Cerebrooculofacioskeletal Syndrome 2 (COFS2)

Cerebrooculofacioskeletal Syndrome 2, also known as cofs2, is related to cerebrooculofacioskeletal syndrome 1 and cockayne syndrome b. An important gene associated with Cerebrooculofacioskeletal Syndrome 2 is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include eye, and related phenotypes are hearing impairment and cataract