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: C0006897
Disease: Capillariasis
Capillariasis
disease Infections Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C0020413
Disease: Hymenolepiasis
Hymenolepiasis
disease Infections Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C0150841
Disease: muscle pain or weakness
muscle pain or weakness
phenotype Sign or Symptom 1 0.010 None 1.000 1 2005 2005
CUI: C0152073
Disease: Taenia saginata infection
Taenia saginata infection
disease Digestive System Diseases; Infections Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
disease Finding 1 2 0.100 None 0 2
CUI: C4016602
Disease: CYTOCHROME c OXIDASE I DEFICIENCY
CYTOCHROME c OXIDASE I DEFICIENCY
disease Finding 1 1 0.100 None 0 1
CUI: C0009225
Disease: Coenuriasis
Coenuriasis
disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C0036231
Disease: Sarcocystosis
Sarcocystosis
disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0086227
Disease: Enterobiasis
Enterobiasis
disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C1838877
Disease: Myoglobinuria, Recurrent
Myoglobinuria, Recurrent
phenotype Musculoskeletal Diseases Finding 2 1 0.100 None 0 1
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: C0012602
Disease: Dirofilariasis
Dirofilariasis
disease Infections; Animal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0277192
Disease: Infection by Spirocerca
Infection by Spirocerca
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1518715
Disease: Ovarian Fetiform Teratoma
Ovarian Fetiform Teratoma
disease Neoplastic Process 3 0.010 None 1.000 1 2015 2015
Palmoplantar Keratoderma with Deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 27 0.100 None 0 1
CUI: C4274324
Disease: Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Finding 3 0.300 None 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology
phenotype Anatomical Abnormality 4 10 0.100 None 0 9
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology
disease Disease or Syndrome 4 12 0.100 None 0 9
CUI: C0018013
Disease: Gnathostomiasis
Gnathostomiasis
disease Infections Disease or Syndrome 5 0.010 None 1.000 1 2006 2006
CUI: C0264492
Disease: Chronic respiratory failure
Chronic respiratory failure
disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1998 1998
CUI: C0277355
Disease: Flea Infestation
Flea Infestation
disease Infections Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
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
Infection by Strongyloides stercoralis
disease Infections Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0007894
Disease: Cestode Infections
Cestode Infections
group Infections Disease or Syndrome 8 0.020 None 1.000 2 2015 2017
CUI: C0856716
Disease: Asthma aspirin-sensitive
Asthma aspirin-sensitive
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 8 0.020 None 1.000 2 2008 2018