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
C0342646	Vitamin D-Dependent Rickets, Type 2A	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases	Disease or Syndrome	disease of anatomical entity		2	15