- 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: GLI3 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 25 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: GLI3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Greig cephalopolysyndactyly syndrome, 175700 (3) | Pallister-Hall syndrome, 146510 (3) | Polydactyly, postaxial, types A1 and B, 174200 (3) | Polydactyly, preaxial, type IV, 174700 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominantCreated: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Next Generation Children Project
- Expert Review Green
- Expert list
- Phenotypes
-
- Pallister-Hall syndrome, 146510
- Greig cephalopolysyndactyly syndrome, 175700
- Polydactyly, preaxial, type IV, 174700
- Polydactyly, postaxial, types A1 and B, 174200
- OMIM
- 165240
- Clinvar variants
- Variants in GLI3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neurological ciliopathies
- Early onset or syndromic epilepsy
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- Skeletal ciliopathies
- Non-syndromic familial congenital anorectal malformations
- Clefting
- CAKUT
- Intellectual disability
- Ophthalmological ciliopathies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Hydrocephalus
- Monogenic hearing loss
- Skeletal dysplasia
- Monogenic short stature
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Pituitary hormone deficiency
- IUGR and IGF abnormalities
- Unexplained young onset end-stage renal disease - additional genes
- Limb disorders
- DDG2P
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene GLI3 were updated from to 30847515
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pallister-Hall syndrome, 146510; Greig cephalopolysyndactyly syndrome, 175700; Polydactyly, preaxial, type IV, 174700; Polydactyly, postaxial, types A1 and B, 174200 for gene: GLI3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pallister-Hall syndrome, 146510; Greig cephalopolysyndactyly syndrome, 175700; Polydactyly, preaxial, type IV, 174700; Polydactyly, postaxial, types A1 and B, 174200 for gene: GLI3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pallister-Hall syndrome, 146510; Greig cephalopolysyndactyly syndrome, 175700; Polydactyly, preaxial, type IV, 174700; Polydactyly, postaxial, types A1 and B, 174200 for gene: GLI3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Greig cephalopolysyndactyly syndrome, 175700; Pallister-Hall syndrome, 146510; Polydactyly, preaxial, type IV, 174700; Polydactyly, postaxial, types A1 and B, 174200 for gene: GLI3
Added New Source
Louise Daugherty (Genomics England Curator)Source Next Generation Children Project was added to GLI3.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to GLI3. 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: GLI3 was added gene: GLI3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GLI3 was set to