Source: CLINVAR

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: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 1.000 strong 0.951 0 108 1994 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
disease 0.920 definitive 1.000 1 36 2002 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.900 None 0.947 1 36 1994 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease 0.900 strong 0.948 0 24 1996 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
Hereditary Breast and Ovarian Cancer Syndrome
disease 0.800 strong 0.993 714 1160 1990 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease 0.800 None 0.988 1 3 1996 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.800 strong 0.948 0 3 1994 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease 0.720 strong 1.000 0 22 2005 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
disease 0.700 definitive 1.000 397 2632 1988 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.950 0 7 1994 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease 0.630 strong 1.000 0 22 2003 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.500 strong 0.970 12 1 1998 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.987 2 49 1995 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0025202
Disease: melanoma
melanoma
disease 0.500 None 0.870 0 2 1996 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
disease 0.400 strong 1.000 0 21 2007 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 3
disease 0.400 strong 1.000 0 22 2007 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.200 None 1.000 1 3 1998 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease 0.200 None 0.944 0 2 2000 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
Noninfiltrating Intraductal Carcinoma
disease 0.200 None 1.000 0 1 2003 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease 0.200 None 1.000 0 1 1999 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
disease 0.170 None 0.750 1 1 1995 2014
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease 0.140 None 1.000 0 1 2004 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.130 None 1.000 701 1021 1996 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
disease 0.130 None 1.000 1 2 2000 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 7 3 2005 2014