- 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: SDCCAG8 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000054282
EnsemblGeneIds (GRCh37): ENSG00000054282
OMIM: 613524, Gene2Phenotype
SDCCAG8 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: SDCCAG8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bardet-Biedl syndrome 16, 615993 (3) | Senior-Loken syndrome 7, 613615 (3); Mode of inheritance: Autosomal recessive | NDCreated: 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
-
- Senior-Loken syndrome 7, 613615
- Bardet-Biedl syndrome 16, 615993
- OMIM
- 613524
- Clinvar variants
- Variants in SDCCAG8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal ciliopathies
- Intellectual disability
- Ophthalmological ciliopathies
- Cystic kidney disease
- Fetal anomalies
- Structural eye disease
- Renal ciliopathies
- Severe early-onset obesity
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Ductal plate malformation
- Limb disorders
- DDG2P
- Retinal disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene SDCCAG8 were updated from to 30847515
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Bardet-Biedl syndrome 16, 615993; Senior-Loken syndrome 7, 613615 for gene: SDCCAG8
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene SDCCAG8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Added New Source
Louise Daugherty (Genomics England Curator)Source Next Generation Children Project was added to SDCCAG8.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SDCCAG8. 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: SDCCAG8 was added gene: SDCCAG8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SDCCAG8 was set to