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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.100 None 1.000 10 2017 2020
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.040 None 0.750 4 2010 2019
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.020 None 1.000 2 2010 2012
CUI: C0333293
Disease: Healing ulcer
Healing ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1 0.020 None 1.000 2 2017 2018
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.020 None 1.000 2 2017 2018
CUI: C0086501
Disease: Keratoma
Keratoma 		disease Skin and Connective Tissue Diseases Acquired Abnormality 5 0.300 None 1.000 1 2010 2010
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 2019 2019
CUI: C3544347
Disease: Intestinal fibrosis
Intestinal fibrosis 		phenotype Anatomical Abnormality 65 0.030 None 1.000 3 2018 2019
CUI: C3888461
Disease: Dry age-related macular degeneration
Dry age-related macular degeneration 		phenotype Anatomical Abnormality 11 1 0.020 None 1.000 2 2019 2019
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.010 None 1.000 1 2017 2017
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2019 2019
CUI: C0333440
Disease: Hyaline body
Hyaline body 		disease Anatomical Abnormality 14 0.010 None 1.000 1 2016 2016
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2018 2018
CUI: C0752156
Disease: Dural Arteriovenous Fistula
Dural Arteriovenous Fistula 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 17 2 0.010 None 1.000 1 2017 2017
CUI: C2717759
Disease: Degenerative Intervertebral Discs
Degenerative Intervertebral Discs 		disease Musculoskeletal Diseases Anatomical Abnormality 23 0.010 None 1.000 1 2019 2019
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2018 2018
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2019 2019
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2017 2017
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2017 2017
CUI: C0333704
Disease: Chromosome Breaks
Chromosome Breaks 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 14 0.300 None 1.000 1 2017 2017
CUI: C0376628
Disease: Chromosome Breakage
Chromosome Breakage 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 17 0.300 None 1.000 1 2017 2017
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.030 None 0.667 3 1 2014 2018
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.020 None 1.000 2 2016 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2019 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.010 None 1.000 1 2018 2018