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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