Disease-gene associations mined from literature

Human genes for Cockayne syndrome

Cockayne syndrome [DOID:2962]

An autosomal recessive disease 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,  DOID:2962,  Neill-Dingwall syndrome ...

Linkouts:  OMIM #1 #2 #3