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	Num. SNPs
C1859499	3-methylcrotonyl CoA carboxylase 2 deficiency	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases	Disease or Syndrome	genetic disease; disease of metabolism; disease of anatomical entity		1	45