Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Ataxia-Telangiectasia Variant | ATM | disease | C1876175 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
Ataxia-Telangiectasia Variant | ATM | disease | C1876175 | CausalMutation | 0.4 | orphanet , disgenet |
Ataxia-Telangiectasia Variant | C11orf65 | disease | C1876175 | CausalMutation | 0.1 | disgenet |
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