Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Brachydactyly type A2 GDF5 disease C1832702 Biomarker 0.95 orphanet , disgenet
Brachydactyly type A2 GDF5 disease C1832702 AlteredExpression 0.95 orphanet , disgenet
Brachydactyly type A2 GDF5 disease C1832702 CausalMutation 0.95 orphanet , disgenet
Brachydactyly type A2 GDF5 disease C1832702 GermlineCausalMutation 0.95 orphanet , disgenet
Brachydactyly type A2 GDF5 disease C1832702 GeneticVariation 0.95 orphanet , disgenet
Brachydactyly type A2 BMPR1B disease C1832702 CausalMutation 0.76 orphanet , disgenet
Brachydactyly type A2 BMPR1B disease C1832702 GeneticVariation 0.76 orphanet , disgenet
Brachydactyly type A2 BMPR1B disease C1832702 Biomarker 0.76 orphanet , disgenet
Brachydactyly type A2 BMPR1B disease C1832702 GermlineCausalMutation 0.76 orphanet , disgenet
Brachydactyly type A2 BMPR1B disease C1832702 AlteredExpression 0.76 orphanet , disgenet
Brachydactyly type A2 BMP2 disease C1832702 Biomarker 0.75 orphanet , disgenet
Brachydactyly type A2 BMP2 disease C1832702 GeneticVariation 0.75 orphanet , disgenet
Brachydactyly type A2 BMP2 disease C1832702 AlteredExpression 0.75 orphanet , disgenet
Brachydactyly type A2 BMP2 disease C1832702 GermlineCausalMutation 0.75 orphanet , disgenet
Brachydactyly type A2 DMP1 disease C1832702 Biomarker 0.3 disgenet
Brachydactyly type A2 GDF5-AS1 disease C1832702 CausalMutation 0.1 disgenet
Brachydactyly type A2 NOG disease C1832702 GeneticVariation 0.01 disgenet
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