Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Bile Acid Synthesis Defect, Congenital, 3 | CYP7B1 | disease | C3151147 | Biomarker | 0.7 | orphanet , disgenet |
Bile Acid Synthesis Defect, Congenital, 3 | CYP7B1 | disease | C3151147 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
Bile Acid Synthesis Defect, Congenital, 3 | CYP7B1 | disease | C3151147 | CausalMutation | 0.7 | orphanet , disgenet |
Bile Acid Synthesis Defect, Congenital, 3 | CYP7A1 | disease | C3151147 | Biomarker | 0.3 | disgenet |
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