3
SOX11 0 1 2 0 0 0 3
SPEN 2 1 0 0 0 0 3
SPINK1 0 0 1 1 0 1 3
SRCAP 1 0 1 1 0 0 3
TBC1D24 0 2 1 0 0 0 3
TBCD 1 1 1 0 0 0 3
TERT 1 0 1 1 0 0 3
TLK2 1 0 1 1 0 0 3
TRPM4 0 0 2 1 0 0 3
TRPV4 1 1 1 0 0 0 3
TUBB2B 0 1 2 0 0 0 3
WAS 0 1 2 0 0 0 3
WRN 2 0 1 0 0 0 3
​intergenic 2 0 0 0 0 0 2
ACADSB 0 1 1 0 0 0 2
ACSL4 0 1 0 1 0 0 2
ACTA1 1 1 0 0 0 0 2
ACTG1 0 1 1 0 0 0 2
ACTL6B 1 0 1 0 0 0 2
ACVRL1 2 0 0 0 0 0 2
ADA2 2 0 0 0 0 0 2
ADSL 1 0 1 0 0 0 2
AFF2 0 0 2 0 0 0 2
AFG2B 1 1 0 0 0 0 2
AGL 0 2 0 0 0 0 2
AKT3 0 2 0 0 0 0 2
ALDH18A1 1 0 1 0 0 0 2
AMER1 0 0 0 2 0 0 2
AMPD2 0 2 0 0 0 0 2
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 1 0 0 0 2
ANOS1 1 1 0 0 0 0 2
AP4B1 0 1 1 0 0 0 2
AP4S1 2 0 0 0 0 0 2
ARID1A, LOC129929837 0 0 1 1 0 0 2
ARSL 0 0 2 0 0 0 2
ARV1 0 1 1 0 0 0 2
ARX, LOC109610631 1 0 1 0 0 0 2
ASCC3 0 0 2 0 0 0 2
ASNS, CZ1P-ASNS 1 0 1 0 0 0 2
ATN1 0 0 1 1 0 0 2
ATP2A1, ATXN2L, CD19, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 2 0 0 0 0 0 2
ATP6V0A1 1 1 1 0 0 0 2
AVP 1 1 0 0 0 0 2
B3GAT3 1 1 0 0 0 0 2
BBS9 2 0 0 0 0 0 2
BCKDHA 2 0 0 0 0 0 2
BCOR 1 0 1 0 0 0 2
BICD2 0 1 1 0 0 0 2
BRWD3 0 0 2 0 0 0 2
C12orf57 2 0 0 0 0 0 2
CACNA1A, LOC126862866 0 1 1 0 0 0 2
CACNA1B 0 0 2 0 0 0 2
CACNA2D1 0 1 1 0 0 0 2
CAPN3 1 1 0 0 0 0 2
CASR 1 0 1 0 0 0 2
CC2D1A 1 1 0 0 0 0 2
CC2D2A 1 1 0 0 0 0 2
CCDC22 0 0 2 0 0 0 2
CCDST, FLG 2 0 0 0 0 0 2
CCND2 1 1 0 0 0 0 2
CDAN1 0 0 2 0 0 0 2
CDC73 1 0 1 0 0 0 2
CDK13 0 1 1 0 0 0 2
CDK8 0 2 0 0 0 0 2
CDKN1B 0 1 0 1 0 0 2
CDR2, EEF2K, MOSMO, NPIPB4, NPIPB5, OTOA, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 2 0 0 0 0 0 2
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 2
CERKL 2 0 0 0 0 0 2
CFH 1 1 0 0 0 0 2
CFHR5 0 0 2 0 0 0 2
CIROP 0 1 1 0 0 0 2
CLCN5 0 1 1 0 0 0 2
CLN3 1 0 1 0 0 0 2
CNNM4 0 2 0 0 0 0 2
CNOT3 1 1 0 0 0 0 2
COL10A1, NT5DC1 0 2 0 0 0 0 2
COL12A1 0 0 2 0 0 0 2
COLQ 1 0 1 0 0 0 2
CPLX1 1 1 0 0 0 0 2
CPT2 0 1 1 0 0 0 2
CTC1 1 1 0 0 0 0 2
CTSF 0 0 2 0 0 0 2
CYFIP2 1 0 1 0 0 0 2
CYP1B1 0 1 1 0 0 0 2
CYP4V2 2 0 0 0 0 0 2
DCHS1 0 0 2 0 0 0 2
DENND5A 0 1 1 0 0 0 2
DES 1 1 0 0 0 0 2
DHCR7 2 0 0 0 0 0 2
DOHH 0 0 2 0 0 0 2
DPP6 0 0 2 0 0 0 2
DPYD 0 1 1 0 0 0 2
DRAM2 0 1 1 0 0 0 2
DSC2 0 2 0 0 0 0 2
DYNC1H1, LOC126862060 0 0 1 1 0 0 2
ECEL1 0 2 0 0 0 0 2
EDAR, RANBP2 2 0 0 0 0 0 2
EEF1A2 0 1 2 0 0 0 2
EEF1A2, LOC132090595 0 0 2 0 0 0 2
EIF4A2 0 1 1 0 0 0 2
ELN 0 1 1 0 0 0 2
EPRS1 0 0 2 0 0 0 2
EVC 0 1 1 0 0 0 2
F7 0 1 1 0 0 0 2
FAH 2 0 0 0 0 0 2
FAT2, SLC36A1 0 0 2 0 0 0 2
FBXL4 2 0 0 0 0 0 2
FGFR2 1 0 1 0 0 0 2
FH 0 1 1 0 0 0 2
FRMD5 0 1 1 0 0 0 2
FRMPD4 0 1 1 0 0 0 2
FYCO1 1 1 0 0 0 0 2
G6PC1 2 0 0 0 0 0 2
GABRA3 0 0 2 0 0 0 2
GALNS 0 2 0 0 0 0 2
GARS1 1 1 0 0 0 0 2
GATAD2B 2 0 0 0 0 0 2
GBA1 0 2 0 0 0 0 2
GBE1 2 0 0 0 0 0 2
GCDH 2 0 0 0 0 0 2
GLA, RPL36A-HNRNPH2 0 1 0 0 1 0 2
GMPPB 2 0 0 0 0 0 2
GNAI1 0 1 1 0 0 0 2
GPAA1 0 1 1 0 0 0 2
GPIHBP1 0 1 1 0 0 0 2
GPR179 1 0 1 0 0 0 2
GRIA1 0 2 0 0 0 0 2
GRIN3B 0 0 2 0 0 0 2
H1-4 2 0 0 0 0 0 2
H3-3A 0 1 1 0 0 0 2
HAAO 0 0 2 0 0 0 2
HCFC1 0 0 2 0 0 0 2
HECW2 0 1 1 0 0 0 2
HERC2 0 0 2 0 0 0 2
HFE 1 0 1 0 0 0 2
HIBCH 0 1 1 0 0 0 2
HOXD13 1 1 0 0 0 0 2
HSD17B4, LOC129994460 1 0 1 0 0 0 2
HSPG2 0 0 1 1 0 0 2
IGF1R, LOC126862245 1 1 0 0 0 0 2
IGFALS 0 0 1 1 0 0 2
IL1RAPL1 0 0 2 0 0 0 2
IMPG2 1 1 0 0 0 0 2
INF2 1 0 1 0 0 0 2
IRAK4 1 0 1 0 0 0 2
IVD 2 0 0 0 0 0 2
KCNC1 0 1 1 0 0 0 2
KCNC3 1 1 0 0 0 0 2
KCNK9 0 1 1 0 0 0 2
KCNQ5 0 1 1 0 0 0 2
KDM5A 0 2 0 0 0 0 2
KDM5C 0 1 1 0 0 0 2
KLHL7 1 1 0 0 0 0 2
KRAS 2 0 1 0 0 0 2
KRT9 1 0 1 0 0 0 2
KYNU 0 1 1 0 0 0 2
L1CAM 1 1 0 0 0 0 2
L2HGDH 1 1 0 0 0 0 2
LAMA1 1 1 0 0 0 0 2
LMX1B 0 1 1 0 0 0 2
LOC101928008, SBF2 0 1 1 0 0 0 2
LOC105371856, TANC2 2 0 0 0 0 0 2
LOC126806425, TTN 0 0 2 0 0 0 2
LOC126806433, TTN 0 0 2 0 0 0 2
LOC126859837, SYNE1 0 0 1 1 0 0 2
LOC126861897, MHRT, MYH7 0 1 1 0 0 0 2
LOC126861898, MYH7 1 1 0 0 0 0 2
LOC130002133, PTCH1 0 1 0 1 0 0 2
LRP4 0 2 0 0 0 0 2
MACF1 0 0 1 1 0 0 2
MAD1L1 2 0 0 0 0 0 2
MBOAT7 1 1 0 0 0 0 2
MCM3AP 1 0 0 1 0 0 2
MED12L 0 2 0 0 0 0 2
MET 0 0 1 1 0 0 2
MHRT, MYH7 0 0 2 0 0 0 2
MITF 1 1 1 0 0 0 2
MMACHC 1 0 1 0 0 0 2
MT-ND5 2 0 0 0 0 0 2
MTHFR 1 0 1 0 0 0 2
MTRFR 0 2 0 0 0 0 2
MYL2 0 1 1 0 0 0 2
MYLK 1 0 1 0 0 0 2
MYO5B 1 0 0 1 0 0 2
NARS1 1 1 0 0 0 0 2
NARS2 0 0 2 0 0 0 2
NBEA 1 0 1 0 0 0 2
NBN 1 0 1 0 0 0 2
NDST1 0 2 0 0 0 0 2
NDUFS1 1 0 1 0 0 0 2
NEXN 0 0 2 0 0 0 2
NF2 0 2 0 0 0 0 2
NFU1 0 1 1 0 0 0 2
NOTCH2 1 0 1 0 0 0 2
NPHP3-ACAD11, UBA5 0 1 1 0 0 0 2
NPHS2 0 0 2 0 0 0 2
NPRL3 1 1 0 0 0 0 2
NR4A2 1 1 0 0 0 0 2
NRXN1 2 0 0 0 0 0 2
NTRK1 1 0 0 0 1 0 2
OTC 2 0 0 0 0 0 2
P3H1 0 0 1 1 0 0 2
PARS2 0 0 2 0 0 0 2
PAX2 0 0 2 0 0 0 2
PAX6 2 0 0 0 0 0 2
PDE8B 0 0 2 0 0 0 2
PDHX 2 0 0 0 0 0 2
PHEX 1 0 1 0 0 0 2
PHF21A 0 1 1 0 0 0 2
PHF6 1 1 0 0 0 0 2
PIGA 0 0 2 0 0 0 2
PIGN 0 1 1 0 0 0 2
PIGV 1 1 0 0 0 0 2
PIK3R1 0 1 1 0 0 0 2
PIK3R2 0 1 1 0 0 0 2
PKD1L1 0 0 1 1 0 0 2
PLCB4 1 0 1 0 0 0 2
PLEC 0 0 2 0 0 0 2
POLE 0 0 2 0 0 0 2
POLR1A 0 0 2 0 0 0 2
POLR3B 1 1 0 0 0 0 2
POMC 0 0 2 0 0 0 2
POU3F3 0 2 0 0 0 0 2
PPIL1 0 0 2 0 0 0 2
PPM1D 0 1 1 0 0 0 2
PRKD1 0 0 1 0 1 0 2
PROP1 0 2 0 0 0 0 2
PTCHD1 0 1 1 0 0 0 2
PTDSS1 0 0 2 0 0 0 2
PTPRQ 0 1 1 0 0 0 2
RAF1 0 0 2 0 0 0 2
RELN 0 0 2 0 0 0 2
RELN, SLC26A5 0 0 2 0 0 0 2
RERE 0 0 1 0 1 0 2
RFXANK 0 2 0 0 0 0 2
ROBO4 0 0 2 0 0 0 2
RORA 0 0 1 1 0 0 2
RORB 1 0 1 0 0 0 2
RPE65 2 0 0 0 0 0 2
SAG 1 0 1 0 0 0 2
SALL4 0 1 1 0 0 0 2
SBDS 2 0 0 0 0 0 2
SCAF4 1 1 0 0 0 0 2
SCN1B 0 0 2 0 0 0 2
SCN9A 0 1 1 0 0 0 2
SDHAF2 0 1 1 0 0 0 2
SDHB 1 1 0 0 0 0 2
SDR9C7 0 1 1 0 0 0 2
SEMA6B 1 1 0 0 0 0 2
SEPSECS 0 0 2 0 0 0 2
SERPING1 1 1 0 0 0 0 2
SET 0 1 1 0 0 0 2
SETD2 0 1 1 0 0 0 2
SFTPB 2 0 0 0 0 0 2
SFXN4 2 0 0 0 0 0 2
SGSH 0 2 0 0 0 0 2
SIM1 0 0 2 0 0 0 2
SLC16A1 0 0 2 0 0 0 2
SLC1A3 0 0 2 0 0 0 2
SLC25A1 1 1 0 0 0 0 2
SLC30A5 0 2 0 0 0 0 2
SLC35A2 1 1 0 0 0 0 2
SLC3A1 0 1 1 0 0 0 2
SLC4A4 1 1 0 0 0 0 2
SLC5A7 0 1 1 0 0 0 2
SMARCC2 1 1 1 0 0 0 2
SNHG14, UBE3A 1 1 0 0 0 0 2
SORD 1 0 1 0 0 0 2
SOX4 0 0 2 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 1 1 0 0 0 2
SPTA1 0 0 2 0 0 0 2
SPTBN1 0 0 2 0 0 0 2
SRRM2 1 1 0 0 0 0 2
STAT5B 0 0 2 0 0 0 2
SUFU 0 1 1 0 0 0 2
SYN1 0 1 1 0 0 0 2
SYNE2 0 0 1 1 0 0 2
TAF13 2 0 0 0 0 0 2
TANC2 1 1 0 0 0 0 2
TBR1 0 2 0 0 0 0 2
TCF12 1 1 0 0 0 0 2
TCF3 0 1 1 0 0 0 2
TGFBR2 0 1 1 0 0 0 2
TMCO1 1 0 1 0 0 0 2
TMEM127 1 1 0 0 0 0 2
TMPRSS3 0 1 1 0 0 0 2
TNPO2 0 1 1 0 0 0 2
TPM3 0 0 2 0 0 0 2
TRAPPC9 0 0 1 0 1 0 2
TRIT1 0 1 1 0 0 0 2
TRMT1 2 0 0 0 0 0 2
TRPC6 0 0 2 0 0 0 2
TRPS1 1 0 1 0 0 0 2
TSEN54 1 0 1 0 0 0 2
TTBK2 0 1 1 0 0 0 2
TTC7A 0 0 2 0 0 0 2
TUBB2A 0 2 0 0 0 0 2
TUBB4A 1 0 1 0 0 0 2
UBE3B 0 0 2 0 0 0 2
UNC13A 0 1 1 0 0 0 2
UNC13D 2 0 0 0 0 0 2
UNC80 1 0 0 1 0 0 2
UPF3B 0 2 0 0 0 0 2
USP9X 0 1 1 0 0 0 2
VARS1 0 1 1 0 0 0 2
VPS13A 0 1 1 0 0 0 2
VPS33B 1 1 0 0 0 0 2
WAC 0 1 1 0 0 0 2
WDR26 1 0 1 0 0 0 2
YARS1 1 0 1 0 0 0 2
YWHAG 2 0 0 0 0 0 2
ZBTB18 0 1 1 0 0 0 2
ZBTB20 1 0 1 0 0 0 2
ZMIZ1 0 1 1 0 0 0 2
ZNF292 1 1 0 0 0 0 2
ZNF462 2 0 0 0 0 0 2
ZSWIM6 0 0 2 0 0 0 2
A4GALT, ACR, ADM2, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CDPF1, CELSR1, CENPM, CERK, CHKB, CIMAP1B, CPT1B, CRELD2, CYB5R3, CYP2D6, DENND6B, EFCAB6, FAM118A, FBLN1, GRAMD4, GTSE1, HDAC10, IL17REL, KIAA0930, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIRLET7A3, MIRLET7B, MLC1, MOV10L1, MPPED1, NAGA, NCAPH2, NDUFA6, NFAM1, NUP50, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPARA, PPP6R2, PRR34, PRR5, PRR5-ARHGAP8, RIBC2, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SELENOO, SEPTIN3, SERHL2, SHANK3, SHISAL1, SMC1B, SMDT1, SULT4A1, SYCE3, TAFA5, TBC1D22A, TCF20, TRABD, TRMU, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, ZBED4 1 0 0 0 0 0 1
A4GALT, ACR, ADM2, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CDPF1, CELSR1, CENPM, CERK, CHKB, CPT1B, CRELD2, CYB5R3, CYP2D6, DENND6B, EFCAB6, FAM118A, FBLN1, GRAMD4, GTSE1, HDAC10, IL17REL, KIAA0930, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIRLET7A3, MIRLET7B, MLC1, MOV10L1, MPPED1, NAGA, NCAPH2, NDUFA6, NFAM1, NUP50, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPARA, PPP6R2, PRR34, PRR5, PRR5-ARHGAP8, RABL2B, RIBC2, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SELENOO, SEPTIN3, SERHL2, SHANK3, SHISAL1, SMC1B, SMDT1, SULT4A1, SYCE3, TAFA5, TBC1D22A, TCF20, TNFRSF13C, TRABD, TRMU, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, ZBED4 1 0 0 0 0 0 1
A4GALT, ARFGAP3, ATP5MGL, BIK, CYB5R3, CYP2D6, MCAT, NAGA, NDUFA6, NFAM1, PACSIN2, PHETA2, POLDIP3, RRP7A, SCUBE1, SEPTIN3, SERHL2, SMDT1, TCF20, TSPO, TTLL1, TTLL12, WBP2NL 1 0 0 0 0 0 1
AACS, ABCB9, ACADS, ADGRD1, ANAPC5, ANHX, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CIT, CLIP1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FBXO21, FBXW8, FZD10, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HPD, HSPB8, IL31, KDM2B, KMT5A, KNTC1, KSR2, LRCOL1, LRRC43, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NOS1, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PEBP1, PGAM5, PITPNM2, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, RAB35, RAN, RFC5, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RPLP0, RSRC2, SBNO1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNRNP35, SPPL3, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TCTN2, TESC, TMED2, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, VSIG10, WSB2, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF84, ZNF891 0 1 0 0 0 0 1
AADAC, AADACL2, AGTR1, ANKUB1, ARHGEF26, C3orf33, CCNL1, CHST2, CLRN1, COMMD2, CP, CPA3, CPB1, DHX36, DIPK2A, EIF2A, ERICH6, GMPS, GPR149, GPR171, GPR87, GYG1, HLTF, HPS3, IGSF10, KCNAB1, LEKR1, LINC02877, MBNL1, MED12L, MINDY4B, MME, P2RY1, P2RY12, P2RY13, P2RY14, PFN2, PLCH1, PLOD2, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PTX3, RAP2B, RNF13, RSRC1, SELENOT, SERP1, SHOX2, SIAH2, SLC33A1, SLC9A9, SSR3, SUCNR1, TIPARP, TM4SF1, TM4SF18, TM4SF4, TSC22D2, U2SURP, VEPH1, WWTR1, ZIC1, ZIC4 1 0 0 0 0 0 1
AAGAB 1 0 0 0 0 0 1
AAMDC, AASDHPPT, ABCC8, ABTB2, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACTN3, ACY3, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, AP5B1, API5, APIP, APLNR, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARFGAP2, ARHGAP1, ARHGAP20, ARHGAP42, ARHGEF17, ARL14EP, ARL2, ARRB1, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT3, B3GNT6, B4GAT1, BACE1, BAD, BANF1, BATF2, BBOX1, BBS1, BCO2, BDNF, BEST1, BIRC2, BIRC3, BMAL1, BRMS1, BSCL2, BTBD10, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CBLIF, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CELF1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLNS1A, CLP1, CLPB, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CREB3L1, CREBZF, CRY2, CRYAB, CSKMT, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CYB561A3, CYP2R1, DAGLA, DBX1, DCDC1, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EIF1AD, EIF3M, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, ESRRA, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FGF19, FGF3, FGF4, FIBIN, FIBP, FJX1, FKBP2, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GAS2, GDPD4, GDPD5, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRIA4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, HARBI1, HEPHL1, HIKESHI, HIPK3, HNRNPUL2, HOATZ, HPS5, HSD17B12, HSPB2, HTATIP2, HTR3A, HTR3B, IFTAP, IGHMBP2, IGSF22, IL10RA, IL18, IL18BP, IMMP1L, INCENP, INPPL1, INSC, INTS4, INTS5, IZUMO1R, JAML, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ11, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LIPT2, LMO2, LOC100132686, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, LUZP2, MACROD1, MADD, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MDK, ME3, MED17, MED19, MEN1, METTL15, MICAL2, MICALCL, MIR130A, MIR139, MIR192, MIR194-2, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUC15, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NELL1, NEU3, NKAPD1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRXN2, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OMP, OOSP2, OR10AG1, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6Q1, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTOG, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PARVA, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGM2L1, PGR, PHF21A, PHOX2A, PICALM, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RASSF10, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, ROM1, RPS13, RPS3, RPS6KA4, RPS6KB2, RRAS2, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN4B, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX32, SOX6, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRSF8, SSH3, SSRP1, STARD10, STIP1, STX3, STX5, SVIP, SYT12, SYT13, SYT7, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TENM4, TESMIN, TEX12, THAP12, THRSP, TIGD3, TIMM10, TIMM8B, TKFC, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM223, TMEM258, TMEM86A, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TOP6BL, TP53I11, TPBGL, TPCN2, TPH1, TRAF6, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC9C, TUT1, TYR, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UQCC3, USH1C, USP28, USP35, USP47, UVRAG, VEGFB, VPS37C, VPS51, VSTM5, VWCE, WDR74, WNT11, WT1, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10 1 0 0 0 0 0 1
AAMP, ABCA12, ABCB6, ABI2, ACADL, ACSL3, ADAM23, ALS2, ANKAR, ANKRD44, ANKZF1, AOX1, ARPC2, ASIC4, ASNSD1, ATG9A, ATIC, BARD1, BCS1L, BMPR2, BOLL, BZW1, C2CD6, C2orf66, C2orf69, C2orf80, C2orf88, CALCRL, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC140, CCDC150, CCNYL1, CD28, CDK15, CDK5R2, CFAP65, CFLAR, CHPF, CLK1, CMKLR2, CNOT9, CNPPD1, COL3A1, COL5A2, COQ10B, CPO, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTDSP1, CTLA4, CXCR1, CXCR2, CYP20A1, CYP27A1, DES, DIRC1, DIRC3, DNAH7, DNAJB2, DNPEP, DYTN, EEF1B2, EPHA4, ERBB4, FAM117B, FAM171B, FARSB, FASTKD2, FEV, FLACC1, FN1, FTCDNL1, FZD5, FZD7, GLB1L, GLS, GMPPA, GPBAR1, GTF3C3, GULP1, HECW2, HIBCH, HSPD1, HSPE1, HYCC2, ICA1L, ICOS, IDH1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP1, ITGAV, KANSL1L, KCNE4, KCTD18, KLF7, LANCL1, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFSD6, MIR26B, MIR375, MOB4, MOGAT1, MPP4, MREG, MSTN, MYL1, MYO1B, NAB1, NABP1, NBEAL1, NDUFB3, NDUFS1, NEMP2, NHEJ1, NIF3L1, NOP58, NRP2, OBSL1, ORC2, ORMDL1, OSGEPL1, PARD3B, PAX3, PCGEM1, PECR, PGAP1, PIKFYVE, PLCD4, PLCL1, PLEKHM3, PMS1, PNKD, PPIL3, PRKAG3, PTH2R, PTPRN, RAPH1, RESP18, RETREG2, RFTN2, RNF25, RPE, RPL37A, RUFY4, SATB2, SF3B1, SGO2, SGPP2, SLC11A1, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SPAG16, SPATS2L, SPEG, STAT1, STAT4, STK11IP, STK16, STK17B, STK36, STRADB, SUMO1, TFPI, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNS1, TRAK2, TTLL4, TUBA4A, TYW5, UNC80, USP37, VIL1, VWC2L, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZSWIM2 1 0 0 0 0 0 1
AARS1 0 0 1 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3F, ZNHIT3 0 1 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3H, ZNHIT3 1 0 0 0 0 0 1
ABCA12 0 1 0 0 0 0 1
ABCA2, ANAPC2, ARRDC1, C8G, CACNA1B, CIMIP2A, CLIC3, CYSRT1, DPH7, DPP7, EHMT1, ENTPD2, ENTPD8, EXD3, FBXW5, FUT7, GRIN1, LCN12, LCNL1, LINC02908, LOC651337, LRRC26, MAN1B1, MRPL41, NDOR1, NELFB, NOXA1, NPDC1, NRARP, NSMF, PAXX, PNPLA7, PTGDS, RNF208, RNF224, SAPCD2, SLC34A3, SSNA1, STPG3, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 0 0 0 0 1
ABCA4, LOC126805793 1 0 0 0 0 0 1
ABCA5 0 0 0 1 0 0 1
ABCB7 0 0 1 0 0 0 1
ABCB9, ANAPC5, ARL6IP4, B3GNT4, BCL7A, C12orf43, CAMKK2, CCDC62, CDK2AP1, CFAP251, CLIP1, DDX55, DENR, DIABLO, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HPD, IL31, KDM2B, KMT5A, KNTC1, LRRC43, MLXIP, MORN3, MPHOSPH9, MTRFR, OASL, OGFOD2, ORAI1, P2RX4, P2RX7, PITPNM2, PSMD9, RHOF, RILPL1, RILPL2, RNF34, RSRC2, SBNO1, SETD1B, SNRNP35, SPPL3, TMED2, TMEM120B, VPS33A, VPS37B, ZCCHC8 0 0 1 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, XYLT1 1 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 0 1
ABCD4 0 0 1 0 0 0 1
ABCF2, AGAP3, ASB10, ASIC3, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KMT2C, MIR671, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 1 0 0 0 0 0 1
ABCG5 0 0 1 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 0 1
ABHD16B, ADRM1, ANKRD60, APCDD1L, ARFGAP1, ARFRP1, ATP5F1E, AURKA, BHLHE23, BIRC7, BMP7, CABLES2, CASS4, CBLN4, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CSTF1, CTCFL, CTSZ, CYP24A1, DIDO1, DNAJC5, DOK5, EDN3, EEF1A2, FAM209A, FAM209B, FAM210B, FAM217B, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, LAMA5, LIME1, LINC01711, LINC02910, LKAAEAR1, LOC100128310, LSM14B, MC3R, MIR1-1, MIR1-1HG, MIR133A2, MIR296, MIR298, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NPBWR2, NPEPL1, NTSR1, OGFR, OPRL1, OSBPL2, PCK1, PCMTD2, PFDN4, PHACTR3, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RGS19, RPS21, RTEL1, RTF2, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, SYCP2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TPD52L2, TUBB1, UCKL1, VAPB, YTHDF1, ZBP1, ZBTB46, ZGPAT, ZNF512B, ZNF831 0 0 1 0 0 0 1
ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, AEN, AGBL1, AKAP13, ALDH1A3, ALPK3, ANKRD34C, ANPEP, AP3B2, AP3S2, ARNT2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, CEMIP, CERS3, CFAP161, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIB1, CIB2, CIMAP1C, COMMD4, COX5A, CPEB1, CRABP1, CRTC3, CSPG4, CTSH, DET1, DNAJA4, EFL1, ETFA, FAH, FAM174B, FAM219B, FANCI, FBXO22, FES, FSD2, FURIN, GDPGP1, GOLGA6C, GOLGA6D, HAPLN3, HDDC3, HMG20A, HOMER2, HYKK, IDH2, IDH3A, IGF1R, IL16, IMP3, IQGAP1, IREB2, ISG20, ISL2, KIF7, KLHL25, LINC00928, LINGO1, LINS1, LRRC28, LRRK1, LYSMD4, MAN2A2, MAN2C1, MCTP2, MEF2A, MESD, MESP1, MESP2, MEX3B, MFGE8, MINAR1, MIR184, MIR9-3, MORF4L1, MPI, MRPL46, MRPS11, MTHFS, NEIL1, NGRN, NMB, NR2F2, NRG4, NTRK3, OR4F15, OR4F4, OR4F6, PCSK6, PDE8A, PEAK1, PEX11A, PGPEP1L, PLIN1, POLG, PPCDC, PRC1, PSMA4, PSTPIP1, PTPN9, RAMAC, RASGRF1, RCCD1, RCN2, RGMA, RHCG, RLBP1, RPP25, RPS17, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SEC11A, SELENOS, SEMA4B, SH2D7, SH3GL3, SIN3A, SKIC8, SLC28A1, SLCO3A1, SNRPA1, SNUPN, SNX33, SPATA8, ST20, ST20-MTHFS, ST8SIA2, STARD5, SV2B, SYNM, TARS3, TBC1D2B, TICRR, TLNRD1, TM2D3, TM6SF1, TMC3, TMED3, TMEM266, TSPAN3, TTC23, UBE2Q2, UNC45A, VPS33B, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF710, ZNF774, ZSCAN2 1 0 0 0 0 0 1
ABRAXAS2, ADAM12, ADAM8, ADGRA1, BCCIP, BNIP3, BUB3, C10orf90, CALY, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CYP2E1, DHX32, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EEF1AKMT2, FAM53B, FANK1, FOXI2, FRG2B, FUOM, GLRX3, GPR26, HMX2, HMX3, INPP5A, INSYN2A, JAKMIP3, KNDC1, LHPP, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, OAT, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TCERG1L, TEX36, TUBGCP2, UROS, UTF1, VENTX, ZNF511, ZRANB1 1 0 0 0 0 0 1
ACADS 1 0 0 0 0 0 1
ACADVL 0 0 0 1 0 0 1
ACAP2, APOD, BDH1, CEP19, DLG1, DYNLT2B, FAM157A, FBXO45, FYTTD1, IQCG, LMLN, LRCH3, MELTF, MIR570, MUC20, MUC4, NCBP2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, PPP1R2, RNF168, RPL35A, RUBCN, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, TNK2, UBXN7, WDR53, XXYLT1, ZDHHC19 0 0 1 0 0 0 1
ACBD6, LHX4 0 0 1 0 0 0 1
ACKR3, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, RTP5, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 1
ACO2 0 0 1 0 0 0 1
ACOT8, ADA, ARFGEF2, B4GALT5, CCN5, CD40, CDH22, CSE1L, CTSA, DBNDD2, DDX27, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, HNF4A, KCNB1, KCNK15, KCNS1, MATN4, MMP9, NCOA3, NCOA5, NEURL2, OCSTAMP, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, PREX1, PTGIS, RBPJL, RIMS4, RNF114, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLC9A8, SLPI, SNX21, SPATA2, SPATA25, SPINT3, SPINT4, STAU1, STK4, SULF2, SYS1, TNNC2, TOMM34, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZMYND8, ZNF334, ZNF335, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 1 0 0 0 0 0 1
ACOX1 0 0 0 1 0 0 1
ACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, MERTK, RGPD6, RGPD8, TMEM87B, ZC3H6, ZC3H8 1 0 0 0 0 0 1
ACP1, ALKAL2, FAM110C, MYT1L, PXDN, SH3YL1, SNTG2, TMEM18, TPO 1 0 0 0 0 0 1
ACP5 0 0 1 0 0 0 1
ACP6, ADAM15, ADAMTSL4, ADAR, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, AQP10, ARHGEF11, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BCL9, BGLAP, BNIPL, BOLA1, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CD160, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHD1L, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, ETV3, ETV3L, FALEC, FAM72C, FAM72D, FCGR1A, FCRL3, FCRL4, FCRL5, FDPS, FLAD1, FLG, FLG2, FMO5, GABPB2, GATAD2B, GBA1, GJA5, GJA8, GLMP, GOLPH3L, GON4L, GPATCH4, GPR89A, GPR89B, H2AC18, H2AC19, H2AC20, H2AC21, H2BC18, H2BC21, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HJV, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITGA10, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LIX1L, LMNA, LOC101928034, LORICRIN, LRRC71, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NES, NOTCH2NLA, NPR1, NTRK1, NUDT17, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PDE4DIP, PDZK1, PEAR1, PEX11B, PGLYRP3, PGLYRP4, PI4KB, PIAS3, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, POLR3C, POLR3GL, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PRCC, PRKAB2, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RBM8A, RFX5, RHBG, RIIAD1, RIT1, RNF115, RORC, RPRD2, RPS27, RPTN, RUSC1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SRGAP2B, SSR2, SV2A, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRH-GTG2-1, TRIM46, TRN-GTT2-7, TSACC, TTC24, TUFT1, TXNIP, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 0 1
ACP7, ACTMAP, ACTN4, AKT2, ALKBH6, ANKRD27, APLP1, ARHGAP33, ATP13A1, ATP4A, BLVRB, C19orf12, C19orf33, C19orf47, CAPN12, CAPNS1, CATSPERG, CCNE1, CCNP, CD22, CEBPA, CEBPG, CEP89, CHST8, CILP2, CLC, CLIP3, COQ8B, COX6B1, COX7A1, DLL3, DMKN, DPF1, DPY19L3, DYRK1B, ECH1, EGLN2, EID2, EID2B, EIF3K, ETV2, FAAP24, FAM187B, FAM98C, FBL, FBXO17, FBXO27, FCGBP, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GARRE1, GATAD2A, GGN, GMFG, GMIP, GPATCH1, GPI, GPR42, GRAMD1A, HAMP, HAUS5, HCST, HIPK4, HNRNPL, HPN, HSPB6, IFNL1, IFNL2, IFNL3, IGFLR1, ITPKC, KCNK6, KCTD15, KIRREL2, KMT2B, KRTDAP, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LIN37, LOC100507646, LPAR2, LRFN1, LRFN3, LRP3, LSM14A, LSR, LTBP4, MAG, MAP3K10, MAP4K1, MED29, MIA, MRPS12, NCCRP1, NDUFA13, NFKBIB, NFKBID, NPHS1, NUDT19, NUMBL, OVOL3, PAF1, PAK4, PBX4, PDCD2L, PDCD5, PEPD, PLD3, PLEKHF1, PLEKHG2, POLR2I, POP4, PPP1R14A, PRODH2, PROSER3, PRX, PSENEN, PSMC4, PSMD8, RAB4B, RASGRP4, RBM42, RGS9BP, RHPN2, RINL, RPS16, RYR1, SAMD4B, SARS2, SBSN, SCGB2B2, SCN1B, SDHAF1, SELENOV, SERTAD1, SERTAD3, SHKBP1, SIPA1L3, SIRT2, SLC7A10, SLC7A9, SNRPA, SPINT2, SPRED3, SPTBN4, SUPT5H, SYCN, SYNE4, TBCB, TDRD12, THAP8, TIMM50, TMEM147, TSHZ3, TSSK6, TTC9B, TYROBP, U2AF1L4, UBA2, UPK1A, UQCRFS1, URI1, USF2, VSTM2B, WDR62, WDR87, WDR88, WTIP, YIF1B, YJEFN3, ZBTB32, ZFP14, ZFP30, ZFP36, ZFP82, ZNF100, ZNF101, ZNF14, ZNF146, ZNF181, ZNF208, ZNF253, ZNF254, ZNF257, ZNF260, ZNF30, ZNF302, ZNF345, ZNF382, ZNF383, ZNF420, ZNF429, ZNF43, ZNF430, ZNF431, ZNF461, ZNF486, ZNF492, ZNF493, ZNF506, ZNF507, ZNF527, ZNF529, ZNF536, ZNF540, ZNF546, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF626, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF780A, ZNF780B, ZNF781, ZNF790, ZNF792, ZNF793, ZNF829, ZNF85, ZNF850, ZNF875, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99 1 0 0 0 0 0 1
ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 1 0 0 0 0 0 1
ACRBP, ACSM4, ADIPOR2, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FBXL14, FERRY3, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, LAG3, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, MIR141, MIR200C, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SPSB2, TAPBPL, TEAD4, TIGAR, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 1 0 0 0 0 0 1
ACTA2 0 1 0 0 0 0 1
ACTB, FBXL18, RBAK, RBAK-RBAKDN, SLC29A4, TNRC18, WIPI2 1 0 0 0 0 0 1
ACTN2 0 0 1 0 0 0 1
ACTN4 0 0 1 0 0 0 1
ADAM18, ADAM2, ADAM32, ADAM9, ADGRA2, ADRB3, ANK1, AP3M2, ASH2L, BAG4, BRF2, CEBPD, CHRNA6, CHRNB3, CLXN, DDHD2, DKK4, EIF4EBP1, ERLIN2, FGFR1, FNTA, GINS4, GOLGA7, GOT1L1, GPAT4, HGSNAT, HOOK3, HTRA4, IDO1, IDO2, IKBKB, KAT6A, KCNU1, LETM2, LINC00293, LINC03042, LSM1, MCM4, NKX6-3, NSD3, PLAT, PLEKHA2, PLPBP, PLPP5, POLB, POMK, POTEA, PPDPFL, PRKDC, RAB11FIP1, RNF170, SFRP1, SLC20A2, SMIM19, SNAI2, SNTG1, SPIDR, STAR, TACC1, TCIM, THAP1, TM2D2, UBE2V2, VDAC3, ZMAT4, ZNF703 1 0 0 0 0 0 1
ADAR 0 0 1 0 0 0 1
ADARB1 0 0 1 0 0 0 1
ADARB2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, DIP2C, GTPBP4, IDI1, IDI2, KLF6, LARP4B, PFKP, PITRM1, TUBB8, WDR37, ZMYND11 1 0 0 0 0 0 1
ADAT3, SCAMP4 0 0 1 0 0 0 1
ADCK2, AGBL3, AGK, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ARHGEF35, ARHGEF5, ATP6V0A4, BPGM, BRAF, CALD1, CASP2, CHRM2, CLCN1, CLEC2L, CLEC5A, CNOT4, CNTNAP2, CREB3L2, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CYREN, DENND11, DENND2A, DGKI, EPHA1, EPHB6, FAM131B, FAM180A, FMC1, FMC1-LUC7L2, GSTK1, IFT56, KDM7A, KEL, KIAA1549, KLRG2, LLCFC1, LRGUK, LUC7L2, LUZP6, MGAM, MKRN1, MRPS33, MTPN, MTRNR2L6, NDUFB2, NOBOX, NUP205, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, PARP12, PIP, PRSS1, PRSS37, PRSS58, PTN, RAB19, SLC13A4, SLC35B4, SLC37A3, SSBP1, STMP1, STRA8, SVOPL, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TBXAS1, TCAF1, TCAF2, TMEM139, TMEM140, TMEM178B, TMEM213, TPK1, TRB, TRIM24, TRPV5, TRPV6, UBN2, WDR91, WEE2, ZC3HAV1, ZC3HAV1L, ZYX 1 0 0 0 0 0 1
ADCY9 0 0 1 0 0 0 1
ADCYAP1, AFG3L2, AKAIN1, ANKRD12, ANKRD30B, ANKRD62, APCDD1, ARHGAP28, CEP192, CEP76, CETN1, CHMP1B, CIDEA, CLUL1, COLEC12, DLGAP1, EMILIN2, ENOSF1, EPB41L3, FAM210A, GNAL, IMPA2, L3MBTL4, LAMA1, LDLRAD4, LPIN2, LRRC30, MC2R, MC5R, METTL4, MPPE1, MTCL1, MYL12A, MYL12B, MYOM1, NAPG, NDC80, NDUFV2, PIEZO2, POTEC, PPP4R1, PRELID3A, PSMG2, PTPN2, PTPRM, RAB12, RAB31, RALBP1, RNMT, SEH1L, SLC35G4, SMCHD1, SPIRE1, TGIF1, THOC1, TMEM200C, TUBB6, TWSG1, TXNDC2, TYMS, TYMSOS, USP14, VAPA, YES1, ZBTB14, ZNF519 1 0 0 0 0 0 1
ADD3 1 0 0 0 0 0 1
ADIRF, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, LDB3, LINC01520, LOC101929662, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NUTM2A, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TSPAN14, WAPL 1 0 0 0 0 0 1
ADORA2A, BCR, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 1 0 0 0 0 0 1
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 1 0 0 0 0 0 1
ADRA2A, BBIP1, DUSP5, MXI1, PDCD4, RBM20, SHOC2, SMC3, SMNDC1 0 0 1 0 0 0 1
ADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, NCAPH, SEMA4C, SNRNP200, STARD7, TMEM127 1 0 0 0 0 0 1
AFG3L2 0 0 1 0 0 0 1
AFG3L2, TUBB6 0 0 1 0 0 0 1
AGA 0 0 1 0 0 0 1
AGAP10, AGAP4, AGAP6, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25E, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WASHC2A, WASHC2C, WDFY4, ZNF488 1 0 0 0 0 0 1
AGBL5, CENPA, CGREF1, CIB4, DPYSL5, EMILIN1, KCNK3, KHK, MAPRE3, OST4, SLC35F6, TMEM214 0 0 1 0 0 0 1
AGO1 1 0 0 0 0 0 1
AGO2, LOC126860545 0 1 0 0 0 0 1
AGPAT2 0 1 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, C8orf74, CLDN23, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERI1, ERICH1, FBXO25, KBTBD11, MCPH1, MFHAS1, MIR124-1, MSRA, MTMR9, MYOM2, OR4F21, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SOX7, SPAG11A, SPAG11B, TDRP, TNKS, USP17L1, USP17L3, USP17L4, USP17L8, XKR5, XKR6, ZNF596, ZNF705B, ZNF705G 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, OR4F21, TDRP, USP17L1, USP17L4, XKR5, ZNF596 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, OR4F21, TDRP, ZNF596 0 1 0 0 0 0 1
AGTR1 1 0 0 0 0 0 1
AGXT 0 0 1 0 0 0 1
AHDC1 0 0 1 0 0 0 1
AHNAK2 0 0 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
AIFM3, CRKL, FAM230A, GGT2, KLHL22, LZTR1, MED15, P2RX6, PI4KA, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, USP41, ZNF74 1 0 0 0 0 0 1
AIP 0 0 1 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 1
ALDH5A1 0 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1B, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, SULT1A3, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf92, CD2BP2, CDIPT, CORO1A, DCTPP1, DOC2A, FBRS, GDPD3, HIRIP3, INO80E, ITGAL, KCTD13, KIF22, MAPK3, MAZ, MVP, MYL11, PAGR1, PPP4C, PRR14, PRRT2, SEPHS2, SEPTIN1, SEZ6L2, SLX1A, SRCAP, SULT1A3, TAOK2, TBC1D10B, TBX6, TLCD3B, TMEM219, YPEL3, ZNF48, ZNF688, ZNF689, ZNF747, ZNF764, ZNF768, ZNF771, ZNF785 1 0 0 0 0 0 1
ALDOA, BOLA2B, C16orf92, CD2BP2, CORO1A, DCTPP1, DOC2A, GDPD3, HIRIP3, INO80E, ITGAL, MAPK3, MYL11, PPP4C, SEPHS2, SEPTIN1, SLX1A, SULT1A3, TAOK2, TBC1D10B, TBX6, TLCD3B, TMEM219, YPEL3, ZNF48, ZNF688, ZNF747, ZNF764, ZNF768, ZNF771, ZNF785 0 1 0 0 0 0 1
ALDOB, ALG2, ANKS6, ANP32B, AOPEP, BAAT, CAVIN4, CCDC180, CDC14B, COL15A1, CORO2A, CTSV, CYLC2, ERCC6L2, ERP44, FANCC, FOXE1, GABBR2, GALNT12, GRIN3A, HABP4, HEMGN, HSD17B3, INVS, MIR23B, MIR24-1, MIR27B, MRPL50, MSANTD3, MSANTD3-TMEFF1, NANS, NCBP1, NR4A3, NUTM2G, PGAP4, PPP3R2, PRXL2C, PTCH1, RNF20, SEC61B, SLC35D2, SMC2, STX17, TBC1D2, TDRD7, TEX10, TGFBR1, TMEFF1, TMOD1, TRIM14, TRMO, TSTD2, XPA, ZNF189, ZNF367, ZNF510, ZNF782 1 0 0 0 0 0 1
ALDOC, BLTP2, CRYBA1, DHRS13, ERAL1, FAM222B, FLOT2, FOXN1, IFT20, KSR1, LGALS9, LYRM9, MIR144, MIR451A, MYO18A, NEK8, NLK, NOS2, NUFIP2, PHF12, PIGS, PIPOX, POLDIP2, PROCA1, RAB34, RPL23A, SARM1, SDF2, SEBOX, SEZ6, SLC13A2, SLC46A1, SPAG5, SUPT6H, TAOK1, TLCD1, TMEM199, TMEM97, TNFAIP1, TRAF4, UNC119, VTN, WSB1 0 0 1 0 0 0 1
ALG1 0 0 1 0 0 0 1
ALG6 0 1 0 0 0 0 1
ALG8 0 0 1 0 0 0 1
ALKBH8 0 0 1 0 0 0 1
ALOXE3 1 0 0 0 0 0 1
ALS2 1 0 0 0 0 0 1
ANK2 1 0 0 0 0 0 1
ANK3 0 1 0 0 0 0 1
ANKHD1, ANKHD1-EIF4EBP3, APBB3, CD14, CYSTM1, DND1, EIF4EBP3, HARS1, HARS2, HBEGF, IGIP, IK, NDUFA2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB@, PFDN1, PURA, SLC35A4, SLC4A9, SRA1, TMCO6, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, ZMAT2 1 0 0 0 0 0 1
ANO10 0 0 1 0 0 0 1
ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, MAL2, MED30, MRPL13, MTBP, MTSS1, NDUFB9, NSMCE2, NTAQ1, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 1
AP2M1, LOC123453202 0 0 1 0 0 0 1
AP2S1 1 0 0 0 0 0 1
AP4M1 1 0 0 0 0 0 1
AP4S1, COCH, FOXG1, G2E3, PRKD1, SCFD1, STRN3 1 0 0 0 0 0 1
APOA1 0 0 1 0 0 0 1
APOA5 0 0 1 0 0 0 1
APOB, LOC106560211 0 0 1 0 0 0 1
APOBR, ATP2A1, ATXN2L, BOLA2, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, NFATC2IP, NPIPB6, NUPR1, RABEP2, SGF29, SH2B1, SLX1B, SPNS1, SULT1A1, SULT1A2, SULT1A4, TUFM 0 1 0 0 0 0 1
APP 1 0 0 0 0 0 1
ARF3 0 1 0 0 0 0 1
ARFGAP1, BIRC7, CHRNA4, COL20A1, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SRMS, STMN3, YTHDF1 1 0 0 0 0 0 1
ARFGEF1, CSPP1 0 0 1 0 0 0 1
ARFGEF2 0 0 1 0 0 0 1
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
ARHGAP11B, CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
ARHGAP29 0 0 1 0 0 0 1
ARHGAP6 0 0 0 1 0 0 1
ARHGEF6 0 0 1 0 0 0 1
ARL13A, TRMT2B 0 0 1 0 0 0 1
ARPC1B 0 1 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, MED15, MRPL40, PI4KA, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
ASCC1 1 0 0 0 0 0 1
ASH1L 0 1 0 0 0 0 1
ASIC1 0 0 1 0 0 0 1
ASIC4, SPEG 0 0 1 0 0 0 1
ASPH, CA8, CHD7, CLVS1, NKAIN3, RAB2A 1 0 0 0 0 0 1
ASS1 1 0 0 0 0 0 1
ASTN2, BRINP1, C5, CDK5RAP2, CNTRL, DAB2IP, DELEC1, FBXW2, GSN, MEGF9, PAPPA, PHF19, PSMD5, RAB14, STOM, TLR4, TNC, TRAF1, TRIM32, TTLL11 0 0 1 0 0 0 1
ATG7, ATP2B2, BRK1, GHRL, GHRLOS, HRH1, IRAK2, PPARG, SEC13, SLC6A1, SLC6A11, SYN2, TAMM41, TATDN2, TIMP4, TSEN2, VGLL4, VHL 1 0 0 0 0 0 1
ATN1, LOC109461484 0 0 0 1 0 0 1
ATP13A3, CPN2, FAM43A, GP5, HES1, LRRC15, LSG1, OPA1, TMEM44 0 1 0 0 0 0 1
ATP1A2, LOC126805890 0 0 1 0 0 0 1
ATP2A2 0 1 0 0 0 0 1
ATP6AP2 0 0 1 0 0 0 1
ATP6V0A2 0 0 1 0 0 0 1
ATXN1, LOC108663993 0 0 0 1 0 0 1
ATXN7L3, UBTF 0 0 1 0 0 0 1
BAG3 1 0 0 0 0 0 1
BAG3, CACUL1, CASC2, DENND10, EIF3A, EMX2, EMX2OS, FAM204A, GRK5, INPP5F, KCNK18, MCMBP, NANOS1, PDZD8, PLPP4, PRDX3, PRLHR, RAB11FIP2, RGS10, SEC23IP, SFXN4, SLC18A2, TIAL1, VAX1 0 0 1 0 0 0 1
BAZ2B 0 1 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
BBS7 0 0 1 0 0 0 1
BCAP31 0 0 1 0 0 0 1
BCKDK 1 0 0 0 0 0 1
BCL11B 1 0 0 0 0 0 1
BCR, C22orf15, CHCHD10, DERL3, DRICH1, GNAZ, IGLC1, IGLL1, IGLL5, MIF, MMP11, RAB36, RGL4, RSPH14, SLC2A11, SMARCB1, VPREB3, ZNF70 0 0 1 0 0 0 1
BLK, C8orf74, CLDN23, CTSB, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, ERI1, FAM167A, FAM86B1, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, SPAG11A, SPAG11B, TNKS, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, XKR6, ZNF705B, ZNF705D, ZNF705G 1 0 0 0 0 0 1
BLNK 0 1 0 0 0 0 1
BMP2 1 0 0 0 0 0 1
BMP4 0 0 1 0 0 0 1
BMPR1A 0 1 0 0 0 0 1
BRAT1 0 0 1 0 0 0 1
BRCA2, LOC106721785 0 0 0 1 0 0 1
BRD4 0 0 1 0 0 0 1
BRPF1 0 1 0 0 0 0 1
BTD 0 0 0 1 0 0 1
C12orf4 1 0 0 0 0 0 1
C19orf12 0 0 0 1 0 0 1
C1S 0 0 1 0 0 0 1
C1orf105, PIGC 0 0 1 0 0 0 1
C5 0 0 0 1 0 0 1
C6orf120, DLL1, DYNLT2, ERMARD, FAM120B, PDCD2, PHF10, PSMB1, TBP, WDR27 1 0 0 0 0 0 1
C9orf47, CDK20, CKS2, CTSL, DIRAS2, GADD45G, NXNL2, S1PR3, SECISBP2, SEMA4D, SHC3, SPATA31C1, SPATA31C2, SPATA31E1, SPIN1, SYK 0 1 0 0 0 0 1
CABP4 1 0 0 0 0 0 1
CACNA1A, LOC108663985 0 0 0 1 0 0 1
CACNA1H 0 0 0 0 1 0 1
CADM3 0 0 1 0 0 0 1
CAMK2A 0 1 0 0 0 0 1
CAMTA1 0 1 0 0 0 0 1
CARD14 0 0 1 0 0 0 1
CARMIL2 0 1 0 0 0 0 1
CATIP, PNKD 0 0 1 0 0 0 1
CBL 0 1 0 0 0 0 1
CBS 1 0 0 0 0 0 1
CCDC107, RMRP 0 1 0 0 0 0 1
CCDC116, GGTLC2, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3C, SDF2L1, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 0 0 1 0 0 0 1
CCDC39, TTC14 0 0 1 0 0 0 1
CCDC88C 0 0 1 0 0 0 1
CCM2, LOC129998395 0 1 0 0 0 0 1
CCNF 0 0 1 0 0 0 1
CD36 1 0 0 0 0 0 1
CD3D 1 0 0 0 0 0 1
CD40LG 1 0 0 0 0 0 1
CD46 1 0 0 0 0 0 1
CD99L2 0 0 0 1 0 0 1
CDC42, LOC122056785 0 0 1 0 0 0 1
CDH23 1 0 0 0 0 0 1
CDK13, LOC129998292 1 0 0 0 0 0 1
CDK19 0 0 1 0 0 0 1
CDKL5, RS1 0 0 1 0 0 0 1
CDR2, EEF2K, HS3ST2, MOSMO, NPIPB4, NPIPB5, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 0 1
CDR2, EEF2K, MOSMO, NPIPB4, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 0 1
CDR2, EEF2K, MOSMO, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDT1 0 0 0 1 0 0 1
CEBPE 0 1 0 0 0 0 1
CEP63 0 0 0 0 1 0 1
CEP85L 0 0 1 0 0 0 1
CEP85L, LOC129997071 1 0 0 0 0 0 1
CERS1, GDF1 0 0 1 0 0 0 1
CERT1 0 0 1 0 0 0 1
CFAP52 0 0 1 0 0 0 1
CFAP96, UFSP2 0 1 0 0 0 0 1
CFTR, LOC111674463 0 0 0 0 1 0 1
CFTR, LOC111674467 0 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 0 1
CFTR, LOC113664106 1 0 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 0 1
CHCHD10 0 0 1 0 0 0 1
CHD1 0 0 1 0 0 0 1
CHD2, LOC126862230 0 0 1 0 0 0 1
CHD3, LOC126862484 0 0 1 0 0 0 1
CHD4 0 0 1 0 0 0 1
CHD5 0 0 1 0 0 0 1
CHD8, METTL3, OR10G3, RAB2B, SALL2, SUPT16H, TOX4 1 0 0 0 0 0 1
CHL1 0 0 1 0 0 0 1
CHRNA2 0 0 0 1 0 0 1
CHST14 0 0 1 0 0 0 1
CHST14, LOC130056851 0 0 1 0 0 0 1
CIBAR1 1 0 0 0 0 0 1
CILK1 0 0 1 0 0 0 1
CIMAP1C, COMMD4, CSPG4, IMP3, MAN2C1, NEIL1, PTPN9, SIN3A, SNUPN, SNX33 1 0 0 0 0 0 1
CIZ1, DNM1 0 0 1 0 0 0 1
CKAP2L, NT5DC4 1 0 0 0 0 0 1
CLCN5, LOC126863258 0 0 1 0 0 0 1
CLDN16 0 0 1 0 0 0 1
CLP1 1 0 0 0 0 0 1
CNGB1 0 1 0 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CNNM2 0 1 0 0 0 0 1
CNPY3, CNPY3-GNMT 1 0 0 0 0 0 1
CNTNAP2 0 1 0 0 0 0 1
COCH, LOC100506071 0 0 1 0 0 0 1
COL11A1, LOC126805814 0 0 0 1 0 0 1
COL13A1 1 0 0 0 0 0 1
COL18A1 0 0 0 1 0 0 1
COL1A1, LOC126862586 0 1 0 0 0 0 1
COL4A6 0 0 0 1 0 0 1
COL6A3 0 0 1 0 0 0 1
COL9A2 0 0 1 0 0 0 1
COMP 0 0 1 0 0 0 1
COQ6 0 0 1 0 0 0 1
COQ8A 0 0 1 0 0 0 1
CP 0 0 0 1 0 0 1
CPS1 0 1 0 0 0 0 1
CPT1C 0 0 0 1 0 0 1
CRB1 0 0 1 0 0 0 1
CRBN 1 0 0 0 0 0 1
CREB3L3 0 0 1 0 0 0 1
CRTAP 0 0 1 0 0 0 1
CRYAB 0 0 1 0 0 0 1
CRYBB2 0 0 1 0 0 0 1
CRYGD, LOC100507443 0 0 1 0 0 0 1
CSF2RA 0 0 0 0 1 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN7A, SCN9A, TTC21B, XIRP2 1 0 0 0 0 0 1
CTAG1A, IKBKG 1 0 0 0 0 0 1
CTNNB1, LOC126806658 1 0 0 0 0 0 1
CTNNB1, LOC126806659 0 1 0 0 0 0 1
CTNND2 1 0 0 0 0 0 1
CTR9 0 0 1 0 0 0 1
CUL3 1 0 0 0 0 0 1
CUX2 0 0 1 0 0 0 1
CXCR4 1 0 0 0 0 0 1
CYFIP1, GOLGA6L1, GOLGA6L6, NIPA1, NIPA2, OR4M2, OR4N4, POTEB, POTEB2, TUBGCP5 1 0 0 0 0 0 1
CYP11A1 0 0 0 0 1 0 1
CYP11B2, LOC106799834 0 1 0 0 0 0 1
CYP1B1, LOC128772254 1 0 0 0 0 0 1
CYP21A2 0 1 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 0 1
CYP7B1 1 0 0 0 0 0 1
DAAM1 0 0 0 1 0 0 1
DACT1 0 0 1 0 0 0 1
DAG1 0 0 0 1 0 0 1
DARS1 0 0 1 0 0 0 1
DARS2 0 0 0 0 1 0 1
DCC 0 0 1 0 0 0 1
DCTN1 0 0 1 0 0 0 1
DDHD2 0 0 1 0 0 0 1
DDOST 0 0 1 0 0 0 1
DDX6 0 0 1 0 0 0 1
DEGS1 1 0 0 0 0 0 1
DEPDC5, PRR14L 0 1 0 0 0 0 1
DIAPH2 0 0 0 1 0 0 1
DIP2B 0 0 1 0 0 0 1
DIP2C 0 0 1 0 0 0 1
DIS3L2 0 0 1 0 0 0 1
DLL1, LOC126859913 1 0 0 0 0 0 1
DNAH11 1 0 0 0 0 0 1
DNAH8 0 0 1 0 0 0 1
DNAH9 0 0 1 0 0 0 1
DNAI1 0 0 1 0 0 0 1
DNAJC7 0 0 1 0 0 0 1
DNM1, LOC113839516 0 1 0 0 0 0 1
DNMT1 0 1 0 0 0 0 1
DOCK2 0 0 1 0 0 0 1
DOCK3 0 0 1 0 0 0 1
DOCK6 0 0 1 0 0 0 1
DOCK7 0 1 0 0 0 0 1
DOK7 1 0 0 0 0 0 1
DPH1, LOC130059901 0 0 1 0 0 0 1
DRG1 0 0 1 0 0 0 1
DSG1 0 0 1 0 0 0 1
DSPP 0 0 1 0 0 0 1
DYM 1 0 0 0 0 0 1
DYRK1B 0 0 1 0 0 0 1
DYSF 0 0 1 0 0 0 1
EFNB1 0 1 0 0 0 0 1
EGR3 0 0 1 0 0 0 1
EIF2B1 0 0 1 0 0 0 1
EIF3F 1 0 0 0 0 0 1
EIF5A 0 0 1 0 0 0 1
EIF5B 0 0 1 0 0 0 1
ELP4, PAX6 0 0 1 0 0 0 1
EMD 0 1 0 0 0 0 1
EMD, FLNA, HCFC1, IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
ENG 1 0 0 0 0 0 1
ENPP1 0 0 1 0 0 0 1
EP300, LOC126863158 0 1 0 0 0 0 1
EPCAM 1 0 0 0 0 0 1
EPCAM, MSH2 1 0 0 0 0 0 1
EPHB2 0 0 0 1 0 0 1
ERCC4 0 0 1 0 0 0 1
ERCC6 1 0 0 0 0 0 1
ERF 0 0 1 0 0 0 1
ESPN 1 0 0 0 0 0 1
EXOSC3 1 0 0 0 0 0 1
EXT2 1 0 0 0 0 0 1
EYA4 0 1 0 0 0 0 1
EYS 1 0 0 0 0 0 1
EYS, PHF3 0 1 0 0 0 0 1
FA2H 0 0 1 0 0 0 1
FANCA 1 0 0 0 0 0 1
FANCB 0 0 1 0 0 0 1
FANCC 1 0 0 0 0 0 1
FANCG 1 0 0 0 0 0 1
FANCM 0 0 0 0 1 0 1
FAR1 0 1 0 0 0 0 1
FAS 0 1 0 0 0 0 1
FBLN5 0 0 0 0 1 0 1
FBN1, LOC126862124 0 0 1 0 0 0 1
FBXL19 0 0 1 0 0 0 1
FBXO11, LOC100506235 0 1 0 0 0 0 1
FBXO38 0 0 1 0 0 0 1
FBXW11 0 1 0 0 0 0 1
FGF12 1 0 0 0 0 0 1
FGF14, ITGBL1 0 0 1 0 0 0 1
FGF8 0 0 1 0 0 0 1
FHL1 0 1 0 0 0 0 1
FKBP10 0 0 1 0 0 0 1
FKBP14 1 0 0 0 0 0 1
FKRP 1 0 0 0 0 0 1
FKTN 0 0 1 0 0 0 1
FLG 0 0 1 0 0 0 1
FLG, FLG2 0 0 0 0 1 0 1
FLNB 0 0 1 0 0 0 1
FLRT2, GALC 1 0 0 0 0 0 1
FLT4 0 1 0 0 0 0 1
FN1 0 0 1 0 0 0 1
FOXL2 1 0 0 0 0 0 1
FOXP1, LOC126806714 0 1 0 0 0 0 1
FOXP2 0 1 0 0 0 0 1
FOXP4 1 0 0 0 0 0 1
FOXRED1 0 0 1 0 0 0 1
FRMD7 0 1 0 0 0 0 1
FRRS1L 1 0 0 0 0 0 1
FRYL 1 0 0 0 0 0 1
FSCN2 0 0 1 0 0 0 1
FUCA1 1 0 0 0 0 0 1
FZD4, PRSS23 1 0 0 0 0 0 1
G6PC3, LOC130060959 0 0 1 0 0 0 1
GABRA2 0 0 1 0 0 0 1
GABRD 0 0 1 0 0 0 1
GALNT2 1 0 0 0 0 0 1
GALT 1 0 0 0 0 0 1
GATAD1, PEX1 0 0 0 1 0 0 1
GBP5 0 0 1 0 0 0 1
GDAP1 0 0 1 0 0 0 1
GDF2 0 0 1 0 0 0 1
GDF3 0 1 0 0 0 0 1
GDF6 0 0 1 0 0 0 1
GEMIN4 0 0 1 0 0 0 1
GFAP 0 0 1 0 0 0 1
GHR 0 0 1 0 0 0 1
GHSR 0 0 1 0 0 0 1
GIGYF1 0 1 0 0 0 0 1
GJA3 0 0 1 0 0 0 1
GJA8 0 0 1 0 0 0 1
GJB6 1 0 0 0 0 0 1
GLB1 0 0 1 0 0 0 1
GLDN 0 1 0 0 0 0 1
GLRA1 1 0 0 0 0 0 1
GLUD1 0 0 1 0 0 0 1
GM2A 0 1 0 0 0 0 1
GNAQ 0 1 0 0 0 0 1
GNB5 1 0 0 0 0 0 1
GNE 0 1 0 0 0 0 1
GNPTAB 0 0 1 0 0 0 1
GNRHR 1 0 0 0 0 0 1
GNS 0 0 1 0 0 0 1
GPD1 0 1 0 0 0 0 1
GPD1L 0 0 1 0 0 0 1
GPR143 1 0 0 0 0 0 1
GREB1L 0 0 1 0 0 0 1
GREB1L, LOC101927521 0 0 1 0 0 0 1
GRIA4, LOC129390350 0 0 1 0 0 0 1
GRIK2 0 0 1 0 0 0 1
GRIN2D, LOC130064857 0 1 0 0 0 0 1
GRK5, GRK5-IT1, LOC130004833 0 0 1 0 0 0 1
GRN 0 0 1 0 0 0 1
GUCY1A1 0 0 1 0 0 0 1
H3-3B 0 0 1 0 0 0 1
HACE1 0 0 1 0 0 0 1
HAVCR2 0 1 0 0 0 0 1
HBA1, HBA2, HBM, HBQ1 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HCN4 1 0 0 0 0 0 1
HDAC4 0 0 1 0 0 0 1
HIVEP3 0 0 1 0 0 0 1
HK1 0 0 1 0 0 0 1
HMBS 0 0 1 0 0 0 1
HMGB1 0 1 0 0 0 0 1
HNF1B 0 0 1 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 0 1
HPD 0 0 1 0 0 0 1
HPDL 0 0 1 0 0 0 1
HPS1, MIR4685 1 0 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 1
HSALR1, PIEZO1 0 0 1 0 0 0 1
HSD17B4 0 1 0 0 0 0 1
HSPB8 0 0 1 0 0 0 1
HSPD1 0 0 1 0 0 0 1
HTT 0 0 1 0 0 0 1
HTT, LOC109461479, LOC129929027 0 0 0 1 0 0 1
IDH3G 0 0 1 0 0 0 1
IDUA 0 0 1 0 0 0 1
IFNGR1 0 0 1 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IGF1R, IRAIN 0 0 1 0 0 0 1
IGF1R, PGPEP1L 0 0 1 0 0 0 1
IKBKG 0 1 0 0 0 0 1
IKZF1 0 1 0 0 0 0 1
IL21R 0 1 0 0 0 0 1
IL2RG 1 0 0 0 0 0 1
IMPDH1 0 0 1 0 0 0 1
IMPG1 0 1 0 0 0 0 1
INSL6, JAK2 1 0 0 0 0 0 1
INSR 0 0 1 0 0 0 1
IQSEC2, KDM5C 1 0 0 0 0 0 1
IRAK1, MECP2 1 0 0 0 0 0 1
IRAK1, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TMEM187 1 0 0 0 0 0 1
IRF6 0 0 1 0 0 0 1
IRF8 0 0 1 0 0 0 1
ITGA7 0 0 1 0 0 0 1
ITGB4 0 0 0 1 0 0 1
ITIH6 0 0 0 0 1 0 1
ITM2B, LOC130009751 0 0 1 0 0 0 1
ITSN1 0 1 0 0 0 0 1
JAK1, LOC129930680 0 0 1 0 0 0 1
JAK3 0 0 1 0 0 0 1
JMJD7-PLA2G4B, PLA2G4B 0 0 1 0 0 0 1
JMJD8, STUB1 0 1 0 0 0 0 1
JPH3 0 0 1 0 0 0 1
KALRN 0 0 1 0 0 0 1
KAT8 0 1 0 0 0 0 1
KCNA6 0 1 0 0 0 0 1
KCND3 0 1 0 0 0 0 1
KCNH5 1 0 0 0 0 0 1
KCNH8, SATB1 1 0 0 0 0 0 1
KCNJ10 0 0 1 0 0 0 1
KCNJ11 0 0 1 0 0 0 1
KCNK4, KCNK4-CATSPERZ 0 1 0 0 0 0 1
KCNN2, LOC101927078 0 1 0 0 0 0 1
KCNV2 0 0 1 0 0 0 1
KDM3B 0 0 1 0 0 0 1
KDM5A, LOC126861410 1 0 0 0 0 0 1
KDM5B 0 0 1 0 0 0 1
KEL 1 0 0 0 0 0 1
KIF21B 0 0 1 0 0 0 1
KIF3B 0 0 0 1 0 0 1
KIF5A 0 0 1 0 0 0 1
KIF7 0 0 1 0 0 0 1
KIRREL2 0 0 1 0 0 0 1
KIRREL2, NPHS1 0 0 1 0 0 0 1
KIRREL3 0 0 1 0 0 0 1
KLF7 0 1 0 0 0 0 1
KLHL15 0 0 1 0 0 0 1
KMT5B 0 0 1 0 0 0 1
KPTN 0 0 1 0 0 0 1
KRT5 0 0 1 0 0 0 1
KSR2 0 0 1 0 0 0 1
LAMA2 1 0 0 0 0 0 1
LAMA5 0 0 1 0 0 0 1
LAMC3 1 0 0 0 0 0 1
LAMP2 0 0 1 0 0 0 1
LARS1 1 0 0 0 0 0 1
LARS2 0 0 1 0 0 0 1
LEPR 0 1 0 0 0 0 1
LFNG 0 0 1 0 0 0 1
LIG4 0 0 1 0 0 0 1
LINS1 0 0 1 0 0 0 1
LIPA 1 0 0 0 0 0 1
LIPC 0 0 1 0 0 0 1
LITAF 1 0 0 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 0 1
LMNA, LOC126805877 0 1 0 0 0 0 1
LMNB1 1 0 0 0 0 0 1
LOC100507346, PTCH1 0 1 0 0 0 0 1
LOC101927055, TTN 0 0 1 0 0 0 1
LOC107652445, SHOX 0 1 0 0 0 0 1
LOC108663996, TBP 1 0 0 0 0 0 1
LOC109611589, RUNX2 0 1 0 0 0 0 1
LOC110008580, ZIC2 0 0 1 0 0 0 1
LOC121740638, TFAP2A 0 1 0 0 0 0 1
LOC122152296, USH2A 1 0 0 0 0 0 1
LOC125146351, PLIN1 0 0 1 0 0 0 1
LOC126806373, NEB 0 0 1 0 0 0 1
LOC126806421, TTN 0 1 0 0 0 0 1
LOC126806426, TTN 0 1 0 0 0 0 1
LOC126806878, TBL1XR1 0 1 0 0 0 0 1
LOC126806913, OPA1 0 0 1 0 0 0 1
LOC126860392, RP1 0 1 0 0 0 0 1
LOC126860395, PLAG1 0 0 1 0 0 0 1
LOC126860797, NSMF 0 0 1 0 0 0 1
LOC126860990, MINPP1 0 1 0 0 0 0 1
LOC126861339, SDHD 1 0 0 0 0 0 1
LOC126861440, NECAP1 0 0 1 0 0 0 1
LOC126862123, SLC12A1 0 0 1 0 0 0 1
LOC126862264, MEFV 1 0 0 0 0 0 1
LOC126862481, POLR2A 0 1 0 0 0 0 1
LOC126862482, POLR2A 0 0 1 0 0 0 1
LOC126862757, TCF4 0 0 1 0 0 0 1
LOC126862983, MGME1 0 0 1 0 0 0 1
LOC126863188, SHANK3 0 0 1 0 0 0 1
LOC126863275, MED12 0 0 1 0 0 0 1
LOC129930253, ZMPSTE24 1 0 0 0 0 0 1
LOC129930446, MMACHC 1 0 0 0 0 0 1
LOC129934069, SPR 0 0 1 0 0 0 1
LOC129992876, SLC39A8 0 1 0 0 0 0 1
LOC129995144, THG1L 0 0 1 0 0 0 1
LOC130004408, TCTN3 0 1 0 0 0 0 1
LOC130004618, TRIM8 0 0 1 0 0 0 1
LOC130004775, NHLRC2 0 0 1 0 0 0 1
LOC130007006, ROBO3 0 1 0 0 0 0 1
LOC130009585, UFM1 0 1 0 0 0 0 1
LOC130009921, MYCBP2 0 0 1 0 0 0 1
LOC130057954, UNC45A 1 0 0 0 0 0 1
LOC130058173, MAPK8IP3 0 1 0 0 0 0 1
LOC130058478, SOCS1 0 0 1 0 0 0 1
LOC130059818, SPG7 0 0 1 0 0 0 1
LOC130059847, TUBB3 0 1 0 0 0 0 1
LOC130060903, NAGLU 1 0 0 0 0 0 1
LOC130061900, SGSH 1 0 0 0 0 0 1
LOC130064279, SDHAF1 0 1 0 0 0 0 1
LOX, SRFBP1 0 0 1 0 0 0 1
LRP2 0 0 1 0 0 0 1
LRP5 0 1 0 0 0 0 1
LRP6 0 0 1 0 0 0 1
LRRC37A2, NSF 0 0 1 0 0 0 1
LRRK2 0 0 1 0 0 0 1
LRSAM1 0 1 0 0 0 0 1
LTN1 0 0 1 0 0 0 1
MAGT1 1 0 0 0 0 0 1
MAK 0 0 1 0 0 0 1
MAMLD1 0 0 0 0 1 0 1
MAN1B1 1 0 0 0 0 0 1
MAN2B1 1 0 0 0 0 0 1
MAP1B 0 1 0 0 0 0 1
MAP3K1 0 0 0 1 0 0 1
MAP3K15 0 0 1 0 0 0 1
MAP3K7 0 0 1 0 0 0 1
MAPKAPK2 0 0 1 0 0 0 1
MARCHF10, MRC2, TANC2 0 0 1 0 0 0 1
MASP1 0 0 1 0 0 0 1
MAST1 0 0 1 0 0 0 1
MATR3 1 0 0 0 0 0 1
MBD5 0 0 1 0 0 0 1
MCM9 1 0 0 0 0 0 1
MCPH1 0 1 0 0 0 0 1
MDH2 0 0 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 0 1
MED12L, P2RY12 0 0 1 0 0 0 1
MED13 0 0 1 0 0 0 1
MED17 0 0 1 0 0 0 1
MED25 0 0 0 1 0 0 1
MEIS2 1 0 0 0 0 0 1
MESP2 1 0 0 0 0 0 1
METTL5 0 1 0 0 0 0 1
MFSD8 1 0 0 0 0 0 1
MILR1, POLG2 0 0 1 0 0 0 1
MIP 0 0 1 0 0 0 1
MIR5004, SYNGAP1 0 0 1 0 0 0 1
MLC1 1 0 0 0 0 0 1
MLH3 0 0 0 1 0 0 1
MMP13 0 0 1 0 0 0 1
MMUT 1 0 0 0 0 0 1
MOCS2 1 0 0 0 0 0 1
MPO 0 1 0 0 0 0 1
MPV17, TRIM54, UCN 0 1 0 0 0 0 1
MSN 0 0 1 0 0 0 1
MSX1 0 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 0 1
MT-ND1 0 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 1
MT-ND6 1 0 0 0 0 0 1
MT-TK 0 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1
MT-TV 0 0 1 0 0 0 1
MT-TW 0 1 0 0 0 0 1
MTM1 0 0 1 0 0 0 1
MYBPC1 0 1 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 1
MYH14 0 0 1 0 0 0 1
MYH3 0 0 1 0 0 0 1
MYH6 0 0 1 0 0 0 1
MYH8, MYHAS 0 0 1 0 0 0 1
MYO1E 0 0 1 0 0 0 1
MYO5A 0 0 1 0 0 0 1
MYO6 0 1 0 0 0 0 1
MYRF 1 0 0 0 0 0 1
MYT1L, PXDN 0 0 1 0 0 0 1
NAGLU 1 0 0 0 0 0 1
NAPB 1 0 0 0 0 0 1
NCAPH2, SCO2 1 0 0 0 0 0 1
NCKAP1 0 0 1 0 0 0 1
NCSTN 1 0 0 0 0 0 1
NDP 0 1 0 0 0 0 1
NDRG1 1 0 0 0 0 0 1
NEB 0 0 0 0 1 0 1
NEB, RIF1 1 0 0 0 0 0 1
NEDD4L 0 1 0 0 0 0 1
NEFH 0 0 1 0 0 0 1
NEK9 0 0 0 1 0 0 1
NEUROD2 0 0 1 0 0 0 1
NFKB2 0 1 0 0 0 0 1
NGLY1 0 0 1 0 0 0 1
NHLRC1 0 0 0 1 0 0 1
NIPA1 0 0 0 0 1 0 1
NIPAL3 0 0 1 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 1
NLGN4X 0 0 1 0 0 0 1
NLRP1 0 0 1 0 0 0 1
NOD2 0 0 1 0 0 0 1
NONO 0 1 0 0 0 0 1
NOTCH1 0 0 1 0 0 0 1
NPHP1 0 0 1 0 0 0 1
NR0B1 1 0 0 0 0 0 1
NR0B2, NUDC 0 0 1 0 0 0 1
NR5A1 0 1 0 0 0 0 1
NRDE2 0 0 1 0 0 0 1
NTRK2 0 0 1 0 0 0 1
OAS1 0 0 1 0 0 0 1
OGT 0 0 1 0 0 0 1
OTOG 1 0 0 0 0 0 1
OTX2 0 0 1 0 0 0 1
OXT 0 0 1 0 0 0 1
PACS1 1 0 0 0 0 0 1
PACS2 1 0 0 0 0 0 1
PAK3 0 0 0 1 0 0 1
PASK 0 0 1 0 0 0 1
PAX9 0 1 0 0 0 0 1
PCCA 1 0 0 0 0 0 1
PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@ 0 0 1 0 0 0 1
PDCD10 0 0 0 1 0 0 1
PDE11A 0 0 1 0 0 0 1
PDE4D 0 1 0 0 0 0 1
PDGFB 0 1 0 0 0 0 1
PDGFRA 0 0 1 0 0 0 1
PEX5 0 0 1 0 0 0 1
PEX6 0 0 1 0 0 0 1
PGK1 0 0 1 0 0 0 1
PGM1 0 1 0 0 0 0 1
PHACTR1 0 0 0 1 0 0 1
PHEX, PTCHD1 0 1 0 0 0 0 1
PHGDH 1 0 0 0 0 0 1
PHKA1 0 0 1 0 0 0 1
PHKB 0 0 1 0 0 0 1
PIEZO2 0 1 0 0 0 0 1
PIGG 0 0 1 0 0 0 1
PIK3CD 0 0 1 0 0 0 1
PITX1 0 1 0 0 0 0 1
PKD2 0 0 1 0 0 0 1
PKLR 1 0 0 0 0 0 1
PLCG2 0 0 1 0 0 0 1
PLD3 0 0 1 0 0 0 1
PLEKHG2 0 0 1 0 0 0 1
PLEKHG4B 0 0 1 0 0 0 1
PLP1, RAB9B 0 0 1 0 0 0 1
PLXNA3 0 0 1 0 0 0 1
PLXNB3 0 0 1 0 0 0 1
PMP22 0 0 1 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 0 0 1
PNPLA8 0 0 1 0 0 0 1
POLK 0 0 0 1 0 0 1
POLR1C 0 0 1 0 0 0 1
POLR1C, TMEM63B 1 0 0 0 0 0 1
POT1 0 0 0 1 0 0 1
POU1F1 0 0 1 0 0 0 1
POU3F4 0 1 0 0 0 0 1
PPARG 0 0 1 0 0 0 1
PPFIA3 0 1 0 0 0 0 1
PPP2R5D 1 0 0 0 0 0 1
PQBP1 0 0 1 0 0 0 1
PRDM12 1 0 0 0 0 0 1
PRDX4 0 0 1 0 0 0 1
PREPL 0 1 0 0 0 0 1
PRF1 1 0 0 0 0 0 1
PRG4 0 1 0 0 0 0 1
PRICKLE1 0 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
PRKAR1A 0 1 0 0 0 0 1
PRKCSH 0 0 0 1 0 0 1
PRKN 1 0 0 0 0 0 1
PRMT7 0 1 0 0 0 0 1
PRNP 0 0 0 1 0 0 1
PROKR2 0 1 0 0 0 0 1
PROS1 0 0 1 0 0 0 1
PRPF6 0 0 1 0 0 0 1
PRPS1 0 0 1 0 0 0 1
PRR12 0 1 0 0 0 0 1
PRSS1, TRB 0 0 1 0 0 0 1
PRUNE1 1 0 0 0 0 0 1
PSEN1 0 1 0 0 0 0 1
PTH1R 0 0 1 0 0 0 1
PTPN23 0 0 1 0 0 0 1
PTPN4 0 0 1 0 0 0 1
PTPRZ1 0 0 1 0 0 0 1
PUM1 0 0 1 0 1 0 1
PUS7 1 0 0 0 0 0 1
PYGL 0 0 1 0 0 0 1
RAB11A 0 1 0 0 0 0 1
RAB3GAP2 0 0 1 0 0 0 1
RAD21 0 0 1 0 0 0 1
RAD51 1 0 0 0 0 0 1
RAD51D 0 0 1 0 0 0 1
RAPGEF2 0 0 1 0 0 0 1
RASGRP1 0 0 1 0 0 0 1
RB1 0 0 1 0 0 0 1
RBM10 0 1 0 0 0 0 1
RC3H1 0 0 1 0 0 0 1
RECQL 0 0 0 1 0 0 1
REEP1 0 0 1 0 0 0 1
RELA 0 0 1 0 0 0 1
RFX3 0 1 0 0 0 0 1
RFX7 0 0 1 0 0 0 1
RGR 0 1 0 0 0 0 1
RHEB 0 0 1 0 0 0 1
RIMS1 0 0 1 0 0 0 1
RIPK4 0 1 0 0 0 0 1
RIT1 0 1 0 0 0 0 1
RMRP 0 0 1 0 0 0 1
RNASEH2B 1 0 0 0 0 0 1
RNASEL 0 0 1 0 0 0 1
RNASET2 1 0 0 0 0 0 1
RNF2 0 0 1 0 0 0 1
RP1 1 0 0 0 0 0 1
RP1L1 0 0 1 0 0 0 1
RPIA 0 0 1 0 0 0 1
RPS23 0 0 1 0 0 0 1
RRAS2 0 0 1 0 0 0 1
RS1 1 0 0 0 0 0 1
RSRC1 0 0 1 0 0 0 1
SAMD9L 0 1 0 0 0 0 1
SBF2 0 1 0 0 0 0 1
SCN11A 1 0 0 0 0 0 1
SDHC 0 1 0 0 0 0 1
SDHD 0 1 0 0 0 0 1
SEMA3A 0 0 1 0 0 0 1
SEMA3B 0 0 1 0 0 0 1
SERPINI1 0 0 1 0 0 0 1
SETD5 1 0 0 0 0 0 1
SF3B4 1 0 0 0 0 0 1
SFXN3 0 0 1 0 0 0 1
SGCA 1 0 0 0 0 0 1
SH2B1 0 0 1 0 0 0 1
SH3PXD2B 1 0 0 0 0 0 1
SHANK1 0 0 1 0 0 0 1
SHANK2 1 0 0 0 0 0 1
SHOC2 0 1 0 0 0 0 1
SHROOM4 0 0 0 1 0 0 1
SI 0 0 1 0 0 0 1
SIL1 0 0 1 0 0 0 1
SIN3A 0 0 1 0 0 0 1
SIX1 0 0 1 0 0 0 1
SIX3 0 0 1 0 0 0 1
SLC12A6 0 0 1 0 0 0 1
SLC13A5 0 0 1 0 0 0 1
SLC16A2 0 1 0 0 0 0 1
SLC19A2 0 1 0 0 0 0 1
SLC19A3 1 0 0 0 0 0 1
SLC20A2 1 0 0 0 0 0 1
SLC22A12 0 0 1 0 0 0 1
SLC25A12 0 1 0 0 0 0 1
SLC25A13 0 1 0 0 0 0 1
SLC25A43, SLC25A5, STEEP1 0 1 0 0 0 0 1
SLC26A6 0 0 1 0 0 0 1
SLC26A7 0 0 1 0 0 0 1
SLC2A2 1 0 0 0 0 0 1
SLC39A4 0 0 1 0 0 0 1
SLC39A5 0 1 0 0 0 0 1
SLC44A1 1 0 0 0 0 0 1
SLC4A1 0 1 0 0 0 0 1
SLC5A2 0 0 1 0 0 0 1
SLC7A7 1 0 0 0 0 0 1
SLITRK2 0 0 1 0 0 0 1
SMARCAD1 1 0 0 0 0 0 1
SMARCB1 0 1 0 0 0 0 1
SMCHD1 1 0 0 0 0 0 1
SMCR8 0 0 1 0 0 0 1
SMPX 0 1 0 0 0 0 1
SNX14, SYNCRIP 0 1 0 0 0 0 1
SOS2 0 0 1 0 0 0 1
SP9 1 0 0 0 0 0 1
SPART 1 0 0 0 0 0 1
SPOP 0 1 0 0 0 0 1
SPRED1 0 1 0 0 0 0 1
SPTB 0 0 1 0 0 0 1
SPTLC1 0 0 1 0 0 0 1
SSBP1 1 0 0 0 0 0 1
STAG1 0 0 1 0 0 0 1
STAG2 0 0 1 0 0 0 1
STIL 0 0 1 0 0 0 1
STT3A 0 0 1 0 0 0 1
STUB1 0 1 0 0 0 0 1
SVBP 0 1 0 0 0 0 1
SYNCRIP 0 1 0 0 0 0 1
SYP 0 0 1 0 0 0 1
SYT1 0 1 0 0 0 0 1
SYT2 0 0 1 0 0 0 1
TAF1 0 1 0 0 0 0 1
TBC1D20 0 0 1 0 0 0 1
TBCEL-TECTA, TECTA 0 0 0 1 0 0 1
TBCK 1 0 0 0 0 0 1
TBK1 0 0 1 0 0 0 1
TBX1 1 0 0 0 0 0 1
TBX4 0 0 1 0 0 0 1
TCAP 0 0 1 0 0 0 1
TCIRG1 1 0 0 0 0 0 1
TCOF1 1 0 0 0 0 0 1
TCTN3 0 0 1 0 0 0 1
TFAP2B 0 1 0 0 0 0 1
TFE3 0 1 0 0 0 0 1
TGFB3 0 0 1 0 0 0 1
TGFBI 1 0 0 0 0 0 1
TGFBR1 0 1 0 0 0 0 1
TGM5 0 0 1 0 0 0 1
TGM6 0 0 1 0 0 0 1
THAP1 0 1 0 0 0 0 1
THOC6 0 0 1 0 0 0 1
THSD1 0 0 1 0 0 0 1
TIMM8A 0 1 0 0 0 0 1
TMEM94 0 0 1 0 0 0 1
TMLHE 0 0 1 0 0 0 1
TMPRSS15 0 0 1 0 0 0 1
TMTC3 0 1 0 0 0 0 1
TNC 0 0 1 0 0 0 1
TNF 0 0 1 0 0 0 1
TNFRSF11A 0 0 1 0 0 0 1
TNNI2 0 0 1 0 0 0 1
TNNT3 0 0 1 0 0 0 1
TNPO3 0 0 1 0 0 0 1
TNRC6B 1 0 0 0 0 0 1
TNXB 0 0 1 0 0 0 1
TOPORS 0 1 0 0 0 0 1
TOR1A 0 1 0 0 0 0 1
TPM1 0 0 1 0 0 0 1
TPM2 1 0 0 0 0 0 1
TPP1 0 0 1 0 0 0 1
TRAF7 0 0 1 0 0 0 1
TRIM8 0 0 1 0 0 0 1
TRMT10A 0 0 1 0 0 0 1
TRPM1 0 1 0 0 0 0 1
TSEN15 0 1 0 0 0 0 1
TSHB 0 0 1 0 0 0 1
TSPAN12 0 1 0 0 0 0 1
TTI2 0 0 1 0 0 0 1
TTR 0 1 0 0 0 0 1
TUBA1B 0 0 1 0 0 0 1
TUBB 0 0 1 0 0 0 1
TUBB1 0 0 1 0 0 0 1
TUBB3 0 1 0 0 0 0 1
TUBGCP4 0 1 0 0 0 0 1
TUSC3 1 0 0 0 0 0 1
TWIST1 0 0 1 0 0 0 1
TWNK 0 1 0 0 0 0 1
TYR 1 0 0 0 0 0 1
UBA2 1 0 0 0 0 0 1
UBR1 0 0 0 1 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 0 0 1
UNC13C 0 0 1 0 0 0 1
UNC45A 1 0 0 0 0 0 1
URB2 0 0 1 0 0 0 1
UROD 1 0 0 0 0 0 1
USP7 0 0 1 0 0 0 1
VCP 0 1 0 0 0 0 1
VLDLR 0 0 1 0 0 0 1
VPS11 0 0 1 0 0 0 1
VPS13C 1 0 0 0 0 0 1
VPS13D 0 0 1 0 0 0 1
VPS16 0 0 1 0 0 0 1
WASF1 1 0 0 0 0 0 1
WASHC4 0 0 1 0 0 0 1
WASHC5 0 0 1 0 0 0 1
WNT1 0 0 1 0 0 0 1
WNT10B 0 0 1 0 0 0 1
WT1 0 0 1 0 0 0 1
XIAP 1 0 0 0 0 0 1
XPR1 0 0 1 0 0 0 1
YAP1 0 1 0 0 0 0 1
YWHAE 0 1 0 0 0 0 1
YY1 0 1 0 0 0 0 1
ZAP70 0 0 0 1 0 0 1
ZC4H2 0 0 1 0 0 0 1
ZFPM2 0 0 1 0 0 0 1
ZFYVE26 0 0 1 0 0 0 1
ZIC3 0 0 0 0 1 0 1
ZMPSTE24 1 0 0 0 0 0 1
ZMYM2 0 1 0 0 0 0 1
ZMYND8 0 0 1 0 0 0 1
ZNF335 0 0 1 0 0 0 1
ZNF711 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 1762
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign established risk allele total
Cystic fibrosis 168 103 77 1 3 0 352
Familial cancer of breast 70 26 74 11 5 0 186
Landau-Kleffner syndrome 2 88 9 1 0 0 100
Intellectual disability 34 43 5 0 0 0 82
Breast-ovarian cancer, familial, susceptibility to, 1 51 10 10 3 3 0 77
Intellectual disability, autosomal dominant 6 19 49 7 0 0 0 75
Hypercholesterolemia, familial, 1 26 22 12 0 1 0 61
Neurodevelopmental disorder 3 17 37 2 1 0 60
Rett syndrome, congenital variant 45 15 0 0 0 0 60
Breast-ovarian cancer, familial, susceptibility to, 2 31 7 17 1 1 0 57
Intellectual developmental disorder 62 43 3 2 0 0 0 48
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 19 25 3 0 0 0 47
Severe myoclonic epilepsy in infancy 26 13 7 0 0 0 46
Neurofibromatosis, type 1 24 12 4 0 0 0 40
Ververi-Brady syndrome 20 13 2 0 0 0 35
Breast carcinoma 5 2 15 8 4 0 34
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 17 13 4 0 0 0 34
GRID1-associated neurodevelopmental disorder 1 0 31 0 0 0 32
Congenital anomaly of kidney and urinary tract 5 5 16 3 1 0 30
Developmental and epileptic encephalopathy, 5 2 14 10 3 1 0 30
Generalized epilepsy with febrile seizures plus, type 2 8 8 12 1 1 0 30
Developmental and epileptic encephalopathy, 13 3 9 14 0 0 0 26
Adrenoleukodystrophy 13 10 2 0 0 0 25
Early infantile epileptic encephalopathy with suppression bursts 1 18 6 0 0 0 25
Developmental and epileptic encephalopathy, 4 13 5 6 0 0 0 24
Developmental and epileptic encephalopathy, 42 3 7 12 1 1 0 24
Global developmental delay with or without impaired intellectual development 6 11 7 0 0 0 24
Developmental and epileptic encephalopathy, 11 5 5 13 0 0 0 23
Rett syndrome 18 0 2 1 0 0 21
Severe early-childhood-onset retinal dystrophy 12 5 2 0 0 2 21
Developmental and epileptic encephalopathy, 7 8 12 0 0 0 0 20
Intellectual disability, autosomal dominant 13 0 3 15 2 0 0 20
Malignant hyperthermia, susceptibility to, 1 6 3 9 1 1 0 20
Marfan syndrome 6 7 6 1 0 0 20
Neurodevelopmental delay 0 13 7 0 0 0 20
Tuberous sclerosis 2 7 5 6 2 0 0 20
Developmental and epileptic encephalopathy 94 3 5 7 4 0 0 19
Developmental and epileptic encephalopathy, 2 11 6 2 0 0 0 19
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 18 1 0 0 0 19
Hypercholesterolemia, autosomal dominant, type B 1 2 15 1 0 0 19
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 5 8 5 0 0 0 18
Hereditary spastic paraplegia 49 2 7 7 0 1 0 17
Intellectual disability, autosomal dominant 5 7 5 5 0 0 0 17
Lynch syndrome 5 8 5 4 0 0 0 17
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 4 7 6 0 0 0 17
Developmental and epileptic encephalopathy, 62 0 12 4 0 0 0 16
Epilepsy, familial focal, with variable foci 3 5 7 4 0 0 0 16
Li-Fraumeni syndrome 1 8 2 5 0 1 0 16
Polycystic kidney disease, adult type 5 4 6 1 0 0 16
KBG syndrome 10 4 1 0 0 0 15
Brugada syndrome 1 2 3 7 0 2 0 14
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2 2 9 1 0 0 14
Coffin-Siris syndrome 1 4 7 3 0 0 0 14
Developmental and epileptic encephalopathy, 9 2 5 7 0 0 0 14
Dilated cardiomyopathy 1G 4 7 3 0 0 0 14
Gorlin syndrome 5 7 2 0 0 0 14
Intellectual disability, autosomal dominant 30 6 8 0 0 0 0 14
Lynch syndrome 4 4 2 8 0 0 0 14
Myoclonic-astatic epilepsy 1 7 6 0 0 0 14
See cases 9 2 3 0 0 0 14
Cohen syndrome 4 2 5 2 0 0 13
Epilepsy, familial focal, with variable foci 1 5 5 2 1 0 0 13
Hypertrophic cardiomyopathy 4 9 1 3 0 0 0 13
Kabuki syndrome 1 2 2 5 3 1 0 13
Lissencephaly due to TUBA1A mutation 3 6 4 0 0 0 13
Usher syndrome type 2A 8 3 2 0 0 0 13
Breast-ovarian cancer, familial, susceptibility to, 3 5 1 5 1 0 0 12
Developmental and epileptic encephalopathy, 26 5 2 5 0 0 0 12
Distal 16p11.2 microdeletion syndrome 10 2 0 0 0 0 12
Global developmental delay; Seizure; Intellectual disability 1 9 1 0 1 0 12
Intellectual disability, X-linked 102 3 5 4 0 0 0 12
Long QT syndrome 1 4 5 2 1 0 0 12
Lynch syndrome 1 6 2 2 1 1 0 12
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 11 1 0 0 0 12
Dilated cardiomyopathy 1S 2 2 6 0 1 0 11
Duchenne muscular dystrophy 2 3 5 0 1 0 11
Encephalopathy due to GLUT1 deficiency 3 7 1 0 0 0 11
Familial adenomatous polyposis 1 6 2 3 0 0 0 11
Kleefstra syndrome 2 2 2 7 0 0 0 11
Nicolaides-Baraitser syndrome 2 2 4 3 0 0 11
Retinitis pigmentosa 39 7 3 1 0 0 0 11
Seizure; Intellectual disability 1 8 2 0 0 0 11
Snijders Blok-Campeau syndrome 1 3 7 0 0 0 11
Tuberous sclerosis 1 6 5 0 0 0 0 11
Alpha thalassemia-X-linked intellectual disability syndrome 3 2 2 2 1 0 10
Aortic aneurysm, familial thoracic 4 0 1 7 2 0 0 10
Arrhythmogenic right ventricular dysplasia 8 3 0 5 2 0 0 10
Breast-ovarian cancer, familial, susceptibility to, 4 3 1 5 0 1 0 10
Cognitive impairment with or without cerebellar ataxia 0 5 5 0 0 0 10
Colorectal cancer, hereditary nonpolyposis, type 2 3 3 3 1 0 0 10
Cowden syndrome 1 6 3 1 0 0 0 10
Developmental and epileptic encephalopathy, 1 2 2 6 0 0 0 10
Intellectual disability, X-linked syndromic, Turner type 0 2 7 1 0 0 10
Intellectual disability-severe speech delay-mild dysmorphism syndrome 3 4 2 1 0 0 10
Poirier-Bienvenu neurodevelopmental syndrome 3 2 5 0 0 0 10
Seizure; Microcephaly; Cerebral calcification; Intellectual disability, severe 9 0 1 0 0 0 10
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 3 5 1 0 0 0 9
Brain small vessel disease 1 with or without ocular anomalies 2 3 4 0 0 0 9
Cone-rod dystrophy 3 6 1 2 0 0 0 9
Cornelia de Lange syndrome 1 1 0 8 0 0 0 9
DYRK1A-related intellectual disability syndrome 4 2 3 0 0 0 9
Developmental and epileptic encephalopathy, 18 1 1 7 0 0 0 9
Developmental and epileptic encephalopathy, 46 2 6 1 0 0 0 9
Developmental delay with or without dysmorphic facies and autism 1 0 8 0 0 0 9
Hypertrophic cardiomyopathy 9 0 2 7 0 0 0 9
Kleefstra syndrome 1 4 2 3 0 0 0 9
Left ventricular noncompaction 10 2 2 5 0 0 0 9
Neurodegeneration with brain iron accumulation 5 5 2 1 1 0 0 9
Phelan-McDermid syndrome 5 2 2 0 0 0 9
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 3 5 0 0 0 9
X-linked intellectual disability, Cantagrel type 4 4 0 1 0 0 9
Adult hypophosphatasia 2 3 3 0 0 0 8
Autism spectrum disorder due to AUTS2 deficiency 3 1 2 2 0 0 8
CHARGE association 4 2 2 0 0 0 8
Developmental and epileptic encephalopathy, 27 2 2 4 0 0 0 8
Growth delay due to insulin-like growth factor I resistance 1 2 5 0 0 0 8
Hereditary diffuse leukoencephalopathy with spheroids 0 5 3 0 0 0 8
Intellectual disability, X-linked 1 2 3 3 0 0 0 8
Intellectual disability, autosomal dominant 14 0 3 4 1 0 0 8
Maturity-onset diabetes of the young type 2 3 3 2 0 0 0 8
Mowat-Wilson syndrome 3 3 1 1 0 0 8
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2 2 4 0 0 0 8
Phenylketonuria 6 1 1 0 0 0 8
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 1 6 1 0 0 8
Sotos syndrome 3 0 4 1 0 0 8
X-linked Alport syndrome 3 1 4 0 0 0 8
Alstrom syndrome 5 1 0 1 0 0 7
Autosomal dominant nocturnal frontal lobe epilepsy 5 1 3 3 0 0 0 7
Autosomal dominant optic atrophy classic form 4 2 1 0 0 0 7
Autosomal recessive inherited pseudoxanthoma elasticum 6 0 1 0 0 0 7
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 2 4 0 1 0 0 7
Breast neoplasm 0 0 4 2 1 0 7
Congenital myotonia, autosomal dominant form 3 3 1 0 0 0 7
Creatine transporter deficiency 3 1 3 0 0 0 7
Epilepsy, familial temporal lobe, 1 1 4 2 0 0 0 7
Hereditary spastic paraplegia 7 3 1 3 0 0 0 7
Hyperoxaluria 0 0 7 0 0 0 7
Hypokalemic periodic paralysis, type 1 1 0 5 1 0 0 7
Intellectual disability, autosomal dominant 20 1 2 4 0 0 0 7
Intellectual disability, autosomal dominant 8 1 3 3 0 0 0 7
Lamb-Shaffer syndrome 1 2 4 0 0 0 7
Lissencephaly due to LIS1 mutation 4 1 2 0 0 0 7
Metachromatic leukodystrophy 6 1 0 0 0 0 7
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2 1 4 0 0 0 7
Migraine, familial hemiplegic, 2 2 3 2 0 0 0 7
Mismatch repair cancer syndrome 1 1 2 4 0 0 0 7
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1 2 4 0 0 0 7
Osteogenesis imperfecta type I 2 4 1 0 0 0 7
Polycystic kidney disease 4 5 0 2 0 0 0 7
Syndromic X-linked intellectual disability 94 1 1 5 0 0 0 7
Arrhythmogenic right ventricular dysplasia 2 1 2 2 1 0 0 6
Arrhythmogenic right ventricular dysplasia 9 4 1 1 0 0 0 6
BAP1-related tumor predisposition syndrome 1 1 4 0 0 0 6
Charcot-Marie-Tooth disease X-linked dominant 1 0 3 3 0 0 0 6
Chopra-Amiel-Gordon syndrome 2 2 2 0 0 0 6
Chromosome 2q32-q33 deletion syndrome 4 2 0 0 0 0 6
Clark-Baraitser syndrome 3 1 2 0 0 0 6
Developmental and epileptic encephalopathy, 43 1 1 4 0 0 0 6
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 1 3 2 0 0 0 6
Dilated cardiomyopathy 1A 2 0 4 0 0 0 6
Hypercholesterolemia, autosomal dominant, 3 0 0 6 0 0 0 6
Hypertrophic cardiomyopathy 1 1 3 2 0 0 0 6
Hypotonia, ataxia, and delayed development syndrome 1 4 1 0 0 0 6
Lissencephaly type 1 due to doublecortin gene mutation 2 3 1 0 0 0 6
Long QT syndrome 2 0 2 3 1 0 0 6
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 1 3 2 0 0 0 6
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 3 3 0 0 0 6
Noonan syndrome 1 6 0 0 0 0 0 6
Osteochondritis dissecans 0 1 5 0 0 0 6
PPARG-related familial partial lipodystrophy 1 3 2 0 0 0 6
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 5 1 0 0 0 0 6
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2 1 3 0 0 0 6
Progressive sclerosing poliodystrophy 2 1 3 0 0 0 6
Seizures, benign familial infantile, 3 2 1 3 0 0 0 6
Seizures, benign familial infantile, 5 0 1 5 0 0 0 6
Smith-Magenis syndrome 1 2 2 1 0 0 6
Wilson disease 4 1 0 1 0 0 6
ZTTK syndrome 3 2 1 0 0 0 6
Autosomal dominant Alport syndrome 0 1 4 0 0 0 5
Autosomal recessive Alport syndrome 0 2 3 0 0 0 5
Autosomal recessive spinocerebellar ataxia 18 1 0 4 0 0 0 5
Beck-Fahrner syndrome 0 2 3 0 0 0 5
Bethlem myopathy 1 0 1 3 0 1 0 5
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 1 0 3 1 0 0 5
Charcot-Marie-Tooth disease axonal type 2O 2 0 3 0 0 0 5
Chromosome 15q13.3 microdeletion syndrome 5 0 0 0 0 0 5
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 3 1 1 0 5
Cystinuria 1 1 3 0 0 0 5
Developmental and epileptic encephalopathy, 14 2 1 2 0 0 0 5
Developmental and epileptic encephalopathy, 28 3 1 1 0 0 0 5
Developmental and epileptic encephalopathy, 31 0 1 4 0 0 0 5
Developmental and epileptic encephalopathy, 69 1 0 4 0 0 0 5
Epileptic encephalopathy, infantile or early childhood, 2 0 2 3 0 0 0 5
Episodic ataxia type 2 0 3 2 0 0 0 5
Febrile seizures, familial, 8 3 1 1 0 0 0 5
Galactosylceramide beta-galactosidase deficiency 2 2 1 0 0 0 5
Hereditary diffuse gastric adenocarcinoma 2 0 2 1 0 0 5
Hereditary spastic paraplegia 4 3 2 0 0 0 0 5
Immunodeficiency, common variable, 12 3 2 0 0 0 0 5
Intellectual developmental disorder with autism and macrocephaly 2 0 3 0 0 0 5
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 4 1 0 0 0 5
Intellectual developmental disorder with seizures and language delay 3 1 1 0 0 0 5
Intellectual disability, autosomal dominant 24 0 3 2 0 0 0 5
Intellectual disability, autosomal dominant 39 1 2 2 0 0 0 5
Intellectual disability, autosomal dominant 42 3 1 1 0 0 0 5
Intellectual disability, autosomal dominant 50 2 3 0 0 0 0 5
Intellectual disability, autosomal dominant 9 0 1 3 1 0 0 5
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 2 1 0 0 0 5
Li-Fraumeni syndrome 2 3 2 0 0 0 0 5
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 3 1 0 0 0 5
Microcephaly, seizures, and developmental delay 0 2 3 0 0 0 5
Migraine, familial hemiplegic, 1 1 0 4 0 0 0 5
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 2 2 0 0 0 5
Neurodevelopmental disorder with or without seizures and gait abnormalities 1 1 3 0 0 0 5
Pitt-Hopkins syndrome 1 2 2 0 0 0 5
Pituitary stalk interruption syndrome 0 3 2 0 0 0 5
Pyruvate dehydrogenase E1-alpha deficiency 2 3 0 0 0 0 5
Rubinstein-Taybi syndrome due to CREBBP mutations 0 3 1 1 0 0 5
Seizure; Microcephaly; Intellectual disability, severe 0 4 1 0 0 0 5
Seizures, benign familial infantile, 2 2 2 1 0 0 0 5
Severe intellectual disability-progressive spastic diplegia syndrome 4 1 0 0 0 0 5
Usher syndrome type 1 2 2 1 0 0 0 5
8q24.3 microdeletion syndrome 0 4 0 0 0 0 4
Aneurysm-osteoarthritis syndrome 0 1 3 0 0 0 4
Arrhythmogenic right ventricular dysplasia 10 0 3 1 0 0 0 4
Arthrogryposis multiplex congenita 3, myogenic type 0 0 3 1 0 0 4
Asphyxiating thoracic dystrophy 3 0 0 4 0 0 0 4
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1 2 0 0 0 4
Autosomal dominant nocturnal frontal lobe epilepsy 1 2 0 2 0 0 0 4
Autosomal dominant nocturnal frontal lobe epilepsy 3 1 1 2 0 0 0 4
Autosomal dominant nonsyndromic hearing loss 11 0 1 2 1 0 0 4
Bilateral frontoparietal polymicrogyria 1 2 1 0 0 0 4
Bohring-Opitz syndrome 3 0 1 0 0 0 4
CNOT9-associated neurodevelopmental disorder 1 3 0 0 0 0 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 1 3 0 0 0 4
Charcot-Marie-Tooth disease type 2A2 1 2 1 0 0 0 4
Charlevoix-Saguenay spastic ataxia 2 0 2 0 0 0 4
Cholestanol storage disease 4 0 0 0 0 0 4
Chromosome 16p12.1 deletion syndrome, 520kb 4 0 0 0 0 0 4
Chromosome 1q21.1 deletion syndrome 4 0 0 0 0 0 4
Chromosome 22q11.2 deletion syndrome, distal 4 0 0 0 0 0 4
Cleidocranial dysostosis 1 3 0 0 0 0 4
Colorectal cancer 3 1 0 0 0 0 4
Cornelia de Lange syndrome 3 0 3 0 1 0 0 4
Developmental and epileptic encephalopathy, 19 0 3 1 0 0 0 4
Developmental and epileptic encephalopathy, 32 0 3 1 0 0 0 4
Developmental and epileptic encephalopathy, 33 0 0 4 0 0 0 4
Developmental and epileptic encephalopathy, 36 1 0 1 2 0 0 4
Developmental delay and seizures with or without movement abnormalities 2 0 2 0 0 0 4
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 2 1 0 0 0 4
Dias-Logan syndrome 2 1 1 0 0 0 4
Dilated cardiomyopathy 1D 0 1 3 0 0 0 4
Dilated cardiomyopathy 1E 0 1 3 0 0 0 4
Dystonia 28, childhood-onset 2 0 2 0 0 0 4
Dystonia 5 0 1 3 0 0 0 4
Ehlers-Danlos syndrome, type 4 0 3 1 0 0 0 4
Eichsfeld type congenital muscular dystrophy 3 0 1 0 0 0 4
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 3 0 0 0 4
Epilepsy 2 1 1 0 0 0 4
Epilepsy, familial focal, with variable foci 2 0 1 3 0 0 0 4
Epilepsy; Intellectual disability 3 1 0 0 0 0 4
Familial partial lipodystrophy, Dunnigan type 1 2 1 0 0 0 4
Generalized epilepsy with febrile seizures plus, type 9 1 2 1 0 0 0 4
Global developmental delay; Seizure; Autosomal recessive inheritance 0 4 0 0 0 0 4
Heart, malformation of 0 1 3 0 0 0 4
Hereditary pancreatitis 0 0 3 0 0 1 4
Hereditary spastic paraplegia 11 3 0 1 0 0 0 4
Hyperinsulinemic hypoglycemia, familial, 1 1 1 1 1 0 0 4
Hyperlipidemia, familial combined, LPL related 1 1 2 0 0 0 4
Immunodeficiency, common variable, 2 2 1 1 0 0 0 4
Intellectual developmental disorder with autistic features and language delay, with or without seizures 2 1 1 0 0 0 4
Intellectual disability, X-linked 49 1 1 2 0 0 0 4
Intellectual disability, X-linked, syndromic, Houge type 3 0 1 0 0 0 4
Intellectual disability, autosomal dominant 55, with seizures 0 3 1 0 0 0 4
Joubert syndrome 17 2 1 1 0 0 0 4
Joubert syndrome 5 3 1 0 0 0 0 4
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1 2 1 0 0 0 4
Knobloch syndrome 1 0 2 1 0 0 4
Leukoencephalopathy, progressive, with ovarian failure 3 1 0 0 0 0 4
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2 2 0 0 0 0 4
Mandibulofacial dysostosis-microcephaly syndrome 1 1 2 0 0 0 4
Marshall syndrome 1 0 1 2 0 0 4
Multiple endocrine neoplasia, type 1 0 0 4 0 0 0 4
Multiple endocrine neoplasia, type 2b 1 0 1 2 0 0 4
Neoplasm of ovary 0 0 1 1 2 0 4
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 1 2 0 0 0 4
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2 1 1 0 0 0 4
Niemann-Pick disease, type C1 3 0 1 0 0 0 4
Ogden syndrome 2 0 2 0 0 0 4
Okur-Chung neurodevelopmental syndrome 1 1 2 0 0 0 4
PMM2-congenital disorder of glycosylation 2 1 1 0 0 0 4
Parkinson disease, late-onset 0 3 1 0 0 0 4
Pontocerebellar hypoplasia, type 16 0 4 0 0 0 0 4
Porencephaly 2 0 1 2 1 0 0 4
Retinitis pigmentosa 1 1 2 1 0 0 0 4
Retinitis pigmentosa 3 1 3 0 0 0 0 4
Retinitis pigmentosa 4 0 4 0 0 0 0 4
Seizure 0 0 2 2 0 0 4
Seizures, benign familial neonatal, 1 1 3 0 0 0 0 4
Short stature with nonspecific skeletal abnormalities 1 0 3 0 0 0 4
Silver-Russell syndrome 3 0 3 1 0 0 0 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 2 1 1 0 4
Syndromic X-linked intellectual disability Najm type 1 2 1 0 0 0 4
Temple-Baraitser syndrome 2 1 1 0 0 0 4
Vanishing white matter disease 0 1 3 0 0 0 4
Wiedemann-Steiner syndrome 1 1 2 0 0 0 4
X-linked intellectual disability with marfanoid habitus 0 1 3 0 0 0 4
not provided 0 2 2 0 0 0 4
3-methylcrotonyl-CoA carboxylase 2 deficiency 2 0 1 0 0 0 3
Aarskog syndrome 1 0 2 0 0 0 3
Aicardi-Goutieres syndrome 7 0 0 2 1 0 0 3
Alagille syndrome due to a JAG1 point mutation 1 1 1 0 0 0 3
Alternating hemiplegia of childhood 1 0 1 2 0 0 0 3
Alternating hemiplegia of childhood 2 1 0 2 0 0 0 3
Amelocerebrohypohidrotic syndrome 2 1 0 0 0 0 3
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 3 0 0 0 0 3
Aniridia 1 2 0 1 0 0 0 3
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 1 1 0 0 0 3
Argininosuccinate lyase deficiency 2 1 0 0 0 0 3
Ataxia-telangiectasia syndrome 1 0 2 0 0 0 3
Ateleiotic dwarfism 1 0 2 0 0 0 3
Autism; Intellectual disability 1 2 0 0 0 0 3
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 3 0 0 0 0 3
Autosomal dominant nonsyndromic hearing loss 13 0 0 3 0 0 0 3
Autosomal recessive congenital ichthyosis 2 1 1 1 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 1A 3 0 0 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 3 0 1 1 1 0 0 3
Baraitser-Winter syndrome 1 0 2 1 0 0 0 3
Basilicata-Akhtar syndrome 2 1 0 0 0 0 3
Becker muscular dystrophy 1 1 1 0 0 0 3
Bifunctional peroxisomal enzyme deficiency 1 1 1 0 0 0 3
Birt-Hogg-Dube syndrome 2 0 0 1 0 0 3
Blepharophimosis - intellectual disability syndrome, SBBYS type 2 1 0 0 0 0 3
Bloom syndrome 1 1 1 0 0 0 3
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 2 1 0 0 0 3
Bronchiectasis with or without elevated sweat chloride 1 1 2 0 0 0 0 3
CST3-related Leukodystrophy 0 0 3 0 0 0 3
Cardiofaciocutaneous syndrome 1 1 2 0 0 0 0 3
Cardiofaciocutaneous syndrome 3 2 1 0 0 0 0 3
Central core myopathy 1 0 2 0 0 0 3
Cerebral cavernous malformation 0 2 1 0 0 0 3
Charcot-Marie-Tooth disease dominant intermediate D 1 1 1 0 0 0 3
Charcot-Marie-Tooth disease type 2E 0 0 3 0 0 0 3
Charcot-Marie-Tooth disease type 4B2 0 2 1 0 0 0 3
Charcot-Marie-Tooth disease type 4C 2 0 1 0 0 0 3
Chromosome 15q11.2 deletion syndrome 2 0 1 0 0 0 3
Chromosome 1p32-p31 deletion syndrome 1 2 0 0 0 0 3
Cobalamin C disease 2 0 1 0 0 0 3
Coffin-Siris syndrome 6 1 1 0 0 1 0 3
Combined immunodeficiency with skin granulomas 0 1 2 0 0 0 3
Complex cortical dysplasia with other brain malformations 7 0 1 2 0 0 0 3
Cone-rod dystrophy 12 3 0 0 0 0 0 3
Cone-rod dystrophy 15 0 2 1 0 0 0 3
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 1 0 0 0 3
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0 0 1 2 0 0 3
Craniosynostosis 7 0 1 2 0 0 0 3
Deficiency of guanidinoacetate methyltransferase 2 1 0 0 0 0 3
Dent disease type 1 0 1 2 0 0 0 3
Developmental and epileptic encephalopathy, 17 0 1 2 0 0 0 3
Developmental and epileptic encephalopathy, 24 1 0 2 0 0 0 3
Developmental and epileptic encephalopathy, 45 0 3 0 0 0 0 3
Developmental and epileptic encephalopathy, 54 1 0 2 0 0 0 3
Developmental and epileptic encephalopathy, 57 2 0 1 0 0 0 3
Developmental and epileptic encephalopathy, 64 1 1 1 0 0 0 3
Developmental and epileptic encephalopathy, 71 3 0 0 0 0 0 3
Developmental and epileptic encephalopathy, 74 0 1 2 0 0 0 3
Developmental and epileptic encephalopathy, 8 0 1 2 0 0 0 3
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 1 2 0 0 0 0 3
Developmental delay with dysmorphic facies and dental anomalies 1 1 1 0 0 0 3
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 2 0 0 0 3
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 3 0 0 0 0 3
DiGeorge syndrome 3 0 0 0 0 0 3
Dilated cardiomyopathy 3B 2 0 1 0 0 0 3
Dyskinesia with orofacial involvement, autosomal dominant 1 1 1 0 0 0 3
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 1 1 0 0 0 3
Ehlers-Danlos syndrome, classic type, 1 0 3 0 0 0 0 3
Ehlers-Danlos syndrome, classic type, 2 1 0 2 0 0 0 3
Endometrial carcinoma 3 0 0 0 0 0 3
Epilepsy; Neurodevelopmental delay 1 0 2 0 0 0 3
Epileptic encephalopathy, infantile or early childhood, 3 0 1 2 0 0 0 3
Episodic ataxia type 1 0 2 1 0 0 0 3
Episodic pain syndrome, familial, 2 0 0 3 0 0 0 3
Familial Mediterranean fever, autosomal dominant 1 0 2 0 0 0 3
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 1 1 0 0 0 3
Familial hypokalemia-hypomagnesemia 2 0 1 0 0 0 3
Familial temporal lobe epilepsy 7 0 0 3 0 0 0 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 1 2 0 0 0 3
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 3 0 0 0 3
Glaucoma 3A 1 1 1 0 0 0 3
Global developmental delay; Delayed speech and language development; Intellectual disability 0 3 0 0 0 0 3
Glycogen storage disease IXa1 0 1 2 0 0 0 3
Glycogen storage disease, type II 2 0 1 0 0 0 3
Hereditary spherocytosis type 1 1 2 0 0 0 0 3
Heterotopia, periventricular, X-linked dominant 1 1 1 0 0 0 3
Holoprosencephaly 3 0 0 3 0 0 0 3
Hyperphosphatasia with intellectual disability syndrome 3 1 2 0 0 0 0 3
Hypochondroplasia 1 0 2 0 0 0 3
Hypohidrotic X-linked ectodermal dysplasia 2 0 1 0 0 0 3
Intellectual developmental disorder, autosomal dominant 65 0 3 0 0 0 0 3
Intellectual disability, X-linked 41 1 1 1 0 0 0 3
Intellectual disability, autosomal dominant 16 0 1 2 0 0 0 3
Intellectual disability, autosomal dominant 27 0 1 2 0 0 0 3
Intellectual disability, autosomal dominant 29 1 2 0 0 0 0 3
Intellectual disability, autosomal dominant 41 0 1 2 0 0 0 3
Intellectual disability, autosomal dominant 43 0 0 2 1 0 0 3
Intellectual disability, autosomal dominant 45 0 1 1 1 0 0 3
Intellectual disability, autosomal dominant 54 1 0 2 0 0 0 3
Intellectual disability, autosomal dominant 56 1 1 1 0 0 0 3
Intellectual disability, autosomal dominant 57 1 0 1 1 0 0 3
Intellectual disability, autosomal recessive 42 1 2 0 0 0 0 3
Joubert syndrome 23 3 0 0 0 0 0 3
Joubert syndrome 3 3 0 0 0 0 0 3
Joubert syndrome 6 1 0 2 0 0 0 3
Kabuki syndrome 2 1 1 1 0 0 0 3
Koolen-de Vries syndrome 2 1 0 0 0 0 3
LEOPARD syndrome 1 2 1 0 0 0 0 3
Macrocephaly, acquired, with impaired intellectual development 0 0 3 0 0 0 3
Macrocephaly-autism syndrome 2 1 0 0 0 0 3
Macular dystrophy 1 2 0 0 0 0 3
Malan overgrowth syndrome 1 2 0 0 0 0 3
Malignant hyperthermia, susceptibility to, 5 0 2 1 0 0 0 3
Maturity-onset diabetes of the young type 3 2 1 0 0 0 0 3
Meckel syndrome, type 3 0 0 3 0 0 0 3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 2 1 0 0 0 3
Melnick-Needles syndrome 0 0 2 1 0 0 3
Microcephalic osteodysplastic primordial dwarfism type II 0 3 0 0 0 0 3
Microcephalic primordial dwarfism, Alazami type 3 0 0 0 0 0 3
Microcephaly 18, primary, autosomal dominant 0 0 3 0 0 0 3
Multiple congenital anomalies-hypotonia-seizures syndrome 3 2 0 1 0 0 0 3
Multiple endocrine neoplasia, type 2a 2 0 1 0 0 0 3
Myopathy, proximal, and ophthalmoplegia 0 1 2 0 0 0 3
Nemaline myopathy 2 1 0 1 0 1 0 3
Nephronophthisis 16 1 2 0 0 0 0 3
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 2 1 0 0 0 3
Neurodevelopmental disorder with severe motor impairment and absent language 1 0 2 0 0 0 3
Neurofibromatosis-Noonan syndrome 3 0 0 0 0 0 3
Neuronal ceroid lipofuscinosis 1 1 1 1 0 0 0 3
Neuronopathy, distal hereditary motor, type 2B 1 1 1 0 0 0 3
Niemann-Pick disease, type A 1 2 0 0 0 0 3
Non-ketotic hyperglycinemia 0 2 0 1 0 0 3
Noonan syndrome 4 0 1 2 0 0 0 3
O'Donnell-Luria-Rodan syndrome 1 1 1 0 0 0 3
Pheochromocytoma 2 1 0 0 0 0 3
Pierpont syndrome 0 1 2 0 0 0 3
Progressive familial heart block type IB 0 0 2 1 0 0 3
Pseudohypoparathyroidism type I A 1 1 1 0 0 0 3
Pyridoxal phosphate-responsive seizures 1 1 1 0 0 0 3
Pyridoxine-dependent epilepsy 1 1 1 0 0 0 3
Radio-Tartaglia syndrome 2 1 0 0 0 0 3
Rauch-Steindl syndrome 1 1 1 0 0 0 3
Retinitis pigmentosa 37 2 0 1 0 0 0 3
Retinitis pigmentosa 7 1 1 1 0 0 0 3
Sandhoff disease 1 0 1 1 0 0 3
Schaaf-Yang syndrome 1 1 1 0 0 0 3
Schwannomatosis 1 0 3 0 0 0 0 3
Schwannomatosis 2 1 2 0 0 0 0 3
Seizures, benign familial neonatal, 2 0 1 2 0 0 0 3
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 2 1 0 0 3
Spinocerebellar ataxia type 5 0 0 3 0 0 0 3
Tatton-Brown-Rahman overgrowth syndrome 0 2 0 1 0 0 3
Tay-Sachs disease 1 2 0 0 0 0 3
Tetralogy of Fallot 0 3 0 0 0 0 3
Type 2 diabetes mellitus 0 1 2 0 0 0 3
Tyrosinase-positive oculocutaneous albinism 2 0 1 0 0 0 3
Vissers-Bodmer syndrome 1 0 2 0 0 0 3
Waardenburg syndrome type 1 1 2 0 0 0 0 3
Weaver syndrome 1 1 1 0 0 0 3
Werner syndrome 2 0 1 0 0 0 3
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 2 0 0 0 3
Zimmermann-Laband syndrome 1 2 0 1 0 0 0 3
16p13.11 microdeletion syndrome 2 0 0 0 0 0 2
2-hydroxyglutaric aciduria 1 1 0 0 0 0 2
ASCC3-associated disorder 0 0 2 0 0 0 2
Achondroplasia 1 0 1 0 0 0 2
Acrofacial dysostosis Cincinnati type 0 0 2 0 0 0 2
Adenylosuccinate lyase deficiency 1 0 1 0 0 0 2
Adult polyglucosan body disease 2 0 0 0 0 0 2
Adult-onset foveomacular vitelliform dystrophy 0 2 0 0 0 0 2
Agammaglobulinemia 8, autosomal dominant 0 1 1 0 0 0 2
Aicardi-Goutieres syndrome 1 0 2 0 0 0 0 2
Androgen resistance syndrome 1 1 0 0 0 0 2
Anemia, congenital dyserythropoietic, type 1a 0 0 2 0 0 0 2
Angelman syndrome 1 1 0 0 0 0 2
Aortic aneurysm, familial thoracic 7 1 0 1 0 0 0 2
Aortic valve disease 2 0 0 2 0 0 0 2
Aortic valve disease 3 0 0 2 0 0 0 2
Arrhythmogenic right ventricular dysplasia 11 0 2 0 0 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 1 0 0 0 0 2
Auriculocondylar syndrome 2 1 0 1 0 0 0 2
Autism, susceptibility to, 5 0 2 0 0 0 0 2
Autism, susceptibility to, X-linked 4 0 1 1 0 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 1 1 0 0 0 2
Autosomal dominant striatal neurodegeneration type 1 0 0 2 0 0 0 2
Autosomal recessive ataxia, Beauce type 1 0 0 0 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 1 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 8 0 1 1 0 0 0 2
Autosomal recessive proximal renal tubular acidosis 1 1 0 0 0 0 2
BENTA disease 0 0 2 0 0 0 2
Bardet-Biedl syndrome 9 2 0 0 0 0 0 2
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 1 1 0 0 0 2
Beta-thalassemia HBB/LCRB 2 0 0 0 0 0 2
Bethlem myopathy 2 0 0 2 0 0 0 2
Bietti crystalline corneoretinal dystrophy 2 0 0 0 0 0 2
Bilateral renal agenesis 0 2 0 0 0 0 2
Birk-Barel syndrome 0 1 1 0 0 0 2
Borjeson-Forssman-Lehmann syndrome 1 1 0 0 0 0 2
Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 1 1 0 0 0 2
CFHR5 deficiency 0 0 2 0 0 0 2
CLOVES syndrome 1 1 0 0 0 0 2
Cataract 18 1 1 0 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 2 0 0 0 0 2
Cenani-Lenz syndactyly syndrome 0 2 0 0 0 0 2
Cerebroretinal microangiopathy with calcifications and cysts 1 1 1 0 0 0 0 2
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 2 0 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2T 1 0 1 0 0 0 2
Charcot-Marie-Tooth disease type 2D 1 1 0 0 0 0 2
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 1 1 0 0 0 0 2
Charcot-Marie-Tooth disease, type IA 1 0 1 0 0 0 2
Cholestasis-edema syndrome, Norwegian type 2 0 0 0 0 0 2
Chorea-acanthocytosis 0 1 1 0 0 0 2
Chromosome 17q12 deletion syndrome 1 1 0 0 0 0 2
Chromosome 1q21.1 duplication syndrome 2 0 0 0 0 0 2
Chromosome 22q11.2 microduplication syndrome 1 0 1 0 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 1 0 0 0 0 2
Coffin-Siris syndrome 10 0 0 2 0 0 0 2
Coffin-Siris syndrome 8 0 1 1 0 0 0 2
Combined oxidative phosphorylation defect type 24 0 0 2 0 0 0 2
Combined oxidative phosphorylation deficiency 35 0 1 1 0 0 0 2
Complex cortical dysplasia with other brain malformations 1 0 2 0 0 0 0 2
Complex cortical dysplasia with other brain malformations 5 0 2 0 0 0 0 2
Cone-rod dystrophy 21 0 1 1 0 0 0 2
Cone-rod dystrophy 6 2 0 0 0 0 0 2
Congenital factor VII deficiency 0 1 1 0 0 0 2
Congenital heart defects and ectodermal dysplasia 0 0 1 0 1 0 2
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 0 1 0 0 0 2
Congenital microvillous atrophy 1 0 0 1 0 0 2
Congenital myasthenic syndrome 5 1 0 1 0 0 0 2
Congenital myopathy 4B, autosomal recessive 0 0 2 0 0 0 2
Congenital stationary night blindness 1E 1 0 1 0 0 0 2
Congenital stationary night blindness 2A 1 0 1 0 0 0 2
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 1 0 1 0 0 0 2
DeSanto-Shinawi syndrome due to WAC point mutation 0 1 1 0 0 0 2
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 1 1 0 0 0 2
Dent disease type 2 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy 6B 1 0 0 0 1 0 2
Developmental and epileptic encephalopathy, 16 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 38 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 44 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 49 0 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 63 1 1 0 0 0 0 2
Developmental and epileptic encephalopathy, 65 1 0 1 0 0 0 2
Developmental and epileptic encephalopathy, 75 0 0 2 0 0 0 2
Developmental delay with autism spectrum disorder and gait instability 0 0 2 0 0 0 2
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 1 0 0 0 0 2
Developmental delay, impaired speech, and behavioral abnormalities 0 0 2 0 0 0 2
Diastrophic dysplasia 0 2 0 0 0 0 2
Dihydropyrimidine dehydrogenase deficiency 0 1 1 0 0 0 2
Dilated cardiomyopathy 1JJ 0 0 1 0 1 0 2
Distal arthrogryposis type 5D 0 2 0 0 0 0 2
Dominant beta-thalassemia 1 1 0 0 0 0 2
Dystonia 12 2 0 0 0 0 0 2
Ehlers-Danlos syndrome, classic type 0 0 2 0 0 0 2
Ehlers-Danlos syndrome, musculocontractural type 0 0 2 0 0 0 2
Elliptocytosis 2 0 0 2 0 0 0 2
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 1 0 0 2
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 0 2 0 0 0 2
Epidermolytic palmoplantar keratoderma 1 0 1 0 0 0 2
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 1 1 0 0 0 2
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features 0 0 2 0 0 0 2
Epilepsy, childhood absence 2 0 0 2 0 0 0 2
Epilepsy, early-onset, with or without developmental delay 0 0 2 0 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 12 0 1 1 0 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 15 1 0 1 0 0 0 2
Epilepsy, progressive myoclonic, 11 1 1 0 0 0 0 2
Episodic ataxia type 6 0 0 2 0 0 0 2
Exostoses, multiple, type 1 1 1 0 0 0 0 2
FG syndrome 1 0 1 1 0 0 0 2
FG syndrome 4 0 1 1 0 0 0 2
FRAXE 0 0 2 0 0 0 2
Fabry disease 0 1 0 0 1 0 2
Familial Mediterranean fever 1 0 1 0 0 0 2
Familial adenomatous polyposis 2 1 1 0 0 0 0 2
Familial hemophagocytic lymphohistiocytosis 3 2 0 0 0 0 0 2
Febrile seizures, familial, 11 0 1 1 0 0 0 2
Febrile seizures, familial, 2 0 0 2 0 0 0 2
Fetal hemoglobin quantitative trait locus 1 2 0 0 0 0 0 2
Fliedner-Zweier syndrome 1 1 0 0 0 0 2
Floating-Harbor syndrome 0 0 1 1 0 0 2
Focal segmental glomerulosclerosis 2 0 0 2 0 0 0 2
Focal segmental glomerulosclerosis 7 0 0 2 0 0 0 2
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 0 0 2 0 0 0 2
Fumarase deficiency 0 1 1 0 0 0 2
Gastrointestinal defects and immunodeficiency syndrome 1 0 0 2 0 0 0 2
Gaucher disease type I 2 0 0 0 0 0 2
Generalized epilepsy with febrile seizures plus, type 10 0 1 1 0 0 0 2
Glutaric aciduria, type 1 2 0 0 0 0 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 0 0 0 0 0 2
Glycogen storage disease type III 0 2 0 0 0 0 2
Glycosylphosphatidylinositol biosynthesis defect 15 0 1 1 0 0 0 2
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2 0 0 0 0 0 2
Hajdu-Cheney syndrome 1 0 1 0 0 0 2
Hearing loss, autosomal dominant 73 0 1 1 0 0 0 2
Hemochromatosis type 1 1 0 1 0 0 0 2
Hemolytic uremic syndrome, atypical, susceptibility to, 1 1 1 0 0 0 0 2
Hereditary angioedema type 1 1 1 0 0 0 0 2
Hereditary insensitivity to pain with anhidrosis 1 0 0 0 1 0 2
Hereditary spastic paraplegia 47 0 1 1 0 0 0 2
Heterotaxy, visceral, 12, autosomal 0 1 1 0 0 0 2
Heterotaxy, visceral, 8, autosomal 0 0 1 1 0 0 2
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 0 1 0 0 0 2
Huntington disease 0 0 1 1 0 0 2
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 2 0 0 0 0 0 2
Hypercalcemia, infantile, 2 0 0 2 0 0 0 2
Hypercholesterolemia 0 0 1 0 1 0 2
Hyperlipoproteinemia, type 1D 0 1 1 0 0 0 2
Hyperphosphatasia with intellectual disability syndrome 1 1 1 0 0 0 0 2
Hypertrophic cardiomyopathy 10 0 1 1 0 0 0 2
Hypertrophic cardiomyopathy 26 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy; Severe hydrops fetalis; Concentric hypertrophic cardiomyopathy; Noncompaction cardiomyopathy; Hydrops fetalis 0 2 0 0 0 0 2
Hypogonadotropic hypogonadism 1 with or without anosmia 1 1 0 0 0 0 2
Hypomyelinating leukodystrophy 6 1 0 1 0 0 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 0 0 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 1 0 0 1 0 0 2
Ichthyosis vulgaris 1 0 1 0 0 0 2
Ichthyosis, congenital, autosomal recessive 13 0 1 1 0 0 0 2
Immunodeficiency 67 1 0 1 0 0 0 2
Incontinentia pigmenti syndrome 1 1 0 0 0 0 2
Infantile convulsions and choreoathetosis 0 0 2 0 0 0 2
Infantile cortical hyperostosis 1 1 0 0 0 0 2
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 1 1 0 0 0 2
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 1 0 0 0 2
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 2 0 0 0 0 2
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 1 1 0 0 0 2
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 1 0 0 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 1 0 0 0 0 2
Intellectual developmental disorder, autosomal dominant 66 0 0 2 0 0 0 2
Intellectual developmental disorder, autosomal dominant 67 0 2 0 0 0 0 2
Intellectual developmental disorder, autosomal recessive 68 2 0 0 0 0 0 2
Intellectual developmental disorder, autosomal recessive 81 0 0 2 0 0 0 2
Intellectual disability, X-linked 104 0 1 1 0 0 0 2
Intellectual disability, X-linked 19 0 2 0 0 0 0 2
Intellectual disability, X-linked 21 0 0 2 0 0 0 2
Intellectual disability, X-linked 63 0 1 0 1 0 0 2
Intellectual disability, X-linked 93 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 22 0 1 1 0 0 0 2
Intellectual disability, autosomal dominant 33 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 46 0 1 1 0 0 0 2
Intellectual disability, autosomal dominant 58 0 1 1 0 0 0 2
Intellectual disability, autosomal recessive 13 0 0 1 0 1 0 2
Intellectual disability, autosomal recessive 3 1 1 0 0 0 0 2
Intellectual disability, autosomal recessive 46 0 2 0 0 0 0 2
Intellectual disability, autosomal recessive 57 1 1 0 0 0 0 2
Intellectual disability, autosomal recessive 60 2 0 0 0 0 0 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 2 0 0 0 2
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 2 0 0 0 0 0 2
Isolated focal cortical dysplasia type II 0 0 2 0 0 0 2
Isolated microphthalmia 5 0 1 1 0 0 0 2
Isovaleryl-CoA dehydrogenase deficiency 2 0 0 0 0 0 2
Jalili syndrome 0 2 0 0 0 0 2
Joubert syndrome 18 0 1 1 0 0 0 2
Joubert syndrome 9 1 1 0 0 0 0 2
Juvenile retinoschisis 1 0 1 0 0 0 2
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 1 1 0 0 0 0 2
Kohlschutter-Tonz syndrome-like 0 1 1 0 0 0 2
Kufor-Rakeb syndrome 0 0 2 0 0 0 2
L-2-hydroxyglutaric aciduria 1 1 0 0 0 0 2
Larsen-like syndrome, B3GAT3 type 1 1 0 0 0 0 2
Leber congenital amaurosis 1 1 1 0 0 0 0 2
Leber congenital amaurosis 2 2 0 0 0 0 0 2
Leber optic atrophy 2 0 0 0 0 0 2
Leigh syndrome 1 1 0 0 0 0 2
Lenz-Majewski hyperostosis syndrome 0 0 2 0 0 0 2
Lethal tight skin contracture syndrome 2 0 0 0 0 0 2
Leukodystrophy, hypomyelinating, 15 0 0 2 0 0 0 2
Leukoencephalopathy with vanishing white matter 5 0 0 2 0 0 0 2
Lissencephaly 10 1 0 1 0 0 0 2
Lissencephaly 9 with complex brainstem malformation 0 0 1 1 0 0 2
Long QT syndrome 3 0 2 0 0 0 0 2
Luscan-Lumish syndrome 0 1 1 0 0 0 2
MHC class II deficiency 0 2 0 0 0 0 2
Maple syrup urine disease 2 0 0 0 0 0 2
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 0 1 0 0 0 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 2 0 0 0 0 2
Menke-Hennekam syndrome 1 1 0 1 0 0 0 2
Menkes kinky-hair syndrome 1 0 1 0 0 0 2
Metaphyseal chondrodysplasia, McKusick type 0 1 1 0 0 0 2
Metaphyseal chondrodysplasia, Schmid type 0 2 0 0 0 0 2
Methylmalonic acidemia with homocystinuria, type cblX 0 0 2 0 0 0 2
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 0 2 0 0 0 2
Mitochondrial DNA depletion syndrome 13 2 0 0 0 0 0 2
Mitochondrial DNA depletion syndrome 4b 0 0 2 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 5 1 0 1 0 0 0 2
Mosaic variegated aneuploidy syndrome 1 2 0 0 0 0 0 2
Mucopolysaccharidosis, MPS-III-A 1 1 0 0 0 0 2
Mucopolysaccharidosis, MPS-III-B 2 0 0 0 0 0 2
Mucopolysaccharidosis, MPS-IV-A 0 2 0 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 1 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 2 0 0 0 2
Multiple congenital exostosis 0 1 1 0 0 0 2
Multiple endocrine neoplasia type 4 0 1 0 1 0 0 2
Multiple mitochondrial dysfunctions syndrome 1 0 1 1 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 2 0 0 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 0 1 1 0 0 0 2
Myhre syndrome 2 0 0 0 0 0 2
Myosin storage myopathy 0 0 2 0 0 0 2
Nail-patella syndrome 0 1 1 0 0 0 2
Nephrotic syndrome, type 2 0 0 2 0 0 0 2
Neurodegeneration with brain iron accumulation 2B 2 0 0 0 0 0 2
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 1 1 0 0 0 2
Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 1 1 0 0 0 2
Neurodevelopmental disorder with hearing loss and spasticity 1 1 0 0 0 0 2
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures 0 1 1 0 0 0 2
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 1 0 0 0 2
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 1 0 0 0 2
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 0 0 2 0 0 0 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 1 0 0 0 2
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 2 0 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 0 0 0 0 2
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 1 0 2
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 2 0 0 0 2
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 2 0 0 0 0 2
Neurohypophyseal diabetes insipidus 1 1 0 0 0 0 2
Neuronal ceroid lipofuscinosis 13 0 0 2 0 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 1 0 0 0 2
Neuronopathy, distal hereditary motor, type 7A 0 1 1 0 0 0 2
Neuropathy, hereditary sensory, type 1D 0 0 2 0 0 0 2
Neutral 1 amino acid transport defect 1 1 0 0 0 0 2
Nizon-Isidor syndrome 0 2 0 0 0 0 2
Noonan syndrome 10 0 0 2 0 0 0 2
Noonan syndrome 2 1 1 0 0 0 0 2
Noonan syndrome 3 2 0 0 0 0 0 2
Noonan syndrome 7 2 0 0 0 0 0 2
Obesity 0 0 2 0 0 0 2
Obesity; Brachycephaly; Single transverse palmar crease; Large for gestational age; Short foot; Mild global developmental delay; Small hand 2 0 0 0 0 0 2
Oculocerebrofacial syndrome, Kaufman type 0 0 2 0 0 0 2
Oculofaciocardiodental syndrome 1 0 1 0 0 0 2
Oculootoradial syndrome 0 1 1 0 0 0 2
Ornithine carbamoyltransferase deficiency 2 0 0 0 0 0 2
Orofaciodigital syndrome I 2 0 0 0 0 0 2
Osteogenesis imperfecta type 8 0 0 1 1 0 0 2
Osteopathia striata with cranial sclerosis 0 0 0 2 0 0 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive 2 0 0 0 0 0 2
Ovarian carcinoma 2 0 0 0 0 0 2
PCWH syndrome 2 0 0 0 0 0 2
POLG-related disorder 0 2 0 0 0 0 2
Paragangliomas 2 0 1 1 0 0 0 2
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 1 0 0 1 0 0 2
Peutz-Jeghers syndrome 0 0 2 0 0 0 2
Pituitary hormone deficiency, combined, 2 0 2 0 0 0 0 2
Pontocerebellar hypoplasia type 2D 0 0 2 0 0 0 2
Pontocerebellar hypoplasia type 9 0 2 0 0 0 0 2
Pontocerebellar hypoplasia, type 14 0 0 2 0 0 0 2
Potassium-aggravated myotonia 0 1 1 0 0 0 2
Primary erythromelalgia 0 0 1 1 0 0 2
Primrose syndrome 1 0 1 0 0 0 2
Progressive myoclonic epilepsy type 7 0 1 1 0 0 0 2
Pseudohypoparathyroidism 1 1 0 0 0 0 2
Pyruvate dehydrogenase E3-binding protein deficiency 2 0 0 0 0 0 2
RYR1-Related Disorders 0 2 0 0 0 0 2
Rahman syndrome 2 0 0 0 0 0 2
Recessive dystrophic epidermolysis bullosa 2 0 0 0 0 0 2
Renal hypodysplasia/aplasia 3 0 0 2 0 0 0 2
Retinal dystrophy; Retinal degeneration 1 0 1 0 0 0 2
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 1 1 0 0 0 0 2
Retinitis pigmentosa 25 1 1 0 0 0 0 2
Retinitis pigmentosa 26 2 0 0 0 0 0 2
Retinitis pigmentosa 42 1 1 0 0 0 0 2
Retinitis pigmentosa 47 1 0 1 0 0 0 2
Retinitis pigmentosa 73 0 2 0 0 0 0 2
Retinitis pigmentosa 80 0 0 2 0 0 0 2
Ritscher-Schinzel syndrome 2 0 0 2 0 0 0 2
SLC35A2-congenital disorder of glycosylation 1 1 0 0 0 0 2
STAT3-related early-onset multisystem autoimmune disease 0 1 1 0 0 0 2
SYNCRIP-associated neurodevelopmental disorder 0 2 0 0 0 0 2
Saldino-Mainzer syndrome 1 1 0 0 0 0 2
Seizure; Neurodevelopmental delay 0 0 1 1 0 0 2
Severe X-linked mitochondrial encephalomyopathy 0 1 1 0 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2 0 0 0 0 0 2
Severe neonatal-onset encephalopathy with microcephaly 1 0 0 0 1 0 2
Short stature due to primary acid-labile subunit deficiency 0 0 1 1 0 0 2
Skraban-Deardorff syndrome 1 0 1 0 0 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 0 0 2
Snijders blok-fisher syndrome 0 2 0 0 0 0 2
Spastic paraplegia 52, autosomal recessive 2 0 0 0 0 0 2
Spinocerebellar ataxia 45 0 0 2 0 0 0 2
Spinocerebellar ataxia 48 0 2 0 0 0 0 2
Spinocerebellar ataxia type 11 0 1 1 0 0 0 2
Spinocerebellar ataxia type 13 1 1 0 0 0 0 2
Spinocerebellar ataxia type 15/16 0 0 2 0 0 0 2
Stickler syndrome type 1 1 1 0 0 0 0 2
Surfactant metabolism dysfunction, pulmonary, 1 2 0 0 0 0 0 2
Syndromic X-linked intellectual disability 14 0 2 0 0 0 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 1 0 0 0 2
Syndromic X-linked intellectual disability Lubs type 2 0 0 0 0 0 2
TCF12-related craniosynostosis 1 1 0 0 0 0 2
Tall stature-scoliosis-macrodactyly of the great toes syndrome 0 1 1 0 0 0 2
Telangiectasia, hereditary hemorrhagic, type 2 2 0 0 0 0 0 2
Temtamy syndrome 2 0 0 0 0 0 2
Tyrosinemia type I 2 0 0 0 0 0 2
Ullrich congenital muscular dystrophy 1 0 2 0 0 0 0 2
Vasculitis due to ADA2 deficiency 2 0 0 0 0 0 2
Vertebral, cardiac, renal, and limb defects syndrome 1 0 0 2 0 0 0 2
Vertebral, cardiac, renal, and limb defects syndrome 2 0 1 1 0 0 0 2
Vitelliform macular dystrophy 2 0 2 0 0 0 0 2
Vitelliform macular dystrophy 5 1 1 0 0 0 0 2
Waardenburg syndrome type 2A 1 0 1 0 0 0 2
Waardenburg syndrome type 4C 0 1 0 1 0 0 2
Weiss-kruszka syndrome 2 0 0 0 0 0 2
Wiskott-Aldrich syndrome 0 1 1 0 0 0 2
Wolfram syndrome 1 0 2 0 0 0 0 2
Wolfram-like syndrome 1 0 1 0 0 0 2
X-linked chondrodysplasia punctata 1 0 0 2 0 0 0 2
X-linked intellectual disability Cabezas type 1 1 0 0 0 0 2
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 1 0 0 0 0 2
X-linked myopathy with postural muscle atrophy 0 2 0 0 0 0 2
16p11.2p12.2 microduplication syndrome 1 0 0 0 0 0 1
16p13.11 microduplication syndrome 1 0 0 0 0 0 1
2q13 microdeletion syndrome 1 0 0 0 0 0 1
3MC syndrome 1 0 0 1 0 0 0 1
46,XX ovarian dysgenesis-short stature syndrome 1 0 0 0 0 0 1
46,XY sex reversal 3 0 1 0 0 0 0 1
46,XY sex reversal 6 0 0 0 1 0 0 1
4p partial monosomy syndrome 0 0 1 0 0 0 1
8p23.1 duplication syndrome 1 0 0 0 0 0 1
ACCES syndrome 1 0 0 0 0 0 1
ADan amyloidosis 0 0 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 1 0 0 0 1
ALG1-congenital disorder of glycosylation 0 0 1 0 0 0 1
ALG6-congenital disorder of glycosylation 1C 0 1 0 0 0 0 1
ALG8 congenital disorder of glycosylation 0 0 1 0 0 0 1
ANK2-associated Neurodevelopmental Disorder 1 0 0 0 0 0 1
Abdominal obesity-metabolic syndrome 3 0 0 1 0 0 0 1
Achondrogenesis, type IB 0 1 0 0 0 0 1
Achromatopsia 3 1 0 0 0 0 0 1
Acne inversa, familial, 1 1 0 0 0 0 0 1
Acral peeling skin syndrome 0 0 1 0 0 0 1
Acrocallosal syndrome 0 0 1 0 0 0 1
Acrocephalosyndactyly type I 0 0 1 0 0 0 1
Acrodysostosis 2 with or without hormone resistance 0 1 0 0 0 0 1
Acromicric dysplasia 0 0 1 0 0 0 1
Actin accumulation myopathy 1 0 0 0 0 0 1
Acute intermittent porphyria 0 0 1 0 0 0 1
Acyl-CoA oxidase deficiency 0 0 0 1 0 0 1
Adams-Oliver syndrome 2 0 0 1 0 0 0 1
Adenocarcinoma 0 1 0 0 0 0 1
Adermatoglyphia 1 0 0 0 0 0 1
Agammaglobulinemia 4, autosomal recessive 0 1 0 0 0 0 1
Age related macular degeneration 2 0 1 0 0 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 0 0 1
Alexander disease 0 0 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 1 0 0 0 0 1
Alzheimer disease 3 0 1 0 0 0 0 1
Alzheimer disease type 1 1 0 0 0 0 0 1
Amyotrophic lateral sclerosis type 1 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 2, juvenile 1 0 0 0 0 0 1
Amyotrophic lateral sclerosis type 21 1 0 0 0 0 0 1
Amyotrophic lateral sclerosis type 4 0 0 1 0 0 0 1
Aortic aneurysm 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 10 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 1 0 0 0 0 1
Aortic valve disease 1 0 0 1 0 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 1 0 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 0 0 0 1
Arthrogryposis multiplex congenita 5 0 1 0 0 0 0 1
Arthrogryposis, distal, type 1A 1 0 0 0 0 0 1
Arthrogryposis, distal, type 2B2 0 0 1 0 0 0 1
Arthrogryposis, distal, type 2B3 0 0 1 0 0 0 1
Aspartylglucosaminuria 0 0 1 0 0 0 1
Astigmatism; Autistic behavior; Myopia; Impaired social interactions; Aplasia/Hypoplasia of the inner ear 1 0 0 0 0 0 1
Astigmatism; Congenital ocular coloboma; Patent foramen ovale; Premature birth; Abnormality of the face 0 0 1 0 0 0 1
Ataxia-pancytopenia syndrome 0 1 0 0 0 0 1
Atelosteogenesis type I 0 0 1 0 0 0 1
Atrophia bulborum hereditaria 0 1 0 0 0 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 1 0 0 0 0 0 1
Autism spectrum disorder; Neurodevelopmental disorder; Focal sensory seizure with somatosensory features 0 0 1 0 0 0 1
Autism, susceptibility to, 17 1 0 0 0 0 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 0 0 1
Autism; Bifid uvula; Global developmental delay; Motor delay; Self-injurious behavior; Delayed speech and language development; Abnormality of the dentition; Long neck; Delayed early-childhood social milestone development; Neurodevelopmental delay; Clinodactyly; Long ear 0 1 0 0 0 0 1
Autism; Cerebellar ataxia; Focal-onset seizure; Intellectual disability; Lower limb spasticity; Severe global developmental delay 1 0 0 0 0 0 1
Autism; Hyperopia, high; Intellectual disability, mild; Moderate global developmental delay; Mild microcephaly 1 0 0 0 0 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 1 0 0 0 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 0 0 1
Autoinflammation with arthritis and dyskeratosis 0 0 1 0 0 0 1
Autoinflammation, immune dysregulation, and eosinophilia 0 0 1 0 0 0 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 0 0 1
Autoinflammatory syndrome with immunodeficiency 0 0 1 0 0 0 1
Autosomal dominant Opitz G/BBB syndrome 0 0 1 0 0 0 1
Autosomal dominant Parkinson disease 8 0 0 1 0 0 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 1 0 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 1 0 0 0 0 1
Autosomal dominant hypocalcemia 1 1 0 0 0 0 0 1
Autosomal dominant isolated somatotropin deficiency 0 0 1 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 1 0 0 0 1
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 0 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 10 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 9 0 0 1 0 0 0 1
Autosomal dominant vitreoretinochoroidopathy 1 0 0 0 0 0 1
Autosomal recessive ataxia due to ubiquinone deficiency 0 0 1 0 0 0 1
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 3 1 0 0 0 0 0 1
Autosomal recessive congenital ichthyosis 4A 0 1 0 0 0 0 1
Autosomal recessive early-onset Parkinson disease 23 1 0 0 0 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 12 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 1 0 0 0 0 0 1
Autosomal recessive osteopetrosis 1 1 0 0 0 0 0 1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 0 1 0 0 0 1
Autosomal recessive spastic paraplegia type 78 1 0 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 10 0 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 14 0 0 1 0 0 0 1
Avellino corneal dystrophy 1 0 0 0 0 0 1
BAZ2B-related Neurodevelopmental disorder 0 1 0 0 0 0 1
Baraitser-winter syndrome 2 0 1 0 0 0 0 1
Bardet-Biedl syndrome 1 1 0 0 0 0 0 1
Bardet-Biedl syndrome 7 0 0 1 0 0 0 1
Barrett esophagus 1 0 0 0 0 0 1
Bartsocas-Papas syndrome 1 0 1 0 0 0 0 1
Bartter disease type 1 0 0 1 0 0 0 1
Basal cell carcinoma, susceptibility to, 1 0 0 1 0 0 0 1
Basal ganglia calcification, idiopathic, 5 0 1 0 0 0 0 1
Basal ganglia calcification, idiopathic, 6 0 0 1 0 0 0 1
Benign concentric annular macular dystrophy 0 1 0 0 0 0 1
Benign familial hematuria 0 0 1 0 0 0 1
Benign hereditary chorea 0 1 0 0 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 0 1
Biotinidase deficiency 0 0 0 1 0 0 1
Birt-Hogg-Dube syndrome 1 1 0 0 0 0 0 1
Blau syndrome 0 0 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 0 0 1
Brachycephaly, trichomegaly, and developmental delay 0 0 1 0 0 0 1
Brachycephaly; Microcephaly; Attention deficit hyperactivity disorder 1 0 0 0 0 0 1
Brachydactyly-syndactyly syndrome 1 0 0 0 0 0 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 0 1 0 0 0 1
Brain malformations with or without urinary tract defects 0 0 1 0 0 0 1
Branched-chain keto acid dehydrogenase kinase deficiency 1 0 0 0 0 0 1
Branchiooculofacial syndrome 0 1 0 0 0 0 1
Branchiootic syndrome 3 0 0 1 0 0 0 1
Bruck syndrome 1 0 0 1 0 0 0 1
Brugada syndrome 2 0 0 1 0 0 0 1
Brugada syndrome 5 0 0 1 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 0 1 0 0 0 1
CAPRIN1-associated disorder 0 0 1 0 0 0 1
CBL-related disorder 0 1 0 0 0 0 1
CLAPO syndrome 0 0 1 0 0 0 1
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 1 0 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 0 0 1
Cardiac valvular dysplasia, X-linked 0 1 0 0 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 0 1 0 0 0 1
Cardiac-urogenital syndrome 1 0 0 0 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 0 0 0 0 0 1
Carney complex, type 1 0 1 0 0 0 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 0 1 0 0 0 0 1
Cataract 1 multiple types 0 0 1 0 0 0 1
Cataract 14 multiple types 0 0 1 0 0 0 1
Cataract 15 multiple types 0 0 1 0 0 0 1
Cataract 3 multiple types 0 0 1 0 0 0 1
Cataract 4 multiple types 0 0 1 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 0 0 1 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 0 0 1
Cerebellar ataxia; Febrile seizure (within the age range of 3 months to 6 years); Delayed speech and language development; Tremor; Developmental regression 0 1 0 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 0 0 0 0 1
Cerebral cavernous malformation 2 0 1 0 0 0 0 1
Cerebral cavernous malformation 3 0 0 0 1 0 0 1
Cerebral palsy, spastic quadriplegic, 3 1 0 0 0 0 0 1
Char syndrome 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease X-linked recessive 4 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2L 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate C 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1B 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1C 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 1E 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 4D 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease, axonal, IIa 2II 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2FF 0 0 1 0 0 0 1
Childhood apraxia of speech 0 1 0 0 0 0 1
Childhood hypophosphatasia 1 0 0 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 0 0 1
Cholesteryl ester storage disease 1 0 0 0 0 0 1
Chondrodysplasia Blomstrand type 0 0 1 0 0 0 1
Chromosome 16p11.2 duplication syndrome 1 0 0 0 0 0 1
Chromosome 22q13 duplication syndrome 1 0 0 0 0 0 1
Chromosome 2q37 deletion syndrome 0 0 1 0 0 0 1
Chromosome 3q29 microdeletion syndrome 0 0 1 0 0 0 1
Chromosome 5Q14.3 deletion syndrome, distal 0 1 0 0 0 0 1
Chromosome Xq28 duplication syndrome 1 0 0 0 0 0 1
Chronic kidney disease 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 40 0 0 1 0 0 0 1
Citrullinemia type I 1 0 0 0 0 0 1
Citrullinemia type II 0 1 0 0 0 0 1
Classic homocystinuria 1 0 0 0 0 0 1
Clubfoot 0 1 0 0 0 0 1
Clubfoot; Renal cyst; Abnormality of the face; Cystic renal dysplasia; Abnormal finger morphology 0 0 1 0 0 0 1
Cockayne syndrome type 2 1 0 0 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 6 0 0 1 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 0 1 0 0 1
Colorectal cancer, susceptibility to, 12 0 0 1 0 0 0 1
Colorectal polyposis 0 0 1 0 0 0 1
Combined immunodeficiency due to ZAP70 deficiency 0 0 0 1 0 0 1
Combined immunodeficiency due to moesin deficiency 0 0 1 0 0 0 1
Combined immunodeficiency due to partial RAG1 deficiency 0 1 0 0 0 0 1
Combined immunodeficiency, X-linked 1 0 0 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 0 1 0 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 7 0 1 0 0 0 0 1
Complement component 5 deficiency 0 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 6 0 0 1 0 0 0 1
Cone dystrophy with supernormal rod response 0 0 1 0 0 0 1
Cone-rod dystrophy 7 0 0 1 0 0 0 1
Cone-rod synaptic disorder, congenital nonprogressive 1 0 0 0 0 0 1
Congenital adrenal hypoplasia, X-linked 1 0 0 0 0 0 1
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 0 0 0 0 1 0 1
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 0 0 1 0 0 1
Congenital diarrhea 5 with tufting enteropathy 1 0 0 0 0 0 1
Congenital disorder of deglycosylation 0 0 1 0 0 0 1
Congenital disorder of glycosylation 1 0 0 0 0 0 1
Congenital disorder of glycosylation type Ir 0 0 1 0 0 0 1
Congenital disorder of glycosylation, type Iw, autosomal dominant 0 0 1 0 0 0 1
Congenital disorder of glycosylation, type iit 1 0 0 0 0 0 1
Congenital generalized lipodystrophy type 1 0 1 0 0 0 0 1
Congenital heart defects, multiple types, 6 0 0 1 0 0 0 1
Congenital heart defects, multiple types, 7 0 1 0 0 0 0 1
Congenital hyperammonemia, type I 0 1 0 0 0 0 1
Congenital insensitivity to pain-hypohidrosis syndrome 1 0 0 0 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 0 0 1 0 0 0 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 0 1 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 0 0 1
Congenital myasthenic syndrome 10 1 0 0 0 0 0 1
Congenital myasthenic syndrome 19 1 0 0 0 0 0 1
Congenital myasthenic syndrome 7 0 0 1 0 0 0 1
Congenital myopathy with fiber type disproportion 0 1 0 0 0 0 1
Congenital stationary night blindness 1C 0 1 0 0 0 0 1
Cornelia de Lange syndrome 4 0 0 1 0 0 0 1
Coronary heart disease, susceptibility to, 5 0 0 1 0 0 0 1
Cortical dysplasia-focal epilepsy syndrome 0 1 0 0 0 0 1
Corticosterone 18-monooxygenase deficiency 0 1 0 0 0 0 1
Costello syndrome 0 0 1 0 0 0 1
Coxopodopatellar syndrome 0 0 1 0 0 0 1
Craniofrontonasal syndrome 0 1 0 0 0 0 1
Craniosynostosis 4 0 0 1 0 0 0 1
Crouzon syndrome 1 0 0 0 0 0 1
Crouzon syndrome-acanthosis nigricans syndrome 1 0 0 0 0 0 1
Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 1 0 0 0 0 1
Curry-Hall syndrome 0 1 0 0 0 0 1
Cutis laxa, autosomal dominant 1 0 0 1 0 0 0 1
Cutis laxa, autosomal dominant 2 0 0 0 0 1 0 1
Cutis laxa, autosomal dominant 3 1 0 0 0 0 0 1
Cystic leukoencephalopathy without megalencephaly 1 0 0 0 0 0 1
DICER1-related tumor predisposition 0 1 0 0 0 0 1
DNA ligase IV deficiency 0 0 1 0 0 0 1
DOCK2 deficiency 0 0 1 0 0 0 1
DOORS syndrome 0 1 0 0 0 0 1
Dalmatian hypouricemia 0 0 1 0 0 0 1
Danon disease 0 0 1 0 0 0 1
Deafness dystonia syndrome 0 1 0 0 0 0 1
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 0 1 0 0 0 1
Deafness-lymphedema-leukemia syndrome 0 0 1 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 0 0 0 1
Deficiency of ferroxidase 0 0 0 1 0 0 1
Deficiency of ribose-5-phosphate isomerase 0 0 1 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 1 0 0 0 1
Delayed ability to walk 0 1 0 0 0 0 1
Delayed gross motor development; Mild expressive language delay 0 1 0 0 0 0 1
Delayed speech and language development; Hyperlipoproteinemia; Facial hypotonia; Intellectual disability, borderline; Oral motor hypotonia; Mild microcephaly 0 0 1 0 0 0 1
Delayed speech and language development; Severe global developmental delay 1 0 0 0 0 0 1
Deletion of short arm of chromosome 18 1 0 0 0 0 0 1
Dermatitis, atopic, 2 1 0 0 0 0 0 1
Desmin-related myofibrillar myopathy 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 112 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 96 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy 98 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 21 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 23 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 25 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 29 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 37 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 39 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 47 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 51 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 56 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 60 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 67 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 70 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 72 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 76 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 78 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 87 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy-107 1 0 0 0 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 0 1 0 0 0 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 1 0 0 0 0 0 1
Diabetes-deafness syndrome maternally transmitted 1 0 0 0 0 0 1
Diaphragmatic hernia 3 0 0 1 0 0 0 1
Diets-Jongmans syndrome 0 0 1 0 0 0 1
Dilated cardiomyopathy 1CC 0 0 1 0 0 0 1
Dilated cardiomyopathy 1EE 0 0 1 0 0 0 1
Dilated cardiomyopathy 1GG 0 0 0 1 0 0 1
Dilated cardiomyopathy 1HH 1 0 0 0 0 0 1
Dilated cardiomyopathy 1I 0 1 0 0 0 0 1
Dilated cardiomyopathy 1NN 0 0 1 0 0 0 1
Distal 10q deletion syndrome 1 0 0 0 0 0 1
Distal 7q11.23 microdeletion syndrome 1 0 0 0 0 0 1
Distal arthrogryposis type 2B1 0 0 1 0 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 0 0 1
Donnai-Barrow syndrome 0 0 1 0 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 0 1 0 0 0 1
Dowling-Degos disease 1 0 0 1 0 0 0 1
Dyggve-Melchior-Clausen syndrome 1 0 0 0 0 0 1
Dyskeratosis congenita, autosomal dominant 2 0 0 1 0 0 0 1
Dystonia 30 0 0 1 0 0 0 1
EAST syndrome 0 0 1 0 0 0 1
EEG abnormality; Coarse facial features; Delayed speech and language development; Intellectual disability, mild; Precocious puberty in females; Delayed fine motor development; Primary microcephaly 0 1 0 0 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 0 1 0 0 0 1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 1 0 0 0 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 1 0 0 0 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, periodontal type 2 0 0 1 0 0 0 1
Ehlers-danlos syndrome, arthrochalasia type, 2 0 0 1 0 0 0 1
Ellis-van Creveld syndrome 0 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 1 0 0 0 0 1
Encephalopathy, acute, infection-induced, susceptibility to, 4 0 0 1 0 0 0 1
Enterokinase deficiency 0 0 1 0 0 0 1
Ependymoma 0 1 0 0 0 0 1
Epicanthus; Inversion of nipple; Cerebellar ataxia; Atypical behavior; Focal-onset seizure; Hypermetropia; Pes planus; Short philtrum; Macrocephaly; Generalized-onset seizure; Moderate global developmental delay 0 1 0 0 0 0 1
Epidermolysis bullosa simplex 1C, localized 0 0 0 1 0 0 1
Epilepsy, childhood absence, susceptibility to, 5 0 0 1 0 0 0 1
Epilepsy, familial adult myoclonic, 7 0 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 16 0 0 1 0 0 0 1
Epilepsy, juvenile myoclonic, susceptibility to, 10 0 0 1 0 0 0 1
Epilepsy, progressive myoclonic, 1B 0 0 1 0 0 0 1
Epiphyseal dysplasia, multiple, 2 0 0 1 0 0 0 1
Episodic kinesigenic dyskinesia 1 1 0 0 0 0 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 0 0 1
Exercise-induced hyperinsulinism 0 0 1 0 0 0 1
Exostoses, multiple, type 2 1 0 0 0 0 0 1
Exudative vitreoretinopathy 1 1 0 0 0 0 0 1
Exudative vitreoretinopathy 5 0 1 0 0 0 0 1
FRYL-associated neurodevelopmental disorder 1 0 0 0 0 0 1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 1 0 0 0 0 1
Facioscapulohumeral muscular dystrophy 2 1 0 0 0 0 0 1
Failure to thrive; Microcephaly; Pes cavus; Proportionate short stature; Pes valgus; Moderate global developmental delay; Concomitant strabismus 0 0 1 0 0 0 1
Failure to thrive; Vomiting; High palate; Anemia; Diarrhea; Axial hypotonia; Macrotia; Moderate global developmental delay; Elevated circulating alanine aminotransferase concentration; Elevated circulating aspartate aminotransferase concentration 0 0 1 0 0 0 1
Familial amyloid neuropathy 0 1 0 0 0 0 1
Familial encephalopathy with neuroserpin inclusion bodies 0 0 1 0 0 0 1
Familial episodic pain syndrome with predominantly lower limb involvement 1 0 0 0 0 0 1
Familial expansile osteolysis 0 0 1 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 0 0 1
Familial hypobetalipoproteinemia 1 1 0 0 0 0 0 1
Familial hypocalciuric hypercalcemia 3 1 0 0 0 0 0 1
Familial multiple nevi flammei 0 1 0 0 0 0 1
Familial porphyria cutanea tarda 1 0 0 0 0 0 1
Familial renal glucosuria 0 0 1 0 0 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 0 1 0 0 0 1
Familial temporal lobe epilepsy 5 0 0 1 0 0 0 1
Familial visceral amyloidosis, Ostertag type 0 0 1 0 0 0 1
Fanconi anemia complementation group A 1 0 0 0 0 0 1
Fanconi anemia complementation group B 0 0 1 0 0 0 1
Fanconi anemia complementation group C 1 0 0 0 0 0 1
Fanconi anemia complementation group G 1 0 0 0 0 0 1
Fanconi anemia complementation group J 0 0 1 0 0 0 1
Fanconi anemia, complementation group S 1 0 0 0 0 0 1
Fanconi-Bickel syndrome 1 0 0 0 0 0 1
Fatty acyl-CoA reductase 1 deficiency 0 1 0 0 0 0 1
Faundes-Banka syndrome 0 0 1 0 0 0 1
Feingold syndrome type 1 0 1 0 0 0 0 1
Fibrosis, neurodegeneration, and cerebral angiomatosis 0 0 1 0 0 0 1
Filippi syndrome 1 0 0 0 0 0 1
Finnish congenital nephrotic syndrome 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis 1 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis 5 1 0 0 0 0 0 1
Focal segmental glomerulosclerosis 6 0 0 1 0 0 0 1
Focal-onset seizure; Intellectual disability 0 1 0 0 0 0 1
Focal-onset seizure; Moderate global developmental delay; Epileptic encephalopathy 0 1 0 0 0 0 1
Focal-onset seizure; Severe global developmental delay; Epileptic encephalopathy 0 1 0 0 0 0 1
Frank-Ter Haar syndrome 1 0 0 0 0 0 1
Frontometaphyseal dysplasia 2 0 0 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 0 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 0 1 0 0 0 1
Fucosidosis 1 0 0 0 0 0 1
GABBR1-associated neurodevelopmental disorder 0 0 1 0 0 0 1
GIGYF1-associated disorder 0 1 0 0 0 0 1
GM1 gangliosidosis type 2 0 0 1 0 0 0 1
GNE myopathy 0 1 0 0 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 0 0 1 0 0 0 1
Gabriele de Vries syndrome 0 1 0 0 0 0 1
Gastrointestinal stromal tumor 1 0 0 0 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 1 0 0 0 1
Generalized juvenile polyposis/juvenile polyposis coli 1 0 0 0 0 0 1
Generalized non-motor (absence) seizure 0 0 1 0 0 0 1
Generalized-onset seizure 0 1 0 0 0 0 1
Generalized-onset seizure; Epileptic encephalopathy 0 0 1 0 0 0 1
Gilbert syndrome 1 0 0 0 0 0 1
Gingival fibromatosis-hypertrichosis syndrome 0 0 0 1 0 0 1
Global developmental delay with speech and behavioral abnormalities 1 0 0 0 0 0 1
Global developmental delay; Motor delay; Atypical behavior; Delayed speech and language development; Intellectual disability 0 1 0 0 0 0 1
Global developmental delay; Seizure 0 0 1 0 0 0 1
Global developmental delay; Seizure; Microcephaly; Large for gestational age; Hypotonia 0 1 0 0 0 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 0 0 0 1
Glycogen storage disease IXb 0 0 1 0 0 0 1
Glycogen storage disease IXd 0 0 1 0 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 0 0 1
Glycogen storage disease, type VI 0 0 1 0 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 16 0 0 1 0 0 0 1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome 1 0 0 0 0 0 1
Gordon syndrome 0 1 0 0 0 0 1
Griscelli syndrome type 1 0 0 1 0 0 0 1
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 0 1 0 0 0 1
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 0 0 1 0 0 0 1
HMGB1-associated disorder 0 1 0 0 0 0 1
Hao-Fountain syndrome 0 0 1 0 0 0 1
Hartsfield-Bixler-Demyer syndrome 0 0 1 0 0 0 1
Hawkinsinuria 0 0 1 0 0 0 1
Hearing loss, X-linked 4 0 1 0 0 0 0 1
Hearing loss, X-linked 6 0 0 0 1 0 0 1
Hearing loss, autosomal dominant 37 0 0 1 0 0 0 1
Hecht syndrome 0 0 1 0 0 0 1
Heimler syndrome 1 0 0 0 1 0 0 1
Heimler syndrome 2 0 0 1 0 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 6 0 0 1 0 0 0 1
Hereditary acrodermatitis enteropathica 0 0 1 0 0 0 1
Hereditary cerebral amyloid angiopathy, Icelandic type 0 0 1 0 0 0 1
Hereditary cryohydrocytosis with reduced stomatin 1 0 0 0 0 0 1
Hereditary liability to pressure palsies 1 0 0 0 0 0 1
Hereditary nonpolyposis colorectal neoplasms 1 0 0 0 0 0 1
Hereditary spastic paraplegia 15 0 0 1 0 0 0 1
Hereditary spastic paraplegia 30 0 1 0 0 0 0 1
Hereditary spastic paraplegia 31 0 0 1 0 0 0 1
Hereditary spastic paraplegia 35 0 0 1 0 0 0 1
Hereditary spastic paraplegia 3A 0 0 1 0 0 0 1
Hereditary spastic paraplegia 43 0 0 0 1 0 0 1
Hereditary spastic paraplegia 50 1 0 0 0 0 0 1
Hereditary spastic paraplegia 54 0 0 1 0 0 0 1
Hereditary spastic paraplegia 55 0 1 0 0 0 0 1
Hereditary spastic paraplegia 5A 1 0 0 0 0 0 1
Hereditary spastic paraplegia 6 0 0 0 0 1 0 1
Hereditary spastic paraplegia 73 0 0 0 1 0 0 1
Hereditary spastic paraplegia 9A 0 0 1 0 0 0 1
Hereditary spherocytosis type 2 0 0 1 0 0 0 1
Hermansky-Pudlak syndrome 1 1 0 0 0 0 0 1
Heterotaxy, visceral, 1, X-linked 0 0 0 0 1 0 1
Hidrotic ectodermal dysplasia syndrome 1 0 0 0 0 0 1
High density lipoprotein cholesterol level quantitative trait locus 12 0 0 1 0 0 0 1
Holoprosencephaly 2 0 0 1 0 0 0 1
Holoprosencephaly 5 0 0 1 0 0 0 1
Huntington disease-like 2 0 0 1 0 0 0 1
Hurler syndrome 0 0 1 0 0 0 1
Hutchinson-Gilford syndrome 0 0 1 0 0 0 1
Hyper-IgM syndrome type 1 1 0 0 0 0 0 1
Hyperaldosteronism 0 0 0 0 1 0 1
Hyperekplexia 1 1 0 0 0 0 0 1
Hyperglycinuria 0 0 1 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 1 0 0 0 1
Hyperkalemic periodic paralysis 1 0 0 0 0 0 1
Hyperparathyroidism 1 0 0 1 0 0 0 1
Hyperparathyroidism 2 with jaw tumors 1 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Growth delay; Abnormal facial shape; Small face; Wide mouth; Infantile muscular hypotonia; Short finger 1 0 0 0 0 0 1
Hypertelorism; Motor delay; Short stature; Macrocephaly; Exocrine pancreatic insufficiency; Large forehead; Disproportionate short stature; Limb undergrowth 0 0 1 0 0 0 1
Hypertriglyceridemia 1 0 0 1 0 0 0 1
Hypertriglyceridemia 2 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 2 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 20 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 25 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 3 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 6 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 16 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 0 0 0 1
Hypogonadotropic hypogonadism 6 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 1 0 0 0 0 0 1
Hypogonadotropic hypogonadism 9 with or without anosmia 0 0 1 0 0 0 1
Hypomagnesemia, seizures, and intellectual disability 1 0 1 0 0 0 0 1
Hypomyelinating leukodystrophy 11 0 0 1 0 0 0 1
Hypomyelinating leukodystrophy 12 0 0 1 0 0 0 1
Hypomyelinating leukodystrophy 4 0 0 1 0 0 0 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 0 1 0 0 0 1
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 0 1 0 0 0 1
Hypopigmentation-punctate palmoplantar keratoderma syndrome 0 0 1 0 0 0 1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 0 0 1 0 0 0 1
Hypospadias 2, X-linked 0 0 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 0 0 0 1
Ichthyosis, hystrix-like, with hearing loss 1 0 0 0 0 0 1
Idiopathic basal ganglia calcification 1 1 0 0 0 0 0 1
Idiopathic generalized epilepsy 0 0 1 0 0 0 1
Immune deficiency, familial variable 1 0 0 0 0 0 1
Immunodeficiency 11b with atopic dermatitis 0 0 1 0 0 0 1
Immunodeficiency 14 0 0 1 0 0 0 1
Immunodeficiency 19 1 0 0 0 0 0 1
Immunodeficiency 32B 0 0 1 0 0 0 1
Immunodeficiency 36 0 0 1 0 0 0 1
Immunodeficiency 64 0 0 1 0 0 0 1
Immunodeficiency, common variable, 10 0 1 0 0 0 0 1
Imperforate anus; Short stature; Ectopic posterior pituitary; Central hypothyroidism; Hypopituitarism; Abnormal growth hormone level 0 0 1 0 0 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 1 0 0 0 0 1
Increased nuchal translucency 0 1 0 0 0 0 1
Increased susceptibility to fractures 1 0 0 0 0 0 1
Infantile cerebellar-retinal degeneration 0 0 1 0 0 0 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 0 1 0 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 0 0 0 1
Infantile liver failure syndrome 1 1 0 0 0 0 0 1
Infantile neuroaxonal dystrophy 1 0 0 0 0 0 1
Inherited Creutzfeldt-Jakob disease 0 0 0 1 0 0 1
Inherited obesity 0 0 1 0 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 0 1 0 0 0 1
Intellectual developmental disorder 60 with seizures 0 0 1 0 0 0 1
Intellectual developmental disorder 61 0 0 1 0 0 0 1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1 0 0 0 0 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 0 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 0 0 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 1 0 0 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 0 0 0 0 1
Intellectual developmental disorder with severe speech and ambulation defects 1 0 0 0 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 1 0 0 0 0 0 1
Intellectual developmental disorder, X-linked 111 0 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 1 0 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 72 1 0 0 0 0 0 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 0 0 0 1
Intellectual developmental disorder, autosomal recessive 70 0 0 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 71 0 0 1 0 0 0 1
Intellectual disability, X-linked 103 0 0 1 0 0 0 1
Intellectual disability, X-linked 106 0 0 1 0 0 0 1
Intellectual disability, X-linked 107 0 1 0 0 0 0 1
Intellectual disability, X-linked 30 0 0 0 1 0 0 1
Intellectual disability, X-linked 96 0 0 1 0 0 0 1
Intellectual disability, X-linked 97 0 0 1 0 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic 33 0 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 1 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 47 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 51 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 52 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 2 1 0 0 0 0 0 1
Intellectual disability, autosomal recessive 24 1 0 0 0 0 0 1
Intellectual disability, autosomal recessive 27 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 53 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 65 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 66 1 0 0 0 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 1 0 0 0 0 1
Intellectual disability-strabismus syndrome 0 0 1 0 0 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 0 1 0 0 0 1
Isolated cleft palate 0 0 1 0 0 0 1
Isolated thyroid-stimulating hormone deficiency 0 0 1 0 0 0 1
Jervell and Lange-Nielsen syndrome 1 0 0 1 0 0 0 1
Johanson-Blizzard syndrome 0 0 0 1 0 0 1
Joubert syndrome 10 0 0 0 1 0 0 1
Joubert syndrome 21 0 0 1 0 0 0 1
Joubert syndrome with renal defect 0 0 1 0 0 0 1
Juvenile polyposis syndrome 0 1 0 0 0 0 1
Kartagener syndrome 0 0 1 0 0 0 1
Kell blood group system 1 0 0 0 0 0 1
Keratosis follicularis 0 1 0 0 0 0 1
Ketoacidosis due to monocarboxylate transporter-1 deficiency 0 0 1 0 0 0 1
Klippel-Feil syndrome 1, autosomal dominant 0 0 1 0 0 0 1
Klippel-Feil syndrome 3, autosomal dominant 0 1 0 0 0 0 1
Kniest dysplasia 0 0 1 0 0 0 1
Kury-Isidor syndrome 1 0 0 0 0 0 1
Lafora disease 0 0 0 1 0 0 1
Late-onset retinal degeneration 1 0 0 0 0 0 1
Leber congenital amaurosis 8 0 0 1 0 0 0 1
Legius syndrome 0 1 0 0 0 0 1
Lessel-Kreienkamp syndrome 0 1 0 0 0 0 1
Lethal congenital contracture syndrome 11 0 1 0 0 0 0 1
Leucine-induced hypoglycemia 0 1 0 0 0 0 1
Leukodystrophy and acquired microcephaly with or without dystonia; 0 0 1 0 0 0 1
Leukodystrophy, hypomyelinating, 14 0 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 18 1 0 0 0 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 0 0 0 1 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 0 1 0 0 0 0 1
Liang-Wang syndrome 0 0 1 0 0 0 1
Lipoprotein glomerulopathy 0 0 1 0 0 0 1
Lissencephaly 8 0 1 0 0 0 0 1
Loeys-Dietz syndrome 1 0 1 0 0 0 0 1
Loeys-Dietz syndrome 2 0 1 0 0 0 0 1
Lowe syndrome 0 1 0 0 0 0 1
Luo-Schoch-Yamamoto syndrome 0 0 1 0 0 0 1
Lysinuric protein intolerance 1 0 0 0 0 0 1
Lysosomal acid lipase deficiency 1 0 0 0 0 0 1
MASA syndrome 0 1 0 0 0 0 1
MERRF syndrome 0 1 0 0 0 0 1
MYCBP2-associated disorder 0 0 1 0 0 0 1
Macrocephaly-developmental delay syndrome 0 0 1 0 0 0 1
Macroglossia; Global developmental delay; Short 5th finger; Abnormality of the face 0 1 0 0 0 0 1
Macroscopic hematuria 0 0 1 0 0 0 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 0 1 0 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 0 1 0 0 0 1
Macular dystrophy with central cone involvement 1 0 0 0 0 0 1
Malignant tumor of prostate 1 0 0 0 0 0 1
Marinesco-Sjögren syndrome 0 0 1 0 0 0 1
Marshall-Smith syndrome 1 0 0 0 0 0 1
Maternally-inherited spastic paraplegia 1 0 0 0 0 0 1
Maturity-onset diabetes of the young type 13 0 0 1 0 0 0 1
Meckel syndrome, type 4 1 0 0 0 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 1 0 0 0 0 0 1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 0 1 0 0 0 0 1
Meier-Gorlin syndrome 4 0 0 0 1 0 0 1
Merosin deficient congenital muscular dystrophy 1 0 0 0 0 0 1
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 1 0 0 0 0 0 1
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 1 0 0 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 0 0 0 0 1
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 1 0 0 0 1
Microcephaly 1, primary, autosomal recessive 0 1 0 0 0 0 1
Microcephaly 26, primary, autosomal dominant 1 0 0 0 0 0 1
Microcephaly 7, primary, autosomal recessive 0 0 1 0 0 0 1
Microcephaly and chorioretinopathy 3 0 1 0 0 0 0 1
Microcephaly, normal intelligence and immunodeficiency 1 0 0 0 0 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 0 0 1 0 0 0 1
Migraine with or without aura, susceptibility to, 1 0 0 1 0 0 0 1
Migraine; Hereditary episodic ataxia 0 0 1 0 0 0 1
Mild short stature 0 0 1 0 0 0 1
Mirror movements 1 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 11 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 16 (hepatic type) 0 0 1 0 0 0 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP 1 0 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 19 0 0 1 0 0 0 1
Mitochondrial complex 2 deficiency, nuclear type 2 0 1 0 0 0 0 1
Mitochondrial disease 1 0 0 0 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 0 1 0 0 0 1
Mitral valve prolapse, myxomatous 2 0 0 1 0 0 0 1
Monocytopenia with susceptibility to infections 0 0 1 0 0 0 1
Moyamoya disease with early-onset achalasia 0 0 1 0 0 0 1
Mucocutaneous ulceration, chronic 0 0 1 0 0 0 1
Mucolipidosis type II 0 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-C 1 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-D 0 0 1 0 0 0 1
Muenke syndrome 1 0 0 0 0 0 1
Muir-Torré syndrome 0 0 1 0 0 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 0 0 0 1
Multiple epiphyseal dysplasia type 1 0 0 1 0 0 0 1
Multiple epiphyseal dysplasia type 4 1 0 0 0 0 0 1
Muscle eye brain disease 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 0 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 1 0 0 0 0 0 1
Myasthenic syndrome, congenital, 22 0 1 0 0 0 0 1
Myelodysplastic syndrome 0 1 0 0 0 0 1
Myeloperoxidase deficiency 0 1 0 0 0 0 1
Myoclonic-atonic epilepsy 1 0 0 0 0 0 1
Myoclonus, intractable, neonatal 0 0 1 0 0 0 1
Myofibrillar myopathy 2 0 0 1 0 0 0 1
Myofibrillar myopathy 5 1 0 0 0 0 0 1
Myopathy, centronuclear, 2 0 0 1 0 0 0 1
Myopathy, congenital, with tremor 0 1 0 0 0 0 1
Myopathy, distal, 6, adult-onset, autosomal dominant 0 0 1 0 0 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 0 0 0 1
Myopia 24, autosomal dominant 0 1 0 0 0 0 1
NEK9-related lethal skeletal dysplasia 0 0 0 1 0 0 1
Nager syndrome 1 0 0 0 0 0 1
Nephrotic syndrome, type 4 0 0 1 0 0 0 1
Neu-Laxova syndrome 1 1 0 0 0 0 0 1
Neurodegeneration with ataxia and late-onset optic atrophy 0 0 1 0 0 0 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 0 1 0 0 0 1
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 1 0 0 0 0 0 1
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 0 0 1 0 0 0 1
Neurodevelopmental disorder with absent language and variable seizures 1 0 0 0 0 0 1
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 0 1 0 0 0 0 1
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 1 0 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures 0 0 1 0 0 0 1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 0 1 0 0 0 1
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 0 1 0 0 0 1
Neurodevelopmental disorder with involuntary movements 0 1 0 0 0 0 1
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 0 1 0 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 0 0 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 1 0 0 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 1 0 0 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 0 1 0 0 0 1
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 0 1 0 0 0 0 1
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 1 0 0 0 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 1 0 0 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 1 0 0 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 2 0 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 3 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 0 1 0 0 0 1
Neuroocular syndrome 0 1 0 0 0 0 1
Neurooculocardiogenitourinary syndrome 1 0 0 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1A 0 0 1 0 0 0 1
Noonan syndrome 12 0 0 1 0 0 0 1
Noonan syndrome 5 0 0 1 0 0 0 1
Noonan syndrome 8 0 1 0 0 0 0 1
Noonan syndrome 9 0 0 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 1 0 0 0 0 1
Norman-Roberts syndrome 0 0 1 0 0 0 1
Nystagmus 1, congenital, X-linked 0 1 0 0 0 0 1
Obesity due to SIM1 deficiency 0 0 1 0 0 0 1
Obesity due to leptin receptor gene deficiency 0 1 0 0 0 0 1
Obesity due to pro-opiomelanocortin deficiency 0 0 1 0 0 0 1
Obesity, hyperphagia, and developmental delay 0 0 1 0 0 0 1
Obesity; Failure to thrive; Abnormal foot morphology; Intellectual disability; Impulsivity 1 0 0 0 0 0 1
Obesity; Generalized-onset seizure; Mild global developmental delay 0 0 1 0 0 0 1
Obesity; Neurodevelopmental delay 0 0 1 0 0 0 1
Occipital pachygyria and polymicrogyria 1 0 0 0 0 0 1
Occult macular dystrophy 0 0 1 0 0 0 1
Ocular albinism, type I 1 0 0 0 0 0 1
Ocular albinism, type II 1 0 0 0 0 0 1
Oculocutaneous albinism type 1B 1 0 0 0 0 0 1
Oculomotor apraxia; Situs inversus 0 0 1 0 0 0 1
Optic atrophy 0 1 0 0 0 0 1
Optic atrophy 13 with retinal and foveal abnormalities 1 0 0 0 0 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 0 1 0 0 0 1
Orofacial cleft 11 0 0 1 0 0 0 1
Osteogenesis imperfecta type 15 0 0 1 0 0 0 1
Osteogenesis imperfecta type 7 0 0 1 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 0 0 0 1
PGM1-congenital disorder of glycosylation 0 1 0 0 0 0 1
PLIN1-related familial partial lipodystrophy 0 0 1 0 0 0 1
PPFIA3-associated neurodevelopmental disorder 0 1 0 0 0 0 1
PRRT2 insufficiency 1 0 0 0 0 0 1
PTPN4-associated disorder 0 0 1 0 0 0 1
Pachygyria; Cerebral ischemia; Moderate global developmental delay; Hypotonia 0 0 1 0 0 0 1
Paget disease of bone 3 1 0 0 0 0 0 1
Palmoplantar keratoderma i, striate, focal, or diffuse 0 0 1 0 0 0 1
Palmoplantar keratoderma, punctate type 1A 1 0 0 0 0 0 1
Pancreatic cancer, susceptibility to, 2 1 0 0 0 0 0 1
Pancreatic cancer, susceptibility to, 3 1 0 0 0 0 0 1
Pancytopenia due to IKZF1 mutations 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 1 0 0 1
Paragangliomas 1 0 1 0 0 0 0 1
Paragangliomas 3 0 1 0 0 0 0 1
Paragangliomas 5 1 0 0 0 0 0 1
Paramyotonia congenita of Von Eulenburg 0 0 1 0 0 0 1
Parastremmatic dwarfism 1 0 0 0 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 1 0 0 0 1
Partial androgen insensitivity syndrome 0 0 1 0 0 0 1
Patterned macular dystrophy 1 1 0 0 0 0 0 1
Peeling skin syndrome 6 0 0 0 0 1 0 1
Pelizaeus-Merzbacher disease 0 0 1 0 0 0 1
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 1 0 0 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 1 0 0 0 1
Perlman syndrome 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 2B 0 0 1 0 0 0 1
Perrault syndrome 4 0 0 1 0 0 0 1
Perry syndrome 0 0 1 0 0 0 1
Pfeiffer syndrome 0 0 1 0 0 0 1
Phosphoribosylpyrophosphate synthetase superactivity 0 0 1 0 0 0 1
Pigmentary retinal dystrophy 1 0 0 0 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 0 0 1
Pitt-Hopkins-like syndrome 2 1 0 0 0 0 0 1
Pituitary hormone deficiency, combined, 1 0 0 1 0 0 0 1
Pityriasis rubra pilaris 0 0 1 0 0 0 1
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 1 0 0 0 0 1
Platelet-type bleeding disorder 10 1 0 0 0 0 0 1
Polycystic kidney disease 2 0 0 1 0 0 0 1
Polycystic liver disease 1 0 0 0 1 0 0 1
Polydactyly, postaxial, type A9 1 0 0 0 0 0 1
Polyneuropathy 0 0 1 0 0 0 1
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 0 1 0 0 0 1
Pontocerebellar hypoplasia type 10 1 0 0 0 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 0 0 1
Pontocerebellar hypoplasia type 2A 1 0 0 0 0 0 1
Pontocerebellar hypoplasia type 4 0 0 1 0 0 0 1
Pontocerebellar hypoplasia, type 2F 0 1 0 0 0 0 1
Potocki-Lupski syndrome 1 0 0 0 0 0 1
Premature ovarian failure 15 0 0 0 0 1 0 1
Premature ovarian failure 2A 0 0 0 1 0 0 1
Primary ciliary dyskinesia 14 0 0 1 0 0 0 1
Primary ciliary dyskinesia 7 1 0 0 0 0 0 1
Primary hypomagnesemia 0 0 1 0 0 0 1
Primary myelofibrosis 1 0 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0 1 0 0 0 0 1
Propionic acidemia 1 0 0 0 0 0 1
Prostate cancer, hereditary, 1 0 0 1 0 0 0 1
Prostate cancer/brain cancer susceptibility 0 0 0 1 0 0 1
Pseudohypoaldosteronism type 2E 1 0 0 0 0 0 1
Pseudohypoparathyroidism type 1B 0 0 1 0 0 0 1
Pulmonary alveolar proteinosis with hypogammaglobulinemia 0 0 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 1 0 0 0 0 0 1
Pyruvate kinase deficiency of red cells 1 0 0 0 0 0 1
RASopathy 0 0 1 0 0 0 1
RFX3-associated neurodevelopmental disorder 0 1 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 0 1
Rafiq syndrome 1 0 0 0 0 0 1
Recurrent infections 0 0 1 0 0 0 1
Recurrent respiratory infections; Recurrent infections of the middle ear 0 0 1 0 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 0 0 1
Renal neoplasm 0 1 0 0 0 0 1
Renal tubular acidosis, distal, 4, with hemolytic anemia 0 1 0 0 0 0 1
Renal tubular dysgenesis of genetic origin 1 0 0 0 0 0 1
Renpenning syndrome 0 0 1 0 0 0 1
Retinal macular dystrophy type 2 0 0 1 0 0 0 1
Retinitis pigmentosa 10 0 0 1 0 0 0 1
Retinitis pigmentosa 19 1 0 0 0 0 0 1
Retinitis pigmentosa 30 0 0 1 0 0 0 1
Retinitis pigmentosa 31 0 1 0 0 0 0 1
Retinitis pigmentosa 44 0 1 0 0 0 0 1
Retinitis pigmentosa 45 0 1 0 0 0 0 1
Retinitis pigmentosa 60 0 0 1 0 0 0 1
Retinitis pigmentosa 62 0 0 1 0 0 0 1
Retinitis pigmentosa 76 0 0 1 0 0 0 1
Retinitis pigmentosa 89 0 0 0 1 0 0 1
Ritscher-Schinzel syndrome 1 0 0 1 0 0 0 1
Ritscher-Schinzel syndrome 4 0 0 1 0 0 0 1
SH2B1-associated disorder 0 0 1 0 0 0 1
SHANK1-associated neurodevelopmental disorder 0 0 1 0 0 0 1
SHORT syndrome 0 1 0 0 0 0 1
SHOX-related short stature 0 1 0 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 0 1 0 0 0 1
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0 0 1 0 0 0 1
SLC39A8-CDG 0 1 0 0 0 0 1
SP9-associated disorder 1 0 0 0 0 0 1
Sarcoma 0 0 1 0 0 0 1
Schizophrenia 1 0 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 0 1
Schwartz-Jampel syndrome 0 0 0 1 0 0 1
Schwartz-Jampel syndrome type 1 0 0 1 0 0 0 1
Seckel syndrome 6 0 0 0 0 1 0 1
Seizure; Failure to thrive; Constipation; Spasticity; Microcephaly; Intellectual disability; Severe global developmental delay; Hypotonia 1 0 0 0 0 0 1
Seizure; Self-injurious behavior; Tremor; Intellectual disability, severe; Severe global developmental delay 1 0 0 0 0 0 1
Sensorineural hearing loss disorder; Short stature; Hearing impairment; Epiphyseal dysplasia; Flattened epiphysis; Disproportionate short stature; Craniofacial asymmetry; Ventricular septal defect 1 0 0 0 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 0 1 0 0 0 1
Severe X-linked myotubular myopathy 0 0 1 0 0 0 1
Severe combined immunodeficiency due to CARMIL2 deficiency 0 1 0 0 0 0 1
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 0 1 0 0 0 1
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 0 0 1 0 0 0 1
Short stature 0 1 0 0 0 0 1
Short stature due to growth hormone secretagogue receptor deficiency 0 0 1 0 0 0 1
Short stature due to partial GHR deficiency 0 0 1 0 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 0 0 0 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 0 0 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 1 0 0 0 1
Short stature; Microcephaly; Intellectual disability, mild 0 1 0 0 0 0 1
Short stature; Microcephaly; Sparse scalp hair; Generalized hypopigmentation; High myopia 0 0 1 0 0 0 1
Short stature; Microtia; Microretrognathia; 2-3 finger syndactyly; Hypercholesterolemia; Decreased body weight; Round ear 1 0 0 0 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 0 0 1
Sick sinus syndrome 2, autosomal dominant 1 0 0 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 0 1 0 0 0 1
Silver-russell syndrome 4 0 0 1 0 0 0 1
Sitosterolemia 2 0 0 1 0 0 0 1
Spastic ataxia 5 0 0 1 0 0 0 1
Spastic paraparesis 0 0 1 0 0 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 1 0 0 0 0 0 1
Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 0 1 0 0 0 1
Spastic tetraplegia 0 0 1 0 0 0 1
Specific granule deficiency 1 0 1 0 0 0 0 1
Specific learning disability 1 0 0 0 0 0 1
Spinocerebellar ataxia 43 0 0 1 0 0 0 1
Spinocerebellar ataxia 46 0 0 1 0 0 0 1
Spinocerebellar ataxia 47 0 0 1 0 0 0 1
Spinocerebellar ataxia type 1 0 0 0 1 0 0 1
Spinocerebellar ataxia type 17 1 0 0 0 0 0 1
Spinocerebellar ataxia type 19/22 0 1 0 0 0 0 1
Spinocerebellar ataxia type 27 0 0 1 0 0 0 1
Spinocerebellar ataxia type 28 0 0 1 0 0 0 1
Spinocerebellar ataxia type 29 0 1 0 0 0 0 1
Spinocerebellar ataxia type 35 0 0 1 0 0 0 1
Spinocerebellar ataxia type 40 0 0 1 0 0 0 1
Spinocerebellar ataxia type 6 0 1 0 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 28 0 0 1 0 0 0 1
Spondylocostal dysostosis 2, autosomal recessive 1 0 0 0 0 0 1
Spondylocostal dysostosis 3, autosomal recessive 0 0 1 0 0 0 1
Spondyloenchondrodysplasia with immune dysregulation 0 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Missouri type 0 0 1 0 0 0 1
Spondyloepiphyseal dysplasia, Kimberley type 0 0 1 0 0 0 1
Spondyloepiphyseal dysplasia, Stanescu type 0 0 0 0 1 0 1
Spondyloperipheral dysplasia 1 0 0 0 0 0 1
Status epilepticus; Microcephaly; Atonic seizure 0 0 1 0 0 0 1
Status epilepticus; Seizure; Complex febrile seizure 0 1 0 0 0 0 1
Subcutaneous panniculitis-like T-cell lymphoma 0 1 0 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 0 1 0 0 0 0 1
Sucrase-isomaltase deficiency 0 0 1 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 1 0 0 0 0 0 1
Supravalvar aortic stenosis 0 1 0 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 4 0 0 0 0 1 0 1
Symmetrical dyschromatosis of extremities 0 0 1 0 0 0 1
Syndromic X-linked intellectual disability 34 0 1 0 0 0 0 1
Syndromic X-linked intellectual disability Hedera type 0 0 1 0 0 0 1
Syndromic microphthalmia type 5 0 0 1 0 0 0 1
Synpolydactyly type 1 0 1 0 0 0 0 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 1 0 0 0 1
TARP syndrome 0 1 0 0 0 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 0 1 0 0 0 1
TMEM63B-associated disorder 1 0 0 0 0 0 1
TUBA1B-associated neurodevelopmental disorder 0 0 1 0 0 0 1
TWIST1-related craniosynostosis 0 0 1 0 0 0 1
Tay-Sachs disease, variant AB 0 1 0 0 0 0 1
Teebi hypertelorism syndrome 1 0 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 5 0 0 1 0 0 0 1
Thrombocytosis 0 0 1 0 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 0 1 0 0 0 1
Timothy syndrome 0 0 1 0 0 0 1
Tooth agenesis, selective, 3 0 1 0 0 0 0 1
Tooth agenesis, selective, 8 0 0 1 0 0 0 1
Torsion dystonia 6 0 1 0 0 0 0 1
Townes-Brocks syndrome 2 0 0 1 0 0 0 1
Transient infantile hypertriglyceridemia and hepatosteatosis 0 1 0 0 0 0 1
Treacher Collins syndrome 1 1 0 0 0 0 0 1
Trichorhinophalangeal dysplasia type I 0 0 1 0 0 0 1
Trichorhinophalangeal syndrome, type III 1 0 0 0 0 0 1
Tropical pancreatitis 0 0 0 1 0 0 1
Troyer syndrome 1 0 0 0 0 0 1
Type 1 diabetes mellitus 20 0 0 1 0 0 0 1
Type 2 diabetes mellitus; Obesity; Hyperlipidemia; Diabetes mellitus; Hypertensive disorder; Class III obesity 0 0 1 0 0 0 1
UNC13A-associated disorder 0 1 0 0 0 0 1
Uveal coloboma-cleft lip and palate-intellectual disability 0 1 0 0 0 0 1
Van Maldergem syndrome 1 0 0 1 0 0 0 1
Van der Woude syndrome 1 0 0 1 0 0 0 1
Velocardiofacial syndrome 1 0 0 0 0 0 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 1 0 0 0 1
Ventricular fibrillation; Cardiac arrest; Breast carcinoma; Paroxysmal atrial fibrillation 0 1 0 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 0 1 0 0 1
Vesicoureteral reflux 2 0 0 1 0 0 0 1
Vitelliform macular dystrophy 1 1 0 0 0 0 0 1
Vitelliform macular dystrophy 3 1 0 0 0 0 0 1
Waardenburg syndrome type 2E 0 1 0 0 0 0 1
Warburg micro syndrome 2 0 0 1 0 0 0 1
Warburg micro syndrome 4 0 0 1 0 0 0 1
Warts, hypogammaglobulinemia, infections, and myelokathexis 1 0 0 0 0 0 1
Wieacker-Wolff syndrome 0 0 1 0 0 0 1
Worth disease 0 1 0 0 0 0 1
Wrinkly skin syndrome 0 0 1 0 0 0 1
X-linked distal spinal muscular atrophy type 3 0 0 1 0 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 0 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 1 0 0 0 0 0 1
X-linked intellectual disability, Stocco dos Santos type 0 0 0 1 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 1 0 0 0 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 1 0 0 0 0 1
X-linked severe congenital neutropenia 0 0 1 0 0 0 1
X-linked sideroblastic anemia with ataxia 0 0 1 0 0 0 1
YWHAE-associated disorder 0 1 0 0 0 0 1
ZMYND8-associated neurodevelopmental disorder 0 0 1 0 0 0 1
alpha Thalassemia 1 0 0 0 0 0 1
beta Thalassemia 1 0 0 0 0 0 1
recessive ARS-related multisystem disease 1 0 0 0 0 0 1

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