Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker CLINGEN Germline RECQL mutations are associated with breast cancer susceptibility. 25915596

2015
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker CLINGEN Our findings suggest that RECQL is a potential breast cancer susceptibility gene and that mutations in this gene contribute to familial breast cancer development. 25945795

2015
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker CLINGEN RECQL, a member of the RecQ family of DNA helicases, suppresses chromosomal instability. 17158923

2007
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker CLINGEN Human RECQ1 is a DNA damage responsive protein required for genotoxic stress resistance and suppression of sister chromatid exchanges. 18074021

2007
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker CLINGEN RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination. 15886194

2005