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: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 37 0.920 definitive 1.000 17 37 2002 2018
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: 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: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 3 		disease Finding 1 22 0.400 strong 1.000 2 22 2007 2013
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 		disease Finding 1 21 0.400 strong 1.000 2 21 2007 2013
CUI: C0349661
Disease: Glial tumor of brain (disorder)
Glial tumor of brain (disorder) 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 1 0.100 None 1.000 1 1 2014 2014
CUI: C1332442
Disease: BRCA1 Syndrome
BRCA1 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C4733126
Disease: hereditary breast/ovarian cancer - BRCA1
hereditary breast/ovarian cancer - BRCA1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Neoplastic Process 1 0.010 None 1.000 1 2008 2008
CUI: C4023192
Disease: Thyroid papillary adenoma
Thyroid papillary adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1 1 0.100 None 0 1
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		disease Finding 2 2633 0.700 definitive 1.000 407 2632 1988 2019
CUI: C1335178
Disease: Ovarian Serous Surface Papillary Adenocarcinoma
Ovarian Serous Surface Papillary Adenocarcinoma 		disease Neoplastic Process 2 2 0.100 None 1.000 2 1 2006 2009
CUI: C0015558
Disease: Fallopian Tube Neoplasms
Fallopian Tube Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 0.010 None 1.000 1 2003 2003
CUI: C0271614
Disease: Residual ovary syndrome
Residual ovary syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1368918
Disease: Primary serous papillary carcinoma of peritoneum
Primary serous papillary carcinoma of peritoneum 		disease Neoplastic Process 2 0.010 None 1.000 1 2002 2002
CUI: C3274709
Disease: Contralateral Breast Carcinoma
Contralateral Breast Carcinoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2006 2006
CUI: C3532429
Disease: Usual ductal hyperplasia of breast
Usual ductal hyperplasia of breast 		disease Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C4305467
Disease: Neuroendocrine tumor of pancreas
Neuroendocrine tumor of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2 2 0.100 None 1.000 1 1 2004 2004
CUI: C4749652
Disease: Hereditary site-specific ovarian cancer syndrome
Hereditary site-specific ovarian cancer syndrome 		disease Disease or Syndrome 2 0.300 None 1.000 1 2005 2005
CUI: C0796664
Disease: Childhood Ovarian Germ Cell Tumor
Childhood Ovarian Germ Cell Tumor 		disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C0854775
Disease: stage IV pancreatic cancer
stage IV pancreatic cancer 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 3 0.010 None 1.000 1 2009 2009
CUI: C1266082
Disease: Atypical medullary carcinoma
Atypical medullary carcinoma 		disease Neoplastic Process 3 0.010 None 1.000 1 1997 1997
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		disease Finding 3 2277 0.100 None 0 18
CUI: C0751416
Disease: Pelvic Cancer
Pelvic Cancer 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2012 2012
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 13 0.010 None 1.000 1 2011 2011
CUI: C0346167
Disease: Undifferentiated carcinoma of ovary
Undifferentiated carcinoma of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 5 0.010 None 1.000 1 2011 2011