Property Summary

Ligand Count 1
NCBI Gene PubMed Count 252
PubMed Score 414.15
PubTator Score 458.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Cerebellar Ataxia 304
Leigh disease 100
Male infertility 206
Bipolar Disorder 666
3-methylglutaconic aciduria 29
Abdomen distended 43
Abdominal Pain 98
Abnormal vision 52
Abnormal visual evoked potential 26
Absent reflex 92
Absent tendon reflex 92
Acidosis, Lactic 97
Adult onset 82
Alpers Syndrome (disorder) 1
Astrocytosis 4
Ataxia, Appendicular 25
Atrophic and degenerative changes in the spinal cord 1
Atrophy of cerebellum 103
Atrophy of testis 14
Autosomal recessive predisposition 1442
Bell Palsy 58
Bile duct proliferation 9
Blepharoptosis 231
Blindness, Cortical 24
Bradykinesia 34
Cachexia 50
Cardiomyopathy, Dilated 83
Cataract 297
Cerebellar degeneration 103
Cerebral cortical neurodegeneration 1
Cerebrospinal fluid protein increased above normal 14
Choreoathetoid movements 32
Choreoathetosis 32
Cognitive delay 608
Comatose 56
Congenital pes cavus 88
Constipation 181
Cortical visual impairment 24
Creatine phosphokinase serum increased 110
Death in early adulthood 24
Decreased activity of cytochrome C oxidase in muscle tissue 10
Decreased distal vibration sense 4
Decreased tendon reflex 122
Deglutition Disorders 132
Dementia 175
Depressive disorder 409
Developmental regression 95
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Dysarthria 192
Dyschezia 135
Dysphonia 7
EMG: myopathic abnormalities 22
Elevated creatine kinase 110
Elevated hepatic transaminases 81
Epilepsia Partialis Continua 1
Ethylmalonic aciduria 6
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Favorable response to levodopa 6
Gait Ataxia 51
Gait, Drop Foot 24
Gastrointestinal dysmotility 5
Gastroparesis 22
Generalized amyotrophy 20
Generalized muscle weakness 57
Gliosis 56
Global developmental delay 608
Hepatic enzyme increased 81
Hepatomegaly 285
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hypointensity of cerebral white matter on MRI 5
Impaired cognition 96
Impaired distal proprioception 2
Impaired exercise tolerance 42
Increased serum lactate 60
Infantile onset 238
Infratentorial atrophy 103
Intermittent diarrhea 5
Intermittent migraine headaches 68
Intestinal pseudo-obstruction 12
Lactic acidemia 95
Lens Opacities 231
Leukoencephalopathies 29
Liver Dysfunction 99
Liver Failure 73
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Loss of developmental milestones 95
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 3
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 3
Malabsorption 82
Malnutrition 11
Mental and motor retardation 608
Mental deterioration in childhood 95
Mental impairment 95
Micronodular cirrhosis 12
Microvesicular steatosis (disorder) 6
Migraine Disorders 76
Mildly increased creatine kinase 20
Mitochondrial Myopathies 21
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Mood Disorders 184
Mood swings 77
Multiple mitochondrial DNA (mtDNA) deletions 5
Muscle Hypertonia 88
Muscle Rigidity 49
Muscle fiber necrosis 6
Muscle hypotonia 571
Muscle weakness of limb 21
Muscle weakness, progressive 22
Myoclonus 74
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuronal loss 25
Nystagmus 317
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 1
Paralysed 42
Paraparesis, Spastic 16
Pediatric failure to thrive 365
Peripheral sensory axonal neuropathy 7
Phenotypic variability 150
Premature Menopause 31
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Progressive disorder 142
Progressive gait ataxia 4
Progressive spasticity 6
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Ragged-red fibers 21
Rapidly progressive 27
Rapidly progressive disorder 27
Reflex, Deep Tendon, Absent 92
Respiratory insufficiency due to muscle weakness 37
Resting Tremor 9
Romberg's sign positive 4
SPINOCEREBELLAR ATAXIA WITH EPILEPSY 1
Secondary physiologic amenorrhea 32
Seizures, Focal 14
Sensorineural Hearing Loss (disorder) 284
Sensory ataxic neuropathy 2
Sensory axonal neuropathy 7
Skeletal muscle atrophy 139
Small head 374
Subclinical abnormal liver function tests 81
Subsarcolemmal accumulations of abnormally shaped mitochondria 4
Tonic - clonic seizures 44
Transaminases increased 81
Variable expressivity 157
Variation in muscle fiber size 16
Vestibular dysfunction 7
Vomiting 116
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Neuropathy 261 5.083 2.5
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (5)

Disease log2 FC p
intraductal papillary-mucinous adenoma (... 1.200 5.4e-04
intraductal papillary-mucinous carcinoma... 1.300 1.5e-03
lung cancer -1.600 8.1e-03
osteosarcoma -1.125 5.8e-04
ovarian cancer 1.200 8.3e-05

Synonym

Accession P54098 Q8NFM2 Q92515
Symbols PEO
MDP1
SCAE
MIRAS
POLG1
POLGA
SANDO
MTDPS4A
MTDPS4B

Gene

Gene RIF (235)

AA Sequence

MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLR      1 - 70
HNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFR     71 - 140
LLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPT    141 - 210
LAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIRE    211 - 280
QYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDI    281 - 350
SSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH    351 - 420
PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEW    421 - 490
DLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLP    491 - 560
KRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDN    561 - 630
LAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVE    631 - 700
AEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDF    701 - 770
LPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAI    771 - 840
LPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAVLGDAHFAGM    841 - 910
HGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAE    911 - 980
KAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWK    981 - 1050
GGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLF   1051 - 1120
EEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLR   1121 - 1190
KEVTMDCKTPSNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP                        1191 - 1239
//

Text Mined References (260)

PMID Year Title