Disease Information

Disease Information
Disease Name	Gene Name	Type	UMLS	Association Type	Score	Source
Cohen syndrome	VPS13B	disease	C0265223	CausalMutation	0.8	orphanet , disgenet
Cohen syndrome	VPS13B	disease	C0265223	Biomarker	0.8	orphanet , disgenet
Cohen syndrome	VPS13B	disease	C0265223	GermlineCausalMutation	0.8	orphanet , disgenet
Cohen syndrome	VPS13B	disease	C0265223	GeneticVariation	0.8	orphanet , disgenet
Cohen syndrome	COX6C	disease	C0265223	GeneticVariation	0.1	disgenet
Cohen syndrome	LYST	disease	C0265223	Biomarker	0.01	disgenet
Cohen syndrome	BBS1	disease	C0265223	Biomarker	0.01	disgenet
Cohen syndrome	MMP9	disease	C0265223	AlteredExpression	0.01	disgenet
Cohen syndrome	VEGFA	disease	C0265223	Biomarker	0.01	disgenet
Cohen syndrome	GPC3	disease	C0265223	Biomarker	0.01	disgenet
Cohen syndrome	SERPINB1	disease	C0265223	AlteredExpression	0.01	disgenet
Cohen syndrome	ICAM1	disease	C0265223	Biomarker	0.01	disgenet
Cohen syndrome	ELANE	disease	C0265223	AlteredExpression	0.01	disgenet
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