Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Isovaleric acidemia | IVD | disease | C0268575 | CausalMutation | 0.8 | orphanet , disgenet |
Isovaleric acidemia | IVD | disease | C0268575 | Biomarker | 0.8 | orphanet , disgenet |
Isovaleric acidemia | IVD | disease | C0268575 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
Isovaleric acidemia | IVD | disease | C0268575 | GeneticVariation | 0.8 | orphanet , disgenet |
Isovaleric acidemia | LUM | disease | C0268575 | Biomarker | 0.02 | disgenet |
Isovaleric acidemia | COX1 | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | PTGS2 | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | MTCO2P12 | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | TBPL1 | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | YWHAZ | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | CTHRC1 | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | TUBB4A | disease | C0268575 | GeneticVariation | 0.01 | disgenet |
Isovaleric acidemia | VEGFA | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | COX2 | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | MYC | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | PLA2G1B | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | GNA13 | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | MIR29C | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | PTGES | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | PIK3CA | disease | C0268575 | GeneticVariation | 0.01 | disgenet |
Isovaleric acidemia | TERF2 | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | AGT | disease | C0268575 | GeneticVariation | 0.01 | disgenet |
Isovaleric acidemia | PTGS1 | disease | C0268575 | AlteredExpression | 0.01 | disgenet |
Isovaleric acidemia | GSK3B | disease | C0268575 | Biomarker | 0.01 | disgenet |
Isovaleric acidemia | PLB1 | disease | C0268575 | Biomarker | 0.01 | disgenet |
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