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	HPO Term	Num. genes	Num. SNPs
C0917804	Arteriovenous Malformations, Cerebral	group	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases	Congenital Abnormality	disease of anatomical entity; disease of cellular proliferation	Abnormality of the nervous system; Abnormality of the cardiovascular system	35	6