DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Diseases associated to the Gene: CDK5RAP2 ×

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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
C0431350	Primary microcephaly	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases	Congenital Abnormality			22
C3711387	Autosomal Recessive Primary Microcephaly	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity; physical disorder		2
C1858108	Microcephaly, Primary Autosomal Recessive, 3	disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases	Disease or Syndrome	genetic disease; disease of anatomical entity; physical disorder		1