Disease Information

Disease Information
Disease Name	Gene Name	Type	UMLS	Association Type	Score	Source
Weaver syndrome	EZH2	disease	C0265210	GeneticVariation	0.8	orphanet , disgenet
Weaver syndrome	EZH2	disease	C0265210	CausalMutation	0.8	orphanet , disgenet
Weaver syndrome	EZH2	disease	C0265210	GermlineCausalMutation	0.8	orphanet , disgenet
Weaver syndrome	EZH2	disease	C0265210	Biomarker	0.8	orphanet , disgenet
Weaver syndrome	NSD1	disease	C0265210	Biomarker	0.65	orphanet , disgenet
Weaver syndrome	NSD1	disease	C0265210	GeneticVariation	0.65	orphanet , disgenet
Weaver syndrome	EED	disease	C0265210	Biomarker	0.37	orphanet , disgenet
Weaver syndrome	EED	disease	C0265210	GeneticVariation	0.37	orphanet , disgenet
Weaver syndrome	EED	disease	C0265210	GermlineCausalMutation	0.37	orphanet , disgenet
Weaver syndrome	KMT2A	disease	C0265210	Biomarker	0.36	disgenet
Weaver syndrome	KMT2A	disease	C0265210	GeneticVariation	0.36	disgenet
Weaver syndrome	KMT2A	disease	C0265210	PosttranslationalModification	0.36	disgenet
Weaver syndrome	SUZ12	disease	C0265210	GeneticVariation	0.32	orphanet , disgenet
Weaver syndrome	SUZ12	disease	C0265210	GermlineCausalMutation	0.32	orphanet , disgenet
Weaver syndrome	PIK3CA	disease	C0265210	Biomarker	0.2	disgenet
Weaver syndrome	DCAF17	disease	C0265210	GeneticVariation	0.03	disgenet
Weaver syndrome	NRCAM	disease	C0265210	GeneticVariation	0.01	disgenet
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