Disease Information

Disease Information
Disease Name	Gene Name	Type	UMLS	Association Type	Score	Source
Desbuquois syndrome	CANT1	disease	C0432242	GeneticVariation	0.6	orphanet , disgenet
Desbuquois syndrome	CANT1	disease	C0432242	Biomarker	0.6	orphanet , disgenet
Desbuquois syndrome	CANT1	disease	C0432242	GermlineCausalMutation	0.6	orphanet , disgenet
Desbuquois syndrome	XYLT1	disease	C0432242	GeneticVariation	0.56	orphanet , disgenet
Desbuquois syndrome	XYLT1	disease	C0432242	Biomarker	0.56	orphanet , disgenet
Desbuquois syndrome	XYLT1	disease	C0432242	GermlineCausalMutation	0.56	orphanet , disgenet
Desbuquois syndrome	CHST3	disease	C0432242	GeneticVariation	0.02	disgenet
Desbuquois syndrome	CHST3	disease	C0432242	Biomarker	0.02	disgenet
Desbuquois syndrome	XYLT2	disease	C0432242	GeneticVariation	0.01	disgenet
Desbuquois syndrome	CSGALNACT1	disease	C0432242	GeneticVariation	0.01	disgenet
Desbuquois syndrome	FLNB	disease	C0432242	Biomarker	0.01	disgenet
Desbuquois syndrome	FAM20B	disease	C0432242	GeneticVariation	0.01	disgenet
Desbuquois syndrome	PGM3	disease	C0432242	GeneticVariation	0.01	disgenet
Desbuquois syndrome	IMPAD1	disease	C0432242	GeneticVariation	0.01	disgenet
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