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
C0024796	Marfan Syndrome	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases	Disease or Syndrome	disease of anatomical entity		130	1012
C4016054	Neonatal Marfan syndrome	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases	Disease or Syndrome			3	8