Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Brachydactyly type A1 IHH disease C1862151 Biomarker 0.96 orphanet , disgenet
Brachydactyly type A1 IHH disease C1862151 GeneticVariation 0.96 orphanet , disgenet
Brachydactyly type A1 IHH disease C1862151 GermlineCausalMutation 0.96 orphanet , disgenet
Brachydactyly type A1 IHH disease C1862151 CausalMutation 0.96 orphanet , disgenet
Brachydactyly type A1 GDF5 disease C1862151 Biomarker 0.51 orphanet , disgenet
Brachydactyly type A1 GDF5 disease C1862151 GermlineCausalMutation 0.51 orphanet , disgenet
Brachydactyly type A1 BMPR1B disease C1862151 GeneticVariation 0.31 orphanet , disgenet
Brachydactyly type A1 BMPR1B disease C1862151 GermlineCausalMutation 0.31 orphanet , disgenet
Brachydactyly type A1 SHH disease C1862151 Biomarker 0.2 disgenet
Brachydactyly type A1 PTCH1 disease C1862151 GeneticVariation 0.01 disgenet
Brachydactyly type A1 HIP1 disease C1862151 GeneticVariation 0.01 disgenet
Brachydactyly type A1 GLI1 disease C1862151 GeneticVariation 0.01 disgenet
Brachydactyly type A1 BMPR1A disease C1862151 GeneticVariation 0.01 disgenet
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