Source: GENOMICS_ENGLAND

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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 strong 0.956 1 0 1992 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease 0.800 strong 0.986 2 0 1990 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.800 strong 0.965 0 0 1992 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		disease 0.700 definitive 1.000 2 0 1976 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		disease 0.700 definitive 1.000 2 0 2013 2019
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 3 0 2001 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 		disease 0.400 None 1.000 2 0 2003 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 limited 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.330 strong 1.000 1 0 2002 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		disease 0.300 strong 1.000 1 0 2003 2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3842001
Disease: Adult only
Adult only 		phenotype 0.300 strong 0 0