Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.710 Biomarker GENOMICS_ENGLAND With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers. 29278735

2018
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.710 Biomarker GENOMICS_ENGLAND Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 22167183

2012
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.710 Biomarker GENOMICS_ENGLAND Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. 22232082

2012
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.710 Biomarker GENOMICS_ENGLAND Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 20400963

2010
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.710 Biomarker GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080

2009
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.710 Biomarker GENOMICS_ENGLAND