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
C0949658	Cardiomyopathy, Hypertrophic, Familial	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases	Disease or Syndrome	disease of anatomical entity		8
C0007194	Hypertrophic Cardiomyopathy	disease	Cardiovascular Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the cardiovascular system	8