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
C1862151	BRACHYDACTYLY, TYPE A1 (disorder)	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity	Abnormality of limbs; Abnormality of the skeletal system	2