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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