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	Num. SNPs
C1845359	Spinal Muscular Atrophy, Distal, X-Linked 3	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases	Disease or Syndrome	disease of anatomical entity		1	9