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
C2750460	Tsc2 Angiomyolipomas, Renal, Modifier Of	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases	Disease or Syndrome	genetic disease		2	1