Mitochondria Phenome Knowledgebase

Gene Symbol COX10
Ensembl ID ENSG00000006695 Entrez 1352
Gene Alias - Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 17p12-p11.2 Subcell PMIDs 8078902
OMIM Gene 602125 Protein Complex Respiratory chain complex IV (RCCIV); RCCIV assembly
Swissprot ID Q12887 Swissprot Description Protoheme IX farnesyltransferase, mitochondrial precursor
OMIM Disease Deficiency of respiratory chain complex IV (RCC4) [220110]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
COX10 220110 Musculoskeletal-diseases musculoskeletal #2834526
COX10 220110 Bone-diseases musculoskeletal #2834526
COX10 220110 Metabolic-bone-diseases musculoskeletal #2834526
COX10 220110 Rickets normocalcemic normophosphatemic rickets musculoskeletal 2834526
COX10 220110 Muscular-diseases Histology findings; fiber size variations; type 1 fibre vacuolation; type 2 fiber atrophy musculoskeletal 2834526
COX10 220110 Digestive-system-diseases gastrointestinal #2834526 #12928484
COX10 220110 Gastrointestinal-diseases gastrointestinal #2834526
COX10 220110 Deglutition-disorders swallowing difficulties gastrointestinal 2834526
COX10 220110 Feeding-difficulties anorexia gastrointestinal 2834526 12928484
COX10 220110 Respiratory-tract-diseases respiratory #2834526 #12928484
COX10 220110 Respiration-disorders respiratory #2834526 #12928484
COX10 220110 Hyperventilation polypnea respiratory 2834526
COX10 220110 Respiratory-insufficiency respiratory failure; central respiratory failure respiratory 12928484
COX10 220110 Nervous-system-diseases neurologic #2834526 #10767350 #12928484 #15455402
COX10 220110 Central-nervous-system-diseases neurologic #2834526 #10767350 #12928484 #15455402
COX10 220110 Brain-diseases neurologic #2834526 #10767350 #12928484
COX10 220110 Encephalopathy encephalomyelopathy; Leigh like neurologic 10767350 12928484
COX10 220110 Seizures epilepsy; status epilepticus; convulsions neurologic 10767350
COX10 220110 Leukoencephalopathy leukodystrophy; progressive leukodystrophy; CT findings; white matter abnormal; hemispheral white matter hypodensities neurologic 2834526 10767350
COX10 220110 Cerebral-necrosis neurologic 12928484
COX10 220110 Electroencephalogram-abnormal generalized slow activity neurologic 2834526
COX10 220110 Movement-disorders short periods of abnormal movements neurologic 2834526
COX10 220110 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 12928484
COX10 220110 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; brainstem abnormal; basal ganglia abnormal; putamen abnormal; globus pallidus abnormal; thalamus abnormal; nucleus ruber abnormal; Leigh like neurologic 12928484 15455402
COX10 220110 Neurologic-manifestations neurologic #2834526 #10767350 #12928484 #15455402
COX10 220110 Ataxia hypermetria neurologic 10767350 15455402
COX10 220110 Gait-disorders gait abnormalities neurologic 2834526
COX10 220110 Neurobehavioral-manifestations neurologic #2834526 #15455402
COX10 220110 Consciousness-disorders comatose; low level of awareness neurologic 2834526
COX10 220110 Developmental-delay psychomotor retardation; developmental arrest neurologic 12928484 15455402
COX10 220110 Psychomotor-agitation motor agitation; pronounced motor agitation neurologic 15455402
COX10 220110 Lethargy drowsiness neurologic 2834526
COX10 220110 Neuromuscular-manifestations neurologic #2834526 #10767350 #12928484 #15455402
COX10 220110 Muscle-hypertonia limb hypertonia neurologic 2834526
COX10 220110 Muscle-hypotonia trunkal hypotonia neurologic 2834526 10767350 12928484 15455402
COX10 220110 Muscle-weakness severe neurologic 10767350
COX10 220110 Muscle-aching-and-stiffness muscle pain; painful limb hypertonia neurologic 2834526
COX10 220110 Reflexes-abnormal neurologic #2834526 #10767350 #15455402
COX10 220110 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 15455402
COX10 220110 Hyporeflexia deep tendon reflexes disappeared neurologic 2834526
COX10 220110 Pyramidal-tract-signs pyramidal syndrome; bilateral signs neurologic 2834526 10767350
COX10 220110 Hearing-disorders hearing loss; sensorineural; deafness neurologic 2834526 12928484
COX10 220110 Peripheral-nervous-system-diseases neurologic #2834526
COX10 220110 Polyneuropathies peripheral neuropathy neurologic 2834526
COX10 220110 Eye-diseases ophthalmologic #2834526 #10767350 #15455402
COX10 220110 Blepharoptosis ptosis ophthalmologic 10767350
COX10 220110 Ocular-motility-disorders ophthalmologic #2834526 #15455402
COX10 220110 Pathologic-nystagmus low amplitude nystagmus ophthalmologic 2834526 15455402
COX10 220110 Retinal-diseases tapetoretinal degeneration ophthalmologic 2834526
COX10 220110 Vision-disorders poor eye contact; weak fixation; blindness ophthalmologic 2834526 10767350 15455402
COX10 220110 Electroretinography-abnormal consistent with tapetoretinal degeneration ophthalmologic 2834526
COX10 220110 Genitourinary-diseases genitourinary #2834526 #10767350
COX10 220110 Urologic-diseases genitourinary #2834526 #10767350
COX10 220110 Kidney-diseases genitourinary #2834526 #10767350
COX10 220110 Nephritis interstitial tubulonephritis genitourinary 2834526
COX10 220110 Renal-insufficiency tubular dysfunction; renal tubular acidosis; De Toni Fanconi Debre syndrome; hypercalciuria; hyperphosphaturia; proteinuria genitourinary 2834526 10767350
COX10 220110 Cardiovascular-diseases cardiovascular #2834526 #12928484 #15455402
COX10 220110 Heart-diseases cardiovascular #12928484
COX10 220110 Cardiomyopathy hypertrophic cardiovascular 12928484
COX10 220110 Cardiorespiratory-arrest cardiovascular 2834526 12928484 15455402
COX10 220110 Vascular-diseases cardiovascular #12928484
COX10 220110 Hypotension cardiovascular 12928484
COX10 220110 Hematologic-diseases hematologic #12928484
COX10 220110 Anemia macrocytic hematologic 12928484
COX10 220110 Metabolic-diseases metabolic #2834526 #10767350 #12928484 #15455402
COX10 220110 Acid-base-imbalance metabolic #2834526 #10767350 #12928484 #15455402
COX10 220110 Acidosis lactic acidosis; CSF lactic acidosis; metabolic acidosis metabolic 2834526 10767350 12928484 15455402
COX10 220110 Glucose-metabolism-disorders metabolic #2834526 #12928484
COX10 220110 Glycosuria normoglycemic glycosuria metabolic 2834526
COX10 220110 Hypoglycemia metabolic 12928484
COX10 220110 Hypouricemia uric acid clearance elevated; De Toni Fanconi Debre syndrome metabolic 2834526
COX10 220110 Aminoacid-levels-abnormal elevated alanine; elevated proline; elevated glycine; hypoaminoacidemia metabolic 12928484
COX10 220110 Aminoaciduria increased urinary amino acids; proximal tubulopathy related metabolic 2834526 10767350
COX10 220110 Water-electrolyte-imbalance metabolic #2834526 #12928484
COX10 220110 Dehydration dehydrated metabolic 2834526 12928484
COX10 220110 Organic-acids-abnormal lactic aciduria; elevated tricarboxylic acid cycle intermediates metabolic 10767350 15455402
COX10 220110 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated metabolic 10767350
COX10 220110 Splenomegaly mild splenomegaly miscellaneous 12928484
COX10 220110 Growth-disorders miscellaneous #2834526 #12928484 #15455402
COX10 220110 Failure-to-thrive miscellaneous 12928484 15455402
COX10 220110 Growth-deficiency growth failure miscellaneous 2834526
COX10 220110 Mitochondria-abnormal paracrystalline inclusions miscellaneous 2834526
COX10 220110 RCCIV-deficiency muscle; lymphocytes; fibroblasts; liver; kidney miscellaneous 2834526 10767350 12928484

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