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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2019 2019
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 24 0.010 None 1.000 1 2010 2010
CUI: C0740380
Disease: Varicella zoster
Varicella zoster 		disease Disease or Syndrome 71 2 0.010 None 1.000 1 1999 1999
CUI: C0740421
Disease: Postsurgical menopause
Postsurgical menopause 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 2 0.010 None 1.000 1 2018 2018
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		disease Neoplastic Process 51 18 0.010 None 1.000 1 2017 2017
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None 1.000 1 2004 2004
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.010 None 1.000 1 2005 2005
CUI: C0684337
Disease: Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Ewings sarcoma-primitive neuroectodermal tumor (PNET) 		disease Neoplasms Neoplastic Process 117 3 0.010 None 1.000 1 2009 2009
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2012 2012
CUI: C0346185
Disease: Dysgerminoma of ovary
Dysgerminoma of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 6 0.010 None 1.000 1 2007 2007
CUI: C0346648
Disease: Malignant tumor of exocrine pancreas
Malignant tumor of exocrine pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 2002 2002
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2006 2006
CUI: C0392998
Disease: Carcinosarcoma of ovary
Carcinosarcoma of ovary 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2000 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.010 None 1.000 1 2009 2009
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2019 2019
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 1990 1990
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2008 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2012 2012
CUI: C0751075
Disease: Cancer of Digestive System
Cancer of Digestive System 		disease Digestive System Diseases; Neoplasms Neoplastic Process 71 15 0.010 None 1.000 1 2018 2018
CUI: C0278487
Disease: Stage III Breast Cancer AJCC v6
Stage III Breast Cancer AJCC v6 		disease Neoplastic Process 12 1 0.010 None 1.000 1 2009 2009
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 1994 1994
CUI: C0149978
Disease: Adenocarcinoma of rectum
Adenocarcinoma of rectum 		disease Digestive System Diseases; Neoplasms Neoplastic Process 103 1 0.010 None 1.000 1 2007 2007
CUI: C0153653
Disease: Malignant tumor of parathyroid gland
Malignant tumor of parathyroid gland 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 13 1 0.010 None 1.000 1 2003 2003
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2013 2013
CUI: C0156344
Disease: Endometriosis of ovary
Endometriosis of ovary 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2014 2014