Disease Information

Disease Information
Disease Name	Gene Name	Type	UMLS	Association Type	Score	Source
Aniridia cerebellar ataxia mental deficiency	ITPR1	disease	C0431401	GeneticVariation	0.78	disgenet
Aniridia cerebellar ataxia mental deficiency	ITPR1	disease	C0431401	Biomarker	0.78	disgenet
Aniridia cerebellar ataxia mental deficiency	ITPR1	disease	C0431401	CausalMutation	0.78	disgenet
Aniridia cerebellar ataxia mental deficiency	ITPR1	disease	C0431401	GermlineCausalMutation	0.78	disgenet
Aniridia cerebellar ataxia mental deficiency	PAX6	disease	C0431401	GermlineCausalMutation	0.53	disgenet
Aniridia cerebellar ataxia mental deficiency	PAX6	disease	C0431401	GeneticVariation	0.53	disgenet
Aniridia cerebellar ataxia mental deficiency	PAX6	disease	C0431401	Biomarker	0.53	disgenet
Aniridia cerebellar ataxia mental deficiency	ACTA2	disease	C0431401	Biomarker	0.01	disgenet
Aniridia cerebellar ataxia mental deficiency	HCCS	disease	C0431401	GeneticVariation	0.01	disgenet
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