BRCA1, BRCA1, DNA repair associated, 672

N. diseases: 411; N. variants: 2130
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.900 strong 0.942 2277 131 1987 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.800 strong 0.947 1491 34 1992 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.700 0.942 2152 50 1987 2018
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 51 1572 0.700 0.954 831 691 1990 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
phenotype Finding 3 1995 0.700 definitive 473 1978 1976 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.700 0.937 319 45 1987 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.700 0.937 297 144 1993 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.700 0.988 155 5 1994 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.700 1.000 22 2 2004 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1845 136 0.600 1.000 22 2002 2018
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
phenotype Finding 1 5 0.600 definitive 14 5 1994 2018
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
phenotype Finding 1 5 0.600 definitive 14 5 1994 2018
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 52 21 0.550 moderate 1.000 17 1999 2018
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 664 13 0.520 3 2005 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 1235 103 0.500 1.000 24 2004 2018
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease Neoplastic Process 28 0.450 1.000 5 2003 2018
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.400 0.946 1237 26 1992 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 1328 197 0.400 0.950 144 15 1994 2018
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
disease Neoplastic Process 158 37 0.400 0.938 114 6 1994 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.400 0.877 73 2 1995 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1868 225 0.400 1.000 20 2002 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.400 1.000 12 1996 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.340 1.000 5 1998 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.340 1.000 5 1998 2013
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 21 4 0.320 1.000 2 2009 2016