ClinVar Miner

Variants from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:

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

pathogenic likely pathogenic uncertain significance likely benign benign total
500 279 479 20 1 1276

Gene and significance breakdown #

Total genes and gene combinations: 767
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 16 1 0 0 0 17
CHD7 10 0 2 0 0 12
PTPN11 6 4 0 1 0 11
RYR1 6 2 3 0 0 11
ANKRD11 6 1 2 0 0 9
KCNQ1 5 2 1 0 0 8
BRCA1 7 0 0 0 0 7
CACNA1A 1 3 3 0 0 7
KMT2D 3 0 4 0 0 7
LOC102724058, SCN1A 3 0 4 0 0 7
ARID1B 5 1 0 0 0 6
CFTR 5 1 0 0 0 6
COL2A1 1 5 0 0 0 6
CREBBP 2 4 0 0 0 6
DYNC1H1 2 2 2 0 0 6
MUTYH 5 1 0 0 0 6
MYBPC3 6 1 0 0 0 6
MYH7 2 3 1 0 0 6
PKHD1 3 1 2 0 0 6
PKP2 6 0 0 0 0 6
PMS2 6 0 0 0 0 6
SCN8A 1 2 3 0 0 6
SLC2A1 1 2 3 0 0 6
ACAN 0 1 4 0 0 5
LDLR 4 1 0 0 0 5
MAGEL2 3 1 1 0 0 5
MECP2 5 0 0 0 0 5
MTOR 3 0 2 0 0 5
NF1 3 1 1 0 0 5
PDHA1 1 2 2 0 0 5
SCN2A 2 2 1 0 0 5
SHANK3 3 0 2 0 0 5
SPG11 4 1 0 0 0 5
ADNP 3 0 1 0 0 4
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 4 0 0 0 0 4
ATRX 1 0 3 0 0 4
BRSK2 1 2 1 0 0 4
CACNA1E 0 0 4 0 0 4
DHCR7 2 0 2 0 0 4
DNAH5 3 0 1 0 0 4
EHMT1 3 1 0 0 0 4
HEXA 4 0 0 0 0 4
KCNQ2 3 1 0 0 0 4
MSH6 3 1 0 0 0 4
PLEC 0 2 2 0 0 4
PMM2 1 3 0 0 0 4
RET 3 1 1 0 0 4
SCN1A 2 1 1 0 0 4
SCN5A 1 2 1 0 0 4
TCF4 3 1 0 0 0 4
TMEM260 0 3 1 0 0 4
TOR1A 0 1 3 0 0 4
WDR26 0 3 1 0 0 4
ALDH18A1 0 0 3 0 0 3
ARX 1 0 1 1 0 3
BARD1 2 1 0 0 0 3
BPTF 1 0 2 0 0 3
BRCA1, LOC126862571 3 0 0 0 0 3
C2CD3 0 1 2 0 0 3
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 1 0 0 3
CLCN1 2 1 0 0 0 3
DDX3X 2 1 0 0 0 3
DNMT3A 0 1 2 0 0 3
DSG2 2 1 0 0 0 3
EBF3 3 0 0 0 0 3
FOXG1 2 1 0 0 0 3
GLI3 1 0 2 0 0 3
GRIN2B 1 2 0 0 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 0 3
HCFC1 1 0 2 0 0 3
HNRNPK 0 3 0 0 0 3
HNRNPU 1 1 1 0 0 3
HUWE1 0 1 2 0 0 3
ITPR1 0 0 3 0 0 3
KLHL40 1 1 1 0 0 3
LAMA2 0 0 3 0 0 3
MARK2 0 0 3 0 0 3
MED13L 3 0 0 0 0 3
MLH1 3 0 0 0 0 3
MME 0 0 2 1 0 3
MMUT 1 0 2 0 0 3
MYRF 1 2 0 0 0 3
NAA15 3 0 0 0 0 3
NOTCH2 2 0 1 0 0 3
NPHS1 2 0 1 0 0 3
POGZ 2 1 0 0 0 3
PUF60 3 1 0 0 0 3
PURA 1 2 0 0 0 3
SLC22A5 3 0 0 0 0 3
SMARCA1 0 0 3 0 0 3
TRIO 1 0 2 0 0 3
TTN 2 1 0 0 0 3
ULK4 0 0 0 3 0 3
WDR45 1 2 0 0 0 3
ZEB2 2 1 0 0 0 3
ABCA7 2 0 0 0 0 2
ABCC4, ABHD13, ACOD1, ADPRHL1, AKAP11, ALG11, ALG5, ALOX5AP, AMER2, ANKRD10, ANKRD10-IT1, ARGLU1, ARHGEF7, ARL11, ATP11A, ATP11AUN, ATP12A, ATP4B, ATP7B, ATP8A2, ATXN8OS, B3GLCT, BIVM, BIVM-ERCC5, BORA, BRCA2, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CBY2, CCDC122, CCDC169, CCDC169-SOHLH2, CCDC70, CCNA1, CDADC1, CDC16, CDK8, CDX2, CHAMP1, CKAP2, CLDN10, CLN5, CLYBL, CNMD, COG3, COG6, COL4A1, COL4A2, COMMD6, CPAP, CPB2, CRYL1, CSNK1A1L, CUL4A, CYSLTR2, DACH1, DAOA, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIS3, DLEU1, DLEU2, DLEU7, DNAJC15, DNAJC3, DOCK9, DZIP1, EBPL, EDNRB, EEF1AKMT1, EFNB2, ELF1, ENOX1, EPSTI1, ERCC5, ERICH6B, ESD, EXOSC8, F10, F7, FAM124A, FAM216B, FARP1, FBXL3, FGF14, FGF9, FLT1, FLT3, FNDC3A, FOXO1, FREM2, FRY, GAS6, GGACT, GJA3, GJB2, GJB6, GPALPP1, GPC5, GPC6, GPR12, GPR18, GPR180, GPR183, GRTP1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HS6ST3, HSPH1, HTR2A, IFT88, IL17D, ING1, INTS6, IPO5, IRS2, ITGBL1, ITM2B, KATNAL1, KBTBD6, KBTBD7, KCNRG, KCTD12, KCTD4, KL, KLF12, KLF5, KLHL1, KPNA3, LACC1, LAMP1, LATS2, LCP1, LHFPL6, LIG4, LINC00402, LINC00427, LINC00543, LINC00558, LINC00567, LMO7, LMO7DN, LNX2, LOC100288208, LPAR6, LRCH1, LRRC63, LRTM3, MAB21L1, MBNL2, MCF2L, MED4, MEDAG, METTL21C, MICU2, MIPEP, MIR15A, MIR16-1, MIR17, MIR17HG, MIR18A, MIR19A, MIR19B1, MIR20A, MIR4500HG, MIR92A1, MLNR, MPHOSPH8, MRPL57, MRPS31, MTIF3, MTMR6, MTRF1, MTUS2, MYCBP2, MYO16, MZT1, N4BP2L1, N4BP2L2, NAA16, NALCN, NALF1, NAXD, NBEA, NDFIP2, NEK3, NEK5, NHLRC3, NUDT15, NUFIP1, NUP58, OBI1, OLFM4, OXGR1, PABPC3, PAN3, PARP4, PCCA, PCDH17, PCDH20, PCDH8, PCDH9, PCID2, PCOTH, PDS5B, PDX1, PHF11, PIBF1, POGLUT2, POLR1D, POMP, POSTN, POU4F1, PROSER1, PROZ, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, PSPC1, RAB20, RAP2A, RASA3, RASL11A, RB1, RBM26, RCBTB1, RCBTB2, RFC3, RFXAP, RGCC, RNASEH2B, RNF113B, RNF17, RNF6, RPL21, RUBCNL, RXFP2, SACS, SAP18, SCEL, SERP2, SERPINE3, SERTM1, SETDB2, SGCG, SHISA2, SIAH3, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC25A30, SLC46A3, SLC7A1, SLC9D1, SLITRK1, SLITRK5, SLITRK6, SMAD9, SMIM2, SOHLH2, SOX1, SOX21, SPACA7, SPART, SPATA13, SPRY2, SPRYD7, STARD13, STK24, STOML3, SUCLA2, SUGT1, SUPT20H, SWINGN, TBC1D4, TDRD3, TEX26, TEX29, TEX30, TFDP1, TGDS, THSD1, TM9SF2, TMEM255B, TMTC4, TNFRSF19, TNFSF11, TNFSF13B, TPP2, TPT1, TPTE2, TRIM13, TRPC4, TSC22D1, TUBA3C, TUBGCP3, UBAC2, UBL3, UCHL3, UFM1, UGGT2, UPF3A, URAD, USP12, USPL1, UTP14C, VPS36, VWA8, WASF3, WBP4, WDFY2, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM2, ZMYM5 2 0 0 0 0 2
ACTN1 1 1 0 0 0 2
ADA2 2 0 0 0 0 2
AFF3 1 0 1 0 0 2
AGO1 0 1 1 0 0 2
AHI1 0 1 1 0 0 2
AIFM3, CRKL, KLHL22, LZTR1, MED15, P2RX6, PI4KA, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, ZNF74 0 1 1 0 0 2
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 2 0 0 0 0 2
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 2 0 0 0 0 2
ALG1 0 2 0 0 0 2
ALG12 0 0 2 0 0 2
ANK2 0 0 2 0 0 2
ANKRD17 0 2 0 0 0 2
AP4B1 1 0 1 0 0 2
APP 0 0 2 0 0 2
ARFGEF1 0 1 1 0 0 2
ASCC3 0 0 2 0 0 2
ASH1L 0 1 1 0 0 2
ASPM 0 0 0 2 0 2
ASXL3 1 0 1 0 0 2
ATM 2 0 0 0 0 2
ATP7B 0 2 0 0 0 2
ATXN8OS 0 2 0 0 0 2
BICD2 1 1 0 0 0 2
BLTP1 0 0 2 0 0 2
BRAF 2 0 0 0 0 2
BRPF1 0 2 0 0 0 2
CAPN3 0 1 1 0 0 2
CBL 0 1 1 0 0 2
CEP120 0 1 1 0 0 2
CFTR, LOC111674475 2 0 0 0 0 2
CHAT 0 0 2 0 0 2
CHD2 2 0 0 0 0 2
CHD4 0 1 1 0 0 2
CHEK2 1 0 1 0 0 2
CLPB, LOC126861258 2 0 0 0 0 2
CNTNAP1 2 0 0 0 0 2
COASY 0 1 1 0 0 2
COL12A1 0 1 1 0 0 2
COL4A1 0 1 1 0 0 2
CSNK1E, TPTEP2-CSNK1E 0 0 2 0 0 2
CSNK2B 0 2 0 0 0 2
CTNND2 0 0 1 0 1 2
CUL9 0 0 2 0 0 2
CYFIP1 0 0 2 0 0 2
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 2 0 0 0 2
DCHS1 0 0 0 2 0 2
DENND5A 0 2 0 0 0 2
DEPDC5 0 1 1 0 0 2
DHCR24 0 0 2 0 0 2
DHX34 0 0 2 0 0 2
DNAH14 0 0 2 0 0 2
DNHD1 0 0 2 0 0 2
DYRK1A 2 0 0 0 0 2
EP300 1 1 0 0 0 2
ERCC2 0 0 2 0 0 2
EVC 1 1 0 0 0 2
FAT1 0 0 2 0 0 2
FBN1 1 0 1 0 0 2
FGFR3 1 0 1 0 0 2
FOXC1 0 1 1 0 0 2
FYCO1 2 0 0 0 0 2
GAA 1 0 1 0 0 2
GATA6 1 0 1 0 0 2
GH-LCR, SCN4A 2 0 0 0 0 2
GJB2 2 0 0 0 0 2
GLA, RPL36A-HNRNPH2 2 0 0 0 0 2
GLB1 2 0 0 0 0 2
GMPPB 2 0 0 0 0 2
GNAO1 0 0 2 0 0 2
GREB1L 2 0 0 0 0 2
GRIA3 0 0 0 2 0 2
GRIN2A 1 1 0 0 0 2
HDAC8 1 1 0 0 0 2
HECTD4 1 1 0 0 0 2
HNF4A 0 1 1 0 0 2
HSALR1, PIEZO1 1 0 1 0 0 2
IARS1 0 0 2 0 0 2
IFIH1 0 1 1 0 0 2
INSL6, JAK2 0 0 2 0 0 2
INVS 0 2 0 0 0 2
ITPR1, LOC126806590 1 1 0 0 0 2
JAG1 0 1 1 0 0 2
KCNMA1 0 1 1 0 0 2
KCNT1 0 0 0 2 0 2
KDM5B 0 0 2 0 0 2
KIAA0586 2 0 0 0 0 2
KIF1A 2 0 0 0 0 2
KIF21A 0 1 1 0 0 2
KMT2A 1 0 1 0 0 2
LOC121740638, TFAP2A 0 2 0 0 0 2
LOC126862757, TCF4 1 0 1 0 0 2
LOXHD1 1 1 0 0 0 2
LZTR1 1 1 0 0 0 2
MAP3K7 0 1 1 0 0 2
MAST1 0 1 1 0 0 2
MEF2C 2 0 0 0 0 2
METTL1 0 0 2 0 0 2
MFN2 1 1 0 0 0 2
MPDZ 2 0 0 0 0 2
MSH2 2 0 0 0 0 2
MTCL3, SOGA3-KIAA0408 0 0 2 0 0 2
NAV3 0 0 2 0 0 2
NBAS 2 0 0 0 0 2
NBEA 0 2 0 0 0 2
NEB 0 1 1 0 0 2
NRXN1 0 0 0 2 0 2
NUP214 0 0 2 0 0 2
OCA2 2 0 0 0 0 2
OTOG 1 0 1 0 0 2
PAX6 1 0 1 0 0 2
PCNX2 0 0 2 0 0 2
PDE1B 0 0 2 0 0 2
PEX1 1 0 1 0 0 2
PHOX2B 1 1 0 0 0 2
PIGO 0 1 1 0 0 2
PIK3CA 0 1 1 0 0 2
POLR2A 0 0 2 0 0 2
POMT1 1 1 0 0 0 2
PPA2 1 1 0 0 0 2
PPP2R1A 1 1 0 0 0 2
PPT1 1 1 0 0 0 2
PREX2 0 0 2 0 0 2
PTEN 1 0 1 0 0 2
RALA 1 0 1 0 0 2
RASGRF1 0 0 2 0 0 2
RPL3L 0 1 1 0 0 2
RUBCN 0 0 2 0 0 2
SALL1 0 1 1 0 0 2
SAMD9 1 1 0 0 0 2
SATB2 2 0 0 0 0 2
SHOC2 1 0 1 0 0 2
SKIC3 0 1 1 0 0 2
SLC1A4 2 0 0 0 0 2
SLC25A1 1 1 0 0 0 2
SLC26A4 1 1 0 0 0 2
SMARCA2 1 1 0 0 0 2
SMARCA4 1 0 1 0 0 2
SMC1A 0 1 1 0 0 2
SNORD118, TMEM107 1 0 1 0 0 2
SNX14 2 0 0 0 0 2
SOX5 1 0 1 0 0 2
SPTBN5 0 0 2 0 0 2
STXBP1 1 1 0 0 0 2
SYNGAP1 1 1 0 0 0 2
SYVN1 0 0 2 0 0 2
TBCD 0 1 1 0 0 2
TBL1XR1 1 1 0 0 0 2
TELO2 1 1 0 0 0 2
TP63 0 2 0 0 0 2
TPP1 2 0 0 0 0 2
TRAPPC9 0 0 2 0 0 2
TSC2 0 0 2 0 0 2
TSEN54 1 0 1 0 0 2
TTC19 1 0 1 0 0 2
TTC7A 0 2 0 0 0 2
TUBB 1 0 1 0 0 2
TUBB2B 0 1 1 0 0 2
TUBGCP2 0 0 2 0 0 2
TYR 2 0 0 0 0 2
U2AF2 0 0 2 0 0 2
UBE3B 2 0 0 0 0 2
UNC80 0 2 0 0 0 2
VPS13C 0 0 2 0 0 2
WARS2 0 2 0 0 0 2
WDFY3 1 0 1 0 0 2
WDPCP 1 0 1 0 0 2
XRCC4 0 0 2 0 0 2
ZBTB18 0 2 0 0 0 2
ZDHHC9 0 1 1 0 0 2
ZMIZ1 1 1 0 0 0 2
ZMYM2 0 0 2 0 0 2
ZNFX1 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP5MGL, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCT8L2, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CIMAP1B, CIMIP4, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR2, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GTPBP1, GTSE1, GUCD1, H1-0, HDAC10, HDHD5, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HPS4, HSCB, IFT27, IGLC1, IGLL1, IGLL5, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIMK2, LMF2, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MIAT, MICAL3, MICALL1, MIEF1, MIF, MIOX, MIR130B, MIR33A, MIR659, MIRLET7A3, MIRLET7B, MLC1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NF2, NFAM1, NIPSNAP1, NOL12, NPTXR, NUP50, OR11H1, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PDGFB, PDXP, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, POTEH, PPARA, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RABL2B, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMARCB1, SMC1B, SMDT1, SMTN, SNAP29, SNORD139, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TEF, TFIP11, THAP7, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOM1, TOMM22, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TRMU, TSPO, TSSK2, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XKR3, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3 1 0 0 0 0 1
AADAT, ADAM29, AGA, ANXA10, ASB5, CBR4, CDKN2AIP, CEP44, CLCN3, CLDN22, CLDN24, DCTD, DDX60, DDX60L, FBXO8, GALNT7, GALNTL6, GLRA3, GPM6A, HAND2, HMGB2, HPF1, HPGD, LOC101928198, MFAP3L, NEIL3, NEK1, PALLD, SAP30, SCRG1, SH3RF1, SPATA4, SPCS3, TENM3, VEGFC, WDR17, WWC2 1 0 0 0 0 1
AAMP, ABCA12, ABCB6, ABI2, ACADL, ACKR3, ACSL3, ADAM23, AGAP1, AGFG1, AGPS, AGXT, AKAP19, ALPG, ALPI, ALPP, ALS2, ANKAR, ANKMY1, ANKRD44, ANKZF1, ANO7, AOX1, AP1S3, AQP12A, AQP12B, ARL4C, ARMC9, ARPC2, ASB1, ASB18, ASIC4, ASNSD1, ATG16L1, ATG4B, ATG9A, ATIC, B3GNT7, BARD1, BCS1L, BMPR2, BOK, BOLL, BZW1, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, CAB39, CALCRL, CAPN10, CARF, CASP10, CASP8, CATIP, CATSPERT, CAVIN2, CCDC140, CCDC141, CCDC150, CCL20, CCNYL1, CD28, CDK15, CDK5R2, CERKL, CFAP65, CFLAR, CHPF, CHRND, CHRNG, CLK1, CMKLR2, CNOT9, CNPPD1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COPS7B, COPS8, COPS9, COQ10B, CPO, CPS1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CTDSP1, CTLA4, CUL3, CWC22, CXCR1, CXCR2, CYP20A1, CYP27A1, D2HGDH, DAW1, DES, DGKD, DIRC1, DIRC3, DIS3L2, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNER, DNPEP, DOCK10, DRC11, DTYMK, DUSP19, DUSP28, DYTN, ECEL1, EEF1B2, EFHD1, EIF4E2, EPHA4, ERBB4, ERFE, ESPNL, FAM117B, FAM124B, FAM171B, FARP2, FARSB, FASTKD2, FBXO36, FEV, FKBP7, FLACC1, FN1, FRZB, FSIP2, FTCDNL1, FZD5, FZD7, GAL3ST2, GBX2, GIGYF2, GLB1L, GLS, GMPPA, GPBAR1, GPC1, GPR35, GPR55, GTF3C3, GULP1, HDAC4, HDLBP, HECW2, HES6, HIBCH, HJURP, HSPD1, HSPE1, HTR2B, HYCC2, ICA1L, ICOS, IDH1, IFT70A, IFT70B, IGFBP2, IGFBP5, IHH, IKZF2, ILKAP, ING5, INHA, INO80D, INPP1, IRS1, ITGA4, ITGAV, ITM2C, ITPRID2, KANSL1L, KCNE4, KCNJ13, KCTD18, KIF1A, KLF7, KLHL30, LANCL1, LRRFIP1, MAB21L4, MAIP1, MAP2, MARCHF4, MARS2, MDH1B, METTL21A, MFF, MFSD6, MIR1258, MIR149, MIR26B, MIR375, MLPH, MOB4, MOGAT1, MPP4, MREG, MROH2A, MRPL44, MSTN, MTERF4, MYL1, MYO1B, NAB1, NABP1, NBEAL1, NCKAP1, NCL, NDUFA10, NDUFB3, NDUFS1, NEMP2, NEU2, NEU4, NEUROD1, NGEF, NHEJ1, NIF3L1, NMUR1, NOP58, NPPC, NRP2, NUP35, NYAP2, OBSL1, OR6B2, OR6B3, ORC2, ORMDL1, OSBPL6, OSGEPL1, OTOS, PARD3B, PASK, PAX3, PCGEM1, PDCD1, PDE11A, PDE1A, PDE6D, PECR, PER2, PGAP1, PID1, PIKFYVE, PJVK, PLCD4, PLCL1, PLEKHA3, PLEKHM3, PMS1, PNKD, PPIL3, PPP1R1C, PPP1R7, PRKAG3, PRKRA, PRLH, PRR21, PRSS56, PSMD1, PTH2R, PTMA, PTPRN, RAB17, RAMP1, RAPH1, RBM44, RBM45, RESP18, RETREG2, RFTN2, RHBDD1, RNF25, RNPEPL1, RPE, RPL37A, RTP5, RUFY4, SAG, SATB2, SCG2, SCLY, SEPTIN2, SERPINE2, SESTD1, SF3B1, SGO2, SGPP2, SH3BP4, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC39A10, SLC40A1, SLC4A3, SMARCAL1, SNED1, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPAG16, SPATA3, SPATS2L, SPEG, SPHKAP, SPP2, STAT1, STAT4, STK11IP, STK16, STK17B, STK25, STK36, STRADB, SUMO1, TEX44, TFPI, THAP4, TIGD1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM198, TMEM237, TNP1, TNS1, TRAF3IP1, TRAK2, TRIP12, TRPM8, TTLL4, TTN, TUBA4A, TWIST2, TYW5, UBE2E3, UBE2F, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC80, USP37, USP40, VIL1, VWC2L, WDFY1, WDR12, WDR75, WNT10A, WNT6, XRCC5, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZNF385B, ZNF804A, ZSWIM2 1 0 0 0 0 1
AARS1 0 0 1 0 0 1
ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADCY9, ALDOA, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ASPHD1, ATF7IP2, ATP2A1, ATXN2L, BCAR4, BFAR, BICDL2, BMERB1, BOLA2, C16orf54, C16orf82, C16orf89, C16orf90, C16orf92, C16orf96, CACNG3, CARHSP1, CCP110, CD19, CDIP1, CDIPT, CDR2, CEP20, CHP2, CIITA, CLDN6, CLDN9, CLEC16A, CLEC19A, CLN3, CLUAP1, COG7, COQ7, CORO7, CORO7-PAM16, CPPED1, CREBBP, CRYM, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, DNAJA3, DNASE1, DOC2A, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, FLYWCH1, GDE1, GDPD3, GGA2, GLIS2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAPSTR1, HCFC1R1, HIRIP3, HMOX2, HS3ST2, HS3ST4, IGSF6, IL21R, IL27, IL32, IL4R, INO80E, IQCK, ITPRIPL2, KATNIP, KCTD13, KDM8, KIF22, KNOP1, KREMEN2, LAT, LCMT1, LDAF1, LITAF, LYRM1, MAPK3, MARF1, MAZ, MEFV, METTL22, METTL9, MGRN1, MIR193B, MIR365A, MMP25, MOSMO, MPV17L, MRTFB, MTRNR2L4, MVP, MYH11, NAA60, NAGPA, NDE1, NDUFAB1, NFATC2IP, NLRC3, NMRAL1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NSMCE1, NTAN1, NUBP1, NUDT16L1, NUPR1, OR1F1, OR2C1, OTOA, PAGR1, PALB2, PAM16, PAQR4, PARN, PDILT, PDXDC1, PDZD9, PKMYT1, PLA2G10, PLK1, PMM2, POLR3E, PPL, PPP4C, PRKCB, PRM1, PRM2, PRM3, PRRT2, QPRT, RABEP2, RBBP6, RBFOX1, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SEZ6L2, SGF29, SH2B1, SHISA9, SLC5A11, SLX1B, SLX4, SMG1, SMIM22, SNN, SNX29, SOCS1, SPN, SPNS1, SRL, SULT1A1, SULT1A2, SULT1A4, SYT17, TAOK2, TBX6, TEKT5, TFAP4, THOC6, THUMPD1, TIGD7, TLCD3B, TMC5, TMC7, TMEM114, TMEM186, TMEM219, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TRAP1, TUFM, TVP23A, TXNDC11, UBALD1, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, VASN, VPS35L, VWA3A, XPO6, XYLT1, YPEL3, ZC3H7A, ZG16, ZKSCAN2, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF75A, ZP2, ZSCAN10, ZSCAN32 1 0 0 0 0 1
ABAT, CARHSP1, HAPSTR1, PMM2, TMEM186, USP7 0 0 1 0 0 1
ABAT, CARHSP1, METTL22, PMM2, TMEM114, TMEM186, USP7 0 0 1 0 0 1
ABCB7, ABCD1, ACSL4, ACTRT1, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, ALG13, AMER1, AMMECR1, AMOT, APLN, APOOL, AR, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CAPN6, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CDX4, CENPI, CETN2, CHIC1, CHM, CHRDL1, CITED1, CLDN2, CLIC2, CMC4, CNGA2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CUL4B, CXCR3, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf65, CXorf66, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DGAT2L6, DIAPH2, DKC1, DLG3, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP9, EDA, EDA2R, EFNB1, ELF4, EMD, ENOX2, EOLA1, EOLA2, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM133A, FAM199X, FAM3A, FAM50A, FATE1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1NB, FOXO4, FOXR2, FRMD7, FRMPD3, FTX, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GCNA, GDI1, GDPD2, GJB1, GLA, GLUD2, GPC3, GPC4, GPR101, GPR119, GPR174, GPR50, GPRASP1, GPRASP2, GPRASP3, GRIA3, GUCY2F, H2AB1, H2AB2, H2AB3, H2BW1, H2BW2, HAUS7, HCFC1, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INTS6L, IRAK1, IRS4, ITGB1BP2, ITM2A, JPX, KCNE5, KIAA1210, KIF4A, KLF8, KLHL13, KLHL4, L1CAM, LAGE3, LAMP2, LAS1L, LDOC1, LHFPL1, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAGEE1, MAGEE2, MAGT1, MAMLD1, MAP7D3, MBNL3, MCF2, MCTS1, MECP2, MED12, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR223, MIR224, MIR424, MIR448, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MORC4, MORF4L2, MOSPD1, MPP1, MSN, MTCP1, MTM1, MTMR1, MTMR8, NAA10, NALF2, NAP1L2, NAP1L3, NDUFA1, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NSDHL, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PDZD11, PDZD4, PGAM4, PGK1, PGRMC1, PHF6, PHKA1, PIN4, PJA1, PLAC1, PLP1, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POU3F4, PRPS1, PRR32, PRRG3, PSMD10, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM41, RBMX, RBMX2, RBMXL3, RENBP, RHOXF1, RHOXF2, RHOXF2B, RIPPLY1, RLIM, RNF113A, RNF128, RPA4, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RRAGB, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SNX12, SOWAHD, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX2, SSR4, STAG2, STARD8, STEEP1, STK26, SYTL4, TAF1, TAF7L, TAF9B, TAFAZZIN, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TGIF2LX, THOC2, TIMM8A, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMLHE, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP26, USP51, UTP14A, VBP1, VGLL1, VMA21, VSIG1, VSIG4, WDR44, XIAP, XIST, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZIC3, ZMAT1, ZMYM3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF711, ZNF75D, ZXDA, ZXDB 1 0 0 0 0 1
ABCB7, ABCD1, ACSL4, ACTRT1, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, ALG13, AMER1, AMMECR1, AMOT, APLN, APOOL, AR, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CAPN6, CCDC160, CCNQ, CD40LG, CD99L2, CDR1, CDX4, CENPI, CETN2, CHIC1, CHM, CHRDL1, CITED1, CLDN2, CLIC2, CMC4, CNGA2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CUL4B, CXCR3, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf65, CXorf66, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DGAT2L6, DIAPH2, DKC1, DLG3, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP9, EDA, EDA2R, EFNB1, ELF4, EMD, ENOX2, EOLA1, EOLA2, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM133A, FAM199X, FAM3A, FAM50A, FATE1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1NB, FOXO4, FRMD7, FRMPD3, FTX, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GCNA, GDI1, GDPD2, GJB1, GLA, GLUD2, GPC3, GPC4, GPR101, GPR119, GPR174, GPR50, GPRASP1, GPRASP2, GPRASP3, GRIA3, GUCY2F, H2AB1, H2AB2, H2AB3, H2BW1, H2BW2, HAUS7, HCFC1, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSFX1, HSFX2, HTATSF1, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INTS6L, IRAK1, IRS4, ITGB1BP2, ITM2A, JPX, KCNE5, KIAA1210, KIF4A, KLHL13, KLHL4, L1CAM, LAGE3, LAMP2, LAS1L, LDOC1, LHFPL1, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEC1, MAGEC2, MAGEC3, MAGEE1, MAGEE2, MAGT1, MAMLD1, MAP7D3, MBNL3, MCF2, MCTS1, MECP2, MED12, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR223, MIR224, MIR424, MIR448, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MMGT1, MORC4, MORF4L2, MOSPD1, MPP1, MSN, MTCP1, MTM1, MTMR1, MTMR8, NAA10, NALF2, NAP1L2, NAP1L3, NDUFA1, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NSDHL, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PDZD11, PDZD4, PGAM4, PGK1, PGRMC1, PHF6, PHKA1, PIN4, PJA1, PLAC1, PLP1, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POU3F4, PRPS1, PRR32, PRRG3, PSMD10, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM41, RBMX, RBMX2, RBMXL3, RENBP, RHOXF1, RHOXF2, RHOXF2B, RIPPLY1, RLIM, RNF113A, RNF128, RPA4, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLITRK2, SLITRK4, SMARCA1, SMIM10, SMIM9, SNX12, SOWAHD, SOX3, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX2, SSR4, STAG2, STARD8, STEEP1, STK26, SYTL4, TAF1, TAF7L, TAF9B, TAFAZZIN, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TGIF2LX, THOC2, TIMM8A, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMLHE, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP26, UTP14A, VBP1, VGLL1, VMA21, VSIG1, VSIG4, WDR44, XIAP, XIST, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZIC3, ZMAT1, ZMYM3, ZNF185, ZNF275, ZNF280C, ZNF449, ZNF711, ZNF75D, ZXDA, ZXDB 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 0 1 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 1
ABCC8 1 0 0 0 0 1
ABCD1, PLXNB3 1 0 0 0 0 1
ABCD2, ADAMTS20, ADCY6, ALG10B, AMIGO2, ANO6, ANP32D, ARF3, ARID2, ASB8, C12orf54, CACNB3, CCDC184, CCDC65, CCNT1, CNTN1, COL2A1, CPNE8, DBX2, DDN, DDX23, DHH, ENDOU, FKBP11, GXYLT1, H1-7, HDAC7, IRAK4, KANSL2, KIF21A, KMT2D, LALBA, LMBR1L, LRRK2, MUC19, NELL2, OR10AD1, OR8S1, PCED1B, PDZRN4, PFKM, PPHLN1, PRICKLE1, PRKAG1, PUS7L, RAPGEF3, REDIC1, RHEBL1, RND1, RPAP3, SCAF11, SENP1, SLC2A13, SLC38A1, SLC38A2, SLC38A4, SLC48A1, TMEM106C, TMEM117, TUBA1A, TUBA1B, TWF1, VDR, WNT1, WNT10B, YAF2, ZCRB1, ZNF641 0 1 0 0 0 1
ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, BACE2, BACH1, BAGE2, BAGE3, BRWD1, BTG3, C21orf58, C21orf91, C2CD2, CBR1, CBR3, CBS, CCT8, CFAP298, CFAP410, CHAF1B, CHODL, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, DIP2A, DNAJC28, DNMT3L, DONSON, DOP1B, DSCAM, DSCR4, DSCR8, DYRK1A, EPCIP, ERG, ETS2, EVA1C, FAM3B, FTCD, GABPA, GART, GATD3, GET1, GRIK1, HEMK2, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, ITGB2, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00114, LINC00163, LINC00315, LINC00334, LIPI, LRRC3, LSS, LTN1, MAP3K7CL, MCM3AP, MIR125B2, MIR155, MIR99A, MIRLET7C, MIS18A, MORC3, MRAP, MRPL39, MRPS6, MX1, MX2, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PCBP3, PCNT, PCP4, PDE9A, PDXK, PFKL, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RRP1, RRP1B, RSPH1, RUNX1, RWDD2B, S100B, SAMSN1, SCAF4, SETD4, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SOD1, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRPM2, TSPEAR, TTC3, U2AF1, UBASH3A, UBE2G2, UMODL1, URB1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21 1 0 0 0 0 1
ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, BACE2, BACH1, BRWD1, BTG3, C21orf58, C21orf91, C2CD2, CBR1, CBR3, CBS, CCT8, CFAP298, CFAP410, CHAF1B, CHODL, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, DIP2A, DNAJC28, DNMT3L, DONSON, DOP1B, DSCAM, DSCR4, DSCR8, DYRK1A, EPCIP, ERG, ETS2, EVA1C, FAM3B, FTCD, GABPA, GART, GATD3, GET1, GRIK1, HEMK2, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, ITGB2, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00114, LINC00163, LINC00315, LINC00334, LIPI, LRRC3, LSS, LTN1, MAP3K7CL, MCM3AP, MIR125B2, MIR155, MIR99A, MIRLET7C, MIS18A, MORC3, MRAP, MRPL39, MRPS6, MX1, MX2, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PCBP3, PCNT, PCP4, PDE9A, PDXK, PFKL, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RRP1, RRP1B, RSPH1, RUNX1, RWDD2B, S100B, SAMSN1, SCAF4, SETD4, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SOD1, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, TTC3, U2AF1, UBASH3A, UBE2G2, UMODL1, URB1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21 1 0 0 0 0 1
ABHD2, ACAN, ADAMTS17, AEN, AGBL1, ALDH1A3, ANPEP, AP3S2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BLM, C15orf32, CERS3, CHD2, CHSY1, CIB1, CRTC3, DET1, FAM174B, FANCI, FES, FURIN, GDPGP1, HAPLN3, HDDC3, IDH2, IGF1R, IQGAP1, ISG20, KIF7, LINC00928, LINS1, LRRC28, LRRK1, LYSMD4, MAN2A2, MCTP2, MEF2A, MESP1, MESP2, MFGE8, MIR9-3, MRPL46, MRPS11, NGRN, NR2F2, NTRK3, OR4F15, OR4F4, OR4F6, PCSK6, PEX11A, PGPEP1L, PLIN1, POLG, PRC1, RCCD1, RGMA, RHCG, RLBP1, SELENOS, SEMA4B, SLCO3A1, SNRPA1, SPATA8, ST8SIA2, SV2B, SYNM, TARS3, TICRR, TM2D3, TTC23, UNC45A, VPS33B, WDR93, ZNF710, ZNF774 1 0 0 0 0 1
ABI3 0 0 1 0 0 1
ABRAXAS1, ADAMTS3, AFF1, AFM, AFP, ALB, AMBN, ANKRD17, ANTXR2, ANXA3, AREG, ARHGAP24, ART3, BMP2K, BMP3, BTC, C4orf36, CCDC158, CCNG2, CCNI, CDKL2, CDS1, CFAP299, CNOT6L, COPS4, COQ2, COX18, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DCK, ENAM, ENOPH1, EPGN, EREG, FAM47E, FAM47E-STBD1, FGF5, FRAS1, G3BP2, GC, GK2, GPAT3, GRSF1, HELQ, HNRNPD, HNRNPDL, HPSE, JCHAIN, LIN54, MAPK10, MOB1B, MRPL1, MRPS18C, MTHFD2L, NAA11, NAAA, NKX6-1, NPFFR2, NUP54, ODAPH, PAQR3, PARM1, PCAT4, PF4, PF4V1, PLAC8, PPBP, PPEF2, PRDM8, PRKG2, PTPN13, RASGEF1B, RASSF6, RCHY1, RUFY3, SCARB2, SCD5, SDAD1, SEC31A, SEPTIN11, SHROOM3, SLC10A6, SLC4A4, SOWAHB, STBD1, THAP6, THAP9, TMEM150C, USO1, UTP3, WDFY3 1 0 0 0 0 1
ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ARMS2, ATE1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf88, C10orf90, CALY, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EEF1AKMT2, FAM24A, FAM24B, FAM53B, FANK1, FGFR2, FOXI2, FRG2B, FUOM, GLRX3, GPR26, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INSYN2A, JAKMIP3, KNDC1, LHPP, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PPP2R2D, PRAP1, PSTK, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TEX36, TUBGCP2, UROS, UTF1, VENTX, ZNF511, ZRANB1 1 0 0 0 0 1
ACADVL 0 1 0 0 0 1
ACE2, ACOT9, ADGRG2, AKAP4, ALAS2, AMELX, ANOS1, AP1S2, APEX2, APOO, ARAF, ARHGAP6, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FGD1, FOXP3, FOXR2, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GNL3L, GPKOW, GPM6B, GPR143, GPR173, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, HSD17B10, HUWE1, IL1RAPL1, INE1, INE2, IQSEC2, ITIH6, JADE3, KCND1, KDM5C, KDM6A, KLF8, KLHL15, KLHL34, KRABD4, LANCL3, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEH1, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MIR98, MIRLET7F2, MOSPD2, MPC1L, MSL3, MTRNR2L10, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PCYT1B, PDHA1, PDK3, PFKFB1, PHEX, PHF8, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RIBC1, RP2, RPGR, RPS6KA3, RRAGB, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMC1A, SMPX, SMS, SNORA11, SPACA5, SPACA5B, SPANXN5, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TRO, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, USP11, USP27X, USP51, USP9X, UXT, VCF2, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2 1 0 0 0 0 1
ACE2, ACOT9, ADGRG2, AKAP4, ALAS2, AMELX, ANOS1, AP1S2, APEX2, APOO, ARAF, ARHGAP6, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB9, ATP6AP2, ATXN3L, BCLAF3, BCOR, BEND2, BMP15, BMX, CA5B, CACNA1F, CASK, CBLL2, CCDC120, CCDC22, CCNB3, CDK16, CDKL5, CFAP47, CFP, CHST7, CLCN4, CLCN5, CLTRN, CNKSR2, CTPS2, CXorf38, CXorf58, CYBB, DCAF8L1, DCAF8L2, DDX3X, DDX53, DGKK, DIPK2B, DMD, DUSP21, DYNLT3, EBP, EFHC2, EGFL6, EIF1AX, EIF2S3, ELK1, ERAS, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FAM9A, FAM9B, FAM9C, FANCB, FGD1, FOXP3, FRMPD4, FTHL17, FTSJ1, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GEMIN8, GK, GLOD5, GLRA2, GNL3L, GPKOW, GPM6B, GPR143, GPR173, GPR34, GPR82, GRIPAP1, GRPR, GSPT2, GYG2, H2AP, HCCS, HDAC6, HSD17B10, HUWE1, IL1RAPL1, INE1, INE2, IQSEC2, ITIH6, JADE3, KCND1, KDM5C, KDM6A, KLHL15, KLHL34, KRABD4, LANCL3, LINC01560, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGED1, MAGED2, MAGED4, MAGED4B, MAGIX, MAOA, MAOB, MAP3K15, MAP7D2, MBTPS2, MED14, MID1, MID1IP1, MIR221, MIR222, MIR502, MIR532, MIR98, MIRLET7F2, MOSPD2, MPC1L, MSL3, MTRNR2L10, MXRA5, NDP, NDUFB11, NHS, NLGN4X, NR0B1, NUDT10, NUDT11, NYX, OFD1, OTC, OTUD5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PCYT1B, PDHA1, PDK3, PFKFB1, PHEX, PHF8, PHKA2, PIGA, PIM2, PIR, PLP2, PNPLA4, POLA1, PORCN, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS2, PRRG1, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, RBM10, RBM3, REPS2, RGN, RIBC1, RP2, RPGR, RPS6KA3, RS1, S100G, SAT1, SCML1, SCML2, SH3KBP1, SHROOM2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SMC1A, SMPX, SMS, SNORA11, SPACA5, SPACA5B, SPANXN5, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL5, TAB3, TASL, TBC1D25, TBL1X, TCEANC, TFE3, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TMSB4X, TRAPPC2, TRO, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, USP11, USP27X, USP9X, UXT, VCF2, VCX, VCX2, VCX3A, VCX3B, VEGFD, WAS, WDR13, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XK, YY2, ZFX, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZRSR2 1 0 0 0 0 1
ACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, MERTK, TMEM87B, ZC3H6, ZC3H8 0 1 0 0 0 1
ACP6, BCL9, CHD1L, FAM72C, FMO5, GJA5, GJA8, GPR89B, NBPF15, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, TRH-GTG2-1, TRN-GTT2-7 0 0 1 0 0 1
ACTB 0 0 1 0 0 1
ACTC1, GJD2-DT 0 1 0 0 0 1
ACTG1 0 0 1 0 0 1
ACTL6B 1 0 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CCT8L2, CECR2, CECR3, GAB4, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B, TUBA8, USP18, XKR3 1 0 0 0 0 1
ADAM10 0 0 1 0 0 1
ADAM23 0 0 1 0 0 1
ADAMTS12, AGXT2, AMACR, ANXA2R, BRIX1, C1QTNF3, C5orf22, C5orf34, C6, C7, C9, CAPSL, CARD6, CCDC152, CCL28, CDH6, CPLANE1, DAB2, DNAJC21, DROSHA, EGFLAM, FBXO4, FGF10, FYB1, GDNF, GHR, GOLPH3, HCN1, HMGCS1, IL7R, LIFR, LMBRD2, MROH2B, MRPS30, MTMR12, NADK2, NIPBL, NNT, NPR3, NUP155, OSMR, OXCT1, PAIP1, PDZD2, PLCXD3, PRKAA1, PRLR, PTGER4, RAD1, RAI14, RANBP3L, RICTOR, RIMOC1, RPL37, RXFP3, SELENOP, SKP2, SLC1A3, SLC45A2, SPEF2, SUB1, TARS1, TMEM267, TTC23L, TTC33, UGT3A1, UGT3A2, WDR70, ZFR, ZNF131 1 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH9, CEP72, CFAP90, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX2-DT, IRX4, LINC01194, LINC02899, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PLEKHG4B, PRDM9, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 1 0 0 0 0 1
ADCYAP1, CETN1, CLUL1, COLEC12, ENOSF1, THOC1, TYMS, TYMSOS, USP14, YES1 0 0 1 0 0 1
ADGRB1 0 0 1 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 0 0 1 0 0 1
AFDN 0 0 1 0 0 1
AFF4 0 0 1 0 0 1
AGAP10, AGAP6, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WASHC2A, WDFY4, ZNF488 0 1 0 0 0 1
AGO4 0 0 1 0 0 1
AGTPBP1 1 0 0 0 0 1
AHDC1 1 0 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 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, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, MED15, MRPL40, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SNAP29, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 1 0 0 0 1
AK9, AMD1, CCN6, CDC40, CDK19, DDO, FAM229B, FIG4, FYN, GPR6, GTF3C6, LAMA4, METTL24, MFSD4B, REV3L, RFPL4B, RPF2, SLC16A10, SLC22A16, TRAF3IP2, TUBE1, WASF1, ZBTB24 0 0 1 0 0 1
AKAP6 0 0 1 0 0 1
AKR1A1, ARMH1, ARTN, ATP6V0B, B4GALT2, BEST4, BTBD19, CCDC17, CCDC24, DMAP1, DPH2, DYNLT4, EIF2B3, ERI3, GPBP1L1, HECTD3, HPDL, IPO13, IPP, KIF2C, KLF17, MAST2, MMACHC, MUTYH, NASP, PLK3, PRDX1, PTCH2, RNF220, RPS8, SLC6A9, ST3GAL3, TESK2, TMEM53, TMEM69, TOE1, UROD, ZSWIM5 0 0 1 0 0 1
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 1 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
ALX4 0 1 0 0 0 1
AMELX, ARHGAP6, HCCS, MID1 0 0 1 0 0 1
ANGPTL8, C19orf38, CARM1, CCDC159, CNN1, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, KANK2, LDLR, ODAD3, PRKCSH, RAB3D, RGL3, SMARCA4, SPC24, SWSAP1, TIMM29, TMEM205, TSPAN16, YIPF2, ZNF653 1 0 0 0 0 1
ANK1 1 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 1
ANLN 1 0 0 0 0 1
ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, C11orf40, CARS1, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NLRP6, NUP98, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR52B4, OR52I1, OR52I2, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC25A22, SLC67A1, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 1 0 0 0 0 1
ANOS1 0 0 1 0 0 1
ANXA13, ATAD2, C8orf76, DERL1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, NTAQ1, TBC1D31, TMEM65, TRMT12, ZHX1, ZHX1-C8orf76, ZHX2 0 0 1 0 0 1
APBA2, ARHGAP11B, CHRFAM7A, CHRNA7, ENTREP2, FAN1, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8O, KLF13, MIR211, MTMR10, NSMCE3, OTUD7A, TJP1, TRPM1 1 0 0 0 0 1
APBA2, ENTREP2, GOLGA8M, NSMCE3, TJP1 0 0 1 0 0 1
APC 1 0 0 0 0 1
APOB 1 0 0 0 0 1
AQP4, ASXL3, B4GALT6, CCDC178, CDH2, CHST9, DSC1, DSC2, DSC3, DSG1, DSG2, DSG3, DSG4, DTNA, ELP2, GALNT1, GAREM1, INO80C, KCTD1, KLHL14, MAPRE2, MEP1B, MIR187, NOL4, RMP24, RNF125, RNF138, RPRD1A, SLC25A52, SLC39A6, TAF4B, TRAPPC8, TTR, ZNF24, ZNF396, ZNF397, ZSCAN30 1 0 0 0 0 1
ARF1, LOC126806039 0 1 0 0 0 1
ARF6, LOC130055556 0 0 1 0 0 1
ARHGAP11A, ARHGAP11B, CHRNA7, FAN1, GOLGA8H, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 1
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 1
ARHGAP36, IGSF1 1 0 0 0 0 1
ARHGAP4 0 0 1 0 0 1
ARID1A, LOC129929837 1 0 0 0 0 1
ARID2 1 0 0 0 0 1
ARID2, LOC130007728 0 1 0 0 0 1
ARSA 0 0 1 0 0 1
ARV1 1 0 0 0 0 1
ARV1, LOC129932761 0 0 1 0 0 1
ASTN2 0 0 1 0 0 1
ASXL1 1 0 0 0 0 1
ATAD2B 0 0 1 0 0 1
ATM, C11orf65 0 1 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 1
ATP13A2 0 1 0 0 0 1
ATP2B1 0 1 0 0 0 1
ATP6V1A 1 0 0 0 0 1
ATP7A 0 0 1 0 0 1
ATPAF2, LOC130060409 0 0 1 0 0 1
ATRN 0 0 1 0 0 1
AUTS2 0 1 0 0 0 1
B4GALT7 0 0 1 0 0 1
B4GALT7, LOC129995400 0 1 0 0 0 1
BAZ2B 0 0 1 0 0 1
BCL11A 0 1 0 0 0 1
BCL2L2-PABPN1, PABPN1 0 1 0 0 0 1
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, MELTF, NCBP2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, UBXN7, WDR53, ZDHHC19 1 0 0 0 0 1
BMP2 0 1 0 0 0 1
BMPR1B 0 1 0 0 0 1
BRAT1 1 0 0 0 0 1
BRPF3 0 0 1 0 0 1
BRWD3, HMGN5, SH3BGRL 0 0 1 0 0 1
C6 1 0 0 0 0 1
C6orf141, CENPQ, CILK1, CRISP1, CRISP2, CRISP3, DEFB110, DEFB112, DEFB113, DEFB114, EFHC1, ELOVL5, FAM83B, FBXO9, GCLC, GCM1, GFRAL, GLYATL3, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, HCRTR2, HMGCLL1, IL17A, IL17F, KLHL31, LOC101927189, LRRC1, MCM3, MIR133B, MIR206, MLIP, MMUT, PAQR8, PGK2, PKHD1, RHAG, RN7SK, TFAP2B, TFAP2D, TINAG, TMEM14A, TRAM2 0 1 0 0 0 1
C7 0 1 0 0 0 1
C9orf163, NOTCH1, SEC16A 1 0 0 0 0 1
CACNA1A, LOC126862864 0 1 0 0 0 1
CADM3 0 0 1 0 0 1
CAMLG 0 0 1 0 0 1
CAMTA1 0 0 1 0 0 1
CAPRIN1 0 1 0 0 0 1
CARM1 0 0 1 0 0 1
CASK 1 0 0 0 0 1
CASP10 0 0 1 0 0 1
CCM2 0 0 1 0 0 1
CCM2, NACAD 1 0 0 0 0 1
CD96 0 0 1 0 0 1
CDC42BPB 0 1 0 0 0 1
CDH18 0 0 1 0 0 1
CDK13 1 0 0 0 0 1
CDKL5 0 1 0 0 0 1
CDR2, EEF2K, MOSMO, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 0 1 0 0 0 1
CECR2 0 0 1 0 0 1
CEL 0 1 0 0 0 1
CELF2 0 0 1 0 0 1
CELSR1 0 0 1 0 0 1
CEP85L, NUS1, PLN, SLC35F1 0 0 1 0 0 1
CERT1 0 0 1 0 0 1
CHD3 0 0 1 0 0 1
CHD7, LOC126860403 0 0 1 0 0 1
CHL1, CNTN4, CNTN6 0 0 1 0 0 1
CIZ1, DNM1 1 0 0 0 0 1
CLCNKB 1 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 1
CLTC 0 0 1 0 0 1
CNOT1 0 0 1 0 0 1
CNOT9 1 0 0 0 0 1
CNPY1, DNAJB6, DYNC2I1, EN2, ESYT2, HTR5A, INSIG1, LMBR1, MNX1, NCAPG2, NOM1, PAXIP1, PTPRN2, RBM33, RNF32, SHH, UBE3C, VIPR2 1 0 0 0 0 1
COL11A2 0 0 1 0 0 1
COL1A1 1 0 0 0 0 1
COL1A2 1 0 0 0 0 1
COL3A1 1 0 0 0 0 1
COL6A3 0 0 1 0 0 1
COL7A1 1 0 0 0 0 1
COL9A3 0 1 0 0 0 1
COL9A3, LOC126863084 0 0 1 0 0 1
COPS3, FLCN, MED9, NT5M, PEMT, PLD6, RAI1, RASD1 0 0 1 0 0 1
CRELD1 0 0 1 0 0 1
CSF1R 0 1 0 0 0 1
CSMD1 0 0 0 1 0 1
CSNK2A1, LOC121852996, LOC125384558, LOC126862948, LOC129391147, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 1 0 0 0 0 1
CSTB 1 0 0 0 0 1
CTNNA3 0 0 1 0 0 1
CTR9, LOC126861140 0 0 1 0 0 1
CTSA, LOC130065974 0 0 0 1 0 1
CUL4B 0 0 1 0 0 1
CYFIP2 1 0 0 0 0 1
CYP11A1 1 0 0 0 0 1
DDX41 1 0 0 0 0 1
DDX46 0 0 1 0 0 1
DEAF1 1 0 0 0 0 1
DENND2B 0 0 1 0 0 1
DGKB, ETV1 0 0 1 0 0 1
DHX15 0 0 1 0 0 1
DHX30 1 0 0 0 0 1
DHX40 0 0 1 0 0 1
DIP2C 0 0 1 0 0 1
DLG3 0 1 0 0 0 1
DLK1 1 0 0 0 0 1
DLL4 1 0 0 0 0 1
DMP1, DSPP 0 0 1 0 0 1
DMRT1, DMRT2, DMRT3, DOCK8, KANK1, SMARCA2 1 0 0 0 0 1
DNAH1 0 1 0 0 0 1
DNAJC28 0 0 1 0 0 1
DNM2 0 0 1 0 0 1
DOK1, LOXL3 0 1 0 0 0 1
DPYSL5 0 0 1 0 0 1
DUSP22, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4 1 0 0 0 0 1
DYSF 1 0 0 0 0 1
EDNRB, LOC107882129 0 0 1 0 0 1
EFNB1 0 1 0 0 0 1
EFTUD2 0 1 0 0 0 1
EIF1AX, MAP7D2, RPS6KA3 0 0 1 0 0 1
EIF5A 0 1 0 0 0 1
EPB41L1 0 0 1 0 0 1
ERF 0 1 0 0 0 1
ERV3-1, ZNF107, ZNF117, ZNF138, ZNF273, ZNF679, ZNF680, ZNF727, ZNF735, ZNF736, ZNF92 0 0 1 0 0 1
EZH1 0 0 1 0 0 1
F7 1 0 0 0 0 1
F9 0 0 1 0 0 1
FAM111A, LOC130005740 0 1 0 0 0 1
FAM20A 1 0 0 0 0 1
FAM53A, FGFR3, LETM1, SLBP, TACC3, TMEM129 0 1 0 0 0 1
FASN 0 0 1 0 0 1
FBLN5 0 1 0 0 0 1
FBXO11 0 1 0 0 0 1
FBXO11, MSH6 0 1 0 0 0 1
FBXO28 1 0 0 0 0 1
FER 0 0 1 0 0 1
FGF12 1 0 0 0 0 1
FGF4 0 0 1 0 0 1
FGFR1 1 0 0 0 0 1
FGFR2 0 0 1 0 0 1
FKRP 1 0 0 0 0 1
FLCN 0 1 0 0 0 1
FLNA 0 0 1 0 0 1
FOXN1 0 1 0 0 0 1
FOXO4 0 0 1 0 0 1
FOXP2 0 1 0 0 0 1
FOXP4 0 0 1 0 0 1
FUCA1 1 0 0 0 0 1
GABRA1 0 0 1 0 0 1
GABRA2 0 1 0 0 0 1
GATA5 0 0 1 0 0 1
GJB1, ITGB1BP2, NLGN3, NONO, TAF1, ZMYM3 0 0 1 0 0 1
GLDC 1 0 0 0 0 1
GLDN 0 1 0 0 0 1
GLI1 0 1 0 0 0 1
GNAS 0 0 1 0 0 1
GNB2 0 1 0 0 0 1
GOT2 0 0 1 0 0 1
GOT2, LOC126862363 0 0 1 0 0 1
GPHN 1 0 0 0 0 1
GPSM2 1 0 0 0 0 1
GREB1L, LOC101927521 0 1 0 0 0 1
GRHL3, STPG1 0 0 1 0 0 1
GRID2IP 0 0 1 0 0 1
GRIK4, LOC101929208 0 0 1 0 0 1
GRIK4, LOC130006926 0 0 1 0 0 1
GRIN1 0 1 0 0 0 1
GRIN2D 0 0 1 0 0 1
GRIPAP1 0 0 0 1 0 1
H3-3A 0 1 0 0 0 1
HARS1 0 0 1 0 0 1
HCCS 0 0 1 0 0 1
HMBS 1 0 0 0 0 1
HNF1B 1 0 0 0 0 1
HNRNPUL2, HNRNPUL2-BSCL2 0 0 1 0 0 1
HOXB13 1 0 0 0 0 1
HTT 0 1 0 0 0 1
IGF1R 0 0 1 0 0 1
IGHMBP2 0 0 1 0 0 1
INS 0 0 1 0 0 1
IQGAP1 0 0 1 0 0 1
IQSEC2 0 0 1 0 0 1
IRAK1BP1, PHIP 1 0 0 0 0 1
IRAK4 1 0 0 0 0 1
ITGB3 0 1 0 0 0 1
JMJD1C 0 0 1 0 0 1
KAT2B 0 0 1 0 0 1
KAT6B 1 0 0 0 0 1
KCNB1 0 0 1 0 0 1
KCNH2 0 1 0 0 0 1
KCNK4, KCNK4-CATSPERZ 0 1 0 0 0 1
KCNQ3 1 0 0 0 0 1
KDM1A 0 0 1 0 0 1
KDM3B 0 0 1 0 0 1
KDM5A 0 0 1 0 0 1
KDM5C 1 0 0 0 0 1
KDM6A 0 1 0 0 0 1
KDM6B, LOC121587574 0 1 0 0 0 1
KIDINS220 0 0 1 0 0 1
KIF13A 0 0 1 0 0 1
KIF26B, SMYD3 0 0 1 0 0 1
KIF4A 0 0 1 0 0 1
KLHL15 0 0 1 0 0 1
KLHL20 0 0 1 0 0 1
KMT2A, TTC36 0 0 1 0 0 1
KMT2C 0 1 0 0 0 1
KMT5B 0 1 0 0 0 1
KRAS 1 0 0 0 0 1
KRIT1 0 1 0 0 0 1
L1CAM 1 0 0 0 0 1
LAMB3 0 0 1 0 0 1
LMTK3 0 0 1 0 0 1
LOC110011216, PHOX2B 0 1 0 0 0 1
LOC125418073, TTC3 0 0 1 0 0 1
LOC126806423, TTN 1 0 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 1
LOC126807011, RBPJ 0 1 0 0 0 1
LOC126861896, MYH6 0 0 1 0 0 1
LOC126861898, MYH7 0 0 1 0 0 1
LOC126862611, TLK2 1 0 0 0 0 1
LOC126862673, TBCD 0 1 0 0 0 1
LOC126862765, ZNF532 0 0 1 0 0 1
LOC126863275, MED12 0 1 0 0 0 1
LOC129934069, SPR 0 0 1 0 0 1
LOC129935026, TBR1 0 1 0 0 0 1
LOC130005368, RRAS2 1 0 0 0 0 1
LOC130009452, PAN3 0 0 1 0 0 1
LOC130058907, SLC5A2 0 1 0 0 0 1
LOXL3 0 1 0 0 0 1
LRP2 0 0 1 0 0 1
LRRC7 0 0 1 0 0 1
MACF1 0 0 1 0 0 1
MADD 0 1 0 0 0 1
MAP3K12 0 0 1 0 0 1
MAPK8IP3 0 0 1 0 0 1
MAPT 0 0 1 0 0 1
MC4R 1 0 0 0 0 1
MCF2 0 0 1 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 1
MED12L 0 1 0 0 0 1
MED13 1 0 0 0 0 1
MFF 1 0 0 0 0 1
MID1 0 0 1 0 0 1
MID2 0 0 1 0 0 1
MINK1 0 0 1 0 0 1
MITF 0 1 0 0 0 1
MMP2 0 0 1 0 0 1
MMP20 1 0 0 0 0 1
MORC4 0 0 1 0 0 1
MPG, NPRL3, POLR3K, RHBDF1, SNRNP25 0 0 1 0 0 1
MSC, TRPA1 0 0 1 0 0 1
MSR1 0 0 1 0 0 1
MT-ND1 0 1 0 0 0 1
MT-ND5 1 0 0 0 0 1
MT-TL1 1 0 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 0 1
MYCN, MYCNOS 1 0 0 0 0 1
MYH10 0 0 1 0 0 1
MYH6 0 0 1 0 0 1
MYOD1 1 0 0 0 0 1
MYT1L 0 1 0 0 0 1
NACC1 0 0 1 0 0 1
NADSYN1 0 1 0 0 0 1
NALCN 0 0 1 0 0 1
NCAM2 0 0 1 0 0 1
NCAPH2, SCO2 0 1 0 0 0 1
NDP 1 0 0 0 0 1
NET1 0 0 1 0 0 1
NEXMIF 1 0 0 0 0 1
NFIA 1 0 0 0 0 1
NFKB2 0 0 1 0 0 1
NIPBL 0 0 1 0 0 1
NKRF, STEEP1, UBE2A 1 0 0 0 0 1
NKX2-5 1 0 0 0 0 1
NOG 1 0 0 0 0 1
NONO 1 0 0 0 0 1
NOTCH3 0 1 0 0 0 1
NTRK2 1 0 0 0 0 1
OCRL 1 0 0 0 0 1
OPHN1 0 1 0 0 0 1
PACS1 1 0 0 0 0 1
PAK2 0 0 1 0 0 1
PAK3 0 0 1 0 0 1
PALB2 1 0 0 0 0 1
PAX5 0 0 1 0 0 1
PBX1 1 0 0 0 0 1
PCDH11Y, RPS4Y1, SRY, TGIF2LY, ZFY 1 0 0 0 0 1
PCDH19 0 0 1 0 0 1
PEX26 1 0 0 0 0 1
PFN1 0 0 1 0 0 1
PHF14 0 0 1 0 0 1
PHF6 1 0 0 0 0 1
PHIP 0 1 0 0 0 1
PHLPP1 0 0 1 0 0 1
PIAS3 0 0 1 0 0 1
PIGA 0 1 0 0 0 1
PIGN 0 1 0 0 0 1
PIK3CD 0 0 1 0 0 1
PKD2 1 0 0 0 0 1
PLCD1 0 0 1 0 0 1
PMP22 0 0 1 0 0 1
PNPLA4, PUDP, STS, VCX 1 0 0 0 0 1
POLA1 0 0 1 0 0 1
POLR2F, SOX10 0 1 0 0 0 1
PPP1R10 0 0 1 0 0 1
PREPL 0 0 1 0 0 1
PRF1 1 0 0 0 0 1
PRKAG2 0 0 1 0 0 1
PRKD1 0 0 1 0 0 1
PRPF8, RILP, SCARF1, SLC43A2 0 0 1 0 0 1
PRR12 0 1 0 0 0 1
PRTG 0 0 1 0 0 1
PSEN1 0 0 1 0 0 1
PSMD1 0 0 1 0 0 1
PTBP1 1 0 0 0 0 1
PTCHD1 0 1 0 0 0 1
PTK2 0 0 1 0 0 1
PTPRM 0 0 1 0 0 1
PTPRU 0 0 1 0 0 1
PTRH2 0 0 1 0 0 1
PUM1 1 0 0 0 0 1
RABGAP1 0 0 1 0 0 1
RAC1 0 0 1 0 0 1
RAF1 0 1 0 0 0 1
RBMX 0 0 1 0 0 1
RERE 0 0 1 0 0 1
RFXANK 0 1 0 0 0 1
RHOA 0 0 1 0 0 1
RINT1 0 0 1 0 0 1
RIT1 1 0 0 0 0 1
RNF128 0 0 1 0 0 1
RNF13 0 0 1 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 0 1
ROCK1 0 0 1 0 0 1
ROCK2 0 0 1 0 0 1
RORA 0 1 0 0 0 1
RORB 0 1 0 0 0 1
RPH3A 0 0 1 0 0 1
RPS6KA3 0 0 1 0 0 1
RUFY3 0 0 1 0 0 1
RYR2 0 0 1 0 0 1
RYR2, ZP4 0 0 1 0 0 1
SALL4 1 0 0 0 0 1
SAMD4B 0 0 1 0 0 1
SCAF4 0 0 1 0 0 1
SCN3A 0 0 1 0 0 1
SDHA 1 0 0 0 0 1
SDHB 1 0 0 0 0 1
SETBP1 1 0 0 0 0 1
SETD5 0 0 1 0 0 1
SF3B1 0 0 1 0 0 1
SGTA 0 0 1 0 0 1
SHANK1 1 0 0 0 0 1
SHANK2 1 0 0 0 0 1
SHH 1 0 0 0 0 1
SLC18A2 0 1 0 0 0 1
SLC3A1 1 0 0 0 0 1
SLC4A1 1 0 0 0 0 1
SLC6A1 0 0 1 0 0 1
SLC6A5 0 1 0 0 0 1
SLC6A8 0 1 0 0 0 1
SLC7A9 1 0 0 0 0 1
SLC9A6 0 1 0 0 0 1
SLITRK4 0 0 1 0 0 1
SMC3 0 1 0 0 0 1
SMCHD1 0 0 1 0 0 1
SMS 0 0 1 0 0 1
SMURF1 0 0 1 0 0 1
SNRPB 1 0 0 0 0 1
SORL1 0 0 0 1 0 1
SP4 0 0 1 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 1
SPG7 1 0 0 0 0 1
SPR 1 0 0 0 0 1
SPTAN1 0 0 1 0 0 1
SPTLC1 0 1 0 0 0 1
SRCAP 1 0 0 0 0 1
SSTR5 0 0 1 0 0 1
STEEP1 0 0 1 0 0 1
STING1 0 1 0 0 0 1
SUZ12 1 0 0 0 0 1
SYNE1 0 0 1 0 0 1
SYNE2 0 0 1 0 0 1
SYNJ2 0 0 1 0 0 1
SYT1 0 1 0 0 0 1
TAB2 0 0 1 0 0 1
TAF1 0 0 1 0 0 1
TAPT1 0 0 1 0 0 1
TBCD, ZNF750 0 0 1 0 0 1
TBX5 1 0 0 0 0 1
TCF20 1 0 0 0 0 1
TET3 0 0 1 0 0 1
TGDS 1 0 0 0 0 1
THOC2 0 0 1 0 0 1
TK2 1 0 0 0 0 1
TLN1 0 0 1 0 0 1
TM2D3 0 0 1 0 0 1
TMCO1 1 0 0 0 0 1
TMEM132D 0 0 1 0 0 1
TMEM43 0 0 1 0 0 1
TMEM70 1 0 0 0 0 1
TNK1 0 0 1 0 0 1
TNNT3 0 1 0 0 0 1
TOP2B 0 1 0 0 0 1
TPM3 0 0 1 0 0 1
TRAF7 0 0 1 0 0 1
TRAPPC4 1 0 0 0 0 1
TRIM8 0 0 1 0 0 1
TRIML1, TRIML2, ZFP42 0 0 1 0 0 1
TRPC5 0 0 1 0 0 1
TRPM3 1 0 0 0 0 1
TSC1 1 0 0 0 0 1
TTBK1 0 0 1 0 0 1
TTPA 0 1 0 0 0 1
TUBB2A 0 0 1 0 0 1
UBE2I 0 0 1 0 0 1
UFSP2 0 0 1 0 0 1
UNC50 0 0 1 0 0 1
UPF1 0 0 1 0 0 1
USP11 0 0 1 0 0 1
USP9X 0 0 1 0 0 1
VAV1 0 0 1 0 0 1
WAPL 0 0 1 0 0 1
WDR44 0 0 1 0 0 1
WNK3 0 1 0 0 0 1
XYLT2 0 1 0 0 0 1
YWHAZ 0 0 1 0 0 1
ZBTB10 0 0 1 0 0 1
ZC4H2 1 0 0 0 0 1
ZMYM3 0 0 1 0 0 1
ZMYND11 1 0 0 0 0 1
ZNF236 0 0 1 0 0 1
ZNF292 0 0 1 0 0 1
ZNF462 0 0 1 0 0 1
ZNF536 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 579
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
See cases 54 12 62 0 0 128
not provided 18 11 50 1 0 80
not specified 3 7 40 1 1 52
Breast-ovarian cancer, familial, susceptibility to, 2 16 1 0 0 0 17
CHARGE syndrome 9 0 3 0 0 12
Noonan syndrome 1 6 4 0 1 0 11
Breast-ovarian cancer, familial, susceptibility to, 1 10 0 0 0 0 10
KBG syndrome 6 1 2 0 0 9
Cystic fibrosis 7 1 0 0 0 8
Long QT syndrome 1 5 2 1 0 0 8
Severe myoclonic epilepsy in infancy 4 0 4 0 0 8
Hypertrophic cardiomyopathy 1 2 3 2 0 0 7
Kabuki syndrome 1 3 0 4 0 0 7
Arrhythmogenic right ventricular dysplasia 9 6 0 0 0 0 6
Coffin-Siris syndrome 1 5 1 0 0 0 6
Developmental and epileptic encephalopathy, 13 1 2 3 0 0 6
Familial adenomatous polyposis 2 5 1 0 0 0 6
Hypertrophic cardiomyopathy 4 6 1 0 0 0 6
Lynch syndrome 4 6 0 0 0 0 6
Malignant hyperthermia, susceptibility to, 1 3 2 1 0 0 6
Pitt-Hopkins syndrome 4 1 1 0 0 6
Polycystic kidney disease 4 3 1 2 0 0 6
Developmental and epileptic encephalopathy, 11 2 2 1 0 0 5
Early-onset dementia of unclear type 0 0 3 2 0 5
Hypercholesterolemia, familial, 1 4 1 0 0 0 5
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 3 0 2 0 0 5
Phelan-McDermid syndrome 3 0 2 0 0 5
Primary degenerative dementia of the Alzheimer type, presenile onset 1 0 4 0 0 5
Pyruvate dehydrogenase E1-alpha deficiency 1 2 2 0 0 5
Schaaf-Yang syndrome 3 1 1 0 0 5
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 3 0 1 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 2 2 0 0 4
Central core myopathy 3 0 1 0 0 4
Developmental and epileptic encephalopathy, 7 3 1 0 0 0 4
Episodic ataxia type 2 1 2 1 0 0 4
Familial cancer of breast 2 1 1 0 0 4
Intellectual disability, autosomal dominant 13 1 2 1 0 0 4
Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 0 3 0 0 4
Kleefstra syndrome 1 3 1 0 0 0 4
Lynch syndrome 5 3 1 0 0 0 4
Neurofibromatosis, type 1 3 0 1 0 0 4
PMM2-congenital disorder of glycosylation 1 3 0 0 0 4
Primary ciliary dyskinesia 3 3 0 1 0 0 4
Rett syndrome 4 0 0 0 0 4
Rubinstein-Taybi syndrome due to CREBBP mutations 1 3 0 0 0 4
Skraban-Deardorff syndrome 0 3 1 0 0 4
Smith-Lemli-Opitz syndrome 2 0 2 0 0 4
Stickler syndrome type 1 1 3 0 0 0 4
Structural heart defects and renal anomalies syndrome 0 3 1 0 0 4
Tay-Sachs disease 4 0 0 0 0 4
Au-Kline syndrome 0 3 0 0 0 3
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 3 0 0 0 0 3
Childhood onset GLUT1 deficiency syndrome 2 0 1 2 0 0 3
Chromosome 2q32-q33 deletion syndrome 3 0 0 0 0 3
Colorectal cancer, hereditary nonpolyposis, type 2 3 0 0 0 0 3
Congenital myotonia, autosomal dominant form 2 1 0 0 0 3
Developmental and epileptic encephalopathy, 42 0 1 2 0 0 3
Developmental and epileptic encephalopathy, 54 1 1 1 0 0 3
Developmental and epileptic encephalopathy, 69 0 0 3 0 0 3
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 2 1 0 0 3
Encephalopathy due to GLUT1 deficiency 1 1 1 0 0 3
FOXG1 disorder 2 1 0 0 0 3
Finnish congenital nephrotic syndrome 2 0 1 0 0 3
Hypotonia, ataxia, and delayed development syndrome 3 0 0 0 0 3
Intellectual disability, X-linked 102 2 1 0 0 0 3
Intellectual disability, X-linked syndromic, Turner type 0 1 2 0 0 3
Intellectual disability, autosomal dominant 50 3 0 0 0 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 1 0 0 0 3
Long QT syndrome 3 1 1 1 0 0 3
Merosin deficient congenital muscular dystrophy 0 0 3 0 0 3
Methylmalonic acidemia with homocystinuria, type cblX 1 0 2 0 0 3
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 2 0 0 3
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 0 2 0 0 3
Moderate intellectual disability 0 0 0 3 0 3
Mowat-Wilson syndrome 2 1 0 0 0 3
Nemaline myopathy 8 1 1 1 0 0 3
Neurodegeneration with brain iron accumulation 5 1 2 0 0 0 3
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 2 0 0 3
Orofaciodigital syndrome type 14 0 1 2 0 0 3
Osteochondritis dissecans 0 1 2 0 0 3
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 2 0 0 0 3
Renal carnitine transport defect 3 0 0 0 0 3
Renal hypodysplasia/aplasia 3 2 1 0 0 0 3
Spondyloepiphyseal dysplasia, Stanescu type 0 1 2 0 0 3
Wiedemann-Steiner syndrome 1 0 2 0 0 3
2-hydroxyglutaric aciduria 1 1 0 0 0 2
3-methylglutaconic aciduria, type VIIB 2 0 0 0 0 2
8q24.3 microdeletion syndrome 2 1 0 0 0 2
ALG1-congenital disorder of glycosylation 0 2 0 0 0 2
ALG12-congenital disorder of glycosylation 0 0 2 0 0 2
Aicardi-Goutieres syndrome 7 0 1 1 0 0 2
Alagille syndrome due to a JAG1 point mutation 0 1 1 0 0 2
Alkuraya-Kucinskas syndrome 0 0 2 0 0 2
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 1 1 0 0 0 2
Arthrogryposis multiplex congenita 5 0 0 2 0 0 2
Atrial septal defect 3 0 0 2 0 0 2
Autism; Atrial septal defect; Autistic behavior; Cognitive impairment; Delayed speech and language development; Strabismus 0 0 2 0 0 2
Autism; Autistic behavior; Delayed speech and language development; Premature birth; Moderate intellectual disability 0 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2K 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2T 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 18B 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 1 1 0 0 0 2
Autosomal recessive spinocerebellar ataxia 15 0 0 2 0 0 2
Autosomal recessive spinocerebellar ataxia 20 2 0 0 0 0 2
Bartter disease type 3 2 0 0 0 0 2
Branchiooculofacial syndrome 0 2 0 0 0 2
CBL-related disorder 0 1 1 0 0 2
Cardiac-urogenital syndrome 1 1 0 0 0 2
Cardiofaciocutaneous syndrome 1 2 0 0 0 0 2
Cardiomyopathy, dilated, 2D 0 1 1 0 0 2
Cardiospondylocarpofacial syndrome 0 1 1 0 0 2
Cataract 18 2 0 0 0 0 2
Cerebellar ataxia; Delayed speech and language development; Moderate intellectual disability; Hypotonia 0 0 2 0 0 2
Cerebrooculofacioskeletal syndrome 2 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2T 0 0 2 0 0 2
Charcot-Marie-Tooth disease axonal type 2X 2 0 0 0 0 2
Complex cortical dysplasia with other brain malformations 6 1 0 1 0 0 2
Complex cortical dysplasia with other brain malformations 7 0 1 1 0 0 2
Congenital central hypoventilation 1 1 0 0 0 2
Congenital fibrosis of extraocular muscles type 1 0 1 1 0 0 2
Congenital muscular hypertrophy-cerebral syndrome 0 1 1 0 0 2
Cornelia de Lange syndrome 5 1 1 0 0 0 2
Corticobasal syndrome 0 0 2 0 0 2
Cystinuria 2 0 0 0 0 2
DYRK1A-related intellectual disability syndrome 2 0 0 0 0 2
Desmosterolosis 0 0 2 0 0 2
Developmental and epileptic encephalopathy 6B 0 1 1 0 0 2
Developmental and epileptic encephalopathy 94 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 1 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 14 0 0 0 2 0 2
Developmental and epileptic encephalopathy, 38 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 4 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 49 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 82 0 0 2 0 0 2
Dilated cardiomyopathy 1BB 1 1 0 0 0 2
Dilated cardiomyopathy 1G 2 0 0 0 0 2
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 1 1 0 0 0 2
Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 0 1 0 0 2
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 2 0 0 0 2
Ehlers-Danlos syndrome, spondylodysplastic type, 1 0 1 1 0 0 2
Ellis-van Creveld syndrome 1 1 0 0 0 2
Encephalopathy, acute, infection-induced, susceptibility to, 9 0 0 2 0 0 2
Epilepsy, familial focal, with variable foci 1 0 1 1 0 0 2
Epiphyseal dysplasia, multiple, 3 0 1 1 0 0 2
Fabry disease 2 0 0 0 0 2
Familial cancer of breast; Ataxia-telangiectasia syndrome 1 1 0 0 0 2
Familial infantile myasthenia 0 0 2 0 0 2
Familial medullary thyroid carcinoma 1 1 0 0 0 2
Frontotemporal dementia 0 1 1 0 0 2
GM1 gangliosidosis type 2 2 0 0 0 0 2
Gillespie syndrome 0 1 1 0 0 2
Glycogen storage disease, type II 1 0 1 0 0 2
Greig cephalopolysyndactyly syndrome 1 0 1 0 0 2
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 2 0 0 2
Hajdu-Cheney syndrome 2 0 0 0 0 2
Heart defect - tongue hamartoma - polysyndactyly syndrome 1 0 1 0 0 2
Heimler syndrome 1 1 0 1 0 0 2
Hereditary spastic paraplegia 11 2 0 0 0 0 2
Hereditary spastic paraplegia 47 1 0 1 0 0 2
Hirschsprung disease, susceptibility to, 1 1 0 1 0 0 2
Houge-Janssens syndrome 2 1 1 0 0 0 2
Hydrocephalus, nonsyndromic, autosomal recessive 2 2 0 0 0 0 2
Hyperphosphatasia with intellectual disability syndrome 2 0 1 1 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 2 0 0 0 2
Immunodeficiency 91 and hyperinflammation 0 0 2 0 0 2
Imperforate anus; Atrial septal defect; Psoriasiform dermatitis; 2-3 toe syndactyly; Abnormal facial shape; Delayed speech and language development; Single umbilical artery; Arthritis; Moderate intellectual disability; Delayed skeletal maturation; Vertebral fusion; Coronary artery atherosclerosis; Peripheral pulmonary artery stenosis; Absent/hypoplastic coccyx; Ventricular septal defect 0 0 2 0 0 2
Infantile liver failure syndrome 2 2 0 0 0 0 2
Infantile nephronophthisis 0 2 0 0 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 2 0 0 0 2
Intellectual developmental disorder with dysmorphic facies and ptosis 0 2 0 0 0 2
Intellectual disability, autosomal dominant 16 1 0 1 0 0 2
Intellectual disability, autosomal dominant 22 0 2 0 0 0 2
Intellectual disability, autosomal dominant 5 1 1 0 0 0 2
Intellectual disability, autosomal dominant 52 0 1 1 0 0 2
Intellectual disability, autosomal dominant 9 2 0 0 0 0 2
Intellectual disability, autosomal recessive 13 0 0 2 0 0 2
Joubert syndrome 23 2 0 0 0 0 2
Joubert syndrome 3 0 1 1 0 0 2
Lamb-Shaffer syndrome 1 0 1 0 0 2
Lethal congenital contracture syndrome 7 2 0 0 0 0 2
Leukoencephalopathy with calcifications and cysts 1 0 1 0 0 2
Lymphatic malformation 6 1 0 1 0 0 2
Lynch syndrome 1 2 0 0 0 0 2
MELAS syndrome 2 0 0 0 0 2
MIRAGE syndrome 1 1 0 0 0 2
Macrocephaly; Abnormality of the face; Moderate intellectual disability; Short 5th metacarpal; Clinodactyly 0 0 2 0 0 2
Marfan syndrome 1 0 1 0 0 2
Menke-Hennekam syndrome 1 1 1 0 0 0 2
Microcephaly 5, primary, autosomal recessive 0 0 0 2 0 2
Mitochondrial complex III deficiency nuclear type 2 1 0 1 0 0 2
Multiple endocrine neoplasia type 2A 2 0 0 0 0 2
Multiple gastrointestinal atresias 0 2 0 0 0 2
Myopia 28, autosomal recessive 0 2 0 0 0 2
Nemaline myopathy 2 0 1 1 0 0 2
Neurodegeneration with brain iron accumulation 6 0 1 1 0 0 2
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 2 0 0 0 0 2
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 1 1 0 0 0 2
Neuronal ceroid lipofuscinosis 1 1 1 0 0 0 2
Neuronal ceroid lipofuscinosis 2 2 0 0 0 0 2
Nicolaides-Baraitser syndrome 1 1 0 0 0 2
Noonan syndrome-like disorder with loose anagen hair 1 1 0 1 0 0 2
Oculocerebrofacial syndrome, Kaufman type 2 0 0 0 0 2
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 2 0 0 0 0 2
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 0 2 0 0 2
Paramyotonia congenita of Von Eulenburg 2 0 0 0 0 2
Pendred syndrome 1 1 0 0 0 2
Pitt-Hopkins-like syndrome 2 0 0 0 2 0 2
Platelet-type bleeding disorder 15 1 1 0 0 0 2
Pontocerebellar hypoplasia type 4 1 0 1 0 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 1 0 0 0 2
Seizure; Delayed speech and language development; Microcephaly; Severe intellectual disability; Hypotonia 0 0 2 0 0 2
Seizure; Hypospadias; Tracheomalacia; Abnormal facial shape; Delayed speech and language development; Moderate intellectual disability; Periventricular leukomalacia; Hypotonia; Encephalomalacia 0 0 2 0 0 2
Seizure; Moderate intellectual disability 0 0 2 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 1 0 0 2
Short stature, microcephaly, and endocrine dysfunction 0 0 2 0 0 2
Short-rib thoracic dysplasia 13 with or without polydactyly 0 1 1 0 0 2
Sifrim-Hitz-Weiss syndrome 0 1 1 0 0 2
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 2 0 0 0 0 2
Spasticity; Delayed speech and language development; Moderate intellectual disability; Attention deficit hyperactivity disorder; Hypertensive disorder 0 0 2 0 0 2
Spinocerebellar ataxia type 15/16 1 0 1 0 0 2
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 2 0 0 2
Sudden cardiac failure, infantile 1 1 0 0 0 2
Syndromic X-linked intellectual disability 94 0 0 0 2 0 2
Syndromic X-linked intellectual disability Raymond type 0 1 1 0 0 2
TELO2-related intellectual disability-neurodevelopmental disorder 1 1 0 0 0 2
Tatton-Brown-Rahman overgrowth syndrome 0 1 1 0 0 2
Townes-Brocks syndrome 1 0 1 1 0 0 2
Trichohepatoenteric syndrome 1 0 1 1 0 0 2
Tuberous sclerosis 2 0 0 2 0 0 2
Tyrosinase-positive oculocutaneous albinism 2 0 0 0 0 2
Ullrich congenital muscular dystrophy 2 0 1 1 0 0 2
Van Maldergem syndrome 1 0 0 0 2 0 2
Wilson disease 0 2 0 0 0 2
beta Thalassemia 2 0 0 0 0 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 0 1
Acquired polycythemia vera 0 0 1 0 0 1
Acrocephalosyndactyly type I 0 0 1 0 0 1
Acromesomelic dysplasia 3 0 1 0 0 0 1
Acute intermittent porphyria 1 0 0 0 0 1
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome 0 0 1 0 0 1
Adams-Oliver syndrome 3 0 1 0 0 0 1
Adams-Oliver syndrome 6 1 0 0 0 0 1
Adrenoleukodystrophy 1 0 0 0 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 0 1 0 0 1
Alzheimer disease 3; Frontotemporal dementia; Pick disease 0 0 1 0 0 1
Alzheimer disease 9 1 0 0 0 0 1
Amelogenesis imperfecta hypomaturation type 2A2 1 0 0 0 0 1
Amelogenesis imperfecta type 1A 0 0 1 0 0 1
Amelogenesis imperfecta type 1G 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 18 0 0 1 0 0 1
Aniridia 1 1 0 0 0 0 1
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 10 1 0 0 0 0 1
Arthrogryposis multiplex congenita 3, myogenic type 0 0 1 0 0 1
Arthrogryposis, distal, type 2B2 0 1 0 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 0 1
Atrial septal defect 9 0 0 1 0 0 1
Atrioventricular septal defect, susceptibility to, 2 0 0 1 0 0 1
Atrophia bulborum hereditaria 1 0 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 0 0 1
Autism, susceptibility to, 17 1 0 0 0 0 1
Autism, susceptibility to, X-linked 4 0 1 0 0 0 1
Autism; Autistic behavior; Delayed speech and language development; Anxiety; Joint laxity; Mild global developmental delay 0 0 1 0 0 1
Autism; Autistic behavior; Seizure; Moderate intellectual disability 0 1 0 0 0 1
Autism; Colitis; Cranial asymmetry; Delayed speech and language development 0 0 1 0 0 1
Autism; Congenital laryngomalacia; Retrognathia; Abnormal facial shape; Delayed speech and language development; Subglottic stenosis; Moderate intellectual disability; Sleep apnea; Motor stereotypies 0 1 0 0 0 1
Autism; Epicanthus; Failure to thrive; Dental crowding; High palate; Hypertonia; Deeply set eye; Mandibular prognathia; Bulbous nose; Shallow orbits; Hypotonia 0 0 1 0 0 1
Autism; Global developmental delay; Thrombocytopenia 0 0 1 0 0 1
Autism; Precocious puberty; Autistic behavior; Expressive language delay; Hyperactivity; Hearing impairment; Pes planus; Macrocephaly; Anxiety; Tremor; Attention deficit hyperactivity disorder 0 0 1 0 0 1
Autistic behavior; Short stature; Atypical behavior; Delayed speech and language development; Mild global developmental delay; Attention deficit hyperactivity disorder 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 2A 0 0 1 0 0 1
Autosomal dominant Charcot-Marie-Tooth disease type 2W 0 0 1 0 0 1
Autosomal dominant Opitz G/BBB syndrome 0 0 1 0 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 0 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 1 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 0 1 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 23 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 0 0 0 1
Axenfeld-Rieger syndrome type 3 0 0 1 0 0 1
Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 0 1 0 0 0 1
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 1 0 0 0 1
Baraitser-Winter syndrome 1 0 0 1 0 0 1
Baraitser-winter syndrome 2 0 0 1 0 0 1
Beck-Fahrner syndrome 0 0 1 0 0 1
Bethlem myopathy 1A 0 0 1 0 0 1
Bleeding disorder, platelet-type, 24 0 1 0 0 0 1
Bohring-Opitz syndrome 1 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 0 1
Brain dopamine-serotonin vesicular transport disease 0 1 0 0 0 1
Brain malformations with or without urinary tract defects 1 0 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 0 1
Brugada syndrome 1 0 1 0 0 0 1
C syndrome 0 0 1 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 0 1
Cardiac arrhythmia; Cerebellar ataxia; Seizure; Sacral dimple; Abnormal facial shape; Delayed speech and language development; Abnormal testis morphology; Decreased response to growth hormone stimulation test; Bradycardia; Moderate intellectual disability; Aplasia/Hypoplasia of the macula; Hypotonia 0 0 1 0 0 1
Cardiac arrhythmia; Obesity; Hearing impairment; Trigonocephaly; Sleep apnea; Broad eyebrow; Midface retrusion 0 0 1 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 1
Catel-Manzke syndrome 1 0 0 0 0 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 0 1 0 0 0 1
Cerebral cavernous malformation 0 1 0 0 0 1
Cerebral cavernous malformation 2 0 0 1 0 0 1
Cerebro-costo-mandibular syndrome 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2FF 0 0 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1H 0 1 0 0 0 1
Childhood apraxia of speech 0 1 0 0 0 1
Chopra-Amiel-Gordon syndrome 0 1 0 0 0 1
Christianson syndrome 0 1 0 0 0 1
Chudley-McCullough syndrome 1 0 0 0 0 1
Ciliary dyskinesia, primary, 37 0 1 0 0 0 1
Clubfoot; Polyhydramnios; Abnormality of the outer ear; Large for gestational age; Macrocephaly at birth; Ventricular septal defect 0 0 1 0 0 1
Coffin-Lowry syndrome 0 0 1 0 0 1
Coffin-Siris syndrome 6 0 1 0 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 0 0 1
Combined deficiency of sialidase AND beta galactosidase 0 0 0 1 0 1
Complement component 6 deficiency 1 0 0 0 0 1
Complement component 7 deficiency 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 0 1 0 0 1
Complex lethal osteochondrodysplasia 0 0 1 0 0 1
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 0 0 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 0 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 0 1
Congenital disorder of glycosylation, type IIz 0 0 1 0 0 1
Congenital factor VII deficiency 1 0 0 0 0 1
Congenital heart defects and ectodermal dysplasia 0 0 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 0 1
Congenital heart defects, multiple types, 2 0 0 1 0 0 1
Congenital heart defects, multiple types, 5 0 0 1 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 0 0 1 0 0 1
Congenital myopathy 4B, autosomal recessive 0 0 1 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 0 1
Cowden syndrome 1 1 0 0 0 0 1
Cowden syndrome 5 0 0 1 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 1 0 0 0 0 1
Craniofrontonasal syndrome 0 1 0 0 0 1
Creatine transporter deficiency 0 1 0 0 0 1
DDX41-related hematologic malignancy predisposition syndrome 1 0 0 0 0 1
Deeah syndrome 0 1 0 0 0 1
Delayed speech and language development; Falls 0 0 1 0 0 1
Dent disease type 2 1 0 0 0 0 1
Dentinogenesis imperfecta type 2 0 0 1 0 0 1
Developmental and epileptic encephalopathy 100 1 0 0 0 0 1
Developmental and epileptic encephalopathy 106 0 0 1 0 0 1
Developmental and epileptic encephalopathy 93 1 0 0 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 19 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 26 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 27 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 31A 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 47 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 58 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 65 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 78 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 9 0 0 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 1 0 0 0 1
Diabetes mellitus, permanent neonatal 4 0 0 1 0 0 1
Dias-Logan syndrome 0 1 0 0 0 1
Diets-Jongmans syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 1R 0 1 0 0 0 1
Donnai-Barrow syndrome 0 0 1 0 0 1
Duane-radial ray syndrome 1 0 0 0 0 1
Early-onset generalized limb-onset dystonia 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 0 1 0 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 0 0 0 0 1
Epilepsy with myoclonic atonic seizures 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 1 0 0 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 1 0 0 0 1
Esotropia; Hearing impairment; Abnormal facial shape; Tremor; Midface retrusion; Thrombocytopenia; Clinodactyly; Finger clinodactyly 0 0 1 0 0 1
FG syndrome 1 0 1 0 0 0 1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 1 0 0 0 1
Failure to thrive; Hypotonia 0 0 1 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 0 1
Familial cancer of breast; Familial prostate cancer; Colorectal cancer 1 0 0 0 0 1
Familial episodic pain syndrome with predominantly upper body involvement 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 0 1
Familial hypobetalipoproteinemia 1 1 0 0 0 0 1
Familial isolated deficiency of vitamin E 0 1 0 0 0 1
Familial renal glucosuria 0 1 0 0 0 1
Fanconi anemia complementation group N 1 0 0 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 1 0 0 1
Faundes-Banka syndrome 0 1 0 0 0 1
Feingold syndrome type 1 1 0 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 0 1
Focal segmental glomerulosclerosis 8 1 0 0 0 0 1
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 0 0 1 0 0 1
Fucosidosis 1 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 1 0 0 0 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 1 0 0 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 0 1
Glycine encephalopathy 1 0 0 0 0 1
Hb SS disease 1 0 0 0 0 1
Hereditary factor IX deficiency disease 0 0 1 0 0 1
Hereditary spastic paraplegia 7 1 0 0 0 0 1
Hereditary spastic paraplegia 9A 0 0 1 0 0 1
Hereditary spherocytosis type 1 1 0 0 0 0 1
Hereditary spherocytosis type 4 1 0 0 0 0 1
Holoprosencephaly 3 1 0 0 0 0 1
Holt-Oram syndrome 1 0 0 0 0 1
Houge-Janssens syndrome 1 1 0 0 0 0 1
Huntington disease 0 1 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 0 1
Hyperekplexia 3 0 1 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 1 0 0 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 0 1 0 0 1
Immunodeficiency 14b, autosomal recessive 0 0 1 0 0 1
Immunodeficiency 67 1 0 0 0 0 1
Immunodeficiency, common variable, 10 0 0 1 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 0 1
Infantile liver failure syndrome 3 0 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 0 0 0 1
Intellectual developmental disorder with severe speech and ambulation defects 1 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 66 0 1 0 0 0 1
Intellectual disability, X-linked 1 0 0 1 0 0 1
Intellectual disability, X-linked 100 0 0 1 0 0 1
Intellectual disability, X-linked 101 0 0 1 0 0 1
Intellectual disability, X-linked 103 0 0 1 0 0 1
Intellectual disability, X-linked 107 0 0 1 0 0 1
Intellectual disability, X-linked 30 0 0 1 0 0 1
Intellectual disability, X-linked 90 0 1 0 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 0 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 0 0 0 1 0 1
Intellectual disability, autosomal dominant 11 0 0 1 0 0 1
Intellectual disability, autosomal dominant 14 1 0 0 0 0 1
Intellectual disability, autosomal dominant 24 1 0 0 0 0 1
Intellectual disability, autosomal dominant 30 1 0 0 0 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 0 1
Intellectual disability, autosomal dominant 41 0 1 0 0 0 1
Intellectual disability, autosomal dominant 48 0 0 1 0 0 1
Intellectual disability, autosomal dominant 56 0 0 1 0 0 1
Intellectual disability, autosomal dominant 57 1 0 0 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 0 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 0 0 1
Irido-corneo-trabecular dysgenesis 0 0 1 0 0 1
KINSSHIP syndrome 0 0 1 0 0 1
Kabuki syndrome 2 0 1 0 0 0 1
Kleefstra syndrome 2 0 1 0 0 0 1
Kniest dysplasia 0 1 0 0 0 1
Kufor-Rakeb syndrome 0 1 0 0 0 1
Lambdoidal craniosynostosis 0 1 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 1
Lethal congenital contracture syndrome 11 0 1 0 0 0 1
Leukemia, acute lymphoblastic, susceptibility to, 3 0 0 1 0 0 1
Liang-Wang syndrome 0 0 1 0 0 1
Linear skin defects with multiple congenital anomalies 1 0 0 1 0 0 1
Long QT syndrome 2 0 1 0 0 0 1
MHC class II deficiency 0 1 0 0 0 1
Macrocephaly-autism syndrome 0 0 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 0 0 1
Maturity-onset diabetes of the young type 8 0 1 0 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 0 1 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 8 0 1 0 0 0 1
Melnick-Needles syndrome 0 0 1 0 0 1
Menkes kinky-hair syndrome 0 0 1 0 0 1
Migraine, familial hemiplegic, 1 0 0 1 0 0 1
Migraine; Dystonic disorder; Seizure; Hypertonia; Ventriculomegaly; Developmental regression; Attention deficit hyperactivity disorder 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome, myopathic form 1 0 0 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 0 1 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 1 0 0 0 0 1
Multicentric osteolysis nodulosis arthropathy spectrum 0 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 1 0 0 0 0 1
Myasthenic syndrome, congenital, 22 0 0 1 0 0 1
Myopia 6 0 1 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 0 0 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 0 1 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 1 0 0 0 0 1
Neurodevelopmental disorder with involuntary movements 0 0 1 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 0 0 1
Neurofibromatosis-Noonan syndrome 0 1 0 0 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 0 0 1 0 0 1
Neuroocular syndrome 0 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1A 0 1 0 0 0 1
Noonan syndrome 10 1 0 0 0 0 1
Noonan syndrome 12 1 0 0 0 0 1
Noonan syndrome 2 0 1 0 0 0 1
Noonan syndrome 3 1 0 0 0 0 1
Noonan syndrome 5 0 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 0 1
Obesity 1 0 0 0 0 1
Oculopharyngeal muscular dystrophy 0 1 0 0 0 1
Osteocraniostenosis 0 1 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 1 0 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 0 1 0 0 1
PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome type 4C 0 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 0 1
PTBP1-related neurodevelopmental disorder with skeletal dysplasia 1 0 0 0 0 1
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 1 0 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1 0 0 0 0 1
Parietal foramina 2 0 1 0 0 0 1
Parkinson disease, late-onset; Spinocerebellar ataxia type 8 0 1 0 0 0 1
Periventricular nodular heterotopia 8 0 1 0 0 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 1 0 0 0 0 1
Pfeiffer syndrome 1 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 1 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 5 1 0 0 0 0 1
Pierpont syndrome 1 0 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 0 1
Polydactyly, postaxial, type A1 0 0 1 0 0 1
Polydactyly, postaxial, type A8 0 1 0 0 0 1
Prostate cancer, hereditary, 9 1 0 0 0 0 1
Pseudohypoparathyroidism type I A 0 0 1 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 0 1
Renal cysts and diabetes syndrome 1 0 0 0 0 1
Ritscher-Schinzel syndrome 4 0 0 1 0 0 1
STING-associated vasculopathy with onset in infancy 0 1 0 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 1
Seborrhea-like dermatitis with psoriasiform elements 0 0 1 0 0 1
Seizure; Abnormal facial shape; Delayed speech and language development; Gray matter heterotopia; Moderate intellectual disability; Periventricular heterotopia; Cerebral white matter hypoplasia; Patent ductus arteriosus 0 0 1 0 0 1
Seizure; Dyslexia; Delayed speech and language development; Compulsive behaviors; Anxiety; Attention deficit hyperactivity disorder 0 0 1 0 0 1
Seizure; Dyslexia; Hip dislocation; Delayed speech and language development; Attention deficit hyperactivity disorder; Cognitive regression 0 0 1 0 0 1
Seizure; Focal impaired awareness seizure; Attention deficit hyperactivity disorder 0 0 1 0 0 1
Seizure; Speech apraxia; Apraxia; Chiari malformation; Moderate intellectual disability 0 0 1 0 0 1
Seizures, benign familial neonatal, 2 1 0 0 0 0 1
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0 0 1 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0 1 0 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 1
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 1 0 0 0 0 1
Spinocerebellar ataxia 47 1 0 0 0 0 1
Spinocerebellar ataxia type 29 0 0 1 0 0 1
Spinocerebellar ataxia type 8 0 1 0 0 0 1
Spondylo-ocular syndrome 0 1 0 0 0 1
Symphalangism-brachydactyly syndrome 1 0 0 0 0 1
Syndromic X-linked intellectual disability 34 1 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 0 0 1
Syndromic X-linked intellectual disability Shashi type 0 0 1 0 0 1
Syndromic X-linked intellectual disability Snyder type 0 0 1 0 0 1
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 1 0 0 0 1
Tetralogy of Fallot 1 0 0 0 0 1
Thanatophoric dysplasia, type 2 1 0 0 0 0 1
Thrombocythemia 3 0 0 1 0 0 1
Tuberous sclerosis 1 1 0 0 0 0 1
Unverricht-Lundborg syndrome 1 0 0 0 0 1
Van der Woude syndrome 2 0 0 1 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 3 0 1 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 0 0 0 1
Waardenburg syndrome type 4A 0 0 1 0 0 1
Wieacker-Wolff syndrome 1 0 0 0 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1
X-linked Opitz G/BBB syndrome 0 0 1 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 0 1
X-linked intellectual disability Cabezas type 0 0 1 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 1
X-linked intellectual disability, van Esch type 0 0 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 1 0 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 1

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