NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.100 None 1.000 14 1997 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.100 None 1.000 10 2003 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.080 None 0.875 8 2001 2019
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.340 limited 0.750 8 2000 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.060 None 1.000 6 2001 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.160 None 1.000 6 2004 2020
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.060 None 1.000 6 2003 2014
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.050 None 0.600 5 2007 2019
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
disease Neoplasms Neoplastic Process 786 118 0.040 None 1.000 4 2004 2012
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.040 None 1.000 4 2003 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.040 None 1.000 4 2001 2019
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.040 None 1.000 4 2004 2012
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.030 None 1.000 3 2011 2014
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 18 38 0.320 limited 1.000 3 1985 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.030 None 1.000 3 2013 2018
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
disease Neoplasms Neoplastic Process 63 18 0.030 None 1.000 3 2008 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.610 strong 1.000 2 2004 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 2 2004 2014
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 184 46 0.020 None 1.000 2 2006 2006
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.020 None 1.000 2 2006 2007
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.020 None 1.000 2 2016 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.020 None 1.000 2 2003 2007
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.020 None 1.000 2 2010 2011
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.020 None 1.000 2 2003 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2010 2015