BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.925 67 1995 2019
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 184 46 0.100 None 0.918 49 1995 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer 		disease Neoplastic Process 24 4 0.100 None 0.950 40 2000 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.100 None 0.970 33 1996 2018
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.100 None 0.968 31 1998 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.962 26 1997 2020
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.100 None 1.000 22 1996 2011
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.100 None 1.000 22 1996 2011
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.100 None 0.944 18 2009 2019
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.200 None 1.000 15 1996 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 14 1998 2016
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.100 None 1.000 12 1988 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.100 None 0.909 11 1997 2019
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.100 None 1.000 11 2010 2019
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.100 None 1.000 11 1999 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 0.909 11 1996 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 1.000 11 1998 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.100 None 0.900 10 2009 2020
CUI: C1333992
Disease: Hereditary Ovarian Carcinoma
Hereditary Ovarian Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 14 0.100 None 1.000 10 1996 2014
CUI: C2675522
Disease: OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype Finding 1 0.300 definitive 1.000 10 1996 2017
CUI: C0242788
Disease: Breast Neoplasms, Male
Breast Neoplasms, Male 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 0.100 None 1.000 10 2002 2008
CUI: C2675521
Disease: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype Finding 1 0.300 definitive 1.000 10 1996 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 76 206 0.100 None 1.000 10 1999 2019
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.580 None 1.000 10 2000 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.090 None 1.000 9 1994 2019