Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndactyly HOXD13 disease C0039075 CausalMutation 0.5 orphanet , disgenet
Syndactyly HOXD13 disease C0039075 GeneticVariation 0.5 orphanet , disgenet
Syndactyly HOXD13 disease C0039075 Biomarker 0.5 orphanet , disgenet
Syndactyly HOXD13 disease C0039075 AlteredExpression 0.5 orphanet , disgenet
Syndactyly LRP4 disease C0039075 Biomarker 0.46 disgenet
Syndactyly LRP4 disease C0039075 GeneticVariation 0.46 disgenet
Syndactyly JAG2 disease C0039075 Biomarker 0.3 disgenet
Syndactyly TFAP2A disease C0039075 Biomarker 0.3 disgenet
Syndactyly FZD4 disease C0039075 Biomarker 0.3 disgenet
Syndactyly ABL1 disease C0039075 Biomarker 0.3 disgenet
Syndactyly NEDD4L disease C0039075 Biomarker 0.3 disgenet
Syndactyly FAM92A disease C0039075 Biomarker 0.3 disgenet
Syndactyly CACNA1C disease C0039075 GeneticVariation 0.14 disgenet
Syndactyly CACNA1C disease C0039075 Biomarker 0.14 disgenet
Syndactyly PIK3CA disease C0039075 GeneticVariation 0.12 disgenet
Syndactyly PIK3CA disease C0039075 Biomarker 0.12 disgenet
Syndactyly FGFR1 disease C0039075 GeneticVariation 0.12 disgenet
Syndactyly FGFR1 disease C0039075 Biomarker 0.12 disgenet
Syndactyly TP63 disease C0039075 Biomarker 0.11 disgenet
Syndactyly CREBBP disease C0039075 Biomarker 0.11 disgenet
Syndactyly TP63 disease C0039075 GeneticVariation 0.11 disgenet
Syndactyly ROR2 disease C0039075 GeneticVariation 0.11 disgenet
Syndactyly LMBR1 disease C0039075 GeneticVariation 0.11 orphanet , disgenet
Syndactyly LMBR1 disease C0039075 Biomarker 0.11 orphanet , disgenet
Syndactyly ROR2 disease C0039075 Biomarker 0.11 disgenet
Syndactyly B3GLCT disease C0039075 Biomarker 0.1 disgenet
Syndactyly PRKD1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CPLANE1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly FBN1 disease C0039075 CausalMutation 0.1 disgenet
Syndactyly BCOR disease C0039075 Biomarker 0.1 disgenet
Syndactyly MYCN disease C0039075 CausalMutation 0.1 disgenet
Syndactyly H19 disease C0039075 Biomarker 0.1 disgenet
Syndactyly NAA10 disease C0039075 Biomarker 0.1 disgenet
Syndactyly TULP1 disease C0039075 CausalMutation 0.1 disgenet
Syndactyly ZSWIM6 disease C0039075 Biomarker 0.1 disgenet
Syndactyly IFT43 disease C0039075 Biomarker 0.1 disgenet
Syndactyly BBS1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CDH3 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CCDC28B disease C0039075 Biomarker 0.1 disgenet
Syndactyly NOG disease C0039075 GeneticVariation 0.1 disgenet
Syndactyly PTDSS1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly YY1AP1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly ESCO2 disease C0039075 Biomarker 0.1 disgenet
Syndactyly FAT4 disease C0039075 Biomarker 0.1 disgenet
Syndactyly DCHS1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly HOXA11 disease C0039075 Biomarker 0.1 disgenet
Syndactyly NOG disease C0039075 Biomarker 0.1 disgenet
Syndactyly KIF7 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CCDC22 disease C0039075 Biomarker 0.1 disgenet
Syndactyly SMO disease C0039075 Biomarker 0.1 disgenet
Syndactyly ASXL1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly KIAA0753 disease C0039075 Biomarker 0.1 disgenet
Syndactyly FAM149B1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly PDE6D disease C0039075 Biomarker 0.1 disgenet
Syndactyly ZDHHC24 disease C0039075 CausalMutation 0.1 disgenet
Syndactyly IGF2 disease C0039075 Biomarker 0.1 disgenet
Syndactyly MMUT disease C0039075 CausalMutation 0.1 disgenet
Syndactyly FLNA disease C0039075 Biomarker 0.1 disgenet
Syndactyly MED12 disease C0039075 Biomarker 0.1 disgenet
Syndactyly MKS1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CACNA1G disease C0039075 Biomarker 0.1 disgenet
Syndactyly BBS5 disease C0039075 Biomarker 0.1 disgenet
Syndactyly DHODH disease C0039075 Biomarker 0.1 disgenet
Syndactyly BLM disease C0039075 Biomarker 0.1 disgenet
Syndactyly ANKRD11 disease C0039075 Biomarker 0.1 disgenet
Syndactyly TXNDC15 disease C0039075 GeneticVariation 0.1 disgenet
Syndactyly HEPHL1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CHSY1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly SLC25A24 disease C0039075 Biomarker 0.1 disgenet
Syndactyly FIG4 disease C0039075 Biomarker 0.1 disgenet
Syndactyly DLL4 disease C0039075 Biomarker 0.1 disgenet
Syndactyly OFD1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CRIPT disease C0039075 Biomarker 0.1 disgenet
Syndactyly SALL4 disease C0039075 Biomarker 0.1 disgenet
Syndactyly PHIP disease C0039075 CausalMutation 0.1 disgenet
Syndactyly MKKS disease C0039075 Biomarker 0.1 disgenet
Syndactyly CHD7 disease C0039075 CausalMutation 0.1 disgenet
Syndactyly FGD1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CILK1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly IFT81 disease C0039075 Biomarker 0.1 disgenet
Syndactyly MAN1B1 disease C0039075 GeneticVariation 0.1 disgenet
Syndactyly TMEM216 disease C0039075 Biomarker 0.1 disgenet
Syndactyly WDR60 disease C0039075 Biomarker 0.1 disgenet
Syndactyly WASHC5 disease C0039075 Biomarker 0.1 disgenet
Syndactyly OFD1 disease C0039075 CausalMutation 0.1 disgenet
Syndactyly LMNA disease C0039075 Biomarker 0.1 disgenet
Syndactyly RIPK4 disease C0039075 Biomarker 0.1 disgenet
Syndactyly BBS1 disease C0039075 CausalMutation 0.1 disgenet
Syndactyly PALB2 disease C0039075 CausalMutation 0.1 disgenet
Syndactyly TCTN3 disease C0039075 Biomarker 0.1 disgenet
Syndactyly DSP disease C0039075 Biomarker 0.1 disgenet
Syndactyly FGFR2 disease C0039075 Biomarker 0.1 disgenet
Syndactyly BBS4 disease C0039075 Biomarker 0.1 disgenet
Syndactyly WDR35 disease C0039075 Biomarker 0.1 disgenet
Syndactyly NOTCH1 disease C0039075 Biomarker 0.1 disgenet
Syndactyly CHRNG disease C0039075 Biomarker 0.1 disgenet
Syndactyly FGFR2 disease C0039075 AlteredExpression 0.1 disgenet
Syndactyly EP300 disease C0039075 Biomarker 0.1 disgenet
Syndactyly VAC14 disease C0039075 Biomarker 0.1 disgenet
Syndactyly FGFR2 disease C0039075 GeneticVariation 0.1 disgenet
Syndactyly GLI3 disease C0039075 GeneticVariation 0.04 disgenet
Syndactyly BHLHA9 disease C0039075 Biomarker 0.04 disgenet
Syndactyly SOST disease C0039075 GeneticVariation 0.04 disgenet
Syndactyly SOST disease C0039075 Biomarker 0.04 disgenet
Syndactyly BHLHA9 disease C0039075 GeneticVariation 0.04 disgenet
Syndactyly ZRS disease C0039075 GeneticVariation 0.03 disgenet
Syndactyly FRAS1 disease C0039075 Biomarker 0.03 disgenet
Syndactyly FRAS1 disease C0039075 GeneticVariation 0.03 disgenet
Syndactyly BMP2 disease C0039075 GeneticVariation 0.02 disgenet
Syndactyly GDF5 disease C0039075 GeneticVariation 0.02 disgenet
Syndactyly NECTIN4 disease C0039075 Biomarker 0.02 orphanet , disgenet
Syndactyly NECTIN4 disease C0039075 GeneticVariation 0.02 orphanet , disgenet
Syndactyly BMPR1B disease C0039075 GeneticVariation 0.02 disgenet
Syndactyly GJA1 disease C0039075 GeneticVariation 0.02 disgenet
Syndactyly BMP2 disease C0039075 Biomarker 0.02 disgenet
Syndactyly MSX2 disease C0039075 AlteredExpression 0.02 disgenet
Syndactyly MSX2 disease C0039075 Biomarker 0.02 disgenet
Syndactyly ABHD5 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly TWIST1 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly ACSL3 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly ZNF804A disease C0039075 Biomarker 0.01 disgenet
Syndactyly FBLN1 disease C0039075 GeneticVariation 0.01 orphanet , disgenet
Syndactyly WNT5A disease C0039075 Biomarker 0.01 disgenet
Syndactyly SMOC1 disease C0039075 Biomarker 0.01 disgenet
Syndactyly AKIRIN2 disease C0039075 Biomarker 0.01 disgenet
Syndactyly PHF21A disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly TCF12 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly NECTIN1 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly HOXD12 disease C0039075 Biomarker 0.01 disgenet
Syndactyly ALX4 disease C0039075 Biomarker 0.01 disgenet
Syndactyly CCN6 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly FGFR3 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly CUP2Q35 disease C0039075 AlteredExpression 0.01 disgenet
Syndactyly VSX1 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly FBN2 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly CKAP4 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly MID1 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly ZNF385B disease C0039075 Biomarker 0.01 disgenet
Syndactyly HOXD10 disease C0039075 AlteredExpression 0.01 disgenet
Syndactyly CDAN1 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly RPE65 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly AGO2 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly BMP4 disease C0039075 Biomarker 0.01 disgenet
Syndactyly MSSD disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly CKAP2L disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly MSX1 disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly UVRAG disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly HPD disease C0039075 GeneticVariation 0.01 disgenet
Syndactyly CCNQ NA C0039075 NA NA orphanet
Syndactyly FGF16 NA C0039075 NA NA orphanet
Syndactyly SHH NA C0039075 NA NA orphanet
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