Mitochondria Phenome Knowledgebase

Gene Symbol POLG
Ensembl ID ENSG00000140521 Entrez 5428
Gene Alias FLJ27114; PEO; POLG1; POLGA; SANDO; SCAE Subcellular Locations Mitochondria
Map Position 15q25 Subcell PMIDs 10608893 12087165
OMIM Gene 174763 Protein Complex DNA polymerase complex
Swissprot ID P54098 Swissprot Description DNA polymerase gamma subunit 1
OMIM Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOA1) [157640]; Susceptibility for male infertility [174763]; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis (PNDC) [203700]; Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOB) [258450]; Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [607459]

147 Gene-Feature associations for Gene POLG

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
POLG 157640 Acidosis lactic acidosis metabolic 2067633
POLG 157640 Asthma respiratory 15351195
POLG 157640 Ataxia neurologic 12975295 15351195
POLG 157640 Blepharoptosis bilateral ptosis; progressive ophthalmologic 12975295 15351195 15534189
POLG 157640 Bradykinesia neurologic 15351195 15534189
POLG 157640 Bronchial-diseases respiratory #15351195
POLG 157640 Cardiorespiratory-arrest cardiovascular 2067633
POLG 157640 Cardiovascular-diseases cardiovascular #2067633 #15534189
POLG 157640 Carnitine-levels-abnormal low metabolic 15534189
POLG 157640 Cataract ophthalmologic 2067633 12975295 15351195 15534189
POLG 157640 Central-nervous-system-diseases neurologic #15351195 #15534189
POLG 157640 Deglutition-disorders dysphagia gastrointestinal 2067633 15534189
POLG 157640 Dementia psychiatric 15351195
POLG 157640 Depressive-disorder periodic psychiatric 15351195
POLG 157640 Diabetes-mellitus diabetes in several family members metabolic 12975295
POLG 157640 Diarrhea alternating diarrhea and constipation gastrointestinal 12975295
POLG 157640 Digestive-system-diseases gastrointestinal #2067633 #12975295 #15534189
POLG 157640 Diplopia ophthalmologic 15534189
POLG 157640 Dyskinesias neurologic #15351195 #15534189
POLG 157640 Electromyography-abnormal neuropathic changes; myogenic changes; mixed neurologic 12975295
POLG 157640 Endocrine-system-diseases endocrinologic #12975295 #15351195 #15534189
POLG 157640 Exercise-intolerance fatigue miscellaneous 2067633 12975295 15351195 15534189
POLG 157640 Eye-diseases ophthalmologic #2067633 #11431686 #12975295 #15351195 #15534189
POLG 157640 Female-genital-diseases genitourinary #15351195
POLG 157640 Gait-disorders slowing; unsteadiness; balance difficulties neurologic 12975295 15534189
POLG 157640 Gastrointestinal-diseases gastrointestinal #2067633 #12975295 #15534189
POLG 157640 Genitourinary-diseases genitourinary #15351195
POLG 157640 Glucose-metabolism-disorders metabolic #12975295
POLG 157640 Goiter endocrinologic 15351195
POLG 157640 Gonadal-disorders endocrinologic #12975295 #15351195 #15534189
POLG 157640 Hearing-disorders hearing loss; sensorineural; hypacusis; progressive neurologic 12975295 15351195
POLG 157640 Hypertension history of hypertension cardiovascular 15534189
POLG 157640 Hypoandrogenism testosteron decreased; gonadotropins elevated; oestrogen decreased endocrinologic 12975295 15351195 15534189
POLG 157640 Hypogonadism hypogonadism; low oestrogen; high gonadotropins; testicular atrophy; gonadal dysgenesis; genital defects endocrinologic 12975295 15351195 15534189
POLG 157640 Hyporeflexia weak; absent; achilles reflexes absent neurologic 15351195 15534189
POLG 157640 Hypothyroidism endocrinologic 15351195
POLG 157640 Intestinal-obstruction gastrointestinal dysmotility; alternating diarrhea and constipation gastrointestinal 12975295
POLG 157640 Lens-diseases ophthalmologic #2067633 #12975295 #15351195 #15534189
POLG 157640 Menstruation-disturbances premature menopause genitourinary 15351195
POLG 157640 Mental-disorders psychiatric #15351195
POLG 157640 Mental-retardation neurologic 12975295 15351195
POLG 157640 Metabolic-diseases metabolic #2067633 #12975295 #15534189
POLG 157640 Mitochondria-abnormal Ragged red fibers; subsarcolemal accumulation of abnormally structured mitochondria; paracrystalline inclusions miscellaneous 2067633 11431686 12975295 15351195 15534189
POLG 157640 Mood-disorders psychiatric #15351195
POLG 157640 Movement-disorders neurologic #15351195 #15534189
POLG 157640 Muscle-rigidity neurologic 15351195 15534189
POLG 157640 Muscle-weakness proximal; pharynx; oropharyngeal muscle weakness; generalized neurologic 11431686 12975295 15351195 15534189
POLG 157640 Muscular-diseases mitochondrial myopathy musculoskeletal 2067633
POLG 157640 Musculoskeletal-diseases musculoskeletal #2067633
POLG 157640 Nervous-system-diseases neurologic #11431686 #12975295 #15351195 #15534189
POLG 157640 Neurobehavioral-manifestations neurologic #12975295 #15351195 #15534189
POLG 157640 Neurodegenerative-diseases neurologic 15351195
POLG 157640 Neurologic-manifestations neurologic #11431686 #12975295 #15351195 #15534189
POLG 157640 Neuromuscular-manifestations neurologic #11431686 #12975295 #15351195 #15534189
POLG 157640 Neuronal-loss-and-lesions substantia nigra abnormal neurologic 15351195
POLG 157640 Ocular-motility-disorders difficulty eye moving; head turning to fixate on objects; eye movements impaired ophthalmologic #2067633 #11431686 12975295 #15351195 #15534189
POLG 157640 Ophthalmoplegia ophthalmoparesis ophthalmologic 2067633 11431686 12975295 15351195 15534189
POLG 157640 Parkinsonian-disorders parkinsonism neurologic 15351195 15534189
POLG 157640 Peripheral-nervous-system-diseases neurologic #12975295 #15351195 #15534189
POLG 157640 Polyneuropathies sensorimotor neuropathy; polyneuropathy; lower extremities; numbness; stocking glove numbness neurologic 12975295 15351195 15534189
POLG 157640 Proprioception-impaired vibration sense loss; lower extremities neurologic 12975295 15534189
POLG 157640 Psychiatric-disorders psychiatric #15351195
POLG 157640 RCCI-deficiency muscle miscellaneous 2067633 12975295 15534189
POLG 157640 RCCIII-deficiency muscle miscellaneous 12975295 15534189
POLG 157640 RCCIV-deficiency muscle miscellaneous 2067633 12975295 15534189
POLG 157640 Reflexes-abnormal neurologic #15351195 #15534189
POLG 157640 Respiratory-tract-diseases respiratory #15351195
POLG 157640 Retinal-diseases pigmentary retinopathy ophthalmologic 15351195
POLG 157640 Speech-disorders slurred speech; communication impaired; speech impaired; due to oropharyngeal weakness and deafness neurologic 12975295 15534189
POLG 157640 Thyroid-diseases endocrinologic #15351195
POLG 157640 Tremor hand tremor; slowly progressive; resting tremor; head tremor neurologic 15351195 15534189
POLG 157640 Vascular-diseases cardiovascular #15534189
POLG 157640 Vision-disorders ophthalmologic #15534189
POLG 157640 Abdominal-pain abdominal cramping gastrointestinal 12975295
POLG 157640 Acid-base-imbalance metabolic #2067633
POLG 174763 Genitourinary-diseases genitourinary #11687794 #14688158
POLG 174763 Infertility-male male infertility; spermatogenesis impaired genitourinary 11687794 14688158
POLG 174763 Male-genital-diseases genitourinary #11687794 #14688158
POLG 203700 Acid-base-imbalance metabolic #15689359 #15929042 #16177225 #16545482
POLG 203700 Acidosis lactic acidosis; blood; CSF metabolic 15689359 15929042 16177225 16545482
POLG 203700 Ataxia neurologic 15689359
POLG 203700 Biliary-tract-diseases gastrointestinal #15689359 #16177225
POLG 203700 Blood-coagulation-disorders hypocoagulation; hypercoagulopathy hematologic 15689359 16177225
POLG 203700 Blood-protein-disorders hematologic #15689359 #16177225 #16545482
POLG 203700 Brain-diseases neurologic #15689359 #15929042 #16177225 #16545482 #16621917
POLG 203700 Cardiomyopathy cardiovascular 16621917
POLG 203700 Cardiovascular-diseases cardiovascular #16621917
POLG 203700 Central-nervous-system-diseases neurologic #15689359 #15929042 #16177225 #16545482 #16621917
POLG 203700 Cerebellar-atrophy cerebellar dysfunction neurologic 15689359
POLG 203700 Cerebral-atrophy MRI findings; diffuse; cerebral volume loss; ventriculomegaly neurologic 15689359 15929042 16177225 16545482
POLG 203700 Cerebral-necrosis spongiform changes neurologic 15929042
POLG 203700 Cerebrovascular-disorders neurologic #16177225
POLG 203700 Cholestasis bile ductule proliferation gastrointestinal 15689359 16177225
POLG 203700 Consciousness-disorders stupor; vegetative state neurologic 15689359
POLG 203700 Developmental-delay psychomotor retardation; psychomotor regression neurologic 15689359 15929042 16177225 16545482
POLG 203700 Dicarboxylic-aciduria metabolic 15689359
POLG 203700 Digestive-system-diseases gastrointestinal #15689359 #15929042 #16177225 #16545482 #16621917
POLG 203700 Dystonic-disorders atactic neurologic 15689359
POLG 203700 Electroencephalogram-abnormal high amplitude waves; slow waves; high frequency polyspikes; EEG abnormal neurologic 15689359 16177225 16545482
POLG 203700 Encephalopathy encephalomalacia; fatal encephalopathy neurologic 15689359 15929042 16545482 16621917
POLG 203700 Eye-diseases ophthalmologic #15689359 #16177225 #16545482 #16621917
POLG 203700 Failure-to-thrive miscellaneous 15689359
POLG 203700 Fatty-liver steatosis; fibrosis; necrosis gastrointestinal 15929042 16177225
POLG 203700 Glucose-metabolism-disorders metabolic #15689359 #16177225
POLG 203700 Growth-disorders miscellaneous #15689359
POLG 203700 Heart-diseases cardiovascular #16621917
POLG 203700 Hematologic-diseases hematologic #15689359 #16177225 #16545482
POLG 203700 Hepatomegaly gastrointestinal 15689359
POLG 203700 Hyperbilirubinemia jaundice metabolic 15689359
POLG 203700 Hypoalbuminemia albumin levels decreased; CSF hematologic 15689359 16177225 16545482
POLG 203700 Hypoglycemia metabolic 15689359 16177225
POLG 203700 Hyporeflexia deep tendon reflexes absent; areflexia neurologic 15689359
POLG 203700 Immune-system-diseases immunologic #16177225 #16545482
POLG 203700 Infections intercurrent; infection triggered episodes immunologic 16177225 16545482
POLG 203700 Intracranial-hemorrhages microhemorrhage neurologic 16177225
POLG 203700 Leukoencephalopathy subcortical areas of the frontal lobes neurologic 15689359 16177225
POLG 203700 Liver-cirrhosis micronodular gastrointestinal 15689359 16177225
POLG 203700 Liver-diseases hepatic failure; hepatopathy; cenrilobular necrosis gastrointestinal #15689359 15929042 16177225 16545482 16621917
POLG 203700 Liver-enzymes-abnormal ALT elevated; AST elevated; GGT elevated gastrointestinal 15689359 16177225
POLG 203700 Metabolic-diseases metabolic #15689359 #15929042 #16177225 #16545482
POLG 203700 Mitochondria-abnormal liver; heart; brain miscellaneous 15689359
POLG 203700 Movement-disorders neurologic #15689359
POLG 203700 Muscle-hypotonia neurologic 15689359
POLG 203700 Muscle-spasticity spasticity neurologic 15689359
POLG 203700 Muscle-weakness generalized neurologic 15689359
POLG 203700 Myoclonus right upper limp; myoclonus achalasia neurologic 15689359 16177225 16621917
POLG 203700 Nervous-system-diseases neurologic #15689359 #15929042 #16177225 #16545482 #16621917
POLG 203700 Neurobehavioral-manifestations neurologic #15689359
POLG 203700 Neurodegenerative-diseases neurodegeneration neurologic 16545482
POLG 203700 Neurologic-manifestations neurologic #15689359 #16177225 #16621917
POLG 203700 Neuromuscular-manifestations neurologic #15689359
POLG 203700 Neuronal-loss-and-lesions bilateral symmetric; basal ganglia abnormal; thalamus abnormal; cerebellar dentate nuclei abnormal; left occipital cortical abnormal; subcortical abnormal neurologic 15689359 15929042
POLG 203700 Ocular-motility-disorders ophthalmologic #15689359
POLG 203700 Optic-nerve-diseases optic disc pallor ophthalmologic 15689359 16177225 16545482
POLG 203700 Organic-acids-abnormal metabolic 15689359
POLG 203700 Pathologic-nystagmus ophthalmologic 15689359
POLG 203700 RCCI-deficiency liver miscellaneous 15929042 16177225
POLG 203700 RCCIII-deficiency liver miscellaneous 15929042 16177225
POLG 203700 RCCIV-deficiency liver miscellaneous 15929042 16177225
POLG 203700 Reflexes-abnormal neurologic #15689359
POLG 203700 Respiration-disorders respiratory #15689359
POLG 203700 Respiratory-insufficiency ventilatory insufficiency; due to generalized muscle weakness respiratory 15689359
POLG 203700 Respiratory-tract-diseases respiratory #15689359
POLG 203700 Seizures intractable seizures; epilepsia partialis continua; refractory; mixed type seizures; epilepsy neurologic 15689359 15929042 16177225 16545482 16621917
POLG 203700 Strabismus squint ophthalmologic 15689359
POLG 203700 Stroke-like-episodes neurologic 16621917
POLG 203700 Vision-disorders vision loss; blindness; cortical blindness; blindness ophthalmologic 15689359 16177225 16545482 16621917
POLG 203700 Vomiting persistent; recurrent; frequent gastrointestinal 15689359
POLG 258450 Acid-base-imbalance metabolic #15477547 #16638794
POLG 258450 Acidosis lactic acidosis metabolic 15477547 16638794
POLG 258450 Ataxia balance disturbance; sensory ataxia; progressive ataxia; sensory ataxia; cerebellar ataxia; ataxic neuropathy neurologic 12825077 12975295 14694057 15477547 16621917 16638794
POLG 258450 Axonal-degeneration axonopathy; axonal neuropathy; EMG finding neurologic 15477547 16715201
POLG 258450 Blepharoptosis bilateral ptosis; ptosis ophthalmologic 12707443 12975295 15351195 15477547 16401742 16638794 16715201
POLG 258450 Blood-coagulation-disorders disseminated intravascular coagulation hematologic 16638794
POLG 258450 Blood-protein-disorders hematologic #16638794
POLG 258450 Bradykinesia neurologic 15351195 16638794
POLG 258450 Brain-diseases neurologic #15477547 #16401742 #16621917 #16638794
POLG 258450 Bronchial-diseases chronic bronchitis respiratory 16621917
POLG 258450 Cachexia miscellaneous 12825077
POLG 258450 Cardiomyopathy incipient cardiomyopathy; dilated; atrial hypertrophy cardiovascular 14694057 15477547 16401742 16621917
POLG 258450 Cardiorespiratory-arrest sudden death cardiovascular 15477547
POLG 258450 Cardiovascular-diseases cardiovascular #12975295 #14694057 #15477547 #16401742 #16621917
POLG 258450 Cataract ophthalmologic 12975295 15351195 15477547
POLG 258450 Central-nervous-system-diseases neurologic #14694057 #15351195 #15477547 #16401742 #16621917 #16638794
POLG 258450 Cerebellar-atrophy cerebellar vermis atrophy; superior cerebellar vermis atrophy neurologic 16638794
POLG 258450 Cerebral-necrosis subependymal and subpial regions neurologic 15477547
POLG 258450 Consciousness-disorders stupor neurologic 15477547
POLG 258450 Creatine-kinase-abnormal elevated miscellaneous 14694057 15477547 16401742
POLG 258450 Deglutition-disorders dysphagia gastrointestinal 15477547 16621917 16715201
POLG 258450 Dementia cognitive impairment; cognitive decline psychiatric 14694057 15477547 16621917 16638794
POLG 258450 Depressive-disorder periodic psychiatric 15351195
POLG 258450 Developmental-delay psychomotor development delayed; speech delay neurologic 16638794
POLG 258450 Diabetes-mellitus diabetes metabolic 16621917
POLG 258450 Diarrhea gastrointestinal dysmotility; diarrhea and constipation gastrointestinal 12975295
POLG 258450 Digestive-system-diseases gastrointestinal #12825077 #12975295 #14694057 #15477547 #16621917 #16638794 #16715201
POLG 258450 Dysarthria dysarthric; slurred speech neurologic 15477547
POLG 258450 Dyskinesias neurologic #15351195 #16638794
POLG 258450 Electroencephalogram-abnormal background slowing; occipital EEG focus neurologic 15477547 16638794
POLG 258450 Endocrine-system-diseases endocrinologic #16621917
POLG 258450 Exercise-intolerance fatigue miscellaneous 15351195 16621917
POLG 258450 Eye-diseases ophthalmologic #12707443 #12825077 #12975295 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201
POLG 258450 Fatty-liver steatosis; centrolobular degeneration; liver necrosis gastrointestinal 16638794
POLG 258450 Female-genital-diseases genitourinary #15351195
POLG 258450 Foot-deformities pes cavus musculoskeletal 15477547 16715201
POLG 258450 Gait-disorders imbalance; romberg positive; unsteadiness; gait unsteadiness; steppage gait neurologic 14694057 15477547 16638794 16715201
POLG 258450 Gastrointestinal-diseases gastrointestinal #12825077 #12975295 #15477547 #16621917 #16715201
POLG 258450 Genitourinary-diseases genitourinary #15351195
POLG 258450 Glucose-metabolism-disorders metabolic #16621917
POLG 258450 Headache-disorders migraine; migraine like headache neurologic 16638794
POLG 258450 Hearing-disorders hearing loss; deafness neurologic 16401742 16621917
POLG 258450 Heart-diseases cardiovascular #14694057 #15477547 #16401742 #16621917
POLG 258450 Hematologic-diseases hematologic #16638794
POLG 258450 Hyperbilirubinemia bilirubin elevated metabolic 14694057
POLG 258450 Hyperventilation respiratory 15477547
POLG 258450 Hypoalbuminemia albumin low hematologic 16638794
POLG 258450 Hyporeflexia deep tendon reflexes absent; areflexia neurologic 12975295 14694057 15477547 16715201
POLG 258450 Hypotension cardiovascular #12975295
POLG 258450 Intestinal-obstruction intestinal pseudoobstruction; gastroparesis; anorexia; gastrointestinal dysmotility; diarrhea and constipation; dysmotility; dilatation gastrointestinal 12825077 12975295 15477547
POLG 258450 Lens-diseases ophthalmologic #12975295 #15351195 #15477547
POLG 258450 Liver-diseases valproate induced; liver failure; hepatic failure; acute liver necrosis gastrointestinal 14694057 16638794
POLG 258450 Liver-enzymes-abnormal liver enzymes elevated gastrointestinal 14694057 16638794
POLG 258450 Menstruation-disturbances premature menopause genitourinary 15351195
POLG 258450 Mental-disorders psychiatric #14694057 #15351195 #15477547 #16621917 #16638794
POLG 258450 Metabolic-brain-diseases CSF protein elevated metabolic 15477547 16638794
POLG 258450 Metabolic-diseases metabolic #14694057 #15477547 #16621917 #16638794
POLG 258450 Mitochondria-abnormal Ragged red fibers; subsarcolemmal accumulation; inclusions miscellaneous 12707443 12825077 12975295 15351195 15477547 16401742 16715201
POLG 258450 Mood-disorders psychiatric #15351195
POLG 258450 Movement-disorders neurologic #14694057 #15351195 #15477547 #16638794
POLG 258450 Muscle-rigidity neurologic 15351195 16638794
POLG 258450 Muscle-weakness proximal; pharynx; progressive weakness; facial muscle weakness neurologic 12825077 15351195 15477547 16401742 16715201
POLG 258450 Muscular-atrophy distal lower limbs; muscle wasting neurologic 15477547 16401742 16715201
POLG 258450 Muscular-diseases type I fiber prevalence; type 2 fiber grouping; lipid droplets; glycogen increased; angular hypotrophic fibers; myopathy musculoskeletal 16621917 16715201
POLG 258450 Musculoskeletal-diseases musculoskeletal #15477547 #16621917 #16715201
POLG 258450 Myoclonus myoclonic jerks; myoclonus; palatal myoclonus; myokymia neurologic 14694057 15477547 16638794
POLG 258450 Nervous-system-diseases neurologic #12825077 #12975295 #14694057 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201
POLG 258450 Neurobehavioral-manifestations neurologic #15477547
POLG 258450 Neurologic-manifestations neurologic #12825077 #12975295 #14694057 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201
POLG 258450 Neuromuscular-manifestations neurologic #12825077 #15351195 #15477547 #16401742 #16638794 #16715201
POLG 258450 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; hypothalamus abnormal; cerebellar white matter abnormal; thalamus abnormal; medulla oblongata abnormal; infarct like changes; inferior olives abnormal; basal ganglia abnormal; cerebellar nuclei abnormal; parietal cortex abnormal neurologic 15477547 16638794
POLG 258450 Ocular-motility-disorders eye movement disorder; limitation of eye movements; eye movements abnormal ophthalmologic 12707443 #12825077 12975295 #15351195 #15477547 #16401742 #16621917 16638794 16715201
POLG 258450 Ophthalmoplegia ophthalmoparesis; late onset ophthalmoplegia ophthalmologic 12825077 12975295 15351195 15477547 16401742 16621917 16638794 16715201
POLG 258450 Orthostatic-hypotension orthostatic dizziness cardiovascular 12975295
POLG 258450 Paralysis-Paresis tetraparesis neurologic 16401742
POLG 258450 Parkinsonian-disorders parkinsonism neurologic 15351195 16638794
POLG 258450 Pathologic-nystagmus vertical nystagmus; gaze evoked nystagmus ophthalmologic 15477547 16638794
POLG 258450 Peripheral-nervous-system-diseases neurologic #12825077 #12975295 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201
POLG 258450 Polyneuropathies sensorimotor neuropathy; polyneuropathy; hypoesthesia; stocking hypoaesthesia; axonal neuropathy; peripheral neuropathy; hypomyelination; neuropathy neurologic 12825077 15351195 15477547 16401742 16621917 16638794 16715201
POLG 258450 Proprioception-impaired vibration sense loss; lower extremities; ankle vibration sense impaired neurologic 12975295 15477547 16715201
POLG 258450 Psychiatric-disorders acute psychatric illness psychiatric #14694057 #15351195 15477547 #16621917 #16638794
POLG 258450 Psychotic-disorders psychosis psychiatric 16621917
POLG 258450 Pyramidal-tract-signs extensor plantar response; babinski sign neurologic 15477547
POLG 258450 RCCI-deficiency muscle miscellaneous 12825077 12975295 16401742 16715201
POLG 258450 RCCII-deficiency miscellaneous 16401742
POLG 258450 RCCIII-deficiency muscle miscellaneous 12975295 16401742 16715201
POLG 258450 RCCIV-deficiency muscle miscellaneous 12825077 12975295 16401742 16715201
POLG 258450 Reflexes-abnormal neurologic #12975295 #14694057 #15477547 #16715201
POLG 258450 Respiration-disorders respiratory #15477547
POLG 258450 Respiratory-tract-diseases respiratory #15477547 #16621917
POLG 258450 Schizophrenia-and-psychotic-disorders psychiatric #16621917
POLG 258450 Seizures partial epileptic seizures; epilepsy; status epilepticus; tonic clonic seizures; motor seizures; myoclonus epilepsy neurologic 15477547 16401742 16621917 16638794
POLG 258450 Speech-disorders neurologic #15477547
POLG 258450 Thyroid-diseases endocrinologic 16621917
POLG 258450 Tremor minor tremor; resting tremor; upper limbs tremor; tremor and imbalance; head tremor neurologic 14694057 15351195 15477547 16638794
POLG 258450 Vascular-diseases cardiovascular #12975295
POLG 258450 Vision-disorders blindness; cortical blindness; visual signs; blurred vision; scotomata; flashes; visual phenomena ophthalmologic 15477547 16638794
POLG 258450 Voice-disorders dysphonia neurologic 16715201
POLG 607459 Deglutition-disorders difficulties swallowing; dysphagia gastrointestinal 12565911
POLG 607459 Dementia poor memory; cognitive impairment; demented psychiatric 12565911 15824347
POLG 607459 Depressive-disorder attempted suicide; depression psychiatric 12565911 15824347
POLG 607459 Diarrhea cachexia; weight loss gastrointestinal 15824347
POLG 607459 Digestive-system-diseases gastrointestinal #12565911 #15824347
POLG 607459 Dysarthria neurologic 12565911 15824347
POLG 607459 Dyskinesias dysdiadochokinesia; fingers neurologic 15824347
POLG 607459 Electroencephalogram-abnormal 3/second spike and wave activity; atypical poly spike and wave complexes neurologic 12565911 15824347
POLG 607459 Electromyography-abnormal myogenic signs; chronic reinnervation; fibrillations; abductor pollicis brevis muscle fibrillations neurologic 12565911
POLG 607459 Electroretinography-abnormal mild reduction in the amplitude of the b wave; scotopic ERG abnormal ophthalmologic 12565911
POLG 607459 Exercise-intolerance progressive exercise intolerance; fatigue miscellaneous 12565911
POLG 607459 Eye-diseases ophthalmologic #12565911 #15824347
POLG 607459 Foot-deformities pes cavus; pes plano valgus musculoskeletal 12565911
POLG 607459 Gait-disorders unsteadiness; imbalance; romberg positive; balance disturbance; frequent falls; steppage gait; gait ataxia neurologic 12565911 15824347
POLG 607459 Gastrointestinal-diseases gastrointestinal #12565911
POLG 607459 Gastrointestinal-hemorrhage bleeding gastric ulcer gastrointestinal 12565911
POLG 607459 Headache-disorders migraine neurologic 15824347
POLG 607459 Hearing-disorders hearing loss neurologic 12565911
POLG 607459 Heart-diseases cardiovascular #12565911
POLG 607459 Heart-valve-diseases mitral valve prolapse; mitral insufficiency cardiovascular 12565911
POLG 607459 Hyporeflexia deep tendon reflexes absent; areflexia neurologic 12565911 15824347
POLG 607459 Immune-system-diseases immunologic #12565911
POLG 607459 Infections respiratory tract infections immunologic 12565911
POLG 607459 Lethargy neurologic 15824347
POLG 607459 Lung-diseases respiratory #12565911
POLG 607459 Mental-disorders psychiatric #12565911 #15824347
POLG 607459 Metabolic-brain-diseases CSF protein elevated metabolic 12565911 15824347
POLG 607459 Metabolic-diseases metabolic #12565911 #15824347
POLG 607459 Mitochondria-abnormal Ragged red fibers; cox deficient fibers; abnormally structured mitochondria; crystalline inclusions; RRF; concentric cristae miscellaneous 12565911 15824347
POLG 607459 Mood-disorders unsteadiness; euphoric; emotional instability psychiatric 12565911 15824347
POLG 607459 Movement-disorders involuntary movements; heads; hands; rapid alternating movements neurologic 12565911 15824347
POLG 607459 Muscle-weakness facial weakness; generalized weakness neurologic 12565911
POLG 607459 Muscular-atrophy muscle wasting; amyotrophy; progressive muscle atrophy neurologic 12565911 15824347
POLG 607459 Muscular-diseases variation in fiber size; necrotic muscle fibers; myopathy; early onset myopathy musculoskeletal 12565911
POLG 607459 Musculoskeletal-diseases musculoskeletal #12565911
POLG 607459 Myoclonus arms; titubation; myoclonic jerks; facial muscles neurologic 15824347
POLG 607459 Myotonia myotonic discharges; biceps muscle; extensor digitorum communis muscles neurologic 12565911
POLG 607459 Nervous-system-diseases neurologic #12565911 #15824347
POLG 607459 Neurobehavioral-manifestations neurologic #12565911 #15824347
POLG 607459 Neurologic-manifestations neurologic #12565911 #15824347
POLG 607459 Neuromuscular-manifestations neurologic #12565911 #15824347
POLG 607459 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; cortical abnormalities; occipital poles abnormal; cerebellar hemispheres abnormal; thalamus abnormal; thalamic lesions neurologic 12565911 15824347
POLG 607459 Ocular-motility-disorders ophthalmologic #12565911 #15824347
POLG 607459 Ophthalmoplegia ophthalmoparesis ophthalmologic 12565911 15824347
POLG 607459 Paralysis-Paresis foot dorsiflexors paresis; limb paresis neurologic 12565911
POLG 607459 Pathologic-nystagmus horizontal nystagmus; vertical nystagmus; peripheral vestibular dysfunction ophthalmologic 12565911 15824347
POLG 607459 Peripheral-nervous-system-diseases neurologic #12565911 #15824347
POLG 607459 Pneumonia aspiration pneumonia respiratory 12565911
POLG 607459 Polyneuropathies sensory neuropathy; ataxic neuropathy; touch sensation decreased; temperature sensation decreased; myelinated fiber loss; axonal neuropathy; hypoesthesia neurologic 12565911 15824347
POLG 607459 Proprioception-impaired vibratory sensation decreased neurologic 12565911 15824347
POLG 607459 Psychiatric-disorders psychiatric features psychiatric 12565911 #15824347
POLG 607459 Reflexes-abnormal neurologic #12565911 #15824347
POLG 607459 Respiration-disorders respiratory #12565911
POLG 607459 Respiratory-insufficiency respiratory 12565911
POLG 607459 Respiratory-tract-diseases respiratory #12565911
POLG 607459 Retinal-diseases pepper and salt retinopathy; retinopathy ophthalmologic 12565911
POLG 607459 Seizures epilepsy; status epilepticus neurologic 15824347
POLG 607459 Speech-disorders neurologic #12565911 #15824347
POLG 607459 Strabismus squint; divergent strabismus ophthalmologic 15824347
POLG 607459 Tremor upper limb tremor neurologic 15824347
POLG 607459 Vision-disorders blurred vision; viual field defect; positive phenomena such as stars lights flashing ophthalmologic 15824347
POLG 607459 Voice-disorders nasal voice; dysphonia neurologic 12565911
POLG 607459 Vomiting nausea; nausea and vomiting gastrointestinal 15824347
POLG 607459 Ataxia sensory ataxia; dysdiadochokinesia; dysmetria; unsteadiness; titubation; ataxic gait; ataxic neurologic 12565911 15824347
POLG 607459 Athetosis pseudoathetoid movements; hands neurologic 12565911
POLG 607459 Blepharoptosis ptosis ophthalmologic 12565911
POLG 607459 Brain-diseases neurologic #12565911 #15824347
POLG 607459 Cachexia weight loss; cachexia miscellaneous 12565911 15824347
POLG 607459 Cardiovascular-diseases cardiovascular #12565911
POLG 607459 Central-nervous-system-diseases neurologic #12565911 #15824347
POLG 607459 Cerebellar-atrophy cerebellar atrophy neurologic 15824347
POLG 607459 Cerebral-necrosis secondary neurologic 15824347
POLG 607459 Cerebrovascular-disorders venous infarctions; cerebral hemispheres neurologic 15824347
POLG 607459 Confusion neurologic 15824347
POLG 607459 Creatine-kinase-abnormal elevated miscellaneous 12565911

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons