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: PCBP2 Amber List (moderate evidence)
PCBP2 (poly(rC) binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000197111
EnsemblGeneIds (GRCh37): ENSG00000197111
OMIM: 601210, Gene2Phenotype
PCBP2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000197111
EnsemblGeneIds (GRCh37): ENSG00000197111
OMIM: 601210, Gene2Phenotype
PCBP2 is in 2 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
I don't know
Comment on list classification: As reviewed by Zornitza Stark, there were three unrelated cases reported with three different variants in PMID:38965372. One of them had borderline ID, one had mild ID and two had delayed motor and speech development.
This gene has been associated with relevant phenotype in Gene2Phenotype (with 'limited' rating on the DD panel), but not yet in OMIM.
Hence, this gene can only be rated amber with current evidence.Created: 13 Aug 2024, 3:03 p.m. | Last Modified: 13 Aug 2024, 3:03 p.m.
Panel Version: 7.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder, MONDO:0700092
Publications
Created: 13 Aug 2024, 2:55 p.m.
Last Modified: 13 Aug 2024, 2:55 p.m.
Panel version: 7.3
Last Modified: 13 Aug 2024, 2:55 p.m.
Panel version: 7.3
Zornitza Stark (Australian Genomics)
Green List (high evidence)
Three individuals reported with de novo variants and DD/ASD.
Sources: LiteratureCreated: 2 Aug 2024, 7:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder MONDO:0700092, PCBP2-related
Publications
Created: 2 Aug 2024, 7:33 a.m.
Panel version: 6.77
Panel version: 6.77
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- neurodevelopmental disorder, MONDO:0700092
- OMIM
- 601210
- Clinvar variants
- Variants in PCBP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Aug 2024, Gel status: 2
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pcbp2 has been classified as Amber List (Moderate Evidence).
13 Aug 2024, Gel status: 0
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
13 Aug 2024, Gel status: 0
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder MONDO:0700092, PCBP2-related to neurodevelopmental disorder, MONDO:0700092
2 Aug 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: PCBP2 was added gene: PCBP2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCBP2 were set to 38965372 Phenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related Review for gene: PCBP2 was set to GREEN