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
C3711645	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases	Disease or Syndrome		Abnormality of metabolism/homeostasis; Abnormal cellular phenotype	1