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
C0015397	Disorder of eye	group	Eye Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the eye	211
C0035334	Retinitis Pigmentosa	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases	Disease or Syndrome	disease of anatomical entity	Abnormality of the eye	78
C3150879	RETINITIS PIGMENTOSA 58	disease		Disease or Syndrome	disease of anatomical entity		1