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
C0340427	Familial dilated cardiomyopathy	disease	Cardiovascular Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity		44
C1960469	Left ventricular noncompaction	disease	Cardiovascular Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the cardiovascular system	14
C1842870	Chromosome 1p36 Deletion Syndrome	disease	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities	Disease or Syndrome	genetic disease		5