- Panels
- Intellectual disability
- SLC1A1
- 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
-
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: SLC1A1 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000106688
EnsemblGeneIds (GRCh37): ENSG00000106688
OMIM: 133550, Gene2Phenotype
SLC1A1 is in 1 panel
2 reviews
Sarah Leigh (Genomics England Curator)
Green List (high evidence)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in 2 unrelated cases (PMID 21123949), a SLC1A1 null mouse model with age-dependent chronic neurodegeneration (PMID 16311588), together with historic reports of intellectual disability associated with the phenotype (PMID 894411).Created: 29 Jun 2020, 4:35 p.m. | Last Modified: 29 Jun 2020, 4:35 p.m.
Panel Version: 3.110
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 29 Jun 2020, 4:34 p.m. | Last Modified: 29 Jun 2020, 4:34 p.m.
Panel Version: 3.109
Last Modified: 29 Jun 2020, 4:34 p.m.
Panel version: 3.1510
Zornitza Stark (Australian Genomics)
Green List (high evidence)
ID is part of the phenotype of this metabolic disorder.
Sources: Expert listCreated: 18 Feb 2020, 7:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- Dicarboxylic aminoaciduria, MIM#222730
Variants in this GENE are reported as part of current diagnostic practice
Panel version: 3.3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dicarboxylic aminoaciduria 222730
- OMIM
- 133550
- Clinvar variants
- Variants in SLC1A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: SLC1A1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to SLC1A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC1A1 were set to 21123949; 16311588; 16311588
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC1A1 were changed from Dicarboxylic aminoaciduria 222730 to Dicarboxylic aminoaciduria 222730
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: SLC1A1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC1A1 were changed from Dicarboxylic aminoaciduria 222730 to Dicarboxylic aminoaciduria 222730
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC1A1 were set to 21123949; 21123949
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria 222730
Created, Added New Source, Set mode of inheritance, Set publications
Zornitza Stark (Australian Genomics)gene: SLC1A1 was added gene: SLC1A1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730 Review for gene: SLC1A1 was set to GREEN gene: SLC1A1 was marked as current diagnostic