DisGeNET - a database of gene-disease associations

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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
C1837341	Transposition of the Great Arteries, Dextro-Looped 1	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases	Congenital Abnormality	genetic disease; disease of anatomical entity		4