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
C4277690	Ciliopathies	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities	Congenital Abnormality			109
C0687120	Nephronophthisis	disease	Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases	Disease or Syndrome	genetic disease	Abnormality of the genitourinary system	13
C1963674	Spinocerebellar Ataxia 10	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity		1