Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.310 Biomarker CLINGEN Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility. 26820313

2016
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.310 Biomarker CLINGEN Mcph1/Brit1 deficiency promotes genomic instability and tumor formation in a mouse model. 25362854

2015
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.310 Biomarker CLINGEN BRIT1 regulates p53 stability and functions as a tumor suppressor in breast cancer. 23729656

2013
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.310 Biomarker CLINGEN BRIT1/MCPH1 links chromatin remodelling to DNA damage response. 19525936

2009
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.310 Biomarker CLINGEN Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair. 19549900

2009
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.310 Biomarker CLINGEN BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer. 16872911

2006
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.310 Biomarker CLINGEN BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. 16217032

2005