Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.800 strong 0.986 1 0 1990 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.600 None 1.000 1 0 2001 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease 0.500 None 1.000 1 0 1995 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.400 None 0.946 3 0 1993 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
disease 0.360 None 1.000 2 0 1999 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial
disease 0.320 None 1.000 1 0 2009 2015
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
Hereditary site-specific ovarian cancer syndrome
disease 0.300 None 1.000 1 0 2005 2005