NFKB2, nuclear factor kappa B subunit 2, 4791

N. diseases: 194; N. variants: 12
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: C0276429
Disease: Enteroviral encephalomyelitis
Enteroviral encephalomyelitis 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2019 2019
CUI: C0338401
Disease: Enteroviral encephalitis
Enteroviral encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1400201
Disease: Pituitary anomalies
Pituitary anomalies 		disease Congenital Abnormality 1 0.010 None 1.000 1 2014 2014
CUI: C4021966
Disease: Abnormality of the periungual region
Abnormality of the periungual region 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 0.100 None 0
CUI: C4022874
Disease: Abnormal size of pituitary gland
Abnormal size of pituitary gland 		disease Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		disease Disease or Syndrome 2 6 0.630 strong 1.000 8 6 2006 2019
CUI: C3149378
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1
IMMUNODEFICIENCY, COMMON VARIABLE, 1 		disease Disease or Syndrome 2 2 0.100 None 0 1
CUI: C4072894
Disease: Decreased circulating androgen level
Decreased circulating androgen level 		phenotype Finding 2 0.100 None 0
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 3 9 0.010 None 1.000 1 2019 2019
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		phenotype Finding 6 1 0.100 None 0
CUI: C4023211
Disease: Adrenocorticotropin deficient adrenal insufficiency
Adrenocorticotropin deficient adrenal insufficiency 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0747556
Disease: Recurrent pharyngitis
Recurrent pharyngitis 		phenotype Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Sign or Symptom 8 0.100 None 0
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		phenotype Finding 9 3 0.100 None 0
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 11 11 0.010 None 1.000 1 2016 2016
CUI: C1844666
Disease: Immune dysregulation
Immune dysregulation 		phenotype Finding 11 1 0.300 strong 1.000 1 2014 2014
CUI: C2936665
Disease: Immunoglobulin Deficiency, Late-Onset
Immunoglobulin Deficiency, Late-Onset 		disease Immune System Diseases Disease or Syndrome 11 0.300 None 0
CUI: C1848389
Disease: Posterior pharyngeal cleft
Posterior pharyngeal cleft 		phenotype Finding 12 0.100 None 0
CUI: C0263504
Disease: Alopecia totalis
Alopecia totalis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 13 1 0.110 None 1.000 1 2019 2019
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		phenotype Nutritional and Metabolic Diseases Finding 13 1 0.100 None 0
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		phenotype Sign or Symptom 17 5 0.010 None 1.000 1 2009 2009
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype Finding 18 0.100 None 0
CUI: C1302772
Disease: Primary cutaneous lymphoma
Primary cutaneous lymphoma 		disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 1996 1996
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency 		disease Endocrine System Diseases Disease or Syndrome 20 1 0.420 strong 1.000 3 2014 2019
CUI: C0026975
Disease: Myelitis
Myelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 22 0.010 None 1.000 1 2017 2017