Property Summary

NCBI Gene PubMed Count 21
PubMed Score 40.91
PubTator Score 24.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Leigh disease 100 4.857 2.4
Cytochrome-c Oxidase Deficiency 17 0.0 0.0
Disease Target Count
Abnormal respiratory patterns 20
Abnormal urinary amino-acid findings 38
Acidosis, Lactic 97
Adult Fanconi syndrome 12
Aminoaciduria 38
Anemia 365
Autosomal recessive predisposition 1442
Blepharoptosis 231
CSF lactate increased 33
Central nervous system demyelination 28
Cerebellar Ataxia 304
Cognitive delay 608
Decreased activity of cytochrome C oxidase in muscle tissue 10
Decreased liver function 24
Dull intelligence 645
Dysarthria 192
Dyspnea on exertion 24
Dystonia 164
Dystonic disease 106
Epilepsy 792
Failure to gain weight 365
Gliosis 56
Global developmental delay 608
Glycosuria 29
Hemoglobin low 124
Hepatocellular necrosis 14
Hepatomegaly 285
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperphosphaturia 21
Hyperreflexia 209
Hypertrichosis 46
Hypertrophic Cardiomyopathy 117
Impaired exercise tolerance 42
Increased hepatocellular lipid droplets 7
Increased intramyocellular lipid droplets 13
Increased serum lactate 60
Infantile onset 238
Intellectual disability 1016
Lactic acidemia 95
Liver Dysfunction 99
Liver dysfunction, mild 24
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mood swings 77
Motor delay 147
Muscle Spasticity 195
Muscle hypotonia 571
No development of motor milestones 147
Nystagmus 317
Ophthalmoplegia 106
Optic Atrophy 242
Pediatric failure to thrive 365
Phenotypic variability 150
Poor school performance 645
Progressive disorder 142
Proteinuria 144
Renal tubular disorder 12
Respiratory Failure 104
Respiratory distress 43
Respiratory insufficiency due to muscle weakness 37
Retinitis Pigmentosa 226
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Strabismus 270
Urine phosphorous concentration above normal 21
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

 GWAS Trait (1)

Gene RIF (10)

AA Sequence

MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQ      1 - 70
QVRPKPEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEE     71 - 140
KRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFF    141 - 210
EVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRI    211 - 280
SIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHP    281 - 350
GLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFYVDADRRSSRRLFFCSLWHLP    351 - 420
LLLLLMLTCKRPSGGGDAGPPPS                                                   421 - 443
//

Text Mined References (24)

PMID Year Title