Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.600 GermlineCausalMutation ORPHANET Further biochemical and functional analysis demonstrated that the identified FA-causing ERCC4 mutations strongly disrupt the function of XPF in DNA ICL repair without severely compromising nucleotide excision repair. 23623386

2013