Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Gamma-cystathionase deficiency | CTH | disease | C0268616 | Biomarker | 0.94 | orphanet , disgenet |
Gamma-cystathionase deficiency | CTH | disease | C0268616 | GeneticVariation | 0.94 | orphanet , disgenet |
Gamma-cystathionase deficiency | CTH | disease | C0268616 | GermlineCausalMutation | 0.94 | orphanet , disgenet |
Gamma-cystathionase deficiency | PRDX1 | disease | C0268616 | Biomarker | 0.1 | disgenet |
Gamma-cystathionase deficiency | LMBRD1 | disease | C0268616 | Biomarker | 0.1 | disgenet |
Gamma-cystathionase deficiency | MMACHC | disease | C0268616 | Biomarker | 0.1 | disgenet |
Gamma-cystathionase deficiency | DGUOK | disease | C0268616 | GeneticVariation | 0.01 | disgenet |
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