DisGeNET - a database of gene-disease associations

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Semantic type

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Type

HPO Term

DO Class

CUI	Disease	Type	Disease Class	Semantic type	DO Class	HPO Term	Num. genes	Num. SNPs
C1843851	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	disease	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases	Disease or Syndrome	genetic disease; disease of metabolism		2	15