Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Abnormalities, Craniofacial TCOF1 group C0376634 GeneticVariation 0.35 disgenet
Abnormalities, Craniofacial TCOF1 group C0376634 Biomarker 0.35 disgenet
Abnormalities, Craniofacial SATB2 group C0376634 Biomarker 0.33 disgenet
Abnormalities, Craniofacial VSX1 group C0376634 Biomarker 0.32 disgenet
Abnormalities, Craniofacial VSX1 group C0376634 GeneticVariation 0.32 disgenet
Abnormalities, Craniofacial FGFR2 group C0376634 GeneticVariation 0.32 disgenet
Abnormalities, Craniofacial FGF8 group C0376634 Biomarker 0.32 disgenet
Abnormalities, Craniofacial LMNA group C0376634 Biomarker 0.32 disgenet
Abnormalities, Craniofacial TBX1 group C0376634 Biomarker 0.32 disgenet
Abnormalities, Craniofacial FGFR2 group C0376634 Biomarker 0.32 disgenet
Abnormalities, Craniofacial MSX2 group C0376634 AlteredExpression 0.32 disgenet
Abnormalities, Craniofacial MSX2 group C0376634 Biomarker 0.32 disgenet
Abnormalities, Craniofacial FGFR2 group C0376634 AlteredExpression 0.32 disgenet
Abnormalities, Craniofacial FGF8 group C0376634 GeneticVariation 0.32 disgenet
Abnormalities, Craniofacial TBX1 group C0376634 GeneticVariation 0.32 disgenet
Abnormalities, Craniofacial LTBP3 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial LTBP3 group C0376634 GeneticVariation 0.31 disgenet
Abnormalities, Craniofacial SOX9 group C0376634 GeneticVariation 0.31 disgenet
Abnormalities, Craniofacial TRPS1 group C0376634 GeneticVariation 0.31 disgenet
Abnormalities, Craniofacial NDST1 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial EYA1 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial PDGFRA group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial SOX9 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial HSPG2 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial TRPS1 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial RUNX2 group C0376634 GeneticVariation 0.31 disgenet
Abnormalities, Craniofacial MSX1 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial SIX1 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial DLX5 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial TP63 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial RUNX2 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial GTF2IRD1 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial GPC4 group C0376634 Biomarker 0.31 disgenet
Abnormalities, Craniofacial GTF2IRD1 group C0376634 GeneticVariation 0.31 disgenet
Abnormalities, Craniofacial RDH10 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TCF4 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SETBP1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ECE1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial B3GAT3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial UXS1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ACTB group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial IDH2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial KIF3A group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial COL2A1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ALX4 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial BNC2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial HOXB1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RHOA group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial MMP13 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TBCE group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial COL11A2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial CSNK1A1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RAI1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial HOXA3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial DLX1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial MASP1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial EGFR group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial GP1BB group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SMAD3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TFAP2A group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial UFD1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SALL4 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial UBE3A group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SKI group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TBX15 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial HYDIN2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial LPAR1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial JAG2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial STRA6 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ITGB1BP1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PBX4 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial NIPBL group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SIN3A group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial IRX5 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PHEX group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial B4GALT7 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SIM2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RYK group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial EP300 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ERCC6 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ZIC3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial BMPR1B group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FZD4 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial GNAQ group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial GSC group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RAX group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FGD1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SPRY2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial GPC6 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ZIC5 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PAX3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SURF1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial MSL3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ACTG1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial CHST14 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TGFBR2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FOXC2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial H4C3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ERF group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ALX1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FOXP2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TGFB2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial KANSL1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial MECP2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial LRP2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial HOXA1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FADD group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PTCH1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial MMP2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial THRB group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial IRF6 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ANKH group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SMAD4 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FOLR1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial MNT group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial CTNNB1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial GATA2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ANXA1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial KIAA0586 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SLC26A2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SMAD2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SRP68 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial UNC45B group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial EDN1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial HMX1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial NRXN1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PTEN group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PRKRA group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ZMPSTE24 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PITX2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial EDNRA group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SH3PXD2B group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial CECR group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial DNMT3B group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RAD23B group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial COLEC11 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial DNMT3A group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RAB39B group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RCAN1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SLC35D1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FAM83H group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SEC61A1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial LETM1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ATRX group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial HAPLN1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ATP6AP2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial DLX6 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FOXI1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial RAB40AL group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial ETS2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial DLX2 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial BMPR1A group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TMCO1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial DCAF7 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FGF3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TFAP2B group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TRIM37 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial APAF1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial SALL3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial COL11A1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial GABRB3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial CNTN4 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FMR1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial PAX6 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial DLL3 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial NOTCH1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial MBTPS1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial FGFR1 group C0376634 Biomarker 0.3 disgenet
Abnormalities, Craniofacial TP53 group C0376634 AlteredExpression 0.22 disgenet
Abnormalities, Craniofacial TP53 group C0376634 Biomarker 0.22 disgenet
Abnormalities, Craniofacial PHF21A group C0376634 GeneticVariation 0.07 disgenet
Abnormalities, Craniofacial PHF21A group C0376634 AlteredExpression 0.07 disgenet
Abnormalities, Craniofacial PHF21A group C0376634 Biomarker 0.07 disgenet
Abnormalities, Craniofacial NHLH1 group C0376634 Biomarker 0.02 disgenet
Abnormalities, Craniofacial SETD1B group C0376634 Biomarker 0.02 disgenet
Abnormalities, Craniofacial MN1 group C0376634 GeneticVariation 0.02 disgenet
Abnormalities, Craniofacial SETD1B group C0376634 GeneticVariation 0.02 disgenet
Abnormalities, Craniofacial CSGALNACT1 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial CHRD group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial KDM2B group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial AXIN2 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial DVL2 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial DCHS1 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial HPD group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial CDKAL1 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial GLI2 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial HYAL2 group C0376634 Biomarker 0.01 orphanet , disgenet
Abnormalities, Craniofacial ASXL3 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial EFNB1 group C0376634 AlteredExpression 0.01 disgenet
Abnormalities, Craniofacial SCFD1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial ALX3 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial DYRK1A group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial BARX2 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial CCN6 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial EIF4A3 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial CHD8 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial TBCA group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial TGFA group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial PTH group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial EPHX1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial ACAN group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial TWIST1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial CRY2 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial IDUA group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial UVRAG group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial GREB1L group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial GPATCH3 group C0376634 AlteredExpression 0.01 disgenet
Abnormalities, Craniofacial ZNF462 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial ESCO2 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial INTS1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial HLA-A group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial TASP1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial PSS group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial SP7 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial GTF2I group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial SHH group C0376634 AlteredExpression 0.01 disgenet
Abnormalities, Craniofacial FLI1 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial MED13L group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial AGO2 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial GLI3 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial ETS1 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial CYP2C9 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial PKD2 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial RPE65 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial TMEM87B group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial LINGO2 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial SPECC1L group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial CHDH group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial TMEM165 group C0376634 AlteredExpression 0.01 disgenet
Abnormalities, Craniofacial CHD7 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial DHCR7 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial DCPS group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial POLR1A group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial PAPPA group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial FBLN7 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial DLG1 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial CKAP4 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial RIT1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial BCL2 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial ANKRD11 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial HMGCS1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial CYP26B1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial MMACHC group C0376634 AlteredExpression 0.01 disgenet
Abnormalities, Craniofacial GLRA4 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial MIR876 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial SOX4 group C0376634 Biomarker 0.01 disgenet
Abnormalities, Craniofacial MIR873 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial HCFC1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial JAG1 group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial NFIA group C0376634 GeneticVariation 0.01 disgenet
Abnormalities, Craniofacial PACS1 NA C0376634 NA NA orphanet
Abnormalities, Craniofacial FBXL4 NA C0376634 NA NA orphanet
Abnormalities, Craniofacial KAT6A NA C0376634 NA NA orphanet
Abnormalities, Craniofacial CHD1 NA C0376634 NA NA orphanet
Abnormalities, Craniofacial HNRNPK NA C0376634 NA NA orphanet
Abnormalities, Craniofacial DPH1 NA C0376634 NA NA orphanet
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