- AAAS 1
- AARS 1
- ABAT 1
- ABCA2 1
- ABCC9 1
- ABCD1 1
- ABCD4 1
- ABHD16A 2
- ABHD5 1
- ACAD9 1
- ACADM 1
- ACBD6 2
- ACO2 1
- ACOX1 1
- ACSL4 2
- ACTB 1
- ACTG1 1
- ACTL6A 1
- ACTL6B 1
- ACY1 1
- ADAM22 2
- ADAMTS10 1
- ADAR 1
- ADARB1 2
- ADAT3 1
- ADD1 1
- ADD3 1
- ADGRG1 1
- ADGRL1 2
- ADK 1
- ADNP 1
- ADSL 1
- AFF2 1
- AFF3 1
- AFF4 2
- AGA 1
- AGMO 2
- AGO1 1
- AGO2 1
- AGTPBP1 1
- AHCY 1
- AHDC1 1
- AHI1 1
- AIFM1 1
- AIMP1 1
- AJAP1 1
- AKT3 1
- ALDH18A1 1
- ALDH3A2 1
- ALDH4A1 1
- ALDH5A1 1
- ALDH7A1 1
- ALG1 1
- ALG11 1
- ALG12 1
- ALG13 1
- ALG14 1
- ALG3 1
- ALG6 1
- ALG8 2
- ALG9 1
- ALKBH8 1
- ALMS1 2
- AMER1 1
- AMOTL1 1
- AMPD2 1
- AMT 1
- ANK2 2
- ANK3 1
- ANKRD11 1
- ANKRD17 2
- ANO4 1
- AP1B1 1
- AP1G1 1
- AP1S1 1
- AP1S2 1
- AP2M1 1
- AP3B1 1
- AP3B2 1
- AP4B1 1
- AP4E1 1
- AP4M1 1
- AP4S1 1
- APC2 1
- APOPT1 1
- ARCN1 1
- ARF1 1
- ARF3 3
- ARFGEF1 1
- ARFGEF2 1
- ARG1 1
- ARHGAP35 2
- ARHGEF9 1
- ARID1A 1
- ARID1B 1
- ARID2 2
- ARL13B 1
- ARL6 1
- ARMC9 1
- ARPC4 1
- ARSA 1
- ARSB 1
- ARSE 1
- ARV1 1
- ARX 1
- ASAH1 1
- ASCC3 1
- ASH1L 1
- ASL 1
- ASNS 1
- ASPA 1
- ASPM 1
- ASS1 1
- ASTN1 1
- ASXL1 1
- ASXL2 1
- ASXL3 1
- ATAD1 1
- ATAD3A 1
- ATG4D 2
- ATG7 1
- ATIC 1
- ATN1 1
- ATP1A1 1
- ATP1A2 1
- ATP1A3 2
- ATP2B1 2
- ATP2B2 1
- ATP5O 1
- ATP6AP1 1
- ATP6AP2 1
- ATP6V0A1 2
- ATP6V0A2 1
- ATP6V0C 2
- ATP6V1A 1
- ATP6V1B2 1
- ATP7A 1
- ATP8A2 1
- ATP9A 1
- ATR 1
- ATRX 1
- ATXN7L3 1
- AUH 1
- AUTS2 1
- AXIN1 2
- B3GALNT2 1
- B3GLCT 1
- B4GALNT1 1
- B4GALT1 1
- B4GALT7 1
- B9D2 1
- BAP1 1
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCAP31 1
- BCAS3 2
- BCKDHA 1
- BCKDHB 1
- BCKDK 2
- BCL11A 1
- BCL11B 1
- BCOR 1
- BCS1L 1
- BHLHE22 1
- BICRA 4
- BLOC1S1 1
- BMP4 2
- BOLA3 2
- BORCS8 2
- BPTF 1
- BRAF 1
- BRAT1 1
- BRD4 2
- BRF1 1
- BRPF1 1
- BRSK2 1
- BRWD3 1
- BSCL2 1
- BSND 1
- BTD 1
- BUB1B 2
- C12orf4 1
- C12orf57 1
- C12orf65 1
- C12orf66 3
- C16orf62 2
- C2CD3 1
- C2orf69 1
- C5orf42 1
- CA2 1
- CA8 1
- CACHD1 1
- CACNA1A 1
- CACNA1B 1
- CACNA1C 2
- CACNA1D 1
- CACNA1E 1
- CACNA1G 2
- CACNA1I 1
- CACNA2D1 2
- CACNA2D2 1
- CAD 1
- CAMK2A 1
- CAMK2B 1
- CAMK2D 1
- CAMK4 1
- CAMSAP1 2
- CAMTA1 2
- CAPN15 1
- CAPRIN1 3
- CAPZA2 2
- CARS 1
- CARS2 1
- CASK 2
- CASP2 2
- CBL 1
- CBS 2
- CBX1 1
- CBY1 1
- CC2D1A 1
- CC2D2A 1
- CCBE1 1
- CCDC115 1
- CCDC22 1
- CCDC47 1
- CCDC82 2
- CCDC88A 1
- CCDC88C 2
- CCND2 1
- CCT3 2
- CCT6A 1
- CDC42 1
- CDC42BPB 2
- CDH11 2
- CDH2 1
- CDK10 2
- CDK13 1
- CDK16 2
- CDK19 1
- CDK5RAP2 1
- CDK8 1
- CDKL5 1
- CDON 1
- CELF2 1
- CELSR3 1
- CENPF 1
- CENPJ 1
- CEP104 2
- CEP120 1
- CEP135 1
- CEP152 1
- CEP164 1
- CEP290 1
- CEP295 1
- CEP41 1
- CEP55 1
- CEP57 1
- CEP76 1
- CEP83 1
- CEP85L 1
- CHAMP1 1
- CHD1 1
- CHD2 2
- CHD3 1
- CHD4 1
- CHD5 1
- CHD7 1
- CHD8 1
- CHKA 2
- CHKB 1
- CHMP1A 1
- CIC 1
- CIT 1
- CKAP2L 1
- CLCN3 1
- CLCN4 1
- CLCN6 1
- CLCNKB 1
- CLDN5 2
- CLN3 1
- CLN5 1
- CLN6 1
- CLN8 1
- CLP1 1
- CLPB 1
- CLTC 1
- CNKSR2 1
- CNNM2 1
- CNOT1 3
- CNOT2 1
- CNOT3 2
- CNOT9 1
- CNPY3 1
- CNTNAP1 1
- CNTNAP2 1
- COASY 1
- COG1 1
- COG4 1
- COG5 1
- COG6 1
- COG7 1
- COG8 1
- COL4A1 1
- COL4A2 1
- COL4A3BP 2
- COLEC11 1
- COPB2 2
- COQ4 1
- COQ8A 1
- COX10 1
- COX11 1
- COX15 1
- CPE 1
- CPS1 1
- CPSF3 2
- CRADD 1
- CRB2 1
- CREBBP 1
- CRELD1 2
- CRIPT 1
- CRLS1 2
- CRNKL1 1
- CSDE1 1
- CSMD1 1
- CSNK1G1 3
- CSNK2A1 1
- CSNK2B 1
- CSPP1 1
- CTBP1 1
- CTCF 1
- CTDP1 1
- CTNNA2 1
- CTNNB1 1
- CTR9 2
- CTSA 1
- CTSD 1
- CTU2 1
- CUL3 2
- CUL4B 1
- CUX1 1
- CUX2 1
- CWC27 1
- CWF19L1 1
- CXorf56 1
- CYB5R3 1
- CYFIP2 1
- CYHR1 2
- D2HGDH 1
- DAG1 2
- DAGLA 1
- DARS 1
- DARS2 1
- DBT 1
- DCAF17 1
- DCHS1 1
- DCPS 1
- DCX 1
- DDB1 2
- DDC 1
- DDHD2 1
- DDX11 1
- DDX17 1
- DDX23 2
- DDX3X 2
- DDX59 1
- DDX6 1
- DEAF1 1
- DEGS1 1
- DENND5A 1
- DENND5B 1
- DEPDC5 2
- DHCR24 1
- DHCR7 1
- DHDDS 1
- DHFR 1
- DHPS 1
- DHRSX 1
- DHX30 1
- DHX37 2
- DHX9 1
- DIAPH1 3
- DIP2C 1
- DIS3L2 1
- DISP1 1
- DKC1 1
- DLD 2
- DLG3 1
- DLG4 2
- DLL1 1
- DMAP1 2
- DMD 1
- DMXL2 1
- DNAJC12 1
- DNAJC19 1
- DNM1 1
- DNM1L 1
- DNMT3A 1
- DNMT3B 1
- DOCK3 1
- DOCK4 2
- DOCK6 1
- DOCK7 1
- DOHH 2
- DOLK 1
- DOT1L 1
- DPAGT1 1
- DPF2 1
- DPH1 1
- DPH5 1
- DPM1 1
- DPM2 1
- DPYS 1
- DPYSL5 1
- DRG1 1
- DTYMK 2
- DYM 1
- DYNC1H1 1
- DYNC1I2 1
- DYRK1A 1
- EARS2 1
- EBF3 1
- EBP 1
- EDEM3 2
- EED 1
- EEF1A2 1
- EEF1B2 2
- EEF2 1
- EEFSEC 1
- EFTUD2 1
- EHMT1 1
- EIF2AK2 2
- EIF2AK3 1
- EIF2S3 1
- EIF3F 2
- EIF4A2 1
- EIF4A3 1
- EIF5A 1
- ELAC2 1
- ELOVL4 1
- ELP2 2
- EMC1 3
- EMC10 2
- EML1 1
- ENTPD1 1
- EP300 1
- EP400 1
- EPB41L3 1
- EPG5 1
- EPRS 1
- ERCC1 1
- ERCC2 1
- ERCC3 1
- ERCC5 1
- ERCC6 1
- ERCC6L2 2
- ERCC8 1
- ERF 2
- ERI1 2
- ERLIN2 1
- ESAM 2
- ESCO2 1
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 1
- EXOC7 1
- EXOSC3 2
- EXOSC8 1
- EXT2 1
- EXTL3 1
- EZH1 1
- EZH2 1
- FAM126A 1
- FAM149B1 1
- FAM177A1 1
- FAM20C 1
- FAM50A 1
- FAR1 1
- FARS2 1
- FARSA 1
- FARSB 1
- FASTKD2 2
- FAT4 1
- FBRSL1 1
- FBXL3 2
- FBXL4 1
- FBXO11 1
- FBXO28 1
- FBXO31 4
- FBXW11 2
- FBXW7 1
- FDFT1 1
- FDXR 1
- FEM1B 1
- FEM1C 1
- FEZF2 1
- FGD1 1
- FGF12 1
- FGF13 1
- FGF14 1
- FGFR1 1
- FGFR3 1
- FH 1
- FIG4 1
- FITM2 1
- FKRP 1
- FKTN 1
- FLNA 1
- FLVCR1 2
- FLVCR2 1
- FMN2 1
- FMR1 1
- FOLR1 1
- FOSL2 2
- FOXG1 1
- FOXP1 2
- FOXP2 1
- FOXP4 1
- FOXRED1 1
- FRA10AC1 1
- FRAS1 1
- FRMD5 1
- FRMPD4 1
- FRRS1L 1
- FRYL 2
- FSD1L 1
- FTO 2
- FTSJ1 1
- FUCA1 1
- FUK 2
- FUT8 1
- FZR1 1
- GABBR1 1
- GABBR2 1
- GABRA1 1
- GABRA2 1
- GABRA3 1
- GABRA4 2
- GABRA5 1
- GABRB2 1
- GABRB3 1
- GABRD 1
- GABRG2 1
- GAD1 1
- GALC 1
- GALE 1
- GALNT2 1
- GALT 1
- GAMT 1
- GATA6 1
- GATAD2A 1
- GATAD2B 1
- GATM 1
- GCDH 1
- GCH1 1
- GCSH 2
- GDI1 2
- GEMIN4 2
- GEMIN5 1
- GFAP 1
- GFER 1
- GFM1 1
- GFM2 1
- GIGYF1 2
- GJC2 1
- GK 1
- GLB1 1
- GLDC 1
- GLI2 1
- GLI3 1
- GLIS3 1
- GLRA2 1
- GLS 1
- GLUL 1
- GM2A 1
- GMPPA 1
- GMPPB 1
- GNAI1 2
- GNAO1 1
- GNAS 1
- GNB1 1
- GNB2 3
- GNB5 1
- GNE 1
- GNPAT 1
- GNPTAB 1
- GNPTG 1
- GNS 1
- GOLGA2 2
- GON4L 1
- GOT2 1
- GPAA1 1
- GPATCH11 2
- GPC3 1
- GPC4 1
- GPRC5B 1
- GPT2 1
- GRIA1 1
- GRIA2 2
- GRIA3 2
- GRIA4 1
- GRID2 1
- GRIK2 1
- GRIN1 1
- GRIN2A 2
- GRIN2B 1
- GRIN2D 1
- GRM1 2
- GRM7 1
- GSS 1
- GTF2H5 2
- GTF3C3 2
- GTF3C5 1
- GTPBP1 2
- GTPBP2 1
- GTPBP3 1
- GUSB 1
- H3F3A 1
- H3F3B 1
- HACE1 1
- HADHA 1
- HADHB 1
- HCCS 2
- HCFC1 1
- HCN1 1
- HDAC3 1
- HDAC4 2
- HDAC8 1
- HECTD1 1
- HECTD4 2
- HECW2 2
- HEPACAM 1
- HERC1 1
- HERC2 2
- HESX1 2
- HEXA 1
- HEXB 1
- HGSNAT 1
- HIBCH 1
- HID1 1
- HIKESHI 1
- HIRA 1
- HIST1H1E 2
- HIST1H4C 3
- HIST1H4E 2
- HIST1H4I 2
- HIVEP2 1
- HK1 2
- HLCS 1
- HMBS 1
- HMGB1 1
- HMGCL 1
- HNMT 1
- HNRNPC 1
- HNRNPD 2
- HNRNPH1 2
- HNRNPH2 1
- HNRNPK 1
- HNRNPR 1
- HNRNPU 1
- HOXA1 1
- HPD 2
- HPDL 2
- HPRT1 1
- HRAS 1
- HS2ST1 3
- HSD17B10 1
- HSD17B4 1
- HSPD1 2
- HSPG2 1
- HTRA2 1
- HUWE1 1
- IARS 1
- IBA57 1
- IDH2 1
- IDS 1
- IDUA 1
- IER3IP1 1
- IFIH1 1
- IFT172 1
- IFT27 1
- IFT74 1
- IGF1 1
- IGF1R 1
- IKBKG 1
- IL1RAPL1 1
- IMPDH2 2
- INPP4A 2
- INPP5E 1
- INPP5K 1
- INTS1 1
- INTS11 1
- INTS13 1
- IPO8 1
- IQSEC1 1
- IQSEC2 1
- IREB2 1
- IRF2BPL 1
- IRX5 1
- ISCA1 1
- ISCA2 1
- ISPD 1
- ITFG2 3
- ITPA 1
- ITPR1 1
- ITSN1 1
- IVD 1
- JAM3 1
- JARID2 1
- JMJD1C 2
- KANSL1 1
- KARS 1
- KAT5 2
- KAT6A 1
- KAT6B 1
- KAT8 1
- KATNB1 1
- KBTBD2 1
- KCNA2 1
- KCNA3 2
- KCNB1 1
- KCNB2 1
- KCNC1 1
- KCNC2 1
- KCND1 1
- KCND2 1
- KCND3 2
- KCNH1 1
- KCNH5 2
- KCNJ10 1
- KCNJ6 1
- KCNK4 1
- KCNK9 1
- KCNMA1 1
- KCNN2 2
- KCNN3 1
- KCNQ2 1
- KCNQ3 1
- KCNQ5 1
- KCNT1 1
- KCNT2 1
- KCTD3 1
- KCTD7 1
- KDM1A 1
- KDM2A 1
- KDM2B 1
- KDM3B 2
- KDM4B 3
- KDM5A 1
- KDM5B 2
- KDM5C 1
- KDM6A 1
- KDM6B 1
- KIAA0556 1
- KIAA0586 2
- KIAA1109 1
- KIDINS220 1
- KIF11 2
- KIF14 1
- KIF1A 2
- KIF1BP 1
- KIF21B 1
- KIF26A 2
- KIF2A 1
- KIF4A 1
- KIF5C 1
- KIF7 1
- KLF7 1
- KLHL20 1
- KLHL7 1
- KMT2A 1
- KMT2B 1
- KMT2C 1
- KMT2D 2
- KMT2E 1
- KMT5B 1
- KNL1 1
- KPTN 1
- KRAS 1
- L1CAM 1
- L2HGDH 1
- LAMA1 1
- LAMA2 1
- LAMB1 1
- LAMB2 1
- LAMP2 1
- LARGE1 1
- LARP1 1
- LARP7 1
- LARS 2
- LARS2 1
- LAS1L 2
- LETM1 2
- LGI3 2
- LHX2 1
- LIAS 1
- LIG4 1
- LINC01578 1
- LINGO4 1
- LINS1 1
- LIPT1 1
- LMBRD1 1
- LMBRD2 2
- LMNB1 2
- LMNB2 2
- LNPK 2
- LONP1 1
- LRP2 1
- LRPPRC 2
- LRRC7 2
- LSS 1
- LTBP1 1
- LYRM7 1
- LZTFL1 1
- LZTR1 1
- MAB21L1 3
- MAB21L2 1
- MACF1 1
- MADD 3
- MAF 1
- MAGEL2 2
- MAN1B1 2
- MAN2B1 1
- MAN2C1 2
- MANBA 1
- MAOA 1
- MAP1B 1
- MAP2K1 1
- MAP2K2 1
- MAP4K4 2
- MAPK1 2
- MAPK8IP3 2
- MAPKAPK5 2
- MAPRE2 1
- MARK2 1
- MASP1 1
- MAST1 1
- MAST3 2
- MAST4 1
- MAT1A 1
- MAX 1
- MBD5 1
- MBOAT7 2
- MBTPS2 1
- MCM3AP 1
- MCM6 1
- MCOLN1 1
- MCPH1 1
- MDH2 1
- MECP2 1
- MED11 2
- MED12 1
- MED12L 1
- MED13 1
- MED13L 1
- MED16 1
- MED17 1
- MED23 1
- MED25 1
- MED27 2
- MEF2C 1
- MEGF8 2
- MEIS2 1
- METTL23 2
- METTL5 1
- MFF 1
- MFSD2A 1
- MFSD8 1
- MGAT2 1
- MICU1 1
- MID1 1
- MIR17HG 2
- MKKS 1
- MKS1 1
- MLC1 1
- MLYCD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 1
- MN1 2
- MOCS1 1
- MOCS2 1
- MOGS 1
- MORC2 2
- MPDU1 1
- MPDZ 1
- MPLKIP 1
- MPP5 1
- MPV17 1
- MRAS 1
- MRPL49 1
- MRPS22 1
- MRPS34 1
- MSL2 2
- MSL3 1
- MSMO1 1
- MTFMT 1
- MTHFR 1
- MTHFS 1
- MTO1 1
- MTOR 1
- MTR 1
- MTRR 1
- MTSS1L 1
- MUT 1
- MVK 1
- MYCBP2 2
- MYCN 2
- MYH10 1
- MYO5A 1
- MYT1L 2
- NAA10 2
- NAA15 2
- NAA20 2
- NACC1 1
- NAE1 1
- NAGA 1
- NAGLU 1
- NALCN 1
- NANS 1
- NAPB 1
- NARS 2
- NAV3 1
- NBEA 1
- NCAPD2 2
- NCDN 2
- NCKAP1 1
- NDC1 1
- NDE1 1
- NDP 1
- NDST1 1
- NDUFA1 1
- NDUFA2 1
- NDUFAF1 1
- NDUFS1 1
- NDUFS4 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NEDD4L 1
- NEMF 2
- NEU1 1
- NEUROD2 1
- NEUROG1 1
- NEXMIF 1
- NF1 1
- NFASC 1
- NFIA 1
- NFIB 1
- NFIX 1
- NFU1 1
- NGLY1 2
- NHS 1
- NIPBL 1
- NKAP 1
- NKX2-1 1
- NLGN3 1
- NLGN4X 2
- NONO 1
- NOTCH1 1
- NOTCH3 2
- NOVA2 1
- NPC1 1
- NPC2 1
- NPHP1 1
- NPHP3 1
- NR2F1 1
- NR2F2 2
- NR4A2 2
- NRAS 1
- NRCAM 2
- NRROS 1
- NRXN1 1
- NSD1 1
- NSD2 1
- NSDHL 1
- NSRP1 2
- NSUN2 2
- NSUN6 3
- NT5C2 1
- NTNG2 1
- NTRK1 1
- NTRK2 1
- NUBPL 1
- NUDT2 1
- NUP188 1
- NUP214 2
- NUS1 1
- OCLN 1
- OCRL 1
- ODC1 1
- OFD1 1
- OGDH 1
- OGDHL 2
- OGT 1
- OPA3 1
- OPHN1 1
- OSGEP 1
- OTC 1
- OTUD5 2
- OTUD6B 1
- OTX2 1
- OXR1 1
- P4HTM 1
- PABPC1 1
- PACS1 1
- PACS2 1
- PAFAH1B1 1
- PAH 1
- PAK1 1
- PAK2 1
- PAK3 1
- PAM16 1
- PAN2 1
- PARN 1
- PARP6 1
- PAX5 2
- PAX6 1
- PAX8 1
- PBX1 1
- PC 1
- PCBP2 1
- PCCA 1
- PCCB 1
- PCDH12 1
- PCDH19 1
- PCDHGC4 1
- PCGF2 1
- PCYT2 1
- PDE10A 1
- PDE4D 2
- PDE6D 1
- PDGFRB 1
- PDHA1 1
- PDHB 1
- PDHX 1
- PDP1 1
- PDSS1 1
- PDZD8 1
- PEPD 1
- PET100 1
- PEX1 1
- PEX10 1
- PEX11B 1
- PEX12 1
- PEX13 1
- PEX14 1
- PEX16 1
- PEX19 1
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 1
- PEX6 1
- PEX7 1
- PGAP1 1
- PGAP2 1
- PGAP3 1
- PGK1 1
- PGM2L1 1
- PGM3 1
- PHACTR1 1
- PHF21A 2
- PHF5A 1
- PHF6 1
- PHF8 1
- PHGDH 1
- PHIP 1
- PI4K2A 1
- PI4KA 1
- PIBF1 2
- PIDD1 2
- PIGA 1
- PIGB 2
- PIGC 1
- PIGG 1
- PIGH 1
- PIGK 1
- PIGL 1
- PIGN 1
- PIGO 1
- PIGP 2
- PIGQ 1
- PIGS 1
- PIGT 1
- PIGU 1
- PIGV 1
- PIGW 1
- PIK3C2A 1
- PIK3CA 1
- PIK3R2 1
- PIP5K1C 1
- PISD 1
- PITRM1 1
- PLA2G16 2
- PLA2G6 1
- PLAA 1
- PLCB1 1
- PLK1 1
- PLK4 1
- PLP1 1
- PLPBP 1
- PLXNA1 2
- PLXNB2 1
- PMM2 1
- PMPCA 1
- PMPCB 1
- PNKP 1
- PNPLA6 1
- PNPLA8 1
- PNPT1 1
- POGZ 1
- POLA1 1
- POLG 1
- POLR1A 2
- POLR1C 1
- POLR2A 1
- POLR3A 1
- POLR3B 1
- POLR3K 1
- POLRMT 1
- POMGNT1 1
- POMGNT2 1
- POMK 1
- POMT1 1
- POMT2 1
- PORCN 1
- POU3F2 1
- POU3F3 2
- PPFIA3 1
- PPFIBP1 2
- PPIL1 1
- PPM1D 1
- PPP1CB 1
- PPP1R12A 1
- PPP1R21 1
- PPP1R3F 1
- PPP2CA 1
- PPP2R1A 1
- PPP2R5C 2
- PPP2R5D 1
- PPP3CA 1
- PPT1 1
- PQBP1 1
- PRDM13 3
- PRKACB 2
- PRKAR1A 1
- PRKAR1B 2
- PRMT7 1
- PRODH 1
- PRPF19 1
- PRPF8 1
- PRPS1 1
- PRR12 1
- PRUNE1 1
- PSAP 1
- PSMC3 2
- PSMC5 2
- PSMD11 1
- PSMD12 1
- PSMF1 1
- PSPH 1
- PTCD3 1
- PTCH1 1
- PTCHD1 1
- PTDSS1 1
- PTEN 1
- PTF1A 1
- PTPMT1 1
- PTPN11 1
- PTPN23 1
- PTPN4 1
- PTRH2 2
- PTRHD1 1
- PTS 1
- PUF60 1
- PUM1 1
- PURA 1
- PUS1 1
- PUS3 1
- PUS7 1
- PYCR1 1
- PYCR2 1
- QARS 1
- QDPR 1
- QRICH1 1
- RAB11A 1
- RAB11B 1
- RAB18 1
- RAB23 1
- RAB39B 1
- RAB3GAP1 1
- RAB3GAP2 1
- RAB5C 1
- RABGAP1 1
- RAC1 1
- RAC3 1
- RAD21 1
- RAF1 1
- RAI1 1
- RALA 1
- RALGAPA1 1
- RAP1B 2
- RAP1GDS1 1
- RARB 1
- RARS 1
- RARS2 1
- RBBP5 1
- RBBP8 2
- RBFOX1 2
- RBL2 2
- RBM10 1
- RBSN 3
- RELN 2
- RERE 1
- RFC4 2
- RFT1 1
- RFX3 1
- RFX4 1
- RFX7 1
- RHEB 1
- RHOBTB2 1
- RICTOR 1
- RIT1 1
- RLIM 1
- RMND1 2
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNASET2 1
- RNF113A 2
- RNF125 1
- RNF13 1
- RNF220 2
- RNU2-2P 1
- RNU4-2 1
- RNU4ATAC 1
- RNU5B-1 1
- RNU7-1 2
- ROBO1 2
- ROGDI 1
- ROR2 2
- RORA 1
- RPGRIP1L 1
- RPH3A 1
- RPIA 1
- RPL10 1
- RPS6KA3 1
- RRAS2 2
- RRM2B 1
- RSRC1 1
- RTEL1 1
- RTN4IP1 1
- RTTN 1
- RUNX1T1 1
- RYBP 1
- SAMD9 2
- SAMHD1 1
- SARS 3
- SARS2 1
- SART3 1
- SASS6 1
- SATB1 3
- SATB2 1
- SBF1 1
- SC5D 1
- SCAF4 2
- SCAMP5 2
- SCAPER 1
- SCN1A 1
- SCN1B 1
- SCN2A 1
- SCN3A 1
- SCN8A 1
- SCO2 1
- SDCCAG8 1
- SDHA 1
- SDHAF1 1
- SECISBP2 2
- SEL1L 2
- SEMA6B 1
- SEPHS1 1
- SEPSECS 1
- SERAC1 1
- SET 1
- SETBP1 1
- SETD1A 1
- SETD1B 1
- SETD2 1
- SETD5 1
- SF3B1 1
- SFXN4 1
- SGPL1 1
- SGSH 1
- SGSM3 2
- SHANK1 3
- SHANK2 2
- SHANK3 1
- SHH 1
- SHMT2 2
- SHOC2 1
- SIAH1 1
- SIK1 1
- SIL1 1
- SIN3A 1
- SIN3B 1
- SIX3 2
- SKI 2
- SLC12A2 3
- SLC12A5 1
- SLC12A6 1
- SLC12A9 1
- SLC13A5 1
- SLC16A2 1
- SLC17A5 1
- SLC18A2 1
- SLC19A3 1
- SLC1A2 1
- SLC1A4 1
- SLC25A1 2
- SLC25A12 1
- SLC25A15 1
- SLC25A22 1
- SLC2A1 1
- SLC30A9 1
- SLC32A1 2
- SLC33A1 1
- SLC35A2 1
- SLC35C1 1
- SLC38A3 2
- SLC39A14 1
- SLC39A8 1
- SLC45A1 1
- SLC46A1 1
- SLC4A10 2
- SLC4A4 1
- SLC5A6 1
- SLC6A1 1
- SLC6A19 1
- SLC6A3 1
- SLC6A8 1
- SLC6A9 1
- SLC9A6 1
- SLF2 1
- SLITRK2 2
- SMAD4 1
- SMARCA2 1
- SMARCA4 1
- SMARCA5 1
- SMARCB1 2
- SMARCC2 1
- SMARCD1 1
- SMARCE1 1
- SMC1A 1
- SMC3 1
- SMC5 1
- SMG8 2
- SMG9 1
- SMOC1 1
- SMPD1 1
- SMPD4 1
- SMS 1
- SNAP25 1
- SNAP29 2
- SNAPC4 1
- SNF8 2
- SNRPB 1
- SNX14 1
- SNX27 1
- SOD1 1
- SON 1
- SOS1 1
- SOS2 1
- SOX10 1
- SOX11 2
- SOX2 1
- SOX4 1
- SOX5 1
- SOX6 2
- SP9 1
- SPART 1
- SPATA5 1
- SPATA5L1 2
- SPECC1L 2
- SPEN 2
- SPG11 1
- SPOP 1
- SPR 2
- SPRED1 1
- SPRED2 2
- SPTAN1 1
- SPTBN1 1
- SPTBN2 1
- SPTBN4 2
- SRCAP 2
- SRD5A3 1
- SRPK3 1
- SRRM2 2
- SRSF1 2
- SSR4 2
- ST3GAL3 1
- ST3GAL5 2
- STAG1 1
- STAG2 1
- STAMBP 1
- STIL 1
- STRA6 1
- STRADA 1
- STT3A 3
- STX1A 1
- STX1B 1
- STXBP1 1
- SUCLA2 1
- SUCLG1 1
- SUFU 1
- SUMF1 1
- SUOX 1
- SUPT16H 1
- SURF1 1
- SUZ12 2
- SVBP 2
- SYN1 1
- SYNCRIP 2
- SYNGAP1 1
- SYNJ1 1
- SYP 1
- SYT1 2
- SZT2 1
- TAB2 1
- TAF1 1
- TAF2 2
- TAF4 3
- TAF6 1
- TAF8 2
- TANC2 2
- TANGO2 1
- TAOK1 2
- TAOK2 1
- TARS2 1
- TASP1 1
- TAT 1
- TAZ 1
- TBC1D20 1
- TBC1D23 1
- TBC1D24 1
- TBC1D2B 3
- TBC1D7 1
- TBCD 1
- TBCE 1
- TBCK 1
- TBL1XR1 1
- TBR1 1
- TBX1 1
- TCEAL1 2
- TCF20 1
- TCF4 1
- TCF7L2 3
- TCN2 1
- TCP1 2
- TCTN1 1
- TCTN2 1
- TCTN3 1
- TDP2 1
- TECPR2 1
- TEFM 1
- TELO2 1
- TENM3 1
- TERT 2
- TET3 1
- TFE3 2
- TGIF1 1
- TH 1
- THOC2 1
- THOC6 1
- THRA 1
- THUMPD1 2
- TIAM1 1
- TIMM50 1
- TINF2 1
- TLK2 1
- TMCO1 1
- TMEM106B 1
- TMEM147 2
- TMEM163 1
- TMEM165 1
- TMEM216 1
- TMEM218 1
- TMEM222 2
- TMEM237 1
- TMEM240 1
- TMEM5 1
- TMEM63B 1
- TMEM63C 2
- TMEM67 1
- TMEM70 2
- TMEM94 1
- TMTC3 1
- TMX2 1
- TNPO2 2
- TNR 1
- TNRC6B 2
- TOE1 1
- TOGARAM1 1
- TP73 1
- TPP1 1
- TPP2 1
- TRA2B 1
- TRAF7 1
- TRAIP 1
- TRAK1 1
- TRAPPC10 2
- TRAPPC11 1
- TRAPPC12 1
- TRAPPC4 1
- TRAPPC6B 1
- TRAPPC9 2
- TREX1 1
- TRIM8 1
- TRIO 1
- TRIP12 1
- TRIT1 1
- TRMT1 1
- TRMT10A 1
- TRNT1 1
- TRPM3 1
- TRPM7 1
- TRRAP 1
- TSC1 1
- TSC2 1
- TSEN15 1
- TSEN2 1
- TSEN54 1
- TSFM 2
- TSHB 2
- TSPOAP1 2
- TTC19 1
- TTC37 1
- TTC5 2
- TTC8 1
- TTI1 3
- TTI2 1
- TUBA1A 1
- TUBB 1
- TUBB2A 1
- TUBB2B 1
- TUBB3 1
- TUBB4A 1
- TUBG1 1
- TUBGCP2 1
- TUBGCP6 1
- TUSC3 1
- TWIST1 1
- U2AF2 2
- UBA5 1
- UBAP2L 2
- UBE2A 1
- UBE3A 1
- UBE3B 1
- UBE3C 2
- UBE4A 2
- UBR1 1
- UBR5 1
- UBR7 1
- UBTF 2
- UFC1 2
- UFM1 1
- UFSP2 2
- UGDH 1
- UGP2 1
- UMPS 1
- UNC13A 2
- UNC79 1
- UNC80 1
- UPB1 2
- UPF3B 2
- USP18 1
- USP27X 1
- USP7 2
- USP9X 1
- VAMP2 2
- VARS 1
- VARS2 1
- VCP 1
- VIPAS39 1
- VLDLR 1
- VPS11 1
- VPS13B 1
- VPS16 1
- VPS33B 1
- VPS41 1
- VPS4A 3
- VPS50 3
- VPS53 1
- VRK1 1
- WAC 2
- WARS 2
- WARS2 1
- WASF1 3
- WASHC4 3
- WBP4 2
- WDFY3 1
- WDPCP 1
- WDR11 4
- WDR26 1
- WDR37 1
- WDR4 2
- WDR44 1
- WDR45 1
- WDR45B 1
- WDR47 1
- WDR5 1
- WDR62 1
- WDR73 1
- WDR81 1
- WDR83OS 2
- WIPI2 2
- WNK3 2
- WNT1 1
- WNT5A 2
- WWOX 1
- XPA 2
- XRCC4 2
- XYLT1 2
- YARS 1
- YIF1B 2
- YWHAE 1
- YWHAG 1
- YY1 1
- ZBTB11 2
- ZBTB18 1
- ZBTB20 1
- ZBTB24 1
- ZBTB47 1
- ZBTB7A 1
- ZC4H2 1
- ZDHHC9 1
- ZEB2 1
- ZFHX3 2
- ZFHX4 1
- ZFX 1
- ZFYVE26 1
- ZIC1 1
- ZIC2 1
- ZMIZ1 2
- ZMYM2 2
- ZMYM3 3
- ZMYND11 1
- ZMYND8 1
- ZNF142 1
- ZNF148 1
- ZNF292 3
- ZNF335 1
- ZNF462 2
- ZNF526 1
- ZNF699 1
- ZNF711 2
- ZNHIT3 1
- ZNRF3 1
- ZRSR2 2
- ZSCAN10 2
- ZSWIM6 1
- AASS 1
- ACACA 1
- ACADS 1
- ACADSB 1
- ACAT1 1
- ADCY5 1
- AGPAT3 1
- AKAP6 1
- ALDOA 1
- ALX1 1
- ALX3 1
- ALX4 1
- ANAPC7 1
- AP2S1 1
- AQP4 1
- ARHGAP31 1
- ARHGEF40 2
- ARNT2 1
- ASTN2 1
- ATAD2B 1
- ATM 1
- ATP11A 2
- ATP13A2 1
- ATP5E 1
- ATXN2L 1
- B3GALT6 1
- B9D1 2
- BAZ2B 2
- BBIP1 1
- BCORL1 2
- BRIP1 1
- BUB1 2
- C8orf37 1
- CACNB4 1
- CAMK2G 1
- CCDC174 1
- CCDC78 1
- CCDC84 1
- CD96 1
- CDK6 1
- CDKN1C 1
- CEP63 1
- CEP89 1
- CHMP3 1
- CHRM1 1
- CHST14 1
- CLCN2 1
- CLCN7 1
- CNKSR1 1
- COG3 2
- COPB1 1
- COQ2 1
- COQ9 1
- COX14 1
- COX20 1
- COX7B 1
- CRBN 1
- CSF1R 1
- CSTF2 1
- CTC1 1
- CTNND1 1
- CTNND2 1
- DCAF15 1
- DDOST 1
- DHTKD1 1
- DHX32 1
- DLAT 1
- DLG2 1
- DPH2 2
- DPYD 1
- DPYSL2 1
- DROSHA 1
- DSCAM 1
- EEF1D 1
- EIF2A 1
- EIF3I 1
- EMG1 1
- EMX2 1
- EPHA7 1
- ERBB4 2
- ERGIC3 2
- EXOC2 2
- EXOSC2 1
- FANCB 1
- FANCD2 1
- FANCG 1
- FGFR2 1
- FIBP 1
- FICD 1
- FKBP4 1
- FOXR1 1
- FRMD4A 1
- FRY 1
- FTCD 2
- GBA 1
- GLYCTK 1
- GMNN 1
- GNAI2 1
- GNAQ 1
- GORAB 1
- GPHN 1
- GPN2 1
- GSX2 1
- GTF2E2 2
- HARS 2
- HAX1 1
- HCN2 1
- HEATR3 2
- HEATR5B 1
- HIST1H4D 1
- HIST1H4F 2
- HIST1H4J 3
- HSPA9 1
- HTT 1
- HYLS1 1
- ICE1 1
- IMPA1 1
- IQSEC3 2
- ITCH 1
- ITGA7 1
- ITGAV 1
- JAKMIP1 1
- JPH3 2
- KCNJ1 1
- KCNK3 2
- KIAA0391 2
- KIF5A 1
- KLHL15 1
- LAMC3 2
- LEO1 1
- LINGO1 1
- LIPT2 1
- LMAN2L 2
- LRRC32 1
- LRRC45 1
- LRRC8C 1
- LYST 1
- MAL 1
- MANF 1
- MCCC1 1
- MCCC2 2
- MED22 1
- MGA 1
- MKL2 1
- MMGT1 1
- MOCS3 1
- MRPL3 2
- NBN 1
- NCAPG2 2
- NDUFA10 1
- NDUFA11 1
- NDUFA8 1
- NDUFA9 1
- NDUFAF2 1
- NDUFAF3 1
- NDUFAF4 1
- NDUFAF5 1
- NDUFAF6 1
- NDUFB3 1
- NDUFB9 1
- NDUFS2 1
- NDUFS3 1
- NDUFS6 1
- NDUFV2 1
- NECAP1 1
- NHP2 1
- NMNAT1 1
- NSF 1
- NUP85 1
- OTUD7A 2
- PAX1 1
- PCNT 1
- PDCD6IP 2
- PDE2A 2
- PHC1 1
- PIEZO2 1
- PIGY 1
- PJA1 1
- PLCH1 1
- PLEKHG2 1
- PLOD3 1
- PLXNA2 1
- PPM1K 1
- PPP1R15B 1
- PPP2R2B 1
- PPP5C 1
- PRICKLE2 2
- PRKD1 2
- PRRT2 1
- PRSS12 2
- PSAT1 1
- PSMB1 1
- PTPA 1
- RAB14 1
- RAB1A 1
- RBM28 1
- RBMX 1
- REPS2 1
- RIC1 1
- RMRP 1
- RNF2 1
- RNPC3 1
- RPS23 1
- RREB1 1
- RSPRY1 1
- RUSC2 1
- SACS 1
- SEC31A 1
- SEMA3E 1
- SEMA5A 1
- SLC1A1 1
- SLC2A2 1
- SLC35A1 1
- SLC35A3 2
- SLC35B2 1
- SLC35F1 1
- SLC5A5 1
- SLC6A17 1
- SLC9A7 1
- SMARCD2 1
- SNIP1 1
- SNORD118 1
- SNRPN 1
- SOX3 2
- SOX9 2
- SREBF2 1
- STN1 1
- SV2A 2
- TACO1 1
- TAF13 1
- TAF1C 1
- TARS 1
- TGFB1 1
- THG1L 1
- THRB 1
- TKFC 1
- TKT 2
- TMEM231 1
- TNIK 1
- TOP2B 1
- TRAPPC2L 1
- TRIP13 1
- TRPC5 1
- TSHZ3 1
- TSPAN7 1
- TTL 1
- TUBGCP4 1
- TUFM 1
- UPF1 1
- UQCC2 1
- USP14 1
- VPS37A 1
- VPS51 1
- WFS1 2
- YAP1 1
- YKT6 1
- ZBTB16 1
- ZC3H14 4
- ZDHHC16 1
- ZNF407 2
- ZNF668 1
- ABCC6 2
- ABCG5 1
- ACOX2 1
- ACTA1 1
- ADA2 1
- ADAMTSL2 1
- ADGRB3 1
- ADGRG6 2
- ADRA2B 1
- AFG3L2 1
- AGGF1 1
- AGK 1
- AGL 1
- AGO3 1
- AGPS 1
- AGT 1
- AGTR2 2
- AHSG 1
- AKR1C2 1
- ALDOB 1
- ALG2 1
- ALS2 1
- ANKH 1
- ANKRD31 1
- APTX 1
- AR 1
- ARHGEF6 1
- ASMT 1
- ATL1 1
- ATP10A 1
- ATP2A2 1
- ATP2B3 1
- ATP2C2 1
- ATP6V1C1 1
- ATXN10 1
- AVP 1
- AVPR1A 2
- AVPR2 1
- B3GAT3 1
- BANF1 1
- BDNF 1
- BICD2 2
- BIN1 1
- BLM 1
- BMPER 1
- C18orf32 1
- C19orf12 1
- C20orf24 1
- C3orf58 1
- CA5A 1
- CACNG2 1
- CANT1 1
- CCDC8 1
- CDC6 1
- CDH15 3
- CDK5R1 1
- CDT1 1
- CFH 1
- CFHR1 1
- CFHR3 1
- CHRNA4 1
- CISD2 1
- CLASP1 1
- CLCNKA 1
- CLIC2 2
- CLIP2 1
- CLPP 1
- CMAS 1
- CNTN3 1
- CNTN4 1
- CNTN6 2
- CNTNAP5 1
- COA3 1
- COL18A1 1
- COL1A2 1
- COLEC10 1
- COQ5 1
- CORO1A 1
- COX4I2 1
- COX6B1 1
- CP 1
- CPA6 1
- CRKL 1
- CRLF1 1
- CRTAP 1
- CSTB 1
- CTSF 1
- CUBN 1
- CYC1 1
- CYFIP1 1
- CYP27A1 1
- CYP2U1 1
- DDR2 1
- DLGAP2 1
- DLK1 2
- DNAH14 2
- DNAJA1 1
- DNAJC3 1
- DNAJC6 1
- DOCK8 2
- DOK7 1
- DPM3 1
- DPP10 1
- DPP6 3
- DSCR3 1
- DSE 1
- DUOXA2 1
- DYNC2H1 1
- EDC3 1
- EDNRB 1
- EFNB1 1
- EFNB2 1
- EIF2AK1 1
- EIF2B1 1
- EIF2B2 1
- EIF2B3 1
- EIF2B4 1
- EIF2B5 1
- ELMOD1 1
- ELP1 1
- EOGT 1
- EOMES 1
- EPB41L1 1
- EPM2A 1
- ERCC4 1
- ERMARD 1
- ETS1 1
- EVC 1
- EVC2 1
- FA2H 1
- FAAH2 1
- FAM111A 1
- FAM160B1 1
- FBLN5 1
- FBN1 2
- FGF3 1
- FLNB 1
- FTL 1
- FZD3 1
- G6PC3 1
- GABRG1 2
- GAN 1
- GATA1 1
- GBA2 1
- GBE1 1
- GCK 1
- GHR 1
- GJA1 1
- GJB1 1
- GLRA1 1
- GLUD1 1
- GNA14 1
- GOSR2 1
- GPSM2 1
- GRPR 1
- GSPT2 1
- GTF2I 1
- GTF2IRD1 1
- GYS2 1
- H19 1
- HADH 1
- HAL 1
- HARS2 1
- HOXD10 1
- IFT140 1
- IGBP1 2
- IGF2 1
- IMMP2L 1
- INS 1
- INSR 1
- INTS8 1
- IYD 1
- JAG1 1
- KANK1 1
- KATNAL2 2
- KCNC3 1
- KCNJ11 1
- KCTD13 1
- KIF16B 1
- KIF1B 1
- KIF21A 1
- KIRREL3 2
- KLF8 1
- KLLN 1
- KYNU 1
- LBR 1
- LGI4 1
- LHX3 1
- LMNA 1
- LRP5 1
- LSM1 1
- LSM11 2
- MACROD2 1
- MAGT1 2
- MAN2A2 1
- MARK4 1
- MARS2 2
- MCM4 1
- MEPCE 1
- MET 1
- METAP1 1
- MFN2 1
- MGME1 1
- MGP 1
- MID2 1
- MLH1 1
- MNX1 1
- MPI 1
- MPZ 1
- MRAP 1
- MRPS16 1
- MSH6 1
- MTM1 1
- MTMR2 1
- MTPAP 1
- MYH3 1
- MYMK 1
- MYO7A 1
- MYT1 1
- NAA30 1
- NAGS 1
- NAT8L 2
- NDN 1
- NEGR1 1
- NFE2L1 1
- NGF 1
- NHEJ1 1
- NHLRC1 1
- NIN 1
- NLGN1 1
- NOP10 1
- NRXN2 1
- NTNG1 1
- NUP62 1
- ORC1 1
- ORC4 1
- ORC6 1
- PANK2 1
- PAX2 1
- PAX3 1
- PAX7 1
- PCBD1 1
- PCDH10 1
- PCDH15 1
- PCDH9 1
- PCLO 1
- PDE11A 1
- PDGFB 1
- PDSS2 1
- PHKA2 1
- PHKG2 1
- PIGF 2
- PIK3R1 1
- PINK1 1
- PIP5K1B 1
- PNP 1
- POC1A 1
- POLD1 1
- POLD2 1
- PON3 1
- POP1 2
- POU1F1 1
- PPID 1
- PPOX 1
- PRDM8 1
- PREPL 1
- PRF1 1
- PRICKLE1 1
- PRKDC 1
- PRKN 1
- PRKRA 1
- PRMT9 1
- PROSER1 1
- PRRX1 1
- PRX 1
- PSMC1 2
- PYGL 1
- RAB27A 2
- RAB40AL 1
- RALGAPB 1
- RANBP2 1
- RAPSN 1
- RASA1 2
- RAX 1
- RBM8A 1
- RBPJ 1
- RDH14 1
- RECQL4 1
- RET 1
- RFX6 1
- RIMS1 1
- RIN2 1
- RING1 1
- RNF135 2
- RNH1 2
- RPL11 1
- RPS19 1
- RPS28 1
- RUBCN 1
- SALL1 1
- SAMD9L 1
- SBDS 1
- SCN11A 1
- SCN9A 1
- SCO1 1
- SELENOI 1
- SELENON 1
- SF3B4 1
- SGCA 1
- SH3TC2 1
- SHROOM4 2
- SLC12A1 1
- SLC19A2 1
- SLC1A3 1
- SLC20A2 1
- SLC22A5 1
- SLC25A13 1
- SLC25A19 1
- SLC25A20 1
- SLC25A24 1
- SLC25A4 2
- SLC29A3 1
- SLC2A10 1
- SLC31A1 2
- SLC39A4 1
- SLC44A1 2
- SLC5A2 1
- SLC6A4 2
- SLC7A7 1
- SLC9A9 1
- SLX4 2
- SMCHD1 1
- SMG6 1
- SNRPA 1
- SNRPE 2
- SOBP 1
- SOST 1
- SOX8 1
- SP7 1
- SPAST 1
- SPEG 1
- SPG7 2
- SPINK5 1
- SPRTN 1
- SPTBN5 3
- SPTLC1 1
- SRPX2 1
- ST7 1
- STAC3 1
- STAT5B 1
- STK3 1
- STT3B 1
- STX11 1
- SYT14 1
- TDGF1 2
- TECR 1
- TFAP2A 1
- TFAP2B 1
- TFG 1
- TG 1
- TGFBR1 1
- TGFBR2 1
- THAP1 1
- TIMM8A 1
- TMEM260 1
- TMLHE 2
- TP63 1
- TPH2 1
- TPK1 1
- TPR 1
- TRAPPC6A 1
- TREM2 1
- TRHR 1
- TRIM32 1
- TRIM37 1
- TSEN34 1
- TSHR 1
- TTC21B 1
- TTR 1
- TUBA8 1
- TWNK 1
- TXNL4A 1
- UBE2U 1
- UBR4 2
- UCHL1 1
- UGT1A1 1
- UNC13D 1
- UQCRB 1
- UQCRC2 1
- UQCRQ 1
- UROC1 1
- VAMP1 1
- VANGL1 1
- VPS45 1
- WASHC3 1
- WASHC5 1
- WDR13 1
- WDR19 1
- WDR34 1
- WRAP53 1
- XIST 1
- XPNPEP3 1
- YWHAZ 1
- ZCCHC12 1
- ZDHHC15 3
- ZFP57 1
- ZNF41 2
- ZNF423 1
- ZNF507 1
- ZNF674 2
- ZNF804A 1
- ZNF81 3
- ZNHIT6 1
- DIP2B 2
- DMPK 2
Intellectual disability syndromic and non-syndromic
Gene: ADCY5 Amber List (moderate evidence)EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
I don't know
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.Created: 9 Dec 2021, 9:50 p.m. | Last Modified: 9 Dec 2021, 9:50 p.m.
Panel Version: 0.4358
Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.
Note also reports of a milder AR condition causing a movement disorder, where ID is not a feature, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647.Created: 23 Nov 2019, 2:20 a.m. | Last Modified: 9 Dec 2021, 9:52 p.m.
Panel Version: 0.4358
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Publications
Last Modified: 9 Dec 2021, 9:52 p.m.
Panel version: 0.4358
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Genetic Health Queensland
- Phenotypes
-
- Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
- OMIM
- 600293
- Clinvar variants
- Variants in ADCY5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM#606703 to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ADCY5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adcy5 has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ADCY5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adcy5 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM#606703
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adcy5 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADCY5 was added gene: ADCY5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ADCY5 was set to Unknown