NFE2L2, nuclear factor, erythroid 2 like 2, 4780

N. diseases: 823; N. variants: 34
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: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.010 None 1.000 1 2007 2007
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis 		disease Digestive System Diseases Disease or Syndrome 114 11 0.010 None 1.000 1 2007 2007
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 185 9 0.010 None 1.000 1 2007 2007
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		disease Digestive System Diseases Disease or Syndrome 102 33 0.010 None 1.000 1 2007 2007
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer 		disease Neoplastic Process 59 9 0.010 None 1.000 1 2007 2007
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I 		disease Neoplastic Process 115 1 0.010 None 1.000 1 2007 2007
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.020 None 1.000 2 2008 2008
CUI: C0017152
Disease: Gastritis
Gastritis 		disease Digestive System Diseases Disease or Syndrome 292 21 0.010 None 1.000 1 2008 2008
CUI: C0016978
Disease: gallbladder neoplasm
gallbladder neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 51 6 0.010 None 1.000 1 2008 2008
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.010 None 1.000 1 2008 2008
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 2009 2009
CUI: C0020507
Disease: Hyperplasia
Hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.300 None 1.000 1 2009 2009
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases 		group Digestive System Diseases Disease or Syndrome 144 14 0.310 None 1.000 2 2007 2010