- AAAS 1
- AARS 1
- AARS2 1
- AASS 1
- ABAT 1
- ABCA1 1
- ABCA12 1
- ABCA3 1
- ABCA4 1
- ABCB11 1
- ABCB4 1
- ABCB7 1
- ABCC2 1
- ABCC6 1
- ABCC8 1
- ABCC9 1
- ABCD1 1
- ABCD4 1
- ABCG5 1
- ABCG8 1
- ABHD12 1
- ABHD5 1
- ABL1 1
- ACAD8 1
- ACAD9 1
- ACADM 1
- ACADS 1
- ACADSB 1
- ACADVL 1
- ACAN 1
- ACAT1 1
- ACE 1
- ACO2 2
- ACOX1 1
- ACP5 1
- ACSF3 1
- ACSL4 1
- ACTA1 1
- ACTA2 1
- ACTB 1
- ACTC1 1
- ACTG1 1
- ACTG2 1
- ACTL6B 1
- ACTN1 1
- ACTN4 1
- ACVR1 1
- ACVR2B 1
- ACVRL1 1
- ACY1 1
- ADA 1
- ADA2 1
- ADAMTS10 1
- ADAMTS13 1
- ADAMTS17 1
- ADAMTSL2 1
- ADAR 1
- ADAT3 1
- ADCY5 1
- ADD3 1
- ADGRG1 1
- ADGRG6 1
- ADGRV1 1
- ADK 1
- ADNP 1
- ADPRHL2 1
- ADSL 1
- AFF2 1
- AFF4 1
- AFG3L2 1
- AGA 1
- AGK 1
- AGL 1
- AGPS 1
- AGRN 1
- AGT 1
- AGTR1 1
- AGXT 1
- AHDC1 1
- AHI1 1
- AICDA 1
- AIFM1 1
- AIMP1 1
- AIPL1 1
- AIRE 1
- AK1 1
- AK2 1
- AKR1D1 1
- AKT1 1
- AKT3 1
- ALAD 1
- ALAS2 1
- ALB 2
- ALDH18A1 1
- ALDH1A3 1
- ALDH3A2 1
- ALDH4A1 1
- ALDH5A1 1
- ALDH6A1 1
- ALDH7A1 1
- ALDOA 1
- ALDOB 1
- ALG1 1
- ALG11 1
- ALG12 1
- ALG13 1
- ALG3 1
- ALG6 1
- ALG8 1
- ALG9 1
- ALKBH8 1
- ALMS1 1
- ALOX12B 1
- ALOXE3 1
- ALPL 1
- ALS2 1
- ALX1 1
- ALX3 1
- ALX4 1
- AMACR 1
- AMELX 1
- AMER1 1
- AMMECR1 1
- AMN 1
- AMPD2 1
- AMT 1
- ANK1 1
- ANKH 1
- ANKRD11 1
- ANKRD26 1
- ANKS6 1
- ANO10 1
- ANO3 1
- ANO5 1
- ANO6 1
- ANOS1 1
- ANTXR1 1
- ANTXR2 1
- AP1S1 1
- AP1S2 1
- AP2M1 1
- AP3B1 1
- AP3B2 1
- AP3D1 2
- AP4B1 1
- AP4E1 1
- AP4M1 1
- AP4S1 1
- AP5Z1 1
- APC 1
- APOA1 1
- APOA5 1
- APOB 1
- APOC2 1
- APOE 1
- APOPT1 1
- APRT 1
- APTX 1
- AR 1
- ARCN1 1
- ARFGEF2 1
- ARG1 1
- ARHGAP31 1
- ARHGDIA 1
- ARHGEF9 1
- ARID1A 1
- ARID1B 1
- ARID2 1
- ARL13B 1
- ARL6 1
- ARMC4 2
- ARMC9 1
- ARPC1B 1
- ARSA 1
- ARSB 1
- ARSE 1
- ARV1 1
- ARX 1
- ASAH1 1
- ASCC1 1
- ASH1L 1
- ASL 1
- ASNS 1
- ASPA 1
- ASPM 1
- ASS1 1
- ASXL1 1
- ASXL2 1
- ASXL3 1
- ATAD1 1
- ATAD3A 1
- ATCAY 1
- ATIC 1
- ATL1 1
- ATM 1
- ATN1 1
- ATP13A2 1
- ATP1A1 1
- ATP1A2 1
- ATP1A3 1
- ATP2A1 1
- ATP5D 1
- ATP6AP1 1
- ATP6AP2 1
- ATP6V0A2 1
- ATP6V1A 1
- ATP6V1B1 1
- ATP6V1B2 1
- ATP7A 1
- ATP7B 1
- ATP8B1 1
- ATR 1
- ATRX 1
- ATXN1 2
- ATXN10 2
- ATXN2 2
- ATXN3 2
- ATXN7 2
- AUH 1
- AUTS2 1
- AVPR2 1
- B2M 1
- B3GALNT2 1
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALNT1 1
- B4GALT1 1
- B4GALT7 1
- B4GAT1 1
- B9D2 1
- BAAT 1
- BACH2 1
- BAG3 1
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCAP31 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BCL11A 1
- BCL11B 1
- BCOR 1
- BCS1L 1
- BEAN1 1
- BFSP2 1
- BGN 1
- BHLHA9 1
- BICD2 1
- BIN1 1
- BLM 1
- BLOC1S3 1
- BLOC1S6 1
- BMP1 1
- BMP2 1
- BMP4 1
- BMPER 1
- BMPR1A 1
- BMPR1B 1
- BNC2 1
- BOLA3 1
- BPTF 1
- BRAF 1
- BRAT1 1
- BRCA1 1
- BRCA2 1
- BRD4 1
- BRF1 1
- BRIP1 1
- BRPF1 1
- BRSK2 1
- BRWD3 1
- BSCL2 1
- BSND 1
- BTD 1
- BTK 1
- BUB1B 1
- C11orf70 1
- C12orf4 2
- C12orf57 1
- C12orf65 2
- C15orf41 2
- C19orf12 1
- C19orf70 1
- C1QA 1
- C1QB 1
- C1QBP 1
- C1QC 1
- C1R 1
- C1S 1
- C2 1
- C21orf2 1
- C2CD3 1
- C2orf71 1
- C3 1
- C4A 1
- C4B 1
- C4orf26 1
- C5 1
- C5orf42 1
- C6 1
- C7 1
- C8A 1
- C8B 1
- C8G 1
- C8orf37 1
- C9 1
- C9orf72 2
- CA2 1
- CA5A 1
- CA8 1
- CACNA1A 1
- CACNA1B 1
- CACNA1C 1
- CACNA1D 1
- CACNA1E 1
- CACNA1F 1
- CACNA1G 1
- CACNA1S 1
- CACNB4 1
- CAD 1
- CAMK2A 1
- CAMK2B 1
- CAMTA1 1
- CANT1 1
- CAPN1 1
- CAPN3 1
- CARD11 1
- CARD14 1
- CARD9 1
- CARMIL2 1
- CARS 2
- CARS2 1
- CASK 1
- CASP10 1
- CASQ1 1
- CASQ2 1
- CASR 1
- CAT 1
- CAV3 1
- CAVIN1 1
- CBL 1
- CBS 1
- CC2D1A 1
- CC2D2A 1
- CCBE1 1
- CCDC103 1
- CCDC114 2
- CCDC115 2
- CCDC22 1
- CCDC39 1
- CCDC40 1
- CCDC47 1
- CCDC65 1
- CCDC8 1
- CCDC88C 1
- CCND2 1
- CCNO 1
- CCT5 1
- CD19 1
- CD247 1
- CD27 1
- CD3D 1
- CD3E 1
- CD3G 1
- CD40 1
- CD40LG 1
- CD55 1
- CD59 1
- CD70 1
- CD79A 1
- CD79B 1
- CD81 1
- CD8A 1
- CDAN1 1
- CDC42 1
- CDC45 1
- CDCA7 1
- CDH1 1
- CDH11 1
- CDH15 1
- CDH23 1
- CDH3 1
- CDK10 1
- CDK13 1
- CDK5RAP2 1
- CDK8 1
- CDKL5 1
- CDKN1C 1
- CDON 1
- CDSN 1
- CDT1 1
- CDX1 1
- CEBPE 1
- CENPF 1
- CENPJ 1
- CEP104 1
- CEP120 1
- CEP135 1
- CEP152 1
- CEP164 1
- CEP290 1
- CEP41 1
- CEP57 1
- CEP63 1
- CEP83 1
- CFC1 1
- CFD 1
- CFH 1
- CFHR5 1
- CFI 1
- CFL2 1
- CFP 1
- CFTR 1
- CHAMP1 1
- CHAT 1
- CHCHD10 1
- CHD2 1
- CHD3 1
- CHD4 1
- CHD7 1
- CHD8 1
- CHKB 1
- CHM 1
- CHMP1A 1
- CHMP2B 1
- CHRDL1 1
- CHRNA1 1
- CHRNA2 1
- CHRNA4 1
- CHRNB1 1
- CHRNB2 1
- CHRND 1
- CHRNE 1
- CHRNG 1
- CHST14 1
- CHST3 1
- CHST6 1
- CHSY1 1
- CHUK 1
- CIB2 1
- CIC 1
- CIITA 1
- CISD2 1
- CIT 1
- CKAP2L 1
- CLCN2 1
- CLCN4 1
- CLCN5 1
- CLCN7 1
- CLDN1 1
- CLDN14 1
- CLDN16 1
- CLDN19 1
- CLN3 1
- CLN5 1
- CLN6 1
- CLN8 1
- CLP1 2
- CLPB 1
- CLPP 1
- CLRN1 1
- CLTC 1
- CNBP 1
- CNGB3 1
- CNKSR2 1
- CNNM2 1
- CNOT1 1
- CNOT3 1
- CNPY3 1
- CNTNAP1 1
- CNTNAP2 3
- COA6 1
- COA7 1
- COASY 1
- COCH 1
- COG1 1
- COG4 1
- COG5 1
- COG6 1
- COG7 1
- COG8 1
- COL10A1 1
- COL11A1 1
- COL11A2 1
- COL12A1 1
- COL13A1 1
- COL17A1 1
- COL18A1 1
- COL1A1 1
- COL1A2 1
- COL2A1 1
- COL3A1 1
- COL4A1 1
- COL4A2 1
- COL4A3 1
- COL4A3BP 1
- COL4A4 1
- COL4A5 1
- COL5A1 1
- COL5A2 1
- COL6A1 1
- COL6A2 1
- COL6A3 1
- COL7A1 1
- COL9A1 1
- COL9A2 1
- COL9A3 1
- COLEC10 1
- COLEC11 1
- COLQ 1
- COMP 1
- COPA 1
- COQ2 1
- COQ4 1
- COQ6 1
- COQ8A 1
- COQ8B 1
- COQ9 1
- CORO1A 1
- COX10 1
- COX15 1
- COX20 1
- COX6A1 1
- COX6B1 1
- COX7B 1
- CP 1
- CPOX 2
- CPS1 1
- CPT1A 1
- CPT2 1
- CR2 1
- CRADD 1
- CRB1 1
- CRB2 1
- CREBBP 1
- CRIPT 1
- CRLF1 1
- CRTAP 1
- CRX 1
- CRYAA 1
- CRYAB 1
- CRYBA1 1
- CRYBA4 1
- CRYBB1 1
- CRYBB2 1
- CRYBB3 1
- CRYGC 1
- CRYGD 1
- CSF1R 2
- CSF2RA 1
- CSF2RB 1
- CSF3R 1
- CSNK2A1 1
- CSNK2B 2
- CSPP1 1
- CSTB 1
- CTBP1 1
- CTC1 1
- CTCF 1
- CTDP1 1
- CTH 1
- CTLA4 1
- CTNNA2 1
- CTNNB1 1
- CTNND1 1
- CTNS 1
- CTPS1 1
- CTSA 1
- CTSC 1
- CTSD 1
- CTSF 1
- CTSK 1
- CUBN 1
- CUL4B 1
- CUL7 1
- CUX1 1
- CUX2 1
- CWC27 1
- CWF19L1 1
- CXCR4 1
- CYB5R3 1
- CYBA 1
- CYBB 1
- CYC1 1
- CYCS 1
- CYFIP2 1
- CYP11A1 1
- CYP11B1 1
- CYP17A1 1
- CYP1B1 1
- CYP21A2 1
- CYP27A1 1
- CYP27B1 1
- CYP2U1 1
- CYP4F22 1
- CYP7B1 1
- D2HGDH 1
- DAB1 1
- DAG1 1
- DARS 1
- DARS2 1
- DBH 1
- DBT 1
- DCAF17 1
- DCC 2
- DCDC2 1
- DCHS1 1
- DCLRE1B 1
- DCLRE1C 1
- DCPS 1
- DCTN1 1
- DCX 1
- DDB2 1
- DDC 1
- DDHD1 1
- DDHD2 1
- DDR2 1
- DDX11 1
- DDX3X 1
- DDX59 1
- DEAF1 1
- DEGS1 1
- DENND5A 1
- DEPDC5 2
- DES 1
- DFNA5 1
- DFNB59 1
- DGKE 1
- DGUOK 1
- DHCR24 1
- DHCR7 1
- DHDDS 1
- DHFR 1
- DHODH 1
- DHPS 1
- DHTKD1 1
- DHX30 1
- DIAPH1 1
- DIS3L2 1
- DISP1 1
- DKC1 1
- DLAT 1
- DLD 1
- DLG3 1
- DLG4 1
- DLL3 1
- DLL4 1
- DLX3 1
- DLX5 1
- DMD 1
- DMP1 1
- DMPK 3
- DNA2 1
- DNAAF1 1
- DNAAF3 1
- DNAAF4 1
- DNAH11 1
- DNAH5 1
- DNAH9 1
- DNAI1 1
- DNAJB11 1
- DNAJB6 1
- DNAJC12 1
- DNAJC19 1
- DNAJC21 1
- DNAJC5 1
- DNASE2 1
- DNM1 1
- DNM1L 1
- DNM2 1
- DNMT1 1
- DNMT3A 1
- DNMT3B 1
- DOCK2 1
- DOCK3 1
- DOCK6 1
- DOCK7 1
- DOCK8 1
- DOK7 1
- DOLK 1
- DONSON 1
- DPAGT1 1
- DPF2 1
- DPH1 1
- DPM1 1
- DPM2 1
- DPM3 1
- DPYD 1
- DPYS 1
- DSP 1
- DSPP 1
- DSTYK 1
- DTNBP1 1
- DUOX2 1
- DVL1 1
- DVL3 1
- DYM 1
- DYNC1H1 1
- DYNC2H1 1
- DYNC2LI1 1
- DYRK1A 1
- DYSF 1
- DZIP1L 1
- EARS2 1
- EBF3 1
- EBP 1
- ECEL1 1
- ECHS1 1
- EDA 1
- EDAR 1
- EDARADD 1
- EDNRA 1
- EDNRB 1
- EED 1
- EEF1A2 1
- EFHC1 1
- EFNB1 1
- EFTUD2 1
- EGR2 1
- EHMT1 1
- EIF2AK3 1
- EIF2B1 1
- EIF2B2 1
- EIF2B3 1
- EIF2B4 1
- EIF2B5 1
- EIF2S3 1
- EIF3F 1
- EIF4A3 1
- ELAC2 1
- ELANE 1
- ELN 1
- ELOVL4 1
- ELOVL5 1
- ELP1 1
- ELP2 1
- EMC1 2
- EMD 1
- EML1 1
- EMX2 1
- ENG 1
- ENO3 1
- ENPP1 1
- ENTPD1 1
- EOGT 1
- EP300 1
- EPB41 1
- EPB42 1
- EPG5 1
- EPHB4 1
- EPM2A 1
- EPRS 1
- ERCC1 1
- ERCC2 1
- ERCC3 1
- ERCC4 1
- ERCC5 1
- ERCC6 1
- ERCC6L2 1
- ERCC8 1
- ERF 1
- ERLIN1 1
- ERLIN2 1
- ESCO2 1
- ESRRB 1
- ETFA 1
- ETFB 2
- ETFDH 1
- ETHE1 1
- ETV6 1
- EVC 1
- EVC2 1
- EXOSC3 1
- EXT1 1
- EXT2 1
- EXTL3 1
- EYA1 1
- EYA4 1
- EZH2 1
- F10 1
- F11 1
- F12 1
- F13A1 1
- F13B 1
- F2 1
- F5 1
- F7 1
- F8 1
- F9 1
- FA2H 1
- FADD 1
- FAH 1
- FAM111A 2
- FAM111B 1
- FAM126A 2
- FAM161A 1
- FAM20A 1
- FAM20C 1
- FAM58A 1
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FANCL 1
- FAR1 1
- FARS2 1
- FAS 1
- FASLG 1
- FAT4 1
- FBLN5 1
- FBN1 1
- FBN2 1
- FBP1 1
- FBXL3 1
- FBXL4 1
- FBXO11 1
- FBXO7 1
- FCGR3A 1
- FCGR3B 1
- FCN3 1
- FDX2 1
- FDXR 1
- FECH 2
- FERMT3 1
- FGA 1
- FGB 1
- FGD1 1
- FGD4 1
- FGF10 1
- FGF12 1
- FGF14 1
- FGF16 1
- FGF23 1
- FGF3 1
- FGF8 1
- FGFR1 1
- FGFR2 1
- FGFR3 1
- FGG 1
- FH 1
- FHL1 1
- FIG4 1
- FKBP10 1
- FKBP14 1
- FKRP 1
- FKTN 1
- FLAD1 1
- FLCN 1
- FLI1 1
- FLNA 1
- FLNB 1
- FLNC 1
- FLT4 1
- FLVCR1 1
- FLVCR2 1
- FMN2 1
- FMO3 1
- FMR1 1
- FN1 1
- FOLR1 1
- FOXC1 1
- FOXC2 1
- FOXE1 1
- FOXE3 1
- FOXF1 1
- FOXG1 1
- FOXN1 1
- FOXP1 1
- FOXP2 1
- FOXP3 1
- FOXRED1 1
- FRAS1 1
- FREM1 1
- FREM2 1
- FRMD7 1
- FRMPD4 1
- FRRS1L 1
- FTCD 1
- FTL 1
- FTSJ1 1
- FUCA1 1
- FUT8 1
- FXN 1
- FYB1 1
- FYCO1 1
- FZD2 1
- FZD6 1
- G6PC 2
- G6PC3 1
- G6PD 1
- GAA 1
- GABBR2 1
- GABRA1 1
- GABRA2 1
- GABRB2 1
- GABRB3 1
- GABRG2 1
- GALC 1
- GALE 1
- GALK1 1
- GALNS 1
- GALNT3 1
- GALT 1
- GAMT 1
- GAN 1
- GANAB 1
- GARS 1
- GAS8 1
- GATA1 1
- GATA2 1
- GATA3 1
- GATA4 1
- GATA6 1
- GATAD2B 1
- GATM 1
- GBA 2
- GBA2 1
- GBE1 1
- GCDH 1
- GCH1 1
- GCK 1
- GCLC 1
- GDAP1 1
- GDF5 1
- GDF6 1
- GDI1 1
- GFAP 1
- GFER 1
- GFI1B 1
- GFM1 1
- GFM2 1
- GFPT1 1
- GGCX 1
- GH1 1
- GHR 1
- GHRHR 1
- GIF 1
- GINS1 1
- GIPC3 1
- GJA1 1
- GJA3 1
- GJA8 1
- GJB1 1
- GJB2 1
- GJB3 1
- GJC2 1
- GK 1
- GLA 1
- GLB1 1
- GLDC 1
- GLDN 1
- GLE1 1
- GLI1 1
- GLI2 1
- GLI3 1
- GLIS3 1
- GLMN 1
- GLRA1 1
- GLRB 1
- GLRX5 1
- GLUD1 1
- GLUL 1
- GLYCTK 1
- GM2A 1
- GMNN 1
- GMPPA 1
- GMPPB 1
- GNAI1 1
- GNAI3 1
- GNAL 1
- GNAO1 1
- GNAS 1
- GNB1 1
- GNB5 1
- GNE 1
- GNMT 1
- GNPAT 1
- GNPTAB 1
- GNPTG 1
- GNS 1
- GORAB 1
- GOSR2 1
- GP1BA 1
- GP1BB 1
- GP6 1
- GP9 1
- GPAA1 1
- GPC3 1
- GPC6 1
- GPD1 1
- GPHN 1
- GPI 1
- GPR143 1
- GPR179 1
- GPSM2 1
- GPT2 1
- GRHL3 1
- GRHPR 1
- GRIA2 2
- GRIA3 1
- GRIA4 1
- GRID2 1
- GRIK2 1
- GRIN1 1
- GRIN2A 1
- GRIN2B 1
- GRIN2D 1
- GRIP1 1
- GRM1 1
- GRM6 1
- GRN 1
- GSC 1
- GSS 1
- GTF2H5 1
- GTPBP2 1
- GTPBP3 1
- GUCY2C 1
- GUSB 1
- GYG1 1
- GYS1 1
- GYS2 1
- GZF1 1
- H19 1
- HAAO 1
- HACE1 1
- HADH 1
- HADHA 1
- HADHB 1
- HAMP 1
- HAX1 1
- HBA1 1
- HBA2 1
- HBB 1
- HCCS 1
- HCFC1 1
- HCN1 1
- HCN2 1
- HDAC4 1
- HDAC8 1
- HECW2 1
- HELLS 1
- HEPACAM 1
- HERC1 1
- HES7 1
- HESX1 1
- HEXA 1
- HEXB 1
- HFE 1
- HFE2 1
- HGD 1
- HGSNAT 1
- HIBCH 1
- HINT1 1
- HIST1H1E 1
- HIVEP2 1
- HK1 1
- HLCS 1
- HMBS 2
- HMGCL 1
- HMGCS2 1
- HNF1B 1
- HNF4A 1
- HNRNPH1 1
- HNRNPH2 1
- HNRNPK 1
- HNRNPU 1
- HOGA1 1
- HOXA1 1
- HOXA11 1
- HOXA13 1
- HOXC13 1
- HOXD13 1
- HPCA 1
- HPD 1
- HPGD 1
- HPRT1 1
- HPS1 1
- HPS3 1
- HPS4 1
- HPS5 1
- HPS6 1
- HPSE2 1
- HR 1
- HRAS 1
- HSD17B10 1
- HSD17B3 1
- HSD17B4 1
- HSD3B7 1
- HSF4 1
- HSPB1 1
- HSPB8 1
- HSPD1 1
- HSPG2 1
- HTRA1 1
- HTRA2 1
- HUWE1 1
- HYDIN 1
- HYLS1 1
- IARS 1
- IARS2 1
- IBA57 1
- ICK 1
- ICOS 1
- IDH2 1
- IDS 1
- IDUA 1
- IER3IP1 1
- IFIH1 1
- IFITM5 1
- IFNGR1 1
- IFNGR2 1
- IFT122 2
- IFT140 1
- IFT172 1
- IFT43 1
- IFT52 1
- IFT80 1
- IFT81 1
- IGF1 1
- IGF1R 1
- IGF2 1
- IGFALS 1
- IGHM 1
- IGHMBP2 1
- IGKC 1
- IGLL1 1
- IGSF1 1
- IHH 1
- IKBKB 1
- IKBKG 1
- IKZF1 1
- IL10RA 1
- IL10RB 1
- IL11RA 1
- IL12B 1
- IL12RB1 1
- IL17RA 1
- IL17RC 1
- IL1RAPL1 1
- IL1RN 1
- IL21R 1
- IL2RA 1
- IL2RG 1
- IL36RN 1
- IL7R 1
- ILDR1 1
- IMPAD1 1
- INF2 1
- INO80 1
- INPP5E 1
- INPP5K 1
- INPPL1 1
- INSR 1
- INTS1 1
- INTU 1
- INVS 1
- IQCB1 1
- IQSEC2 1
- IRAK4 1
- IRF2BPL 1
- IRF6 1
- IRF8 1
- IRX5 1
- ISCA1 1
- ISCA2 1
- ISCU 1
- ISG15 1
- ISPD 1
- ITCH 1
- ITGA2B 1
- ITGA3 1
- ITGA6 1
- ITGA7 1
- ITGA8 1
- ITGB2 1
- ITGB3 1
- ITGB4 1
- ITK 1
- ITPA 1
- ITPR1 1
- ITSN2 1
- IVD 1
- JAG1 1
- JAGN1 1
- JAK3 1
- JAM3 1
- JPH2 1
- JPH3 1
- JUP 1
- KANSL1 1
- KARS 1
- KAT6A 1
- KAT6B 1
- KATNB1 1
- KBTBD13 1
- KCNA1 1
- KCNA2 1
- KCNB1 1
- KCNC1 1
- KCNC3 1
- KCND3 1
- KCNE1 1
- KCNH1 1
- KCNJ1 1
- KCNJ10 1
- KCNJ11 1
- KCNJ2 2
- KCNJ6 1
- KCNK4 1
- KCNK9 1
- KCNMA1 1
- KCNQ1 1
- KCNQ2 1
- KCNQ3 1
- KCNQ4 1
- KCNQ5 1
- KCNT1 1
- KCTD1 1
- KCTD3 1
- KCTD7 1
- KDM1A 1
- KDM5B 1
- KDM5C 1
- KDM6A 1
- KDSR 1
- KIAA0586 1
- KIAA1109 2
- KIDINS220 1
- KIF11 1
- KIF14 1
- KIF1A 1
- KIF1BP 1
- KIF1C 1
- KIF21A 1
- KIF22 1
- KIF23 1
- KIF2A 1
- KIF5A 1
- KIF5C 1
- KIF7 1
- KIT 1
- KLF1 3
- KLHL40 1
- KLHL41 1
- KLHL7 1
- KLKB1 1
- KMT2A 1
- KMT2B 1
- KMT2C 1
- KMT2D 1
- KMT2E 1
- KMT5B 1
- KNG1 1
- KNL1 1
- KPTN 1
- KRAS 1
- KRIT1 1
- KRT14 1
- KRT16 1
- KRT17 1
- KRT5 1
- KRT6A 1
- KYNU 1
- L1CAM 1
- L2HGDH 1
- LAGE3 1
- LAMA1 1
- LAMA2 1
- LAMA3 1
- LAMB1 1
- LAMB2 1
- LAMB3 1
- LAMC2 1
- LAMC3 1
- LAMP2 1
- LAMTOR2 1
- LARGE1 1
- LARP7 1
- LARS2 1
- LAT 1
- LBR 1
- LCAT 1
- LCT 1
- LDB3 1
- LDHA 1
- LDLR 1
- LDLRAP1 1
- LEMD3 1
- LEPR 1
- LFNG 1
- LGI1 1
- LGI4 1
- LHFPL5 1
- LHX3 1
- LHX4 1
- LIAS 1
- LIFR 1
- LIG4 1
- LINS1 1
- LIPA 1
- LIPT1 1
- LIPT2 1
- LITAF 1
- LMAN1 1
- LMBR1 1
- LMBRD1 1
- LMNA 1
- LMNB1 1
- LMOD3 1
- LMX1B 1
- LNPK 1
- LONP1 1
- LOXHD1 1
- LPIN1 1
- LPIN2 1
- LPL 1
- LRBA 1
- LRIG2 1
- LRP2 1
- LRP4 1
- LRP5 1
- LRPPRC 1
- LRRC6 2
- LRRK2 1
- LRSAM1 1
- LRTOMT 1
- LTBP2 1
- LTBP3 1
- LTBP4 1
- LYRM7 1
- LYST 1
- LZTFL1 1
- LZTR1 1
- MAB21L1 1
- MAB21L2 1
- MACF1 1
- MAF 1
- MAFB 1
- MAGEL2 1
- MAGI2 1
- MAGT1 1
- MALT1 1
- MAN1B1 1
- MAN2B1 1
- MANBA 1
- MAOA 1
- MAP2K1 1
- MAP2K2 1
- MAP3K1 1
- MAP3K20 1
- MAP3K7 1
- MAPK8IP3 1
- MAPKBP1 1
- MAPRE2 1
- MAPT 1
- MARS2 1
- MARVELD2 1
- MASP1 1
- MASP2 1
- MAST1 1
- MAT1A 1
- MATN3 1
- MATR3 1
- MBD5 1
- MBOAT7 1
- MBTPS2 1
- MC2R 1
- MCCC1 1
- MCCC2 1
- MCEE 1
- MCFD2 1
- MCM3AP 2
- MCM4 1
- MCOLN1 1
- MCPH1 1
- MDH2 1
- MECOM 1
- MECP2 1
- MECR 1
- MED12 1
- MED13L 1
- MED17 1
- MED23 1
- MEF2C 1
- MEFV 1
- MEGF10 1
- MEGF8 1
- MEIS2 1
- MEOX1 1
- MESP2 1
- METTL23 1
- MFF 1
- MFN2 1
- MFRP 1
- MFSD2A 1
- MFSD8 1
- MGAT2 1
- MGME1 1
- MGP 1
- MICU1 1
- MID1 1
- MIPEP 1
- MITF 1
- MKKS 1
- MKS1 1
- MLC1 1
- MLYCD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 1
- MMP13 1
- MMP2 1
- MMP21 1
- MNX1 1
- MOCS1 1
- MOCS2 1
- MOGS 1
- MORC2 1
- MPC1 1
- MPDU1 1
- MPI 1
- MPIG6B 1
- MPL 1
- MPLKIP 1
- MPO 1
- MPV17 1
- MPZ 1
- MRE11 1
- MRPL3 1
- MRPS2 1
- MRPS22 1
- MRPS34 1
- MS4A1 1
- MSH6 1
- MSL3 1
- MSMO1 1
- MSN 1
- MSTO1 2
- MSX1 1
- MSX2 1
- MT-ATP6 1
- MT-ATP8 1
- MT-CO1 1
- MT-CO2 1
- MT-CO3 1
- MT-CYB 1
- MTFMT 1
- MTHFD1 1
- MTHFR 1
- MTM1 1
- MTMR2 1
- MT-ND1 1
- MT-ND2 1
- MT-ND3 1
- MT-ND4 1
- MT-ND4L 1
- MT-ND5 1
- MT-ND6 1
- MTO1 1
- MTOR 1
- MTR 1
- MT-RNR1 1
- MTRR 1
- MT-TA 1
- MT-TC 1
- MT-TD 1
- MT-TE 1
- MT-TF 1
- MT-TG 1
- MT-TH 1
- MT-TI 1
- MT-TK 1
- MT-TL1 1
- MT-TL2 1
- MT-TM 1
- MT-TN 1
- MTTP 1
- MT-TP 1
- MT-TQ 1
- MT-TR 1
- MT-TS1 1
- MT-TS2 1
- MT-TV 1
- MT-TW 1
- MT-TY 1
- MUC1 1
- MUSK 1
- MUT 1
- MVK 1
- MYBPC1 1
- MYCN 1
- MYD88 1
- MYH10 1
- MYH14 1
- MYH2 1
- MYH3 1
- MYH6 1
- MYH7 1
- MYH8 1
- MYH9 1
- MYL1 1
- MYMK 1
- MYO15A 1
- MYO18B 1
- MYO1E 1
- MYO3A 1
- MYO5A 1
- MYO5B 1
- MYO6 1
- MYO7A 1
- MYOT 1
- MYRF 1
- MYSM1 1
- MYT1 1
- MYT1L 1
- NAA10 1
- NAA15 1
- NACC1 1
- NAGA 1
- NAGLU 1
- NAGS 1
- NALCN 1
- NANS 1
- NARS2 1
- NAXE 1
- NBAS 1
- NBEA 1
- NBEAL2 1
- NBN 1
- NCF1 1
- NCF2 1
- NDE1 1
- NDP 1
- NDRG1 1
- NDST1 1
- NDUFA1 1
- NDUFA10 1
- NDUFA11 1
- NDUFA4 1
- NDUFA6 1
- NDUFA9 1
- NDUFAF1 1
- NDUFAF2 1
- NDUFAF3 1
- NDUFAF4 1
- NDUFAF5 1
- NDUFAF6 1
- NDUFAF8 1
- NDUFB11 1
- NDUFB3 1
- NDUFB8 1
- NDUFS1 1
- NDUFS2 1
- NDUFS3 1
- NDUFS4 1
- NDUFS6 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NDUFV2 1
- NEB 1
- NECTIN1 1
- NECTIN4 1
- NEDD4L 1
- NEFH 1
- NEFL 1
- NEK1 1
- NEK8 1
- NEU1 1
- NEXMIF 1
- NF1 1
- NF2 1
- NFASC 1
- NFE2L2 1
- NFIA 1
- NFIX 1
- NFKB1 1
- NFKB2 1
- NFKBIA 1
- NFU1 1
- NGLY1 2
- NHEJ1 1
- NHLRC1 1
- NHP2 1
- NHS 1
- NIPA1 1
- NIPAL4 1
- NIPBL 1
- NKX2-1 1
- NKX2-5 1
- NKX3-2 1
- NKX6-2 1
- NLGN3 1
- NLRC4 1
- NLRP12 1
- NLRP3 1
- NMNAT1 1
- NOD2 1
- NODAL 1
- NOG 1
- NONO 1
- NOP10 1
- NOP56 1
- NOTCH1 1
- NOTCH2 1
- NOTCH3 1
- NPC1 1
- NPC2 1
- NPHP1 1
- NPHP3 1
- NPHP4 1
- NPHS1 1
- NPHS2 1
- NPR2 1
- NPRL3 1
- NR0B1 1
- NR1H4 1
- NR2F1 1
- NR2F2 1
- NR5A1 1
- NRAS 1
- NRXN1 1
- NSD1 1
- NSD2 1
- NSDHL 1
- NSMCE3 1
- NSUN2 1
- NT5C2 1
- NT5C3A 1
- NTRK1 1
- NTRK2 1
- NUBPL 1
- NUP107 1
- NUP93 1
- NUS1 1
- NYX 1
- OAT 1
- OBSL1 1
- OCA2 1
- OCLN 1
- OCRL 1
- ODC1 1
- OFD1 1
- OGT 1
- OPA1 1
- OPA3 1
- OPHN1 1
- ORAI1 1
- ORC1 1
- ORC4 1
- ORC6 1
- OSGEP 1
- OSMR 1
- OSTM1 1
- OTC 1
- OTOA 1
- OTOF 1
- OTOGL 1
- OTUD6B 1
- OTULIN 1
- OTX2 1
- OXCT1 1
- P2RY12 1
- P3H1 1
- P4HTM 1
- PACS1 1
- PACS2 1
- PAFAH1B1 1
- PAH 1
- PAK3 1
- PALB2 1
- PANK2 1
- PAPPA2 1
- PAPSS2 1
- PARK7 1
- PARN 1
- PARS2 1
- PAX2 1
- PAX3 1
- PAX6 1
- PAX8 1
- PAX9 1
- PBX1 1
- PC 1
- PCBD1 1
- PCCA 1
- PCCB 1
- PCDH12 1
- PCDH15 1
- PCDH19 1
- PCGF2 1
- PCNT 1
- PCSK9 3
- PCYT1A 1
- PDCD10 1
- PDE10A 1
- PDE3A 1
- PDE4D 1
- PDE6G 1
- PDGFB 1
- PDGFRB 1
- PDHA1 1
- PDHB 1
- PDHX 1
- PDP1 1
- PDSS1 1
- PDSS2 1
- PDYN 1
- PEPD 1
- PET100 1
- PEX1 1
- PEX10 1
- PEX12 1
- PEX13 1
- PEX14 1
- PEX16 1
- PEX19 1
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 1
- PEX6 1
- PEX7 1
- PFKM 1
- PGAM2 1
- PGAP1 1
- PGAP2 1
- PGAP3 1
- PGK1 1
- PGM1 1
- PGM3 1
- PHACTR1 1
- PHEX 1
- PHF21A 1
- PHF6 1
- PHF8 1
- PHGDH 1
- PHIP 1
- PHKA1 1
- PHKA2 1
- PHKB 1
- PHKG2 1
- PHOX2B 1
- PHYH 1
- PIEZO1 1
- PIEZO2 1
- PIGA 1
- PIGB 1
- PIGC 1
- PIGG 1
- PIGH 1
- PIGL 1
- PIGN 1
- PIGO 1
- PIGQ 1
- PIGT 1
- PIGU 1
- PIGV 1
- PIGW 1
- PIK3CA 1
- PIK3CD 1
- PIK3R1 1
- PIK3R2 1
- PINK1 1
- PITRM1 1
- PITX1 1
- PITX2 1
- PITX3 1
- PKD1 1
- PKD1L1 1
- PKD2 1
- PKHD1 1
- PKLR 1
- PLA2G4A 1
- PLA2G6 1
- PLAA 1
- PLAU 1
- PLCB1 1
- PLCE1 1
- PLCG2 1
- PLEC 1
- PLG 1
- PLK4 1
- PLOD1 1
- PLOD2 1
- PLP1 1
- PLPBP 1
- PLS3 1
- PMM2 1
- PMP22 1
- PMPCA 1
- PMPCB 1
- PMS2 1
- PNKD 1
- PNKP 1
- PNP 1
- PNPLA6 1
- PNPO 1
- PNPT1 1
- POC1A 1
- POC1B 1
- POGZ 1
- POLA1 1
- POLD1 1
- POLE 1
- POLG 1
- POLG2 1
- POLH 1
- POLR1A 1
- POLR1C 1
- POLR1D 1
- POLR2A 1
- POLR3A 1
- POLR3B 1
- POMGNT1 1
- POMGNT2 1
- POMK 1
- POMT1 1
- POMT2 1
- POP1 1
- POR 1
- PORCN 1
- POU1F1 1
- POU3F3 1
- POU3F4 1
- POU4F3 1
- PPA2 1
- PPIB 1
- PPM1D 1
- PPOX 2
- PPP1CB 1
- PPP1R15B 1
- PPP1R21 1
- PPP2CA 1
- PPP2R1A 1
- PPP2R2B 1
- PPP2R5D 1
- PPP3CA 1
- PPT1 1
- PQBP1 1
- PRDM12 1
- PRF1 1
- PRG4 1
- PRICKLE1 1
- PRKAG2 1
- PRKAR1A 1
- PRKCD 1
- PRKCG 1
- PRKD1 1
- PRKDC 1
- PRKN 1
- PRKRA 1
- PRMT7 1
- PROC 1
- PRODH 2
- PROKR2 1
- PROP1 1
- PROS1 1
- PRPS1 1
- PRR12 1
- PRRT2 1
- PRSS12 1
- PRSS56 1
- PRUNE1 1
- PRX 1
- PSAP 1
- PSAT1 1
- PSEN1 1
- PSMB8 1
- PSMD12 1
- PSPH 1
- PSTPIP1 1
- PTCH1 1
- PTDSS1 1
- PTEN 1
- PTF1A 1
- PTH1R 1
- PTHLH 1
- PTPN11 1
- PTPN23 2
- PTPRC 1
- PTS 1
- PUF60 1
- PUM1 1
- PURA 1
- PUS1 1
- PUS3 1
- PUS7 1
- PYCR1 1
- PYCR2 1
- PYGL 1
- PYGM 1
- QARS 1
- QDPR 1
- QRICH1 1
- QRSL1 1
- RAB11B 1
- RAB18 1
- RAB23 1
- RAB27A 1
- RAB33B 1
- RAB39B 1
- RAB3GAP1 1
- RAB3GAP2 1
- RAB7A 1
- RAC1 1
- RAC2 1
- RAC3 1
- RAD21 1
- RAF1 1
- RAG1 1
- RAG2 1
- RAI1 1
- RALA 1
- RAPSN 1
- RARB 1
- RARS 1
- RARS2 1
- RASA1 1
- RASGRP1 1
- RASGRP2 1
- RAX 1
- RBBP8 1
- RBCK1 1
- RBM10 1
- RBM8A 1
- RBPJ 1
- RECQL4 1
- REEP1 1
- RELN 1
- REN 1
- RERE 1
- RET 1
- RETREG1 1
- RFT1 1
- RFX5 1
- RFX6 1
- RFXANK 1
- RFXAP 1
- RHAG 1
- RHOBTB2 1
- RIPK1 1
- RIPK4 1
- RIT1 1
- RLIM 1
- RMND1 1
- RMRP 2
- RNASEH1 1
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNASET2 1
- RNF125 1
- RNF168 1
- RNF170 1
- RNF216 1
- RNU4ATAC 1
- ROBO1 1
- ROBO3 1
- ROGDI 1
- ROR2 1
- RORA 1
- RORB 1
- RORC 1
- RPE65 1
- RPGR 1
- RPGRIP1 1
- RPGRIP1L 1
- RPIA 1
- RPL10 1
- RPL11 1
- RPL35A 1
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 1
- RPS26 1
- RPS6KA3 1
- RPS7 1
- RPSA 1
- RRM2B 1
- RS1 1
- RSPH1 1
- RSPH3 1
- RSPH4A 1
- RSPH9 1
- RSPO4 1
- RTEL1 1
- RTN2 1
- RTN4IP1 1
- RTTN 1
- RUNX1 1
- RUNX2 1
- RYR1 1
- RYR2 1
- SACS 1
- SALL1 1
- SALL4 1
- SAMD12 1
- SAMD9 1
- SAMD9L 1
- SAMHD1 1
- SAR1B 1
- SARS2 1
- SATB2 1
- SBDS 1
- SBF1 1
- SBF2 1
- SC5D 1
- SCAPER 1
- SCARB2 1
- SCARF2 1
- SCLT1 1
- SCN11A 1
- SCN1A 1
- SCN1B 1
- SCN2A 1
- SCN3A 1
- SCN4A 1
- SCN8A 1
- SCN9A 1
- SCNN1A 1
- SCNN1B 1
- SCO1 1
- SCO2 1
- SDCCAG8 1
- SDHA 1
- SDHAF1 1
- SDHB 1
- SDHD 1
- SEC23B 1
- SEC24D 1
- SELENON 2
- SEPSECS 1
- SEPT9 1
- SERAC1 1
- SERPINE1 1
- SERPINF1 1
- SERPINF2 1
- SERPING1 1
- SERPINH1 1
- SET 1
- SETBP1 1
- SETD1B 1
- SETD2 1
- SETD5 1
- SETX 1
- SF3B4 1
- SFRP4 1
- SFTPB 1
- SFXN4 1
- SGCA 1
- SGCB 1
- SGCD 1
- SGCE 1
- SGCG 1
- SGPL1 1
- SGSH 1
- SH2D1A 1
- SH3BP2 1
- SH3PXD2B 1
- SH3TC2 1
- SHANK2 1
- SHANK3 1
- SHH 1
- SHOC2 1
- SHOX 1
- SI 1
- SIK1 1
- SIL1 1
- SIN3A 1
- SIX1 1
- SIX3 1
- SIX5 1
- SKI 1
- SKIV2L 2
- SLC10A7 1
- SLC11A2 1
- SLC12A1 2
- SLC12A3 2
- SLC12A5 1
- SLC12A6 3
- SLC13A5 1
- SLC16A1 1
- SLC16A2 1
- SLC17A5 1
- SLC18A3 1
- SLC19A2 1
- SLC19A3 1
- SLC1A2 1
- SLC1A3 1
- SLC1A4 1
- SLC20A2 1
- SLC22A5 2
- SLC25A1 1
- SLC25A12 1
- SLC25A13 1
- SLC25A15 1
- SLC25A19 1
- SLC25A20 1
- SLC25A22 1
- SLC25A24 1
- SLC25A26 1
- SLC25A3 1
- SLC25A38 1
- SLC25A4 1
- SLC25A42 1
- SLC25A46 1
- SLC26A2 1
- SLC26A3 1
- SLC26A4 1
- SLC27A4 1
- SLC29A3 1
- SLC2A1 1
- SLC2A10 1
- SLC2A2 1
- SLC30A10 1
- SLC33A1 1
- SLC34A2 1
- SLC34A3 1
- SLC35A1 1
- SLC35A2 1
- SLC35C1 1
- SLC35D1 1
- SLC37A4 1
- SLC39A13 1
- SLC39A14 1
- SLC39A4 1
- SLC39A8 1
- SLC3A1 1
- SLC40A1 1
- SLC45A2 1
- SLC46A1 1
- SLC4A1 1
- SLC4A11 1
- SLC4A4 1
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC5A2 1
- SLC5A5 1
- SLC5A7 1
- SLC6A1 1
- SLC6A17 1
- SLC6A19 3
- SLC6A3 1
- SLC6A5 1
- SLC6A8 1
- SLC6A9 1
- SLC7A7 1
- SLC7A9 1
- SLC9A6 1
- SLCO2A1 2
- SLFN14 1
- SLX4 1
- SMAD3 1
- SMAD4 1
- SMARCA2 1
- SMARCA4 1
- SMARCAL1 1
- SMARCB1 1
- SMARCC2 1
- SMARCD1 1
- SMARCE1 1
- SMC1A 1
- SMC3 1
- SMCHD1 1
- SMN1 1
- SMOC1 1
- SMPD1 1
- SMPX 1
- SMS 1
- SNAP29 1
- SNCA 1
- SNORD118 1
- SNRPB 1
- SNX10 1
- SNX14 1
- SON 1
- SOS1 1
- SOS2 1
- SOST 1
- SOX10 1
- SOX11 1
- SOX17 1
- SOX2 1
- SOX3 1
- SOX4 1
- SOX5 1
- SOX9 1
- SP110 1
- SPAG1 1
- SPART 1
- SPAST 2
- SPATA5 2
- SPECC1L 1
- SPEG 1
- SPG11 1
- SPG21 1
- SPG7 2
- SPINK5 1
- SPPL2A 1
- SPR 1
- SPRED1 1
- SPTA1 1
- SPTAN1 1
- SPTB 1
- SPTBN2 1
- SPTBN4 1
- SPTLC1 1
- SPTLC2 1
- SRC 1
- SRCAP 1
- SRD5A2 1
- SRD5A3 1
- SRY 1
- SSR4 1
- ST3GAL3 1
- ST3GAL5 1
- STAC3 1
- STAG1 1
- STAG2 1
- STAMBP 1
- STAR 1
- STAT1 1
- STAT2 1
- STAT3 1
- STAT5B 1
- STIL 1
- STIM1 1
- STK11 1
- STK4 1
- STRA6 1
- STRADA 1
- STRC 1
- STS 1
- STUB1 2
- STX11 1
- STX1B 1
- STXBP1 2
- STXBP2 1
- SUCLA2 1
- SUCLG1 1
- SUMF1 1
- SUOX 1
- SURF1 1
- SUZ12 1
- SYN1 1
- SYNE1 1
- SYNGAP1 1
- SYNJ1 1
- SYP 1
- SYT1 1
- SZT2 1
- TAB2 1
- TACO1 1
- TAF1 1
- TAF6 1
- TALDO1 1
- TANGO2 1
- TAP1 1
- TAP2 1
- TAPBP 1
- TAPT1 1
- TARDBP 1
- TAT 1
- TAZ 1
- TBC1D20 1
- TBC1D23 1
- TBC1D24 1
- TBCD 1
- TBCE 1
- TBCK 1
- TBK1 1
- TBL1XR1 1
- TBP 1
- TBR1 1
- TBX1 1
- TBX15 1
- TBX18 1
- TBX20 1
- TBX22 1
- TBX3 1
- TBX4 1
- TBX5 1
- TBX6 1
- TBXA2R 1
- TBXAS1 1
- TCAP 1
- TCF12 1
- TCF20 1
- TCF3 1
- TCF4 1
- TCIRG1 1
- TCN2 1
- TCOF1 1
- TCTEX1D2 2
- TCTN1 1
- TCTN2 1
- TCTN3 1
- TECPR2 1
- TECTA 1
- TEK 1
- TELO2 1
- TENM3 1
- TERC 1
- TERT 1
- TF 1
- TFAP2A 1
- TFAP2B 1
- TFG 1
- TFR2 1
- TG 1
- TGDS 1
- TGFB1 1
- TGFB2 1
- TGFB3 1
- TGFBR1 1
- TGFBR2 1
- TGIF1 1
- TGM1 1
- TGM5 1
- TGM6 1
- TH 1
- THAP1 1
- THBD 1
- THOC2 1
- THOC6 1
- THPO 1
- THRA 1
- THRB 1
- TIA1 1
- TICAM1 1
- TIMM50 1
- TIMM8A 1
- TINF2 1
- TJP2 1
- TK2 1
- TLK2 1
- TLR3 1
- TMC1 1
- TMC6 1
- TMC8 1
- TMCO1 1
- TMEM107 1
- TMEM126B 1
- TMEM138 1
- TMEM165 1
- TMEM173 1
- TMEM216 1
- TMEM231 1
- TMEM237 1
- TMEM240 1
- TMEM38B 1
- TMEM43 1
- TMEM5 1
- TMEM67 1
- TMEM70 1
- TMEM94 1
- TMIE 1
- TMPRSS3 1
- TMPRSS6 1
- TMTC3 1
- TNFAIP3 1
- TNFRSF11A 1
- TNFRSF11B 1
- TNFRSF13B 1
- TNFRSF13C 1
- TNFRSF1A 1
- TNFSF11 1
- TNNI2 1
- TNNT1 1
- TNNT3 1
- TNS2 1
- TOE1 1
- TOP3A 1
- TOR1A 1
- TP53 1
- TP53RK 1
- TP63 1
- TPI1 1
- TPK1 1
- TPM2 1
- TPM3 1
- TPO 1
- TPP1 1
- TPP2 1
- TPRKB 1
- TRAC 1
- TRAF3IP1 1
- TRAF7 1
- TRAIP 1
- TRAK1 1
- TRAP1 1
- TRAPPC11 1
- TRAPPC12 1
- TRAPPC2 1
- TRAPPC9 1
- TREM2 1
- TREX1 1
- TRIM32 1
- TRIM37 1
- TRIM71 1
- TRIM8 1
- TRIO 1
- TRIOBP 1
- TRIP11 1
- TRIP12 1
- TRIP4 1
- TRIT1 1
- TRMT1 1
- TRMT10A 1
- TRMT10C 1
- TRMT5 1
- TRMU 1
- TRNT1 1
- TRPC6 1
- TRPM1 1
- TRPM4 1
- TRPM6 1
- TRPS1 1
- TRPV4 1
- TRPV6 1
- TRRAP 1
- TSC1 1
- TSC2 1
- TSEN2 1
- TSEN54 1
- TSFM 1
- TSHB 1
- TSHR 1
- TSPAN7 1
- TTBK2 1
- TTC19 1
- TTC21B 1
- TTC37 2
- TTC7A 1
- TTC8 1
- TTI2 1
- TTN 1
- TTPA 1
- TTR 1
- TUBA1A 1
- TUBA8 2
- TUBB 1
- TUBB1 1
- TUBB2A 2
- TUBB2B 1
- TUBB3 1
- TUBB4A 1
- TUBG1 1
- TUBGCP4 1
- TUBGCP6 1
- TUFM 1
- TUSC3 1
- TWIST1 1
- TWIST2 1
- TWNK 1
- TXNDC15 1
- TXNL4A 1
- TYK2 1
- TYMP 1
- TYR 1
- TYROBP 1
- TYRP1 1
- UBA1 1
- UBA5 1
- UBAP1 1
- UBE2A 1
- UBE2T 1
- UBE3A 1
- UBE3B 1
- UBR1 1
- UBTF 1
- UCHL1 2
- UFC1 1
- UFM1 1
- UGT1A1 1
- UMOD 1
- UMPS 1
- UNC13D 1
- UNC80 1
- UNC93B1 1
- UNG 1
- UPF3B 1
- UQCC2 1
- UQCRB 1
- UROD 1
- UROS 1
- USB1 1
- USH1C 1
- USH1G 1
- USH2A 1
- USP18 1
- USP9X 1
- UVSSA 1
- VAC14 1
- VAMP1 1
- VAMP2 1
- VARS 1
- VARS2 1
- VCAN 1
- VCP 1
- VDR 1
- VHL 1
- VIPAS39 1
- VKORC1 1
- VLDLR 1
- VMA21 1
- VPS11 1
- VPS13A 1
- VPS13B 1
- VPS13D 1
- VPS33B 1
- VPS45 1
- VPS53 1
- VRK1 1
- VSX2 1
- VWF 1
- WAC 1
- WARS2 1
- WAS 1
- WASF1 1
- WASHC5 1
- WDR11 1
- WDR19 1
- WDR26 1
- WDR34 2
- WDR35 1
- WDR37 1
- WDR4 1
- WDR45 1
- WDR45B 1
- WDR60 2
- WDR62 1
- WDR73 1
- WDR81 1
- WFS1 1
- WISP3 1
- WNT1 1
- WNT10A 1
- WNT10B 1
- WNT5A 1
- WNT7A 1
- WRAP53 1
- WRN 1
- WT1 1
- WWOX 1
- XDH 1
- XIAP 1
- XPA 1
- XPC 1
- XPR1 1
- XRCC4 1
- XYLT1 1
- XYLT2 1
- YARS2 1
- YWHAG 1
- YY1 1
- ZAP70 1
- ZBTB18 1
- ZBTB20 1
- ZBTB24 1
- ZC4H2 1
- ZDHHC9 1
- ZEB2 1
- ZFP57 1
- ZFYVE26 1
- ZIC1 1
- ZIC2 1
- ZIC3 1
- ZMIZ1 1
- ZMPSTE24 1
- ZMYND11 1
- ZNF142 1
- ZNF148 1
- ZNF292 2
- ZNF462 1
- ZNF469 1
- ZNF711 1
- ZSWIM6 1
- ACD 1
- ACTL6A 1
- ADAM17 1
- APOL1 1
- ATP8A2 1
- ATPAF2 1
- BCL10 1
- BLNK 1
- CASP8 1
- CDC6 1
- CFB 1
- COQ7 1
- COX14 1
- CPT1C 1
- DDOST 1
- DPP6 3
- FASTKD2 1
- FRMD4A 1
- GAD1 1
- GFI1 1
- HARS2 1
- HTT 3
- HYAL1 1
- IL17F 1
- IL21 1
- IRF7 1
- KCNT2 1
- KIAA0753 1
- LCK 1
- LIG1 1
- MAP3K14 1
- MRPL44 1
- MTPAP 1
- NADK2 1
- NCF4 1
- NDUFA2 1
- NIN 1
- PCK1 1
- PEX11B 1
- PNPLA8 1
- PRKACG 1
- PTCHD1 1
- RB1 1
- REEP2 1
- RHOH 1
- SCP2 1
- SEMA3E 1
- SIGMAR1 1
- SLC18A2 1
- SLC25A32 1
- SNAP25 1
- SQSTM1 3
- TPM4 1
- TRAF3 1
- TSEN34 1
- UNC119 1
- UROC1 1
- WDPCP 1
- WIPF1 1
- WNT3 1
- ATG16L1 1
- CD46 1
- CFHR1 1
- CFHR2 1
- CFHR3 1
- CFHR4 1
- CPA6 3
- DCXR 1
- DRD2 1
- EZH1 1
- FPR1 1
- GNAQ 1
- HMGA2 1
- IDH1 1
- IL10 1
- IL17A 1
- IL22 1
- ITGAM 1
- KIRREL3 1
- MBL2 1
- MEN1 1
- MUTYH 1
- NFAT5 1
- NRXN3 1
- PRICKLE2 1
- PRNP 3
- RNF135 1
- RNF31 1
- RPS15 1
- SART3 1
- SIM1 1
- SLC6A20 2
- SMO 1
- TNFRSF4 1
- TNFSF12 1
- TRAF3IP2 1
- VPS35 1
Research panel - Severe Paediatric Disorders
Gene: SDHA Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels
1 review
Louise Daugherty (Genomics England Curator)
I don't know
Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SDHA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, dilated, 1GG, 613642 (3) | Leigh syndrome, 256000 (3) | Mitochondrial respiratory chain complex II deficiency, 252011 (3) | Paragangliomas 5, 614165 (3); Mode of inheritance: ND | Autosomal recessive, Mitochondrial | Autosomal recessive | Autosomal dominantCreated: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Next Generation Children Project
- Expert Review Green
- Expert list
- Phenotypes
-
- Paragangliomas 5, 614165
- Leigh syndrome, 256000
- Mitochondrial respiratory chain complex II deficiency, 252011
- Cardiomyopathy, dilated, 1GG, 613642
- OMIM
- 600857
- Clinvar variants
- Variants in SDHA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Sarcoma susceptibility
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Inherited predisposition to GIST
- DDG2P
- Neuroendocrine cancer pertinent cancer susceptibility
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Likely inborn error of metabolism
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, adult onset
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Optic neuropathy
- Mitochondrial disorder with complex II deficiency
- Intellectual disability
- Inherited white matter disorders
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Adult solid tumours for rare disease
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene SDHA were updated from to 30847515
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Paragangliomas 5, 614165; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000 for gene: SDHA
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
Added New Source
Louise Daugherty (Genomics England Curator)Source Next Generation Children Project was added to SDHA.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SDHA. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SDHA was added gene: SDHA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SDHA was set to