Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Brachydactyly type C GDF5 disease C1862103 CausalMutation 1 orphanet , disgenet
Brachydactyly type C GDF5 disease C1862103 GermlineCausalMutation 1 orphanet , disgenet
Brachydactyly type C GDF5 disease C1862103 GeneticVariation 1 orphanet , disgenet
Brachydactyly type C GDF5 disease C1862103 Biomarker 1 orphanet , disgenet
Brachydactyly type C BMPR1B disease C1862103 GeneticVariation 0.41 orphanet , disgenet
Brachydactyly type C BMPR1B disease C1862103 Biomarker 0.41 orphanet , disgenet
Brachydactyly type C DMP1 disease C1862103 Biomarker 0.3 disgenet
Brachydactyly type C GDF5-AS1 disease C1862103 CausalMutation 0.1 disgenet
Brachydactyly type C GDF5-AS1 disease C1862103 GeneticVariation 0.1 disgenet
Brachydactyly type C MIR122 disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C LAMB3 disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C KIR2DL3 disease C1862103 GeneticVariation 0.01 disgenet
Brachydactyly type C MUC1 disease C1862103 GeneticVariation 0.01 disgenet
Brachydactyly type C GEM disease C1862103 GeneticVariation 0.01 disgenet
Brachydactyly type C AKT1 disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C IL2 disease C1862103 AlteredExpression 0.01 disgenet
Brachydactyly type C KIR3DL1 disease C1862103 GeneticVariation 0.01 disgenet
Brachydactyly type C BTC disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C KAT8 disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C UCA1 disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C MGAM disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C ENPP3 disease C1862103 Biomarker 0.01 disgenet
Brachydactyly type C MGAT3 disease C1862103 AlteredExpression 0.01 disgenet
Brachydactyly type C SI disease C1862103 Biomarker 0.01 disgenet
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