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: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2017 2017
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
disease Neoplasms; Infections Neoplastic Process 488 15 0.010 None 1.000 1 2017 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 134 0.010 None 1.000 1 2017 2017
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 158 28 0.010 None 1.000 1 2017 2017
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2017 2017
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2017 2017
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.010 None 1.000 1 2017 2017
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.010 None 1.000 1 2017 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2017 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2017 2017
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
disease Neoplastic Process 24 4 0.010 None 1.000 1 2017 2017
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.010 None 1.000 1 2017 2017
CUI: C0700201
Disease: Dyssomnias
Dyssomnias
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.010 None 1.000 1 2017 2017
CUI: C0403447
Disease: Chronic Kidney Insufficiency
Chronic Kidney Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 12 0.010 None 1.000 1 2017 2017
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia
disease Disease or Syndrome 13 2 0.010 None 1.000 1 2017 2017
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2017 2017
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2017 2017
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.010 None 1.000 1 2017 2017
CUI: C0155781
Disease: Thrombosed internal hemorrhoids
Thrombosed internal hemorrhoids
disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 1 2017 2017
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.620 strong 1.000 3 1 2016 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.020 None 1.000 2 2016 2016
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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2016 2016
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2016 2016