- 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: SUCLA2 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000136143
EnsemblGeneIds (GRCh37): ENSG00000136143
OMIM: 603921, Gene2Phenotype
SUCLA2 is in 20 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: SUCLA2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3); Mode of inheritance: Autosomal recessiveCreated: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Next Generation Children Project
- Expert Review Green
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
- OMIM
- 603921
- Clinvar variants
- Variants in SUCLA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary neuropathy
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene SUCLA2 were updated from to 30847515
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
Added New Source
Louise Daugherty (Genomics England Curator)Source Next Generation Children Project was added to SUCLA2.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SUCLA2. 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: SUCLA2 was added gene: SUCLA2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SUCLA2 was set to