Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.140 None 1.000 0 0 2010 2019
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C4020730
Disease: Increased intramyocellular lipid droplets
Increased intramyocellular lipid droplets 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		phenotype 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0