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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.140 None 1.000 4 8 2004 2014
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.130 None 0.667 3 4 2003 2007
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.120 None 1.000 2 1 2015 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.110 None 1.000 1 2008 2008
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.110 None 1.000 1 2019 2019
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.110 None < 0.001 1 2000 2000
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 485 24 0.110 None 1.000 1 1 2001 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.923 52 6 2000 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.907 43 6 2000 2019
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 36 92 1998 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.947 19 3 2000 2014
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.100 None 1.000 10 3 2004 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.100 None 1.000 1 1 2018 2018
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
disease Finding 3 2277 0.100 None 0 1
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 49 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0