- 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: FLVCR1 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000162769
EnsemblGeneIds (GRCh37): ENSG00000162769
OMIM: 609144, Gene2Phenotype
FLVCR1 is in 18 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: FLVCR1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, 609033 (3); Mode of inheritance: Autosomal recessiveCreated: 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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Next Generation Children Project
- Expert Review Green
- Expert list
- Phenotypes
-
- Ataxia, posterior column, with retinitis pigmentosa, 609033
- OMIM
- 609144
- Clinvar variants
- Variants in FLVCR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- DDG2P
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Severe microcephaly
- Structural eye disease
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Pain syndromes
- Hereditary ataxia
- Limb disorders
- Hereditary ataxia with onset in adulthood
- Glaucoma (developmental)
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene FLVCR1 were updated from to 30847515
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1
Added New Source
Louise Daugherty (Genomics England Curator)Source Next Generation Children Project was added to FLVCR1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to FLVCR1. 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: FLVCR1 was added gene: FLVCR1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FLVCR1 was set to