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
C0270824	Visual seizure	disease	Pathological Conditions, Signs and Symptoms; Nervous System Diseases	Disease or Syndrome	disease of anatomical entity		122
C0376618	Endotoxemia	phenotype	Pathological Conditions, Signs and Symptoms; Infections	Disease or Syndrome			101
C0220981	Metabolic acidosis	phenotype	Nutritional and Metabolic Diseases	Pathologic Function	disease of metabolism	Abnormality of metabolism/homeostasis	6