RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients. 27328445 2016
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase. 25292178 2015
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart. 26354865 2015
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 24141787 2014
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 22167183 2012
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. 22451500 2012
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Germline RAD51C mutations confer susceptibility to ovarian cancer. 22538716 2012
dbSNP: rs267606999
rs267606999
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		C 0.700 GeneticVariation CLINVAR Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 20400964 2010