Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.300 GermlineCausalMutation disease ORPHANET Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 11443545 2001