DISEASES

Disease-gene associations mined from literature

Human genes for Cockayne syndrome

Cockayne syndrome [DOID:2962]

A syndrome that has_material_basis_in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

Synonyms:  Cockayne syndrome,  Cockayne disease,  Cockayne disorder,  Cockayne syndromes,  DOID:2962 ...

Linkouts:  OMIM #1 #2 #3