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
C0018553	Hamartoma Syndrome, Multiple	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms	Neoplastic Process	genetic disease; disease of anatomical entity		270	139
C0027672	Neoplastic Syndromes, Hereditary	group	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms	Neoplastic Process			88	6387