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
C0002452	Amelogenesis Imperfecta	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases	Congenital Abnormality	genetic disease; disease of anatomical entity	Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue	10