Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Developmental Disabilities PTEN group C0008073 CausalMutation 0.41 disgenet
Developmental Disabilities PTEN group C0008073 Biomarker 0.41 disgenet
Developmental Disabilities MECP2 group C0008073 GeneticVariation 0.38 disgenet
Developmental Disabilities MECP2 group C0008073 Biomarker 0.38 disgenet
Developmental Disabilities MECP2 group C0008073 AlteredExpression 0.38 disgenet
Developmental Disabilities SHANK3 group C0008073 GeneticVariation 0.32 disgenet
Developmental Disabilities SETD1A group C0008073 GeneticVariation 0.32 disgenet
Developmental Disabilities SHANK3 group C0008073 Biomarker 0.32 disgenet
Developmental Disabilities SETD1A group C0008073 Biomarker 0.32 disgenet
Developmental Disabilities SLC6A8 group C0008073 GeneticVariation 0.31 disgenet
Developmental Disabilities DOCK8 group C0008073 Biomarker 0.31 disgenet
Developmental Disabilities SLC6A8 group C0008073 Biomarker 0.31 disgenet
Developmental Disabilities STAMBP group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities KIF1A group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities SLC2A1 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities SLC4A4 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities CNTN4 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities MSL3 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities CHRNA4 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities KCNQ2 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities PMP22 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities AS3MT group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities KCNT1 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities WDFY4 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities TBCD group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities NANS group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities CBL group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities PNKP group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities NTRK2 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities LRP2 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities MAPK3 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities CHD4 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities DRD2 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities CAMKMT group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities ARFGAP1 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities SLC33A1 group C0008073 Biomarker 0.3 disgenet
Developmental Disabilities PTPN11 group C0008073 GeneticVariation 0.1 disgenet
Developmental Disabilities PTPN11 group C0008073 Biomarker 0.1 disgenet
Developmental Disabilities FMR1 group C0008073 GeneticVariation 0.09 disgenet
Developmental Disabilities FMR1 group C0008073 Biomarker 0.09 disgenet
Developmental Disabilities FGD1 group C0008073 GeneticVariation 0.05 disgenet
Developmental Disabilities CHD7 group C0008073 GeneticVariation 0.05 disgenet
Developmental Disabilities CREBBP group C0008073 GeneticVariation 0.05 disgenet
Developmental Disabilities CREBBP group C0008073 Biomarker 0.05 disgenet
Developmental Disabilities CHD7 group C0008073 Biomarker 0.05 disgenet
Developmental Disabilities TP63 group C0008073 GeneticVariation 0.05 disgenet
Developmental Disabilities KRAS group C0008073 GeneticVariation 0.04 disgenet
Developmental Disabilities PAX6 group C0008073 Biomarker 0.04 disgenet
Developmental Disabilities ELN group C0008073 GeneticVariation 0.04 disgenet
Developmental Disabilities FOXF1 group C0008073 Biomarker 0.04 disgenet
Developmental Disabilities NIPBL group C0008073 GeneticVariation 0.04 disgenet
Developmental Disabilities PITX2 group C0008073 AlteredExpression 0.04 disgenet
Developmental Disabilities PAX6 group C0008073 GeneticVariation 0.04 disgenet
Developmental Disabilities FOXF1 group C0008073 GeneticVariation 0.04 disgenet
Developmental Disabilities PITX2 group C0008073 GeneticVariation 0.04 disgenet
Developmental Disabilities KRAS group C0008073 Biomarker 0.04 disgenet
Developmental Disabilities FOXL2 group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities FOXL2 group C0008073 Biomarker 0.03 disgenet
Developmental Disabilities CDC42 group C0008073 Biomarker 0.03 disgenet
Developmental Disabilities RNU4ATAC group C0008073 Biomarker 0.03 disgenet
Developmental Disabilities CDC42 group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities RNU4ATAC group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities KRT5 group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities RAC1 group C0008073 Biomarker 0.03 disgenet
Developmental Disabilities ARSD group C0008073 AlteredExpression 0.03 disgenet
Developmental Disabilities KRT5 group C0008073 Biomarker 0.03 disgenet
Developmental Disabilities FOXP2 group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities KCNK9 group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities ARSD group C0008073 Biomarker 0.03 disgenet
Developmental Disabilities FOXP2 group C0008073 Biomarker 0.03 disgenet
Developmental Disabilities RAC1 group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities ACTB group C0008073 GeneticVariation 0.03 disgenet
Developmental Disabilities ZACN group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities ATRX group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PAG1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities ATRX group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities PIK3CA group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PLAGL1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PIK3CA group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities FOXC1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities RAD51 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities HTC2 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PAG1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities COG6 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities GLI1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PLAGL1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities MED13L group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities ZEB2 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities DYRK1A group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities GLI1 group C0008073 AlteredExpression 0.02 disgenet
Developmental Disabilities CILK1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities HIRA group C0008073 AlteredExpression 0.02 disgenet
Developmental Disabilities RPE65 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities IGF2 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities IGF2 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities ZEB2 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities CKAP4 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities COG6 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities HNF1B group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities CILK1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities RAD51 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities NRAS group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities SOX2 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities CLN3 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities HIRA group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities RAI1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities BBS2 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities ASXL1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities NOTCH3 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities TPP1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities NOTCH3 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities SNAP25 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities KCNQ3 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities FGFR2 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities PQBP1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities BBS2 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities DENR group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities DENR group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities MID1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities KCNQ3 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities PQBP1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities FGFR2 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities ZACN group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities TFE3 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities JAG1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities FOXG1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities FOLR1 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities IKBKG group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities MID1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities PUM1 group C0008073 GeneticVariation 0.02 orphanet , disgenet
Developmental Disabilities EIF4E group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PCBP4 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities MTOR group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities FRAXE group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities OPN1LW group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PTCH1 group C0008073 AlteredExpression 0.02 disgenet
Developmental Disabilities GNAS group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities TBX3 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities OPN1LW group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities GJB2 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities FRAXE group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities PCBP4 group C0008073 Biomarker 0.02 disgenet
Developmental Disabilities PUM1 group C0008073 Biomarker 0.02 orphanet , disgenet
Developmental Disabilities FOXG1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities NR0B1 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities UVRAG group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities TBX2 group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities EIF4E group C0008073 GeneticVariation 0.02 disgenet
Developmental Disabilities SPECC1L group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RPS23 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TRIM32 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities H1-4 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PROK2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KDM3A group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities KMT2B group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities CDK8 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TGM5 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TBK1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities RARA group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities SMC3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CNOT3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities LINC00299 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities TGIF1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities DPYD group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities DNM1L group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SYNGAP1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PIFO group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PRRT2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ERCC2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities MAPK1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PRDM13 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities GTF2H5 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities NR4A2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RET group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities SMCHD1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PKD1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities DLG2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities DOCK3 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SCN2A group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities MIPOL1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KCNJ6 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ATP2A2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PDC group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TBL1XR1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CDK13 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SETBP1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GTF2H4 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities VEGFA group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MYRF group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KIAA0586 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ARX group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CDKL5 group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities KCNH1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities SHH group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities AVP group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities BRAF group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ADRA2B group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PTPRG group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KITLG group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities AHR group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities ERCC3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities EGFR group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PIK3CB group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MASP1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities DHCR7 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RALA group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities KDM3B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities G6PC3 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MAP3K7 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities NDN group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GDF3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities BDNF group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities KMT5B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities MTA2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities EIF2B1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GLI2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities EDNRA group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GTF2IRD1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ZMYND11 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities NUFIP2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities FREM3 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GJA1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KMT2C group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities DGCR2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities MEIS1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GTF2H2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities POLR1C group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PDE4D group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KIAA0319 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities DSTYK group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PCLO group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities IL10 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ESCO2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KCNMA1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities MAP2K2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CADPS2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MYO18B group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities KIT group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities LINC01082 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities AHI1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities AGPAT4 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities STX1A group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SSTR4 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities FZD5 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities AKR1A1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RABL6 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities FGF10 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities FMR1-IT1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TMCO1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SMG9 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities POLR3K group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities IL6 group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities DNMT3A group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities LHX3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities MAST1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ADAM10 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SIX6 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MAP1LC3C group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PIGA group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CPXM2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities HCCS group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities CRMP1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PEG13 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KMT2D group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities EPHB2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PLXNA1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities EXT2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities HRAS group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities NAA10 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CPA6 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ARID1B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities RAB39B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities NOTCH1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities BABAM2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SMAD4 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities TBX4 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities FRAXA group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CASP9 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ROBO1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities CLIC2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities EHMT1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities GPR42 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities KDM5B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities WDR81 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities HIC1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GLI3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KCNQ1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities EMG1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities STIM1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities DIO3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TBX5 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities DAPK2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PUF60 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CFP group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ACVR1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PART1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RNF135 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities NR2F1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PDLIM1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities TYR group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities USP9X group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities CYP26C1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities AFF2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CETN3 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities UBA5 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ANOS1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities TRIM71 group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities GPT2 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CXCR6 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MTHFR group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities COLEC11 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities MAP2K7 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities GRIN2B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities NF1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities TWIST1 group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities PPT1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PMM2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RBM20 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities DACH1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SMPD4 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities CPT1A group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities VPS13B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities VCP group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities IGF1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities UROD group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PIK3CG group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities FGFR3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities HLTF group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities HNRNPR group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities CTNNB1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PRUNE1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities UBE3A group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities NRXN1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ADRA1A group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RAB23 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MT1B group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities UTRN group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MTTP group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities OFD1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities CSNK2A1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities POTEF group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities FAT1 group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities SRCAP group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KCNC3 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities EIF2B4 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ZBTB18 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities KMT2A group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities WT1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities SOX11 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ZBTB7A group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SLC6A3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities GJB6 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities KAT6B group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities BRS3 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities LPAR2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ATP2C1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ADSL group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities INPP5E group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities RELN group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities CSPP1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities COL9A3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ACKR3 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities APP group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities GTF2H3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PTPA group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities NRG1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities SET group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities SOX10 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities LONP1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CFDP1 group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities BMPER group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities EIF2S2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities DLK1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities POLD1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ZRANB3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PIK3CD group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities AKT3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities GTF2H1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities SMARCAL1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities GABRD group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities MIR34A group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ZBTB20 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities BCL6 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ITPR1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities AHDC1 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities FZD1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities KPNA7 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities PCDH12 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ARHGAP31 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities SMC1A group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities EIF2B2 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities RABL3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities GLYATL1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities PTGS2 group C0008073 AlteredExpression 0.01 disgenet
Developmental Disabilities SALL4 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TAF1 group C0008073 Biomarker 0.01 disgenet
Developmental Disabilities ATP1A3 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities CACNA1E group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities LINC01081 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities TCF4 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities SLC17A5 group C0008073 GeneticVariation 0.01 disgenet
Developmental Disabilities ZC4H2 NA C0008073 NA NA orphanet
click here to return to the previous page