BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
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: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
disease Neoplasms Neoplastic Process 117 6 0.010 None 1.000 1 2007 2007
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2015 2015
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.010 None 1.000 1 2007 2007
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 2015 2015
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.010 None 1.000 1 2018 2018
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.350 definitive 0.938 16 4 2001 2019
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO
phenotype Finding 11 24 0.100 None 0 1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.500 None 0.860 50 8 1996 2020
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.200 None 1.000 1 2006 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.060 None 1.000 6 2003 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.020 None 0.500 2 2006 2017
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
disease Neoplastic Process 10 0.010 None 1.000 1 2016 2016
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.100 None 0.867 15 1 2002 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.100 None 1.000 12 7 2009 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.100 None 1.000 12 7 2009 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2019 2019
CUI: C1518693
Disease: Clear cell adenocarcinoma of ovary
Clear cell adenocarcinoma of ovary
disease Neoplasms Neoplastic Process 30 2 0.300 None 0
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2011 2016
Colorectal cancer, hereditary nonpolyposis, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 24 179 0.300 limited 1.000 4 2001 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.020 None 1.000 2 2002 2006
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 2 0.010 None 1.000 1 2017 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1 2003 2019
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26 0.010 None 1.000 1 2018 2018
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 74 2117 0.400 None 1.000 13 6 2004 2017