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: C0278493
Disease: Breast cancer recurrent
Breast cancer recurrent 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.010 None 1.000 1 2020 2020
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2017 2017
CUI: C0334246
Disease: Squamous cell carcinoma, metastatic
Squamous cell carcinoma, metastatic 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2019 2019
CUI: C0334359
Disease: Papillary serous cystadenocarcinoma
Papillary serous cystadenocarcinoma 		disease Neoplasms Neoplastic Process 28 2 0.010 None 1.000 1 2004 2004
CUI: C0338457
Disease: Aphasia, Progressive
Aphasia, Progressive 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 10 2 0.010 None 1.000 1 1994 1994
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.010 None 1.000 1 2019 2019
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 1996 1996
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None < 0.001 1 2018 2018
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.010 None 1.000 1 2018 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.010 None 1.000 1 2018 2018
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2020 2020
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2016 2016
CUI: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma 		disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2008 2008
CUI: C0278601
Disease: Inflammatory Breast Carcinoma
Inflammatory Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 0.010 None 1.000 1 2015 2015
CUI: C0278687
Disease: Ovarian cancer stage III
Ovarian cancer stage III 		disease Neoplastic Process 9 0.010 None 1.000 1 2011 2011
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 34 5 0.010 None 1.000 1 2018 2018
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 1997 1997
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2 2011 2011
CUI: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma 		disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2008 2008
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.010 None 1.000 1 2011 2011
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2 2011 2011
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 0.010 None 1.000 1 1996 1996
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
CUI: C0686377
Disease: CNS metastases
CNS metastases 		phenotype Neoplasms; Nervous System Diseases Neoplastic Process 102 14 0.010 None 1.000 1 2020 2020
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 74 22 0.010 None 1.000 1 2003 2003