Disease Information

Disease Information
Disease Name	Gene Name	Type	UMLS	Association Type	Score	Source
2-Hydroxyglutaricaciduria	SLC25A1	disease	C2746066	GermlineCausalMutation	0.72	orphanet , disgenet
2-Hydroxyglutaricaciduria	SLC25A1	disease	C2746066	Biomarker	0.72	orphanet , disgenet
2-Hydroxyglutaricaciduria	SLC25A1	disease	C2746066	GeneticVariation	0.72	orphanet , disgenet
2-Hydroxyglutaricaciduria	SLC25A1	disease	C2746066	CausalMutation	0.72	orphanet , disgenet
2-Hydroxyglutaricaciduria	L2HGDH	disease	C2746066	AlteredExpression	0.7	orphanet , disgenet
2-Hydroxyglutaricaciduria	L2HGDH	disease	C2746066	Biomarker	0.7	orphanet , disgenet
2-Hydroxyglutaricaciduria	L2HGDH	disease	C2746066	GeneticVariation	0.7	orphanet , disgenet
2-Hydroxyglutaricaciduria	D2HGDH	disease	C2746066	GeneticVariation	0.66	orphanet , disgenet
2-Hydroxyglutaricaciduria	D2HGDH	disease	C2746066	Biomarker	0.66	orphanet , disgenet
2-Hydroxyglutaricaciduria	IDH2	disease	C2746066	Biomarker	0.45	orphanet , disgenet
2-Hydroxyglutaricaciduria	IDH2	disease	C2746066	AlteredExpression	0.45	orphanet , disgenet
2-Hydroxyglutaricaciduria	IDH2	disease	C2746066	GeneticVariation	0.45	orphanet , disgenet
2-Hydroxyglutaricaciduria	IDH1	disease	C2746066	GeneticVariation	0.01	disgenet
2-Hydroxyglutaricaciduria	EPHA3	disease	C2746066	GeneticVariation	0.01	disgenet
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