DisGeNET - a database of gene-disease associations

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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
C0349653	Congenital disorder of glycosylation type 1A	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases	Disease or Syndrome	genetic disease; disease of metabolism		1