Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
0.300 GermlineCausalMutation disease ORPHANET First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007