COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
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: C1963943
Disease: Atherothrombosis
Atherothrombosis
disease Acquired Abnormality 115 15 0.020 None 1.000 2 2006 2014
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2019 2019
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.110 None 1.000 1 2019 2019
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2005 2005
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2018 2018
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality
disease Anatomical Abnormality 23 0.100 None 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality 30 3 0.100 None 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology
phenotype Anatomical Abnormality 4 10 0.100 None 0 9
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation
disease Congenital Abnormality 25 7 0.030 None 1.000 3 2008 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None 1.000 1 2012 2012
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis
disease Nutritional and Metabolic Diseases Congenital Abnormality 12 5 0.010 None 1.000 1 2012 2012
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: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.100 None 0 6
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
phenotype Diagnostic Procedure 84 0.100 None 0
CUI: C4303092
Disease: Cystic echinococcosis
Cystic echinococcosis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Infections Disease or Syndrome 43 2 0.080 None 1.000 8 2009 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.070 None 1.000 7 1997 2017
Aspirin exacerbated respiratory disease
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 94 32 0.060 None 1.000 6 2016 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.140 None 0.750 4 1 2000 2019
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 8 0.100 None 1.000 4 8 1994 2008
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.030 None 1.000 3 2013 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.030 None 1.000 3 2013 2017
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.030 None 1.000 3 1999 2004
CUI: C0030757
Disease: Pediculus capitis infestation
Pediculus capitis infestation
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.030 None 1.000 3 2015 2019