Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Glutamate formiminotransferase deficiency | FTCD | disease | C0268609 | GeneticVariation | 0.73 | orphanet , disgenet |
Glutamate formiminotransferase deficiency | FTCD | disease | C0268609 | Biomarker | 0.73 | orphanet , disgenet |
Glutamate formiminotransferase deficiency | FTCD | disease | C0268609 | CausalMutation | 0.73 | orphanet , disgenet |
Glutamate formiminotransferase deficiency | FTCD | disease | C0268609 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
Glutamate formiminotransferase deficiency | SLC46A1 | disease | C0268609 | GeneticVariation | 0.01 | disgenet |
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