- Panels
- Intellectual disability
- HIST1H1E
Genes in panel
- AAAS 3
- AARS 5
- AASS 3
- ABAT 6
- ABCA2 3
- ABCC9 10
- ABCD1 4
- ABCD4 2
- ABHD16A 3
- ABHD5 5
- ACACA 2
- ACAD9 3
- ACADM 4
- ACADS 3
- ACBD6 6
- ACER3 3
- ACO2 5
- ACOX1 4
- ACSL4 3
- ACTB 3
- ACTG1 3
- ACTL6A 5
- ACTL6B 5
- ACY1 3
- ADAM22 2
- ADAR 5
- ADARB1 3
- ADAT3 2
- ADD1 3
- ADD3 3
- ADGRG1 3
- ADGRL1 2
- ADK 4
- ADNP 3
- ADSL 3
- AFF2 5
- AFF3 4
- AFF4 6
- AGA 3
- AGO1 7
- AGO2 3
- AGTPBP1 2
- AHCY 5
- AHDC1 4
- AHI1 6
- AIFM1 2
- AIMP1 2
- AKT3 3
- ALDH18A1 3
- ALDH3A2 3
- ALDH4A1 3
- ALDH5A1 3
- ALDH7A1 5
- ALG1 3
- ALG11 5
- ALG12 3
- ALG13 2
- ALG3 4
- ALG6 4
- ALG8 4
- ALG9 7
- ALKBH8 7
- ALMS1 5
- AMER1 4
- AMPD2 5
- AMT 3
- ANK2 3
- ANK3 7
- ANKRD11 5
- ANKRD17 3
- ANO4 2
- AP1G1 3
- AP1S1 2
- AP1S2 4
- AP2M1 3
- AP3B1 4
- AP3B2 2
- AP4B1 3
- AP4E1 3
- AP4M1 3
- AP4S1 3
- APC2 2
- APOPT1 5
- ARCN1 2
- ARF1 5
- ARF3 4
- ARFGEF1 4
- ARFGEF2 3
- ARG1 3
- ARHGEF9 4
- ARID1A 5
- ARID1B 5
- ARID2 6
- ARL13B 6
- ARL6 3
- ARMC9 1
- ARSA 4
- ARSB 5
- ARSE 5
- ARV1 3
- ARX 4
- ASAH1 3
- ASH1L 6
- ASL 5
- ASNS 2
- ASPA 3
- ASPM 3
- ASS1 3
- ASXL1 4
- ASXL2 2
- ASXL3 3
- ATAD1 3
- ATAD3A 3
- ATG7 2
- ATIC 3
- ATM 5
- ATN1 5
- ATP13A2 4
- ATP1A1 2
- ATP1A2 5
- ATP1A3 7
- ATP2B1 4
- ATP6AP2 6
- ATP6V0A1 6
- ATP6V0A2 4
- ATP6V0C 5
- ATP6V1A 2
- ATP6V1B2 3
- ATP7A 3
- ATP8A2 5
- ATP9A 4
- ATR 2
- ATRX 4
- ATXN7L3 1
- AUH 3
- AUTS2 3
- B3GALNT2 2
- B3GLCT 4
- B4GALNT1 3
- B4GALT7 4
- B9D1 7
- B9D2 2
- BAP1 3
- BAZ2B 2
- BBS1 3
- BBS10 3
- BBS12 3
- BBS2 3
- BBS4 3
- BBS5 3
- BBS7 3
- BBS9 3
- BCAP31 3
- BCAS3 3
- BCKDHA 3
- BCKDHB 3
- BCKDK 2
- BCL11A 4
- BCL11B 2
- BCOR 3
- BCS1L 6
- BICRA 3
- BLM 5
- BLOC1S1 2
- BMP4 4
- BOLA3 2
- BORCS8 2
- BPTF 2
- BRAF 3
- BRAT1 5
- BRD4 4
- BRF1 2
- BRPF1 3
- BRSK2 2
- BRWD3 3
- BSCL2 6
- BTD 3
- BUB1 3
- BUB1B 3
- C12orf4 3
- C12orf57 2
- C12orf65 4
- C2CD3 7
- C2orf69 3
- C5orf42 4
- CA2 5
- CA8 3
- CACNA1A 6
- CACNA1B 3
- CACNA1C 6
- CACNA1D 5
- CACNA1E 2
- CACNA1G 4
- CACNA1I 4
- CACNA2D1 3
- CAD 2
- CAMK2A 5
- CAMK2B 1
- CAMK2D 1
- CAMK4 3
- CAMSAP1 1
- CAMTA1 3
- CAPN15 3
- CAPRIN1 8
- CARS 4
- CASK 3
- CASP2 5
- CBL 3
- CBS 4
- CC2D1A 3
- CC2D2A 3
- CCBE1 3
- CCDC22 2
- CCDC32 5
- CCDC47 2
- CCDC82 3
- CCDC88A 4
- CCDC88C 4
- CCND2 4
- CDC42 2
- CDC6 4
- CDH11 3
- CDH2 5
- CDK10 2
- CDK13 4
- CDK16 3
- CDK19 3
- CDK5RAP2 3
- CDK8 5
- CDKL5 3
- CDON 3
- CELF2 2
- CENPF 1
- CENPJ 4
- CEP104 5
- CEP120 3
- CEP135 2
- CEP152 3
- CEP290 3
- CEP41 3
- CEP55 3
- CEP57 3
- CEP83 2
- CEP85L 2
- CHAMP1 3
- CHD2 3
- CHD3 2
- CHD4 4
- CHD5 3
- CHD7 3
- CHD8 2
- CHKA 4
- CHKB 3
- CHMP1A 5
- CIAO1 2
- CIC 5
- CIT 2
- CKAP2L 3
- CLCN3 3
- CLCN4 6
- CLCN6 1
- CLDN11 2
- CLDN5 3
- CLEC16A 3
- CLN3 3
- CLN5 3
- CLN6 3
- CLN8 3
- CLP1 2
- CLPB 6
- CLTC 2
- CNKSR2 3
- CNNM2 1
- CNOT1 2
- CNOT2 2
- CNOT3 6
- CNOT9 2
- CNTNAP1 2
- CNTNAP2 3
- COASY 3
- COG1 3
- COG4 6
- COG5 7
- COG6 2
- COG7 3
- COG8 3
- COL4A1 3
- COL4A2 3
- COL4A3BP 4
- COLEC11 3
- COPB2 2
- COQ4 3
- COQ8A 4
- COX10 3
- COX11 3
- COX15 3
- CPE 4
- CPLX1 3
- CPS1 3
- CRADD 4
- CRB2 3
- CREBBP 3
- CRELD1 3
- CSDE1 2
- CSNK1G1 6
- CSNK2A1 4
- CSNK2B 3
- CSPP1 4
- CSTB 5
- CTBP1 3
- CTCF 3
- CTDP1 4
- CTNNA2 2
- CTNNB1 3
- CTNND1 2
- CTR9 4
- CTSA 5
- CTSD 3
- CTU2 4
- CUL3 4
- CUL4B 3
- CUX1 2
- CUX2 8
- CWC27 2
- CWF19L1 2
- CXorf56 6
- CYB5R3 2
- CYC1 4
- CYFIP2 2
- D2HGDH 6
- DAG1 7
- DAGLA 3
- DARS 5
- DARS2 3
- DBT 4
- DCAF17 3
- DCHS1 4
- DCPS 2
- DCX 3
- DDB1 2
- DDC 5
- DDHD2 3
- DDX11 4
- DDX17 3
- DDX23 5
- DDX3X 4
- DDX59 2
- DDX6 2
- DEAF1 4
- DEGS1 2
- DENND5B 2
- DEPDC5 4
- DHCR24 3
- DHCR7 3
- DHDDS 2
- DHFR 3
- DHPS 2
- DHRSX 7
- DHTKD1 3
- DHX30 5
- DHX37 5
- DHX9 2
- DIAPH1 1
- DIS3L2 4
- DKC1 4
- DLD 3
- DLG3 3
- DLG4 6
- DLL1 4
- DMD 5
- DMXL2 3
- DNAJC12 2
- DNAJC19 4
- DNM1 3
- DNM1L 3
- DNMT3A 4
- DNMT3B 3
- DOCK3 3
- DOCK4 2
- DOCK6 4
- DOCK7 3
- DOHH 2
- DOLK 4
- DPAGT1 3
- DPF2 5
- DPH1 2
- DPH5 3
- DPM1 3
- DPM2 3
- DPYD 3
- DPYS 3
- DPYSL5 3
- DTYMK 3
- DYM 3
- DYNC1H1 4
- DYRK1A 3
- EARS2 2
- EBF3 4
- EBP 5
- EDEM3 2
- EED 2
- EEF1A2 3
- EFTUD2 3
- EHMT1 3
- EIF2AK2 4
- EIF2AK3 3
- EIF2S3 4
- EIF3F 2
- EIF4A2 1
- EIF4A3 3
- EIF5A 3
- ELAC2 3
- ELOVL4 3
- ELP2 4
- EMC1 6
- EMC10 4
- EML1 1
- EMX2 6
- ENTPD1 6
- EP300 3
- EPG5 3
- ERBB4 2
- ERCC1 3
- ERCC2 3
- ERCC3 3
- ERCC5 3
- ERCC6 4
- ERCC6L2 4
- ERCC8 3
- ERI1 2
- ERLIN2 5
- ESAM 3
- ESCO2 3
- ETFA 4
- ETFB 3
- ETFDH 4
- ETHE1 3
- EXOSC3 3
- EXT2 6
- EXTL3 4
- EZH1 1
- EZH2 4
- FAM126A 4
- FAM177A1 1
- FAM20C 4
- FAM50A 3
- FAR1 6
- FARS2 3
- FARSA 3
- FAT4 4
- FBRSL1 3
- FBXL3 2
- FBXL4 6
- FBXO11 2
- FBXO28 3
- FBXO31 3
- FBXW11 3
- FBXW7 5
- FEM1B 3
- FGD1 3
- FGF12 3
- FH 3
- FIBP 3
- FIG4 4
- FILIP1 3
- FKRP 3
- FKTN 3
- FLVCR2 4
- FMN2 2
- FMR1 5
- FOLR1 4
- FOSL2 3
- FOXG1 3
- FOXP1 3
- FOXP2 2
- FOXRED1 3
- FRA10AC1 2
- FRMD5 1
- FRMPD4 7
- FTCD 5
- FTSJ1 3
- FUCA1 3
- FUK 5
- FUT8 2
- FZR1 2
- GABBR2 6
- GABRA1 4
- GABRA2 2
- GABRA5 2
- GABRB2 2
- GABRB3 4
- GABRD 2
- GABRG2 3
- GAD1 5
- GALC 4
- GALE 3
- GALNT2 1
- GALT 3
- GAMT 3
- GAN 3
- GATAD2B 3
- GATM 3
- GCDH 3
- GCH1 3
- GCSH 5
- GDI1 3
- GEMIN4 4
- GEMIN5 3
- GFAP 3
- GFER 4
- GFM1 4
- GJC2 4
- GK 4
- GLB1 3
- GLDC 3
- GLI2 3
- GLIS3 3
- GLRA2 5
- GLUL 5
- GLYCTK 1
- GM2A 4
- GMPPA 3
- GMPPB 6
- GNAI1 3
- GNAI2 4
- GNAO1 5
- GNAS 5
- GNB1 4
- GNB2 2
- GNB5 2
- GNPAT 3
- GNPTAB 5
- GNPTG 4
- GNS 3
- GPAA1 4
- GPC3 3
- GPC4 3
- GPT2 2
- GRIA1 7
- GRIA2 9
- GRIA3 3
- GRIA4 2
- GRID2 4
- GRIK2 6
- GRIN1 5
- GRIN2A 3
- GRIN2B 3
- GRIN2D 2
- GRM1 4
- GRM7 2
- GTF2E2 3
- GTF2H5 3
- GTF3C5 2
- GTPBP2 2
- GTPBP3 4
- GUSB 3
- H3F3A 4
- H3F3B 4
- HACE1 4
- HADHA 4
- HCCS 5
- HCFC1 3
- HCN1 4
- HDAC3 3
- HDAC4 6
- HDAC8 3
- HECTD4 2
- HECW2 1
- HEPACAM 3
- HERC1 2
- HERC2 4
- HESX1 2
- HEXA 3
- HEXB 3
- HGSNAT 3
- HIBCH 4
- HID1 4
- HIST1H1E 2
- HIST1H4C 5
- HIST1H4E 5
- HIVEP2 5
- HK1 7
- HLCS 4
- HMGB1 3
- HMGCL 6
- HNMT 5
- HNRNPH1 4
- HNRNPH2 2
- HNRNPK 3
- HNRNPR 3
- HNRNPU 4
- HOXA1 3
- HPD 2
- HPDL 3
- HPRT1 3
- HRAS 3
- HSD17B10 5
- HSD17B4 4
- HSPD1 4
- HTRA2 1
- HUWE1 5
- IARS 3
- IBA57 1
- IDH2 2
- IDS 3
- IDUA 3
- IER3IP1 5
- IFIH1 4
- IFT172 4
- IGF1 3
- IGF1R 4
- IKBKG 5
- IL1RAPL1 4
- IMPDH2 3
- INPP5E 4
- INPP5K 2
- INTS1 3
- INTS11 2
- IQSEC2 5
- IREB2 4
- IRF2BPL 2
- IRX5 2
- ISPD 4
- ITPA 2
- ITPR1 9
- ITSN1 2
- IVD 4
- JAM3 2
- JARID2 5
- KANSL1 3
- KARS 5
- KAT5 3
- KAT6A 3
- KAT6B 4
- KAT8 5
- KCNA2 4
- KCNA3 2
- KCNB1 4
- KCNB2 2
- KCNC1 4
- KCND2 2
- KCNH1 4
- KCNH5 6
- KCNJ10 3
- KCNJ11 4
- KCNJ6 6
- KCNK3 1
- KCNK9 4
- KCNMA1 8
- KCNN2 3
- KCNN3 4
- KCNQ2 3
- KCNQ3 8
- KCNQ5 3
- KCNT1 3
- KCNT2 3
- KCTD3 2
- KCTD7 3
- KDM1A 4
- KDM2B 4
- KDM3B 5
- KDM4B 3
- KDM5A 7
- KDM5B 9
- KDM5C 4
- KDM6A 3
- KDM6B 6
- KIAA0586 3
- KIAA1109 2
- KIDINS220 4
- KIF11 3
- KIF14 2
- KIF1A 4
- KIF1BP 8
- KIF21B 3
- KIF2A 6
- KIF4A 6
- KIF5A 4
- KIF5C 2
- KIF7 3
- KIRREL3 12
- KLF7 3
- KLHL20 3
- KLHL7 2
- KMT2A 3
- KMT2B 8
- KMT2C 4
- KMT2D 3
- KMT2E 4
- KMT5B 2
- KNL1 4
- KPTN 3
- KRAS 3
- L1CAM 3
- L2HGDH 3
- LAMA1 4
- LAMA2 3
- LAMB1 3
- LAMC3 5
- LAMP2 3
- LARGE1 5
- LARP7 3
- LARS 3
- LETM1 2
- LGI3 1
- LHX2 3
- LIAS 5
- LIG4 3
- LINC01578 3
- LINGO4 3
- LINS1 4
- LIPT1 3
- LMBRD2 3
- LMNB1 2
- LONP1 6
- LRP2 4
- LRPPRC 3
- LRRC7 3
- LSS 5
- LYRM7 3
- LZTR1 1
- MAB21L1 2
- MAB21L2 4
- MACF1 2
- MADD 4
- MAF 3
- MAGEL2 6
- MAN1B1 3
- MAN2B1 3
- MAN2C1 3
- MANBA 3
- MAOA 3
- MAP1B 5
- MAP2K1 3
- MAP2K2 3
- MAPK1 3
- MAPK8IP3 3
- MAPKAPK5 4
- MAPRE2 5
- MARK2 3
- MASP1 4
- MAST1 2
- MAST3 2
- MAST4 2
- MAT1A 3
- MBD5 2
- MBOAT7 2
- MBTPS2 5
- MCCC1 3
- MCCC2 3
- MCM3AP 3
- MCOLN1 3
- MCPH1 3
- MDH2 4
- MECP2 4
- MED11 2
- MED12 5
- MED13 4
- MED13L 2
- MED17 3
- MED23 5
- MED25 5
- MED27 3
- MEF2C 4
- MEIS2 3
- METTL23 2
- METTL5 5
- MFF 1
- MFSD2A 5
- MFSD8 4
- MGAT2 3
- MICU1 4
- MID1 3
- MINPP1 3
- MKKS 3
- MKS1 4
- MLC1 3
- MLYCD 3
- MMAA 3
- MMAB 3
- MMACHC 3
- MMADHC 3
- MN1 4
- MOCS1 3
- MOCS2 3
- MOGS 4
- MORC2 3
- MPDU1 3
- MPLKIP 3
- MPP5 4
- MRPS22 2
- MRPS34 1
- MSL2 5
- MSL3 7
- MSMO1 1
- MTFMT 2
- MTHFR 4
- MTHFS 3
- MTO1 4
- MTOR 6
- MTR 3
- MTRR 3
- MTSS1L 2
- MUT 4
- MVK 3
- MYCN 5
- MYH10 3
- MYO5A 3
- MYT1L 5
- NAA10 3
- NAA15 2
- NACC1 2
- NAGA 3
- NAGLU 3
- NALCN 3
- NANS 2
- NAPB 2
- NARS 3
- NBEA 2
- NCDN 3
- NCKAP1 3
- NDE1 3
- NDP 3
- NDST1 4
- NDUFA1 3
- NDUFA2 3
- NDUFS1 3
- NDUFS4 3
- NDUFS7 3
- NDUFS8 3
- NDUFV1 3
- NEDD4L 6
- NEMF 3
- NEU1 3
- NEUROD2 2
- NEUROG1 3
- NEXMIF 6
- NF1 3
- NFASC 1
- NFIA 4
- NFIX 3
- NFU1 4
- NGLY1 5
- NHS 3
- NIPBL 3
- NKAP 5
- NKX2-1 3
- NLGN3 2
- NONO 3
- NOVA2 2
- NPC1 4
- NPC2 4
- NPHP1 3
- NR2F1 4
- NR2F2 7
- NR4A2 4
- NRAS 3
- NRCAM 4
- NRROS 2
- NRXN1 3
- NSD1 3
- NSD2 2
- NSDHL 3
- NSRP1 2
- NSUN2 2
- NT5C2 3
- NTNG2 2
- NTRK1 5
- NTRK2 2
- NUBPL 4
- NUDT2 5
- NUP214 3
- NUS1 3
- OCLN 5
- OCRL 4
- ODC1 2
- OFD1 3
- OGDHL 3
- OGT 3
- OPA3 3
- OPHN1 3
- OSGEP 1
- OTC 4
- OTUD5 3
- OTUD6B 2
- OTUD7A 6
- OTX2 4
- OXR1 3
- P4HTM 2
- PABPC1 4
- PACS1 3
- PACS2 3
- PAFAH1B1 3
- PAH 3
- PAK1 3
- PAK3 4
- PAN2 5
- PARN 3
- PAX8 3
- PBX1 3
- PC 3
- PCCA 4
- PCCB 4
- PCDH12 4
- PCDH19 5
- PCDHGC4 1
- PCGF2 5
- PCNT 3
- PCYT2 2
- PDE4D 4
- PDGFRB 6
- PDHA1 3
- PDHB 3
- PDHX 4
- PDSS1 2
- PDSS2 3
- PDZD8 4
- PEPD 3
- PET100 7
- PEX1 3
- PEX10 3
- PEX11B 4
- PEX12 3
- PEX13 3
- PEX14 4
- PEX16 3
- PEX19 3
- PEX2 3
- PEX26 3
- PEX3 3
- PEX5 3
- PEX6 5
- PEX7 3
- PGAP1 3
- PGAP2 3
- PGAP3 3
- PGK1 3
- PGM2L1 3
- PGM3 3
- PHACTR1 5
- PHF21A 8
- PHF6 7
- PHF8 3
- PHGDH 3
- PHIP 3
- PI4K2A 3
- PI4KA 2
- PIBF1 3
- PIDD1 3
- PIGA 4
- PIGB 2
- PIGC 4
- PIGG 2
- PIGH 4
- PIGK 3
- PIGL 3
- PIGN 3
- PIGO 3
- PIGP 4
- PIGQ 5
- PIGS 2
- PIGT 5
- PIGU 2
- PIGV 3
- PIGW 3
- PIK3CA 5
- PIK3R2 3
- PIP5K1C 2
- PITRM1 2
- PLA2G6 3
- PLAA 4
- PLCB1 3
- PLEKHG2 4
- PLK1 4
- PLK4 4
- PLP1 3
- PLPBP 2
- PLXNA1 3
- PLXNB2 2
- PMM2 3
- PMPCB 2
- PNKP 3
- PNPLA6 3
- PNPT1 7
- POGZ 3
- POLA1 5
- POLG 4
- POLR1C 5
- POLR2A 2
- POLR3A 3
- POLR3B 5
- POLRMT 3
- POMGNT1 3
- POMGNT2 4
- POMT1 3
- POMT2 3
- PORCN 4
- POU3F2 3
- POU3F3 2
- PPFIBP1 3
- PPIL1 3
- PPM1D 3
- PPP1CB 4
- PPP1R12A 3
- PPP1R15B 2
- PPP1R21 5
- PPP1R3F 3
- PPP2CA 3
- PPP2R1A 3
- PPP2R5D 3
- PPP3CA 2
- PPT1 3
- PQBP1 3
- PRDM13 3
- PRICKLE2 5
- PRKAR1B 5
- PRMT7 4
- PRPF8 3
- PRPS1 4
- PRR12 2
- PRSS12 5
- PRUNE1 4
- PSAP 3
- PSMC3 3
- PSMC5 4
- PSMD12 4
- PSPH 4
- PTCH1 3
- PTCHD1 3
- PTDSS1 5
- PTEN 3
- PTF1A 4
- PTPN11 3
- PTPN23 4
- PTPN4 3
- PTRHD1 5
- PTS 4
- PUF60 6
- PUM1 4
- PURA 3
- PUS1 4
- PUS3 2
- PUS7 2
- PYCR1 5
- PYCR2 5
- QARS 6
- QDPR 4
- QRICH1 3
- RAB11A 5
- RAB11B 1
- RAB18 3
- RAB23 4
- RAB39B 4
- RAB3GAP1 3
- RAB3GAP2 3
- RAB5C 3
- RAC1 1
- RAC3 2
- RAD21 3
- RAF1 3
- RAI1 3
- RALA 2
- RALGAPA1 3
- RAP1B 4
- RARB 6
- RARS 4
- RARS2 3
- RBBP5 3
- RBBP8 2
- RBL2 3
- RBM10 2
- RBSN 3
- RELN 6
- RERE 3
- RFT1 3
- RFX3 3
- RFX4 3
- RFX7 3
- RHOBTB2 2
- RIT1 3
- RLIM 4
- RMND1 2
- RNASEH2A 3
- RNASEH2B 3
- RNASEH2C 3
- RNASET2 3
- RNF113A 6
- RNF125 2
- RNF13 5
- RNU4-2 5
- RNU7-1 3
- ROBO1 3
- ROGDI 3
- RORA 2
- RPGRIP1L 3
- RPIA 2
- RPL10 6
- RPS6KA3 5
- RRM2B 2
- RSRC1 2
- RTEL1 4
- RTN4IP1 3
- RTTN 6
- SAMD9 1
- SAMHD1 4
- SARS 3
- SARS2 2
- SATB1 5
- SATB2 3
- SBF1 2
- SC5D 3
- SCAF4 5
- SCAMP5 5
- SCAPER 3
- SCN1A 3
- SCN2A 3
- SCN3A 2
- SCN8A 6
- SCO2 3
- SCYL1 2
- SDCCAG8 3
- SDHA 3
- SDHAF1 4
- SEMA6B 2
- SEPHS1 2
- SEPSECS 1
- SERAC1 4
- SET 4
- SETBP1 5
- SETD1A 5
- SETD1B 5
- SETD2 2
- SETD5 4
- SFXN4 2
- SGPL1 1
- SGSH 3
- SHANK1 8
- SHANK2 2
- SHANK3 3
- SHH 3
- SHMT2 3
- SHOC2 3
- SHQ1 2
- SIAH1 2
- SIK1 4
- SIL1 3
- SIN3A 3
- SIN3B 4
- SIX3 3
- SKI 3
- SLC12A2 4
- SLC12A5 5
- SLC12A6 5
- SLC13A5 4
- SLC16A2 3
- SLC17A5 3
- SLC19A3 4
- SLC1A1 2
- SLC1A2 3
- SLC1A4 1
- SLC25A1 1
- SLC25A12 4
- SLC25A15 3
- SLC25A22 3
- SLC2A1 7
- SLC30A9 2
- SLC32A1 3
- SLC33A1 6
- SLC35A1 7
- SLC35A2 5
- SLC35C1 3
- SLC38A3 3
- SLC39A14 1
- SLC39A8 2
- SLC46A1 4
- SLC4A10 3
- SLC4A4 3
- SLC5A6 4
- SLC6A1 3
- SLC6A17 3
- SLC6A19 2
- SLC6A3 4
- SLC6A8 3
- SLC6A9 3
- SLC9A6 4
- SLX4 4
- SMAD4 6
- SMARCA2 6
- SMARCA4 6
- SMARCA5 4
- SMARCB1 4
- SMARCC2 4
- SMARCD1 6
- SMARCE1 4
- SMC1A 3
- SMC3 6
- SMG8 3
- SMOC1 3
- SMPD1 3
- SMPD4 2
- SMS 2
- SNAP25 2
- SNAP29 2
- SNF8 1
- SNIP1 4
- SNORD118 6
- SNRPB 4
- SNX14 6
- SNX27 4
- SON 4
- SOS1 3
- SOS2 1
- SOX10 3
- SOX11 5
- SOX2 4
- SOX4 3
- SOX5 2
- SOX6 2
- SPART 4
- SPATA5 4
- SPATA5L1 4
- SPECC1L 2
- SPEN 4
- SPG11 3
- SPOP 3
- SPR 5
- SPRED1 3
- SPRED2 3
- SPTAN1 4
- SPTBN1 1
- SPTBN2 4
- SPTBN4 3
- SRCAP 5
- SRD5A3 3
- SRPK3 3
- SRRM2 6
- SRSF1 2
- SSR4 2
- ST3GAL3 3
- ST3GAL5 6
- STAG1 6
- STAG2 2
- STAMBP 4
- STIL 3
- STRA6 3
- STRADA 3
- STT3A 7
- STX1A 1
- STX1B 4
- STXBP1 5
- SUCLG1 4
- SUFU 2
- SUMF1 4
- SUOX 3
- SUPT16H 3
- SURF1 3
- SUZ12 3
- SVBP 8
- SYN1 2
- SYNCRIP 6
- SYNGAP1 3
- SYNJ1 4
- SYP 3
- SYT1 6
- SZT2 5
- TAF1 5
- TAF2 6
- TAF4 5
- TAF6 2
- TAF8 2
- TANC2 7
- TANGO2 3
- TAOK1 3
- TASP1 3
- TAT 3
- TAZ 5
- TBC1D20 2
- TBC1D23 2
- TBC1D24 5
- TBC1D2B 4
- TBC1D7 5
- TBCD 4
- TBCE 3
- TBCK 3
- TBL1XR1 2
- TBR1 3
- TCEAL1 2
- TCF20 6
- TCF4 3
- TCF7L2 4
- TCN2 4
- TCTN2 3
- TCTN3 5
- TDP2 2
- TECPR2 6
- TEFM 3
- TELO2 2
- TENM3 3
- TET3 3
- TFE3 2
- TGIF1 4
- TH 4
- THOC2 4
- THOC6 2
- THRA 6
- THUMPD1 8
- TIAM1 3
- TIMM50 2
- TLK2 2
- TMCO1 3
- TMEM106B 3
- TMEM147 2
- TMEM165 3
- TMEM216 3
- TMEM222 2
- TMEM237 3
- TMEM240 4
- TMEM5 5
- TMEM63B 2
- TMEM63C 2
- TMEM67 3
- TMEM70 4
- TMEM94 2
- TMTC3 2
- TMX2 3
- TNPO2 6
- TNRC6B 3
- TOE1 2
- TOR1A 5
- TP73 3
- TPP1 3
- TPP2 2
- TRA2B 3
- TRAF7 3
- TRAIP 1
- TRAPPC12 2
- TRAPPC4 5
- TRAPPC6B 4
- TRAPPC9 3
- TREX1 3
- TRIM8 2
- TRIO 3
- TRIP12 4
- TRIT1 2
- TRMT1 5
- TRMT10A 4
- TRMT5 3
- TRNT1 3
- TRPM3 5
- TRRAP 2
- TSC1 3
- TSC2 3
- TSEN2 2
- TSEN34 3
- TSEN54 3
- TSFM 1
- TSHB 4
- TSPAN7 5
- TSPOAP1 2
- TTC19 4
- TTC37 4
- TTC5 4
- TTC8 3
- TTI1 2
- TTI2 3
- TUBA1A 3
- TUBB 4
- TUBB2A 5
- TUBB2B 3
- TUBB3 3
- TUBB4A 4
- TUBG1 1
- TUBGCP6 3
- TUSC3 3
- TWIST1 4
- U2AF2 5
- UBA5 3
- UBAP2L 3
- UBE2A 3
- UBE3A 4
- UBE3B 3
- UBE4A 3
- UBR1 3
- UBR7 6
- UBTF 4
- UFM1 3
- UFSP2 2
- UGDH 3
- UGP2 5
- UMPS 4
- UNC80 3
- UPF3B 4
- UROC1 5
- USP7 5
- USP9X 3
- VAMP2 2
- VARS 3
- VARS2 3
- VCP 3
- VLDLR 3
- VPS11 4
- VPS13B 3
- VPS41 3
- VPS4A 3
- VPS53 2
- VRK1 2
- WAC 3
- WARS2 2
- WASF1 2
- WDFY3 6
- WDPCP 4
- WDR26 2
- WDR37 2
- WDR4 4
- WDR45 3
- WDR45B 3
- WDR5 1
- WDR62 3
- WDR73 4
- WDR81 7
- WDR83OS 4
- WIPI2 4
- WNK3 4
- WNT1 6
- WWOX 4
- XRCC4 4
- XYLT1 5
- YIF1B 3
- YIPF5 3
- YWHAG 1
- YY1 3
- ZBTB18 6
- ZBTB20 4
- ZBTB24 2
- ZBTB47 2
- ZBTB7A 4
- ZC4H2 5
- ZDHHC9 3
- ZEB2 3
- ZFHX3 2
- ZFHX4 7
- ZFX 6
- ZFYVE26 3
- ZIC1 5
- ZIC2 3
- ZMIZ1 2
- ZMYM2 5
- ZMYM3 5
- ZMYND11 2
- ZMYND8 4
- ZNF142 2
- ZNF292 7
- ZNF335 4
- ZNF462 2
- ZNF526 5
- ZNF699 3
- ZNF711 3
- ZNFX1 2
- ZSWIM6 4
- ABI2 2
- ACADSB 2
- ACADVL 2
- ACAT1 3
- ACP5 2
- ACTA2 2
- ACVR1 5
- ADA 3
- ADAMTS10 2
- ADCY5 8
- ADPRHL2 2
- AGAP1 2
- AGMO 2
- AGPAT3 2
- AGPS 7
- AGXT 2
- AIMP2 3
- AIPL1 2
- AIRE 2
- AK2 2
- AKR1D1 2
- AKT1 4
- ALAD 2
- ALDOA 3
- ALG14 3
- ALPL 2
- ALX3 3
- ALX4 7
- ANKS1B 2
- ANO5 2
- ANTXR1 2
- AP1B1 3
- AP2S1 2
- ARHGAP35 2
- ARHGEF40 1
- ARL14EP 4
- ARMC4 3
- ASCC3 5
- ASTN1 3
- ATG4D 2
- ATOH1 1
- ATP11A 3
- ATP6AP1 2
- ATXN2L 2
- B3GALT6 2
- B4GALT1 5
- BAIAP2 1
- BCORL1 7
- BHLHE22 1
- BORCS5 1
- BRSK1 1
- BSN 1
- BSND 3
- C12orf66 1
- C16orf62 1
- C8orf37 4
- CACNA2D2 4
- CACNB4 5
- CAMK2G 5
- CAPZA2 1
- CARS2 3
- CASR 3
- CCDC186 1
- CCNK 1
- CCT3 1
- CCT6A 1
- CCT8 1
- CD96 5
- CDC42BPB 3
- CDK9 3
- CDKN1C 3
- CELF4 1
- CELSR3 1
- CEP295 2
- CEP63 4
- CHD1 2
- CHL1 3
- CHRM1 2
- CHST14 3
- CLCN2 4
- CNPY3 2
- COG3 2
- COPB1 2
- COQ9 3
- COX7B 3
- CPSF3 2
- CRBN 4
- CRMP1 1
- CRNKL1 2
- CSTF2 5
- CTC1 7
- CTNND2 1
- CYP27A1 5
- CYP2U1 7
- DALRD3 2
- DAP3 1
- DCC 8
- DDOST 6
- DDX39B 2
- DDX53 3
- DENND5A 3
- DHX32 2
- DLAT 3
- DLG1 3
- DLG2 3
- DOCK8 7
- DONSON 2
- DPH2 2
- DPM3 6
- DPYSL2 1
- DROSHA 3
- DYNC1I2 2
- EEF1B2 3
- EEF1D 2
- EEFSEC 1
- EFNB1 4
- EIPR1 1
- ELFN1 1
- EMG1 1
- EPB41L1 4
- EPB41L3 2
- EPHA7 2
- ERGIC3 2
- EXOC2 2
- EXOC7 2
- EXOSC8 2
- FAAH2 7
- FAM120C 3
- FANCA 3
- FANCC 3
- FANCD2 3
- FANCE 3
- FANCF 2
- FANCG 2
- FANCI 2
- FARSB 2
- FBXO22 2
- FDFT1 3
- FEM1C 2
- FGF13 2
- FGF14 5
- FGFR2 6
- FICD 2
- FLVCR1 7
- FOXP4 4
- FOXR1 2
- FRAS1 5
- FREM2 3
- FRRS1L 3
- FRY 4
- FRYL 1
- FTO 3
- GABBR1 1
- GATA6 4
- GBA 4
- GBA2 9
- GIGYF1 2
- GJB1 8
- GJB3 2
- GLI3 6
- GLS 2
- GMNN 1
- GNE 2
- GON4L 4
- GOT2 4
- GPATCH11 1
- GPSM2 7
- GSS 5
- GSX2 2
- GTF2I 1
- GTF3C3 4
- HADHB 2
- HARS 2
- HAX1 6
- HEATR3 2
- HEATR5B 2
- HINT1 3
- HIRA 2
- HIST1H4I 2
- HIST1H4J 3
- HNF1B 2
- HNRNPC 1
- HNRNPD 3
- HS2ST1 2
- HSPG2 4
- HTT 4
- IFT27 2
- IFT43 2
- IL1RAPL2 2
- INPP4A 7
- IPO8 2
- IQSEC1 4
- ISCA2 2
- ITFG2 2
- ITGA7 3
- ITGAV 1
- JAKMIP1 2
- JKAMP 1
- JMJD1C 2
- KATNB1 2
- KCNA1 5
- KCNC3 6
- KCND3 8
- KCNK4 3
- KDM2A 1
- KIAA0556 1
- KIF26A 1
- KIF5B 2
- KLHL15 3
- LAMB2 2
- LARS2 2
- LAS1L 5
- LDB1 1
- LINGO1 2
- LIPT2 1
- LMAN2L 2
- LMBRD1 3
- LMNA 5
- LMNB2 2
- LNPK 2
- LRP5 4
- LRRC32 4
- LRRC45 1
- LRRC8C 1
- LSM1 1
- LSM7 3
- LZTFL1 2
- MAG 1
- MAL 2
- MAP4K4 3
- MAPK10 6
- MED12L 2
- MED16 2
- MIR17HG 6
- MKL2 2
- MMGT1 3
- MPV17 5
- MRPL49 1
- NAA20 2
- NAGS 3
- NAV3 1
- NBAS 2
- NBN 3
- NCAPD2 2
- NCAPG2 2
- NDUFAF1 2
- NDUFAF2 5
- NDUFAF5 2
- NECAP1 2
- NFIB 3
- NHLRC2 1
- NHP2 3
- NOTCH3 1
- NPHP3 4
- NT5C3A 2
- NUP107 3
- NUP188 3
- NUP62 4
- NUP85 1
- NYX 2
- OPA1 1
- PAM16 2
- PARP6 2
- PAX1 2
- PCBP2 2
- PDCD6IP 2
- PDE10A 2
- PDE1B 2
- PDE6D 2
- PDP1 2
- PHF12 2
- PHF14 3
- PIK3C2A 3
- PISD 2
- PJA1 5
- PLA2G16 1
- PLAT 1
- PLXNA2 2
- PMPCA 2
- PNPLA8 1
- PNPO 2
- POMK 2
- POU1F1 3
- PPFIA3 1
- PPOX 5
- PPP2R2B 4
- PPP2R5C 1
- PRKACB 3
- PRKD1 5
- PRMT9 5
- PRODH 5
- PRRT2 7
- PSMB8 3
- PTBP1 2
- PTH1R 2
- PTHLH 2
- PTPA 2
- PTPMT1 1
- PTRH2 3
- RAB14 2
- RAB3A 2
- RAD51 5
- RAP1GDS1 4
- RAX 5
- RBPJ 2
- RHEB 4
- RIC1 2
- RMRP 3
- RNF220 2
- RNPC3 1
- RNU2-2P 2
- RNU4ATAC 3
- RNU5B-1 2
- RPS23 1
- RPS6KC1 1
- RREB1 2
- RSF1 1
- RSPRY1 2
- RUNX1T1 1
- RUSC2 2
- RYR2 2
- SACS 5
- SALL1 5
- SCN1B 8
- SEC31A 2
- SEL1L 2
- SF1 2
- SGSM3 2
- SHROOM4 4
- SLC12A9 1
- SLC25A26 2
- SLC25A38 2
- SLC26A2 2
- SLC27A4 2
- SLC2A2 2
- SLC35A3 2
- SLC35B2 2
- SLC35D1 2
- SLC39A13 2
- SLC45A1 3
- SLC4A1 2
- SLC4A11 2
- SLC5A5 3
- SLC5A7 2
- SLC9A7 2
- SLITRK2 2
- SMAD3 4
- SMARCA1 4
- SMARCD2 3
- SMG9 2
- SOD1 1
- SOX3 8
- SOX9 6
- SPAST 5
- SPOUT1 1
- SRGAP3 3
- SRP54 1
- SUCLA2 2
- SUPV3L1 1
- TAB2 6
- TAF13 1
- TAF1C 1
- TAOK2 2
- TARS2 1
- TBX1 6
- TCP1 1
- TDP1 10
- TERT 3
- TFG 4
- TGFB1 4
- THRB 4
- TKFC 2
- TKT 1
- TM2D3 1
- TMEM231 3
- TMLHE 4
- TNIK 2
- TNR 2
- TOMM70 1
- TRAK1 2
- TRAPPC10 4
- TRAPPC11 4
- TRAPPC2L 1
- TRPC5 2
- TSEN15 3
- TUBGCP2 2
- TUBGCP4 4
- TWIST2 5
- UBE3C 1
- UBR5 1
- UFC1 3
- UGGT1 2
- UNC13A 4
- UPB1 5
- UPF1 4
- USP27X 3
- VIPAS39 4
- VPS33A 1
- VPS33B 2
- VPS50 2
- VPS51 2
- WARS 1
- WASHC4 3
- WASHC5 5
- WBP4 1
- WDR11 6
- WDR47 1
- WSB2 1
- XPA 5
- YARS 4
- ZBTB11 2
- ZC3H14 5
- ZFP57 3
- ZNF148 5
- ZNF407 2
- ZNF668 2
- ZNF865 1
- ZNRF3 1
- A2ML1 2
- ABCB11 4
- ABCB7 5
- ABCC6 5
- ABCC8 0
- ABCG5 0
- ABHD12 3
- ACAN 4
- ACE2 3
- ACIN1 3
- ACOT9 3
- ACOX2 2
- ACSF3 3
- ADGRG4 3
- ADGRG6 4
- ADGRV1 3
- ADRA2B 3
- AFG3L2 7
- AFP 0
- AGK 3
- AGL 4
- AGPAT2 3
- AGT 0
- AGTR2 3
- AK1 3
- AKAP17A 4
- AKAP4 3
- AKAP6 1
- AKR1C2 3
- ALDH1A3 5
- ALDOB 4
- ALG2 4
- ALS2 5
- ALX1 4
- ANKH 5
- ANO10 4
- ANO3 3
- AP5Z1 3
- APTX 5
- AQP7 0
- AR 5
- ARHGAP31 1
- ARHGAP36 3
- ARHGAP6 3
- ARHGEF2 1
- ARHGEF4 3
- ARHGEF6 7
- ARIH1 3
- ARSF 3
- ASB12 3
- ASCL1 3
- ASMT 3
- ASMTL 3
- ASPH 0
- ATAD2B 1
- ATCAY 3
- ATL1 4
- ATP2A2 5
- ATP2B3 3
- ATP2C2 1
- ATP6V1B1 4
- ATP7B 3
- ATP8B1 5
- ATXN1 4
- ATXN10 4
- ATXN2 4
- ATXN3 4
- ATXN3L 3
- ATXN7 4
- AVP 0
- AVPR2 3
- AWAT2 3
- BDP1 3
- BEAN1 3
- BFSP2 4
- BGN 4
- BHLHA9 4
- BICD2 4
- BIN1 3
- BMP15 3
- BMPER 5
- BMPR1B 4
- BPIFB6 3
- BRCA1 5
- BRCA2 3
- BRIP1 3
- BTK 3
- C19orf12 5
- C1QA 1
- C1QC 1
- C20orf24 2
- C2orf71 4
- C3orf58 1
- C4orf26 4
- C9orf72 4
- CA5A 3
- CACNA1F 3
- CACNA1H 3
- CACNA1S 3
- CACNA2D3 0
- CACNG2 3
- CANT1 0
- CAP1 3
- CAPN10 3
- CCDC103 4
- CCDC114 5
- CCDC115 4
- CCDC174 2
- CCDC39 5
- CCDC40 4
- CCDC65 5
- CCDC78 3
- CCDC8 4
- CCNA2 3
- CCNB3 3
- CCNO 4
- CCT5 6
- CCT7 1
- CD99 3
- CDC40 2
- CDC45 3
- CDH15 7
- CDH23 4
- CDH3 4
- CDK5R1 0
- CDT1 5
- CFAP47 3
- CFP 3
- CHM 4
- CHMP3 1
- CHRDL1 4
- CHRNA2 4
- CHRNA4 5
- CHRNB2 5
- CHRNG 4
- CHST3 4
- CHSY1 4
- CHUK 4
- CIB2 4
- CISD2 6
- CLCN5 3
- CLCN7 4
- CLCNKA 2
- CLCNKB 3
- CLDN19 4
- CLIC2 4
- CLPP 0
- CMC4 3
- CMIP 2
- CNKSR1 3
- CNTN3 1
- CNTN4 0
- COA3 0
- COA5 3
- COL10A1 4
- COL11A1 4
- COL11A2 3
- COL18A1 4
- COL1A1 4
- COL1A2 0
- COL25A1 0
- COL2A1 4
- COL4A3 4
- COL4A4 4
- COL4A6 3
- COL6A1 4
- COL6A3 3
- COL9A1 4
- COL9A2 4
- COL9A3 4
- COLEC10 2
- COMP 4
- COQ2 4
- COQ5 4
- COX14 3
- COX6B1 6
- CP 3
- CPA6 4
- CPD 2
- CPXCR1 3
- CRB1 4
- CRLF2 4
- CRX 4
- CRYAA 4
- CRYBA1 4
- CRYBA4 3
- CRYBB1 4
- CRYBB2 4
- CRYBB3 4
- CRYGC 3
- CRYGD 4
- CSF1R 3
- CSF2RA 4
- CTGF 1
- CTNS 4
- CTPS2 3
- CTSF 6
- CTSK 4
- CTTNBP2 3
- CUL7 5
- CXorf58 3
- CYFIP1 1
- CYP1B1 4
- CYP7B1 6
- DAB1 0
- DACT1 1
- DCHS2 4
- DCTN1 3
- DDB2 4
- DDHD1 5
- DDR2 3
- DDX58 2
- DECR1 4
- DGKH 3
- DHODH 3
- DIAPH2 3
- DIP2B 6
- DLGAP2 0
- DLL3 4
- DLL4 4
- DMP1 4
- DMPK 6
- DNA2 4
- DNAAF3 4
- DNAAF4 4
- DNAH14 2
- DNAJC3 0
- DNM2 3
- DNMT1 3
- DOCK11 3
- DPF1 3
- DPF3 3
- DPP6 4
- DRD2 3
- DSCAM 0
- DSCR3 2
- DSPP 4
- DST 3
- DSTYK 4
- DVL1 4
- DVL3 3
- DYNC2H1 4
- ECEL1 4
- EDA 4
- EDNRA 4
- EDNRB 6
- EFHC1 3
- EGR2 3
- EIF2A 2
- EIF2AK1 2
- EIF4G1 3
- ELK1 4
- ELN 5
- ELOVL5 3
- EN2 0
- ENOX2 3
- ENPP1 4
- EOGT 4
- EOMES 3
- EPM2A 4
- EPPK1 3
- ERCC4 5
- ERF 4
- ERMARD 7
- ESX1 3
- EVC 5
- EVC2 4
- EXT1 3
- EYA1 5
- F5 0
- FA2H 7
- FAH 6
- FAM111A 6
- FAM111B 3
- FAM160B1 3
- FAM161A 4
- FAM20A 4
- FAM47B 3
- FAM58A 6
- FANCB 4
- FASN 3
- FBLN5 0
- FBN1 7
- FBN2 3
- FBP1 4
- FBXO25 3
- FBXO7 3
- FBXO8 1
- FBXW4 3
- FDXR 0
- FGD4 3
- FGF10 4
- FGF3 4
- FGFR1 8
- FGFR3 5
- FHL1 4
- FKBP14 4
- FKBP6 1
- FKBPL 3
- FLAD1 3
- FLNA 6
- FLNB 4
- FLT4 4
- FOXC1 4
- FOXC2 4
- FOXE1 4
- FOXE3 4
- FOXF1 4
- FOXN1 4
- FOXP3 5
- FREM1 5
- FRMD7 5
- FTL 7
- FUT2 1
- FXN 5
- FYCO1 4
- FZD3 0
- FZD6 4
- G6PC3 0
- GAA 4
- GAB3 3
- GABRG3 0
- GABRQ 4
- GALK1 4
- GALNS 6
- GAP43 1
- GAS8 4
- GATA2 4
- GATA4 4
- GBE1 0
- GCK 0
- GDAP1 3
- GDF5 4
- GDF6 4
- GHR 4
- GIGYF2 0
- GJA1 5
- GJA3 4
- GJA8 4
- GJB2 4
- GLE1 4
- GLMN 4
- GLRA1 1
- GLUD1 3
- GNAI3 4
- GNAL 3
- GORAB 3
- GOSR2 3
- GPHN 4
- GPR179 4
- GPRASP1 3
- GRB14 3
- GRHL3 4
- GRIP1 0
- GRM6 4
- GRN 3
- GSPT2 5
- GTPBP8 3
- GUCY2C 5
- GYS2 0
- HADH 7
- HARS2 0
- HAUS7 3
- HDAC6 3
- HIST1H4B 3
- HIST1H4D 2
- HIST1H4F 2
- HIST3H3 3
- HMGB3 1
- HMGCS2 4
- HMGXB4 1
- HNF4A 4
- HOXA13 4
- HOXC13 4
- HOXD10 0
- HOXD13 4
- HPGD 4
- HPS1 4
- HPSE2 4
- HR 4
- HS6ST2 3
- HSD3B7 4
- HSF4 4
- HYAL1 4
- HYDIN 4
- HYLS1 7
- IARS2 4
- IFITM5 4
- IFNAR2 3
- IFT122 4
- IFT140 3
- IFT80 4
- IGBP1 3
- IGF2 4
- IGHMBP2 3
- IGSF1 5
- IHH 4
- IL11RA 4
- IL3RA 4
- ILF2 0
- IMPAD1 4
- INF2 3
- INPPL1 4
- INSR 0
- INTS6 2
- INTS6L 4
- INTS8 1
- IQSEC3 2
- IRAK1 3
- IRF6 4
- ITCH 2
- ITGA3 3
- ITGA4 3
- ITGB6 1
- ITIH6 3
- JAG1 4
- JAGN1 4
- JAK3 4
- JPH3 2
- KANK1 3
- KATNAL2 0
- KBTBD13 4
- KCND1 3
- KCNE1 3
- KCNJ2 1
- KCNK12 3
- KCNQ1 4
- KCTD1 4
- KIF1B 2
- KIF1C 3
- KIF21A 0
- KIF22 4
- KIF26B 3
- KIT 4
- KLF1 4
- KLF8 3
- KLHL21 3
- KLHL34 3
- KLHL4 3
- KLHL40 4
- KRIT1 5
- LBR 5
- LDB3 4
- LEMD3 4
- LFNG 4
- LGI1 5
- LGI4 4
- LHFPL3 3
- LHX3 5
- LHX4 4
- LIMK1 3
- LITAF 3
- LMX1B 4
- LOXHD1 3
- LRAT 4
- LRP1 3
- LRP4 4
- LRRC6 5
- LRRK1 3
- LRRK2 3
- LTBP2 4
- LTBP3 4
- LYST 4
- MACC1 1
- MAFB 3
- MAGEA11 3
- MAGEB1 3
- MAGEB10 3
- MAGEB2 3
- MAGEC1 3
- MAGEC3 3
- MAGED1 3
- MAGEE2 3
- MAGI2 3
- MAGIX 3
- MAGT1 4
- MAOB 3
- MAP3K1 4
- MAP3K15 3
- MAP3K7 1
- MAP7D3 3
- MAPT 3
- MARS2 4
- MATN3 4
- MBNL3 3
- MC2R 4
- MCEE 5
- MCM9 0
- MECR 3
- MEGF10 3
- MEGF8 3
- MESP2 4
- MET 0
- METAP1 2
- MFRP 4
- MGAT5B 3
- MGP 6
- MIB1 4
- MITF 3
- MLH1 3
- MMP13 4
- MMP21 3
- MNX1 6
- MORC4 3
- MPDZ 3
- MPI 7
- MPZ 3
- MRAP 0
- MRE11 5
- MSX1 4
- MSX2 4
- MT-ATP6 3
- MTF1 4
- MTM1 4
- MTMR1 3
- MTMR14 1
- MTMR2 2
- MTMR8 3
- MT-ND1 2
- MT-ND4 4
- MTPAP 3
- MT-TK 4
- MTTP 1
- MT-TP 5
- MXRA5 3
- MYBPC1 3
- MYH3 3
- MYH6 4
- MYH8 4
- MYH9 4
- MYO1D 3
- MYO1G 3
- MYO1H 2
- MYO5B 4
- MYO7A 3
- MYT1 2
- NAA60 1
- NADK2 1
- NCAPH 1
- NDN 1
- NDRG1 2
- NDUFA10 1
- NDUFA11 3
- NDUFA12 3
- NDUFA9 1
- NDUFAF3 1
- NDUFS2 3
- NDUFS3 3
- NEB 1
- NECAB2 3
- NECTIN1 3
- NEFL 2
- NEK1 4
- NGF 1
- NHEJ1 4
- NHLRC1 2
- NIPA1 2
- NKX2-5 3
- NKX3-2 4
- NLGN4X 3
- NLRP3 4
- NMNAT1 4
- NODAL 4
- NOG 4
- NOP56 3
- NOTCH2 4
- NPHP4 4
- NPHS1 3
- NPHS2 3
- NPR2 4
- NPR3 0
- NR1I3 3
- NR5A1 4
- NRK 3
- NRXN2 5
- NRXN3 3
- NSF 4
- NTM 3
- NTNG1 0
- NXF4 4
- NXF5 4
- OBSL1 5
- ODF2L 3
- OR5M1 3
- ORC1 4
- ORC4 6
- ORC6 7
- OTOGL 4
- OTULIN 4
- OXCT1 4
- P2RY4 3
- P2RY8 4
- P3H1 3
- P4HB 4
- PABPC5 3
- PALB2 3
- PANK2 4
- PAPSS2 4
- PARK7 2
- PARP1 3
- PASD1 3
- PAX2 3
- PAX3 4
- PAX6 6
- PAX7 2
- PAX9 3
- PBRM1 3
- PCBD1 5
- PCDH10 3
- PCLO 1
- PCYT1A 3
- PDCD10 5
- PDE6G 4
- PDGFB 2
- PDYN 2
- PECR 3
- PGM1 4
- PGRMC1 4
- PHC1 3
- PHF10 3
- PHKA1 3
- PHKA2 0
- PHKG2 0
- PHOX2B 5
- PIEZO2 3
- PIGF 2
- PIGY 1
- PIK3C3 3
- PIK3R1 4
- PIN4 3
- PINK1 2
- PITX2 4
- PITX3 4
- PKD1L1 4
- PKHD1 4
- PLCE1 3
- PLCXD1 4
- PLEC 2
- PLEKHG1 1
- PLOD1 3
- PLOD2 4
- PLOD3 1
- PLXNB3 3
- PMP22 2
- PMS2 4
- PNKD 2
- PNP 3
- POC1A 4
- POC1B 4
- POGLUT1 0
- POLD1 4
- POLR1D 4
- PPA2 4
- PPP1R1B 0
- PRDM12 4
- PRDX4 3
- PREPL 3
- PRICKLE1 2
- PRICKLE3 3
- PRKAR1A 4
- PRKCG 2
- PRKN 2
- PRKRA 2
- PROP1 4
- PROX2 3
- PRRG1 3
- PRRG3 3
- PRSS56 4
- PRX 2
- PSAT1 5
- PSEN1 2
- PSMA7 3
- PSMD10 3
- PTPN21 3
- PUDP 4
- PYGL 3
- QKI 3
- RAB27A 3
- RAB40AL 3
- RABL6 3
- RAD50 5
- RAD51C 4
- RALGDS 3
- RANBP17 0
- RANBP2 5
- RAPGEF1 3
- RAPSN 5
- RASA1 5
- RBFOX1 0
- RBM28 3
- RBM8A 3
- RECQL4 3
- REEP1 2
- REEP2 2
- RENBP 3
- RET 3
- RETREG1 4
- RFX6 3
- RGN 3
- RGS7 3
- RIMS1 0
- RING1 1
- RIPK4 3
- RNF135 3
- RNF168 3
- RNF216 2
- RNU5A-1 1
- ROBO3 5
- ROR2 6
- RORB 1
- RPE65 4
- RPGR 3
- RPGRIP1 4
- RPS19 4
- RRAS 4
- RSPH1 4
- RSPH3 4
- RSPO4 4
- RTL9 3
- RTN2 2
- RUBCN 5
- RUNX2 4
- RYR1 3
- RYR3 3
- SALL4 4
- SAMD9L 2
- SBDS 4
- SBF2 2
- SCARB2 2
- SCARF2 4
- SCN11A 4
- SCN4A 5
- SCN9A 2
- SCO1 7
- SCRIB 3
- SEC23B 4
- SELENOI 0
- SEMA3E 1
- SETDB2 3
- SETX 2
- SF3B4 3
- SGCA 0
- SGCE 4
- SH3PXD2B 4
- SH3TC2 2
- SHOX 5
- SHROOM2 3
- SIGMAR1 2
- SIX1 4
- SIX5 4
- SKIV2L 4
- SLC20A2 2
- SLC22A5 7
- SLC25A13 0
- SLC25A19 4
- SLC25A20 6
- SLC25A24 0
- SLC25A53 3
- SLC25A6 4
- SLC26A9 3
- SLC2A10 3
- SLC31A1 3
- SLC35F1 2
- SLC52A3 5
- SLC5A2 0
- SLC6A4 0
- SLC6A5 5
- SLC7A7 0
- SLC9A9 3
- SMARCAL1 4
- SMARCC1 3
- SMARCD3 3
- SMCHD1 4
- SMO 3
- SNCA 3
- SNTG1 3
- SNX3 3
- SOBP 3
- SOX17 4
- SPAG1 4
- SPEG 4
- SPG21 3
- SPG7 4
- SPRTN 0
- SPRY3 4
- SPTLC1 0
- SPTLC2 4
- SREBF2 3
- SRPX2 5
- SRY 4
- STAB2 3
- STAR 4
- STARD8 3
- STAT1 5
- STAT5B 0
- STS 5
- STT3B 3
- STUB1 4
- STX11 0
- STX3 1
- SYNE1 5
- SYNE2 1
- SYT14 3
- SYTL4 3
- SYTL5 3
- TACO1 4
- TAF7L 3
- TARDBP 3
- TBC1D8B 3
- TBP 4
- TBX15 4
- TBX20 4
- TBX22 4
- TBX3 4
- TBX4 4
- TBX5 4
- TBXAS1 4
- TCEAL3 3
- TCF12 4
- TCOF1 3
- TCP10L2 3
- TCTN1 4
- TECR 3
- TEK 4
- TENM1 3
- TEPSIN 4
- TFAP2A 3
- TFAP2B 3
- TFB2M 1
- TGDS 3
- TGFB2 4
- TGFB3 4
- TGFBR1 4
- TGFBR2 4
- TGM6 3
- THAP1 5
- TIMM8A 5
- TINF2 5
- TK2 5
- TKTL1 3
- TLR8 3
- TM4SF20 3
- TMEM126B 4
- TMEM132E 3
- TMEM135 3
- TMEM260 0
- TMPRSS6 4
- TMPRSS9 1
- TNKS2 3
- TP63 4
- TPH2 0
- TPK1 0
- TPR 1
- TRAPPC2 4
- TRAPPC6A 1
- TREX2 3
- TRHR 0
- TRIM32 7
- TRIM37 6
- TRIP11 4
- TRIP13 1
- TRMT1L 1
- TRPM1 4
- TRPS1 5
- TRPV4 4
- TSC22D3 3
- TSHR 4
- TSPAN8 1
- TTBK2 3
- TTC7A 3
- TTN 1
- TTPA 3
- TTR 0
- TUBA8 6
- TUBAL3 3
- TUFM 4
- TXNL4A 4
- TYR 4
- TYRP1 4
- UBE2U 2
- UBR4 0
- UGT1A1 4
- UQCRB 4
- UQCRQ 4
- UROS 4
- USB1 4
- USP18 2
- UTP14A 3
- UVSSA 4
- VAMP1 8
- VAMP7 4
- VDR 3
- VIP 3
- VPS35 3
- VSX2 4
- WDR13 3
- WDR19 4
- WDR34 5
- WDR35 4
- WDR60 6
- WFS1 3
- WNT10B 4
- WNT3 4
- WNT4 3
- WNT5A 5
- WNT7A 4
- WRAP53 4
- WRN 0
- WT1 4
- WWC3 3
- XIAP 3
- XIST 0
- XK 3
- XKRX 3
- XPC 4
- XPNPEP3 4
- YAP1 3
- YBX3 1
- YWHAE 1
- YWHAZ 1
- ZBTB16 3
- ZBTB40 3
- ZCCHC12 3
- ZCCHC8 3
- ZDHHC15 5
- ZIC3 4
- ZMPSTE24 4
- ZMYM6 3
- ZMYND12 3
- ZNF41 3
- ZNF425 3
- ZNF592 3
- ZNF599 3
- ZNF674 3
- ZNF713 3
- ZNF81 3
- ZMYND15 1
STRs in panel
Prev
Next
Regions in panel
Prev
Next
-
5p15 terminal (Cri du chat syndrome) region Loss
ISCA-37390-Loss 1 -
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
ISCA-37392-Gain 1 -
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
ISCA-37392-Loss 1 -
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
ISCA-37393-Gain 1 -
2q37.3 terminal region (includes HDAC4) Loss
ISCA-37394-Loss 2 -
15q24 recurrent region (A-D) (includes SIN3A) Loss
ISCA-37396-Loss 2 -
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain
ISCA-37397-Gain 1 -
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
ISCA-37397-Loss 1 -
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
ISCA-37400-Gain 1 -
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
ISCA-37400-Loss 1 -
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss 1 -
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
ISCA-37404-Gain 2 -
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss 1 -
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss 1 -
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss 1 -
2p15p16.1 region (includes BCL11A) Loss
ISCA-37408-Loss 2 -
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37411-Loss 1 -
16p13.11 recurrent region (includes MYH11) Gain
ISCA-37415-Gain 2 -
16p13.11 recurrent region (includes MYH11) Loss
ISCA-37415-Loss 1 -
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
ISCA-37418-Gain 1 -
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37418-Loss 2 -
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss 1 -
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
ISCA-37421-Gain 1 -
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
ISCA-37421-Loss 1 -
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain 1 -
8p23.1 recurrent region (includes GATA4) Loss
ISCA-37423-Loss 1 -
10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss
ISCA-37424-Loss 1 -
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
ISCA-37425-Gain 1 -
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
ISCA-37425-Loss 1 -
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss 1 -
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
ISCA-37430-Gain 1 -
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss 1 -
17q11.2 recurrent region (includes NF1) Gain
ISCA-37431-Gain 1 -
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss 1 -
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain 1 -
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
ISCA-37433-Gain 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 1 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 1 -
Xq28 recurrent region (includes GDI1) Gain
ISCA-37439-Gain 1 -
2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 1 -
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss 1 -
3q29 recurrent region (includes DLG1) Loss
ISCA-37443-Loss 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
ISCA-37446-Gain 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 1 -
DLK1-MEG3 Intergenic Region Loss
ISCA-37447-Loss 1 -
Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss 1 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain 1 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss 1 -
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
ISCA-37486-Loss 1 -
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss 1 -
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain
ISCA-37494-Gain 2 -
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
ISCA-37494-Loss 2 -
2q11.2 recurrent region (includes ARID5A, TMEM127) Loss
ISCA-37495-Loss 1 -
15q25.2 recurrent region (LCR B-C, proximal) Loss
ISCA-37500-Loss 1 -
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-37501-Loss 2 -
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain 1 -
22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss
ISCA-46292-Loss 1 -
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss 1 -
16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss 1 -
Xp11.22 region (includes HUWE1) Gain
ISCA-46299-Gain 2 -
Xq28 region (includes MECP2) Gain
ISCA-46304-Gain 1 -
3q24 Region (includes ZIC1) Loss
ISCA-46553-Loss 1 -
7p22.1 region (includes ACTB) Loss
ISCA-46742-Loss 1 -
Xq25 region (includes STAG2) Gain
ISCA-46743-Gain 1 -
Xq25 region (includes STAG2) Loss
ISCA-46743-Loss 1 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss 1 -
11q13.2q13.4 recurrent region (includes SHANK2, FGFs) Loss
ISCA-37498-Loss 1 -
15q24 recurrent region (LCR A-LCR C) Loss
ISCA-46296-Loss 1 -
15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss
ISCA-46300-Loss 1
Intellectual disability
Gene: HIST1H1E Green List (high evidence)
HIST1H1E (histone cluster 1 H1 family member e)
EnsemblGeneIds (GRCh38): ENSG00000168298
EnsemblGeneIds (GRCh37): ENSG00000168298
OMIM: 142220, Gene2Phenotype
HIST1H1E is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000168298
EnsemblGeneIds (GRCh37): ENSG00000168298
OMIM: 142220, Gene2Phenotype
HIST1H1E is in 5 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for HIST1H1E is H1-4Created: 6 Sep 2019, 3:17 p.m. | Last Modified: 6 Sep 2019, 3:17 p.m.
Panel Version: 2.1022
Created: 6 Sep 2019, 3:17 p.m.
Last Modified: 6 Sep 2019, 3:17 p.m.
Panel version: 2.1022
Last Modified: 6 Sep 2019, 3:17 p.m.
Panel version: 2.1022
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Monoallelic MOI supported by PMID:28475857 and OMIM.Created: 18 Sep 2017, 7:51 a.m.
Comment on list classification: Updated rating from Red to Green after clinical agreement from Helen Brittain: although the ID phenotype is variable, it is present across the (>3 unrelated) reported cases.Created: 18 Sep 2017, 7:50 a.m.
Tatton-Brown et al (2017, PMID:28475857) reported 5 unrelated patients with mild to severe ID associated with variable somatic overgrowth, including increased height, weight, and/or head circumference. The authors reported 3 heterozygous truncating variants in HIST1H1E. The variants occured de novo in 4 families- parental DNA wasn't available from the 5th family.Created: 18 Sep 2017, 7:48 a.m.
Rahman syndrome (MIM:617537) is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference.Created: 18 Sep 2017, 7:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rahman syndrome, 617537; mild to severe intellectual disability
Publications
Created: 18 Sep 2017, 7:48 a.m.
Panel version: 1.400
Panel version: 1.400
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Other
- Phenotypes
-
- Rahman syndrome, 617537
- mild to severe intellectual disability
- Tags
- new-gene-name
- OMIM
- 142220
- Clinvar variants
- Variants in HIST1H1E
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
10 Feb 2023, Gel status: 3
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: HIST1H1E were set to 28475857
6 Sep 2019, Gel status: 3
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: HIST1H1E.
28 Sep 2018, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source Victorian Clinical Genetics Services was added to HIST1H1E.
12 Mar 2018, Gel status: 3
Panel promoted to version 2.0
Ellen McDonagh (Genomics England Curator)12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
18 Dec 2017, Gel status: 3
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Sep 2017, Gel status: 4
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for HIST1H1E was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
18 Sep 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)HIST1H1E was added to Intellectual disabilitypanel. Sources: Other
18 Sep 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)HIST1H1E was created by rfoulger