- Panels
- Intellectual disability
- EIF1AX
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
- ASCC3 5
- 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
- ATN1 5
- ATP13A2 4
- ATP1A1 2
- ATP1A2 5
- ATP1A3 7
- ATP2B1 4
- ATP6AP2 7
- ATP6V0A1 6
- ATP6V0A2 4
- ATP6V0C 5
- ATP6V1A 2
- ATP6V1B2 3
- ATP7A 3
- ATP8A2 5
- ATP9A 4
- ATR 2
- ATRX 4
- ATXN7L3 2
- 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 5
- 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
- C12orf66 1
- C2CD3 7
- C2orf69 3
- C5orf42 4
- CA2 5
- CA8 3
- CACNA1A 6
- CACNA1B 3
- CACNA1C 6
- CACNA1D 6
- 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
- CCT6A 1
- CDC42 2
- CDC6 4
- CDH11 3
- CDH2 5
- CDK10 2
- CDK13 4
- CDK16 3
- CDK19 3
- CDK5RAP2 3
- CDK8 5
- CDK9 4
- 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
- CRNKL1 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
- DDX39B 3
- 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 4
- 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 4
- DTYMK 3
- DYM 3
- DYNC1H1 4
- DYRK1A 3
- EARS2 2
- EBF3 4
- EBP 5
- EDEM3 2
- EED 2
- EEF1A2 3
- EEF1D 2
- EEFSEC 2
- EFTUD2 3
- EHMT1 3
- EIF2AK2 4
- EIF2AK3 3
- EIF2S3 4
- EIF3F 2
- EIF4A2 2
- EIF4A3 3
- EIF5A 3
- ELAC2 3
- ELFN1 2
- ELOVL4 3
- ELP2 4
- EMC1 6
- EMC10 4
- EML1 1
- ENTPD1 6
- EP300 3
- EPB41L3 2
- 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
- EXOSC8 2
- EXT2 6
- EXTL3 4
- EZH1 1
- EZH2 4
- FAM126A 4
- FAM177A1 2
- FAM20C 4
- FAM50A 3
- FAR1 6
- FARS2 3
- FARSA 3
- FAT4 4
- FBRSL1 3
- FBXL3 2
- FBXL4 6
- FBXO11 2
- FBXO22 3
- FBXO28 3
- FBXO31 4
- FBXW11 3
- FBXW7 5
- FEM1B 4
- FGD1 3
- FGF12 3
- FH 3
- FIBP 3
- FIG4 4
- FILIP1 3
- FKRP 3
- FKTN 3
- FLVCR1 8
- 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 7
- GNB1 4
- GNB2 2
- GNB5 2
- GNPAT 3
- GNPTAB 5
- GNPTG 4
- GNS 3
- GPAA1 4
- GPATCH11 2
- 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
- GTF3C3 4
- GTF3C5 2
- GTPBP2 2
- GTPBP3 4
- GUSB 3
- H3F3A 4
- H3F3B 5
- 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
- HNRNPC 2
- 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
- INPP4A 8
- 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 5
- 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 5
- KDM3B 5
- KDM4B 3
- KDM5A 7
- KDM5B 10
- KDM5C 4
- KDM6A 3
- KDM6B 6
- KIAA0556 1
- 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
- KLF7 3
- KLHL20 4
- 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
- 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 4
- LMNB1 2
- LONP1 7
- LRP2 4
- LRPPRC 3
- LRRC7 4
- LSS 5
- LYRM7 3
- LZTR1 1
- MAB21L1 3
- MAB21L2 4
- MACF1 2
- MADD 4
- MAF 3
- MAG 2
- MAGEL2 6
- MAN1B1 3
- MAN2B1 3
- MAN2C1 3
- MANBA 3
- MAOA 3
- MAP1B 5
- MAP2K1 3
- MAP2K2 3
- MAP4K4 3
- MAPK1 3
- MAPK8IP3 3
- MAPKAPK5 4
- MAPRE2 5
- MARK2 4
- 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
- MED12L 3
- MED13 4
- MED13L 2
- MED16 3
- 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
- MRPL49 2
- 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
- NAA20 3
- NACC1 2
- NAGA 3
- NAGLU 3
- NALCN 3
- NANS 2
- NAPB 2
- NARS 3
- NAV3 2
- 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
- NHLRC2 2
- NHS 3
- NIPBL 3
- NKAP 5
- NKX2-1 3
- NLGN3 2
- NONO 3
- NOTCH3 2
- 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
- OPA1 2
- OPA3 3
- OPHN1 3
- OSGEP 1
- OTC 4
- OTUD5 3
- OTUD6B 2
- OTUD7A 6
- OTX2 4
- OXR1 3
- P4HTM 2
- PABPC1 5
- 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
- PNPLA8 2
- PNPT1 7
- POGZ 3
- POLA1 5
- POLG 4
- POLR1C 5
- POLR2A 2
- POLR3A 3
- POLR3B 5
- POLRMT 4
- POMGNT1 3
- POMGNT2 4
- POMT1 3
- POMT2 3
- PORCN 4
- POU3F2 3
- POU3F3 2
- PPFIBP1 3
- PPIL1 3
- PPM1D 3
- PPOX 6
- PPP1CB 4
- PPP1R12A 3
- PPP1R15B 2
- PPP1R21 5
- PPP1R3F 3
- PPP2CA 3
- PPP2R1A 4
- PPP2R2B 4
- PPP2R5C 2
- 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 5
- PSMD12 4
- PSPH 4
- PTBP1 3
- PTCH1 3
- PTCHD1 3
- PTDSS1 5
- PTEN 3
- PTF1A 4
- PTPN11 3
- PTPN23 4
- PTPN4 3
- PTRH2 4
- 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 3
- RIT1 3
- RLIM 4
- RMND1 2
- RNASEH2A 3
- RNASEH2B 3
- RNASEH2C 3
- RNASET2 3
- RNF113A 6
- RNF125 2
- RNF13 5
- RNU2-2P 4
- RNU4-2 5
- RNU5B-1 2
- RNU7-1 3
- ROBO1 3
- ROGDI 3
- RORA 2
- RPGRIP1L 3
- RPIA 2
- RPL10 6
- RPS6KA3 5
- RREB1 3
- RRM2B 2
- RSPRY1 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
- SEL1L 3
- SEMA6B 2
- SEPHS1 2
- SEPSECS 1
- SERAC1 4
- SET 4
- SETBP1 5
- SETD1A 5
- SETD1B 5
- SETD2 2
- SETD5 4
- SF1 3
- 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
- SLC5A7 2
- SLC6A1 3
- SLC6A17 3
- SLC6A19 2
- SLC6A3 4
- SLC6A8 3
- SLC6A9 3
- SLC9A6 4
- SLX4 4
- SMAD4 6
- SMARCA1 5
- 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 5
- SOD1 2
- SON 4
- SOS1 3
- SOS2 1
- SOX10 3
- SOX11 5
- SOX2 4
- SOX4 3
- SOX5 2
- SOX6 2
- SPART 4
- SPAST 5
- SPATA5 4
- SPATA5L1 4
- SPECC1L 2
- SPEN 4
- SPG11 3
- SPOP 3
- SPOUT1 2
- 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
- SUPV3L1 2
- SURF1 3
- SUZ12 3
- SVBP 8
- SYN1 2
- SYNCRIP 6
- SYNGAP1 3
- SYNJ1 4
- SYP 5
- SYT1 6
- SZT2 5
- TAF1 5
- TAF2 6
- TAF4 5
- TAF6 2
- TAF8 2
- TANC2 7
- TANGO2 3
- TAOK1 3
- TAOK2 3
- TARS2 2
- 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
- TFG 5
- 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 3
- TMEM237 3
- TMEM240 4
- TMEM5 5
- TMEM63B 4
- TMEM63C 2
- TMEM67 3
- TMEM70 4
- TMEM94 2
- TMTC3 2
- TMX2 3
- TNPO2 6
- TNR 2
- 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
- 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
- TUBGCP2 2
- TUBGCP6 3
- TUSC3 3
- TWIST1 4
- U2AF2 5
- UBA5 3
- UBAP2L 3
- UBE2A 3
- UBE3A 4
- UBE3B 3
- UBE4A 3
- UBR1 3
- UBR5 2
- UBR7 6
- UBTF 4
- UFM1 3
- UFSP2 2
- UGDH 3
- UGGT1 4
- UGP2 5
- UMPS 4
- UNC13A 6
- UNC80 3
- UPF1 5
- UPF3B 4
- UROC1 5
- USP7 5
- USP9X 3
- VAMP2 2
- VARS 3
- VARS2 3
- VCP 3
- VLDLR 3
- VPS11 4
- VPS13B 3
- VPS33A 2
- VPS41 3
- VPS4A 3
- VPS53 2
- VRK1 2
- WAC 3
- WARS 3
- WARS2 2
- WASF1 2
- WBP4 2
- WDFY3 6
- WDPCP 4
- WDR26 2
- WDR37 2
- WDR4 4
- WDR45 3
- WDR45B 3
- WDR47 2
- 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 4
- AP2S1 2
- ARHGAP35 2
- ARHGEF40 1
- ARL14EP 4
- ARMC4 3
- ASTN1 3
- ATG12 1
- ATG4D 2
- ATOH1 1
- ATP11A 3
- ATP2B2 2
- ATP6AP1 2
- ATXN2L 2
- B3GALT6 2
- B4GALT1 5
- BAIAP2 1
- BCORL1 7
- BHLHE22 1
- BORCS5 1
- BRF2 1
- BRSK1 1
- BSN 1
- BSND 3
- C16orf62 2
- C8orf37 4
- CACNA2D2 4
- CACNB4 5
- CAMK2G 5
- CAPZA2 1
- CARS2 3
- CASR 3
- CCDC186 1
- CCNK 1
- CCT3 1
- CCT8 1
- CD96 5
- CDC42BPB 3
- CDK20 1
- CDKN1C 3
- CELF4 2
- CELSR3 1
- CEP295 2
- CEP63 4
- CHD1 2
- CHL1 3
- CHRM1 2
- CHST14 3
- CLCN2 4
- CNPY3 2
- COG3 2
- COPB1 2
- COQ5 5
- COQ9 3
- COX7B 3
- CPSF3 2
- CRBN 4
- CRMP1 1
- CSTF2 5
- CTC1 7
- CTNND2 1
- CYP27A1 5
- CYP2U1 7
- DALRD3 2
- DAP3 1
- DCC 8
- DDOST 6
- DDX53 3
- DENND5A 3
- DHX32 2
- DLAT 3
- DLG1 3
- DLG2 3
- DOCK8 7
- DONSON 2
- DPH2 3
- DPM3 6
- DPYSL2 1
- DROSHA 3
- DYNC1I2 2
- EEF1B2 3
- EFNB1 4
- EIPR1 1
- EMG1 1
- EMX2 7
- EPB41L1 4
- EPHA7 2
- ERGIC3 2
- EXOC2 2
- EXOC7 2
- FAAH2 7
- FAM120C 3
- FANCA 3
- FANCC 3
- FANCD2 3
- FANCE 3
- FANCF 2
- FANCG 2
- FANCI 2
- FARSB 2
- FDFT1 3
- FEM1C 2
- FGF13 2
- FGF14 5
- FGFR2 6
- FICD 2
- FOXP4 4
- FOXR1 2
- FRAS1 5
- FREM2 3
- FRRS1L 3
- FRY 4
- FRYL 2
- FSD1L 1
- FTO 3
- GABBR1 1
- GABRA3 1
- GATA6 4
- GBA 4
- GBA2 9
- GIGYF1 3
- GJB1 8
- GJB3 2
- GLI3 6
- GLS 2
- GMNN 1
- GNE 2
- GON4L 4
- GOT2 4
- GPSM2 7
- GSS 5
- GSX2 2
- GTF2I 1
- GTPBP1 1
- HADHB 2
- HARS 2
- HAX1 6
- HCN2 1
- HEATR3 2
- HEATR5B 2
- HINT1 3
- HIRA 2
- HIST1H4I 2
- HIST1H4J 3
- HNF1B 2
- HNRNPD 3
- HS2ST1 2
- HS6ST2 4
- HSPG2 4
- HTT 4
- IFT27 2
- IFT43 2
- IL1RAPL2 2
- 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
- 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 5
- LRRC45 1
- LRRC8C 1
- LSM1 1
- LSM7 3
- LZTFL1 2
- MAL 2
- MAPK10 6
- MIR17HG 6
- MKL2 2
- MMGT1 3
- MPV17 5
- MYCBP2 2
- NAGS 3
- NBAS 2
- NBN 3
- NCAPD2 2
- NCAPG2 2
- NDUFAF1 2
- NDUFAF2 5
- NDUFAF5 2
- NECAP1 2
- NFIB 3
- NHP2 3
- NPHP3 4
- NPTN 1
- NRDC 1
- NT5C3A 2
- NUP107 3
- NUP188 3
- NUP62 4
- NUP85 1
- NYX 2
- OGDH 1
- OLA1 1
- PAM16 2
- PARP6 2
- PAX1 2
- PCBP2 2
- PDCD6IP 2
- PDE10A 2
- PDE1B 2
- PDE6D 2
- PDP1 2
- PDS5A 1
- PGBD5 2
- PHF12 2
- PHF14 3
- PHF5A 1
- PIK3C2A 3
- PISD 2
- PJA1 5
- PLA2G16 1
- PLAT 1
- PLXNA2 2
- PMPCA 2
- PNPO 2
- POMK 2
- POU1F1 3
- PPFIA3 1
- PRKACB 3
- PRKD1 5
- PRMT9 5
- PRODH 5
- PRRT2 8
- PSMB8 3
- PTH1R 2
- PTHLH 2
- PTPA 2
- PTPMT1 1
- PTPN1 1
- RAB14 2
- RAB3A 2
- RAD51 5
- RAP1GDS1 4
- RAX 5
- RBPJ 2
- RDH11 1
- RHEB 4
- RIC1 2
- RMRP 3
- RNF2 1
- RNF220 2
- RNPC3 1
- RNU4ATAC 4
- RNU6ATAC 1
- RPS23 1
- RPS6KC1 1
- RSF1 1
- RUNX1T1 1
- RUSC2 2
- RYR2 2
- SACS 5
- SALL1 5
- SCN1B 8
- SCNM1 1
- SEC31A 2
- SF3B1 2
- SGSM3 2
- SHROOM4 5
- SKOR2 1
- 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
- SLC9A7 2
- SLITRK2 2
- SMAD3 4
- SMARCD2 3
- SMG9 2
- SNW1 1
- SOX3 8
- SOX9 6
- SP9 1
- SRGAP3 3
- SRP54 1
- SUCLA2 2
- TAB2 6
- TAF13 1
- TAF1C 1
- TBX1 6
- TCP1 1
- TDP1 10
- TERT 3
- TGFB1 4
- THRB 4
- TKFC 2
- TKT 1
- TM2D3 1
- TMEM231 3
- TMLHE 4
- TNIK 2
- TOMM70 1
- TRAK1 2
- TRAPPC10 4
- TRAPPC11 4
- TRAPPC2L 2
- TRPC5 2
- TSEN15 3
- TSPAN7 6
- TUBGCP4 4
- TWIST2 5
- TYW1 1
- UBE3C 1
- UFC1 3
- UNC79 1
- UPB1 5
- USP27X 3
- USP34 2
- VIPAS39 4
- VPS33B 2
- VPS36 1
- VPS50 3
- VPS51 3
- WAPL 1
- WASHC4 3
- WASHC5 5
- WDR11 6
- WDR83 1
- WDR91 1
- WSB2 2
- XPA 6
- YARS 4
- ZBTB11 2
- ZC3H14 5
- ZFP57 3
- ZNF148 5
- ZNF407 2
- ZNF668 3
- ZNF865 1
- ZNRF3 1
- ZSCAN10 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
- ATM 5
- 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
- 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
- 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
- KIRREL3 12
- KIT 4
- KLF1 4
- KLF8 3
- KLHL21 3
- KLHL34 3
- KLHL4 3
- KLHL40 4
- KRIT1 5
- LAMC3 6
- 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
- PDS5B 1
- 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
- EIF1AX 1
- GPN2 1
- 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 -
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 -
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 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-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 -
11q13.2q13.4 recurrent region (includes SHANK2, FGFs) Loss
ISCA-37498-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 -
15q24 recurrent region (LCR A-LCR C) Loss
ISCA-46296-Loss 1 -
16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss 1 -
Xp11.22 region (includes HUWE1) Gain
ISCA-46299-Gain 2 -
15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss
ISCA-46300-Loss 1 -
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 -
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 -
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
Intellectual disability
Gene: EIF1AX No list
EIF1AX (eukaryotic translation initiation factor 1A, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000173674
EnsemblGeneIds (GRCh37): ENSG00000173674
OMIM: 300186, Gene2Phenotype
EIF1AX is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000173674
EnsemblGeneIds (GRCh37): ENSG00000173674
OMIM: 300186, Gene2Phenotype
EIF1AX is in 1 panel
1 review
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)
Green List (high evidence)
PMID: 42337333- describes four de novo hemizygous EIF1AX variants (comprising three missense and one splice variant) in four male individuals exhibiting variable neurodevelopmental disorders, including developmental and language delays, autistic behavioral problems, and facial dysmorphisms.
Functional studies using Drosophila models supported a LOF effect for (Lys64Glu) and p.(Asp90Gly) whilst no significant effect was seen for p.(Asn17Asp). Minigene analysis for the c.204 G > C showed aberrant mRNA splicing and a LOF allele.
Sources: LiteratureCreated: 4 Aug 2026, 1:33 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
intellectual disability
Publications
- PMID: 42337333
Created: 4 Aug 2026, 1:33 p.m.
Panel version: 10.85
Panel version: 10.85
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Phenotypes
-
- intellectual disability
- OMIM
- 300186
- Clinvar variants
- Variants in EIF1AX
- Penetrance
- None
- Publications
-
- PMID: 42337333
- Panels with this gene
History Filter Activity
4 Aug 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)gene: EIF1AX was added gene: EIF1AX was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EIF1AX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EIF1AX were set to PMID: 42337333 Phenotypes for gene: EIF1AX were set to intellectual disability Review for gene: EIF1AX was set to GREEN