Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.320 Biomarker disease BEFREE XPF-ERCC1 participates in the Fanconi anemia pathway of cross-link repair. 19805513 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.320 AlteredExpression disease BEFREE Our results support a role for ERCC1 after creation of a double strand break for full activation of the Fanconi anemia pathway. 18672388 2008
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.320 Biomarker disease GENOMICS_ENGLAND 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