- 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: TKT Amber List (moderate evidence)EnsemblGeneIds (GRCh38): ENSG00000163931
EnsemblGeneIds (GRCh37): ENSG00000163931
OMIM: 606781, Gene2Phenotype
TKT is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
I don't know
Two of the three reported families have the same homozygous variant, founder effect.Created: 1 Mar 2020, 2:35 a.m. | Last Modified: 1 Mar 2020, 2:35 a.m.
Panel Version: 0.2303
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, developmental delay, and congenital heart defects; OMIM #617044
Publications
Last Modified: 1 Mar 2020, 2:35 a.m.
Panel version: 0.2303
Chirag Patel (Genetic Health Queensland)
Green List (high evidence)
Boyle et al. (2016) reported 3 families with 5 affected individuals with proportionate short stature, developmental delay, and congenital heart defects. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division.Created: 10 Dec 2019, 5:13 a.m. | Last Modified: 10 Dec 2019, 5:13 a.m.
Panel Version: 0.1126
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, developmental delay, and congenital heart defects; OMIM #617044
Publications
- PMID: 27259054
Last Modified: 10 Dec 2019, 5:13 a.m.
Panel version: 0.1126
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Short stature, developmental delay, and congenital heart defects
- OMIM #617044
- OMIM
- 606781
- Clinvar variants
- Variants in TKT
- Penetrance
- None
- Publications
-
- PubMed: 27259054
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tkt has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tkt has been classified as Green List (High Evidence).
Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Chirag Patel (Genetic Health Queensland)Source Genetic Health Queensland was removed from TKT. Source Expert list was added to TKT. Mode of inheritance for gene TKT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TKT were changed from to Short stature, developmental delay, and congenital heart defects; OMIM #617044 Publications for gene TKT were changed from PubMed: 27259054 to PubMed: 27259054
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TKT was added gene: TKT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TKT was set to Unknown