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
C0265306	Greig cephalopolysyndactyly syndrome	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases	Congenital Abnormality	genetic disease; disease of anatomical entity; disease of mental health		14	19