DisGeNET - a database of gene-disease associations

Results per page

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
C1837229	Muscular Dystrophy, Congenital, Type 1D	disease	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms	Disease or Syndrome	genetic disease; disease of anatomical entity		1