DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

Semantic type

Disease Class

Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	Num. genes
C0751651	Mitochondrial Diseases	group	Nutritional and Metabolic Diseases	Disease or Syndrome	genetic disease; disease of metabolism	43
C1838979	MITOCHONDRIAL COMPLEX I DEFICIENCY	disease	Nutritional and Metabolic Diseases	Disease or Syndrome	genetic disease; disease of metabolism	22
C4748753	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	disease		Disease or Syndrome		1