Mitochondria Phenome Knowledgebase

Gene Symbol COX15
Ensembl ID ENSG00000014919 Entrez 1355
Gene Alias - Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 10q24 Subcell PMIDs 15235026
OMIM Gene 603646 Protein Complex Respiratory chain complex IV (RCCIV); RCCIV assembly
Swissprot ID Q7KZN9 Swissprot Description Cytochrome c oxidase assembly protein COX15 homolog
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
COX15 220110 Musculoskeletal-diseases musculoskeletal #12474143 #15235026
COX15 220110 Craniofacial-abnormalities musculoskeletal #12474143 #15235026
COX15 220110 Microcephaly progressive musculoskeletal 12474143 15235026
COX15 220110 Digestive-system-diseases gastrointestinal #15235026 #15863660
COX15 220110 Gastrointestinal-diseases gastrointestinal tract dysfunction; bloody bowel motions gastrointestinal 15235026
COX15 220110 Feeding-difficulties weight loss; feeding difficulties gastrointestinal 15235026 15863660
COX15 220110 Respiratory-tract-diseases respiratory #12474143 #15235026
COX15 220110 Lung-diseases respiratory #12474143 #15235026
COX15 220110 Pneumonia pneumonia respiratory 12474143 15235026
COX15 220110 Nervous-system-diseases neurologic #12474143 #15235026 #15863660
COX15 220110 Central-nervous-system-diseases neurologic #12474143 #15235026 #15863660
COX15 220110 Brain-diseases neurologic #12474143 #15235026 #15863660
COX15 220110 Encephalopathy encephalomyelopathy; Leigh like neurologic 15235026 15863660
COX15 220110 Seizures epileptic seizures neurologic 12474143
COX15 220110 Leukoencephalopathy cerebellar white matter abnormalities neurologic 15863660
COX15 220110 Cerebellar-atrophy cerebellar atrophy; bilateral atrophy; cerebellar white matter abnormalities neurologic 15863660
COX15 220110 Movement-disorders neurologic #15863660
COX15 220110 Dystonic-disorders dystonic postures; upper limbs neurologic 15863660
COX15 220110 Tremor cerebellar tremor neurologic 15863660
COX15 220110 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 15235026 15863660
COX15 220110 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; basal ganglia abnormal; brainstem abnormal; midbrain abnormal; cerebral peduncles abnormal; periaqueductal region abnormal; Leigh like; cerebellar white matter abnormal; putamen abnormal; nucleus caudatus abnormal neurologic 15235026 15863660
COX15 220110 Neurologic-manifestations neurologic #12474143 #15235026 #15863660
COX15 220110 Developmental-delay psychomotor retardation neurologic 12474143 15235026 15863660
COX15 220110 Neuromuscular-manifestations neurologic #12474143 #15235026 #15863660
COX15 220110 Muscle-spasticity spasticity of the lower limbs; lower extremities neurologic 15235026
COX15 220110 Muscle-hypotonia axial hypotonia neurologic 12474143 15235026 15863660
COX15 220110 Muscle-weakness neurologic 15863660
COX15 220110 Muscular-atrophy muscle wasting neurologic 15863660
COX15 220110 Reflexes-abnormal neurologic #15863660
COX15 220110 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15863660
COX15 220110 Postural-instability progressive; postural control loss neurologic 15863660
COX15 220110 Eye-diseases ophthalmologic #15235026 #15863660
COX15 220110 Ocular-motility-disorders eye movements abnormal; incoordination ophthalmologic #15235026 15863660
COX15 220110 Pathologic-nystagmus horizontal nystagmus ophthalmologic 15235026
COX15 220110 Retinal-diseases retinopathy ophthalmologic 15235026
COX15 220110 Cardiovascular-diseases cardiovascular #12474143 #15235026
COX15 220110 Heart-diseases cardiovascular #12474143
COX15 220110 Cardiomyopathy hypertrophic; biventricular cardiovascular 12474143
COX15 220110 Cardiorespiratory-arrest cardiovascular 12474143 15235026
COX15 220110 Hematologic-diseases hematologic #12474143
COX15 220110 Leukocyte-disorders hematologic #12474143
COX15 220110 Eosinophilia eosiniphilic infiltrates; multiple tissues hematologic 12474143
COX15 220110 Metabolic-diseases metabolic #12474143 #15235026 #15863660
COX15 220110 Acid-base-imbalance metabolic #12474143 #15235026 #15863660
COX15 220110 Acidosis lactic acidosis; CSF; blood metabolic 12474143 15235026 15863660
COX15 220110 Heme-levels-abnormal mitochondrial; heme A decreased; heme O increased metabolic 12474143
COX15 220110 Growth-disorders miscellaneous #12474143 #15863660
COX15 220110 Failure-to-thrive miscellaneous 15863660
COX15 220110 Growth-deficiency growth arrest miscellaneous 12474143 15863660
COX15 220110 Dysmorphism-and-abnormalities midfacial hypoplasia miscellaneous 12474143
COX15 220110 Mitochondria-abnormal shapes abnormal; cristae abnormal; matrix densities miscellaneous 12474143
COX15 220110 RCCIV-deficiency heart; kidney; liver; muscle; fibroblasts miscellaneous 12474143 15863660

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