Property Summary

NCBI Gene PubMed Count 34
PubMed Score 26.16
PubTator Score 21.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Leigh disease 100
Abnormal mitochondria in muscle tissue 20
Acidosis, Lactic 97
Acute necrotizing encephalopathy 14
Atrophy of cerebellum 101
Autosomal recessive predisposition 1407
Babinski Reflex 98
Blepharoptosis 229
Blind Vision 110
Blindness, Legal 109
Brain Edema 47
CSF lactate increased 33
Cerebellar Ataxia 302
Cerebellar degeneration 101
Cerebral Edema 30
Cognitive delay 596
Comatose 55
Decreased tendon reflex 121
Developmental regression 94
Epilepsy 775
Failure to gain weight 359
Feeding difficulties in infancy 174
Global developmental delay 596
Growth delay 112
Growth failure 112
Growth retardation 113
Highly variable clinical phenotype 147
Highly variable phenotype and severity 147
Highly variable phenotype, even within families 147
Hyperreflexia 208
Hypertrophic Cardiomyopathy 115
Hypoglycemia 146
Impaired exercise tolerance 42
Infratentorial atrophy 101
Lactic acidemia 95
Lethargy 77
Leukodystrophy 55
Liver Failure 72
Loss of developmental milestones 94
Mental and motor retardation 596
Mental deterioration in childhood 94
Muscle Spasticity 192
Muscle Weakness 168
Muscle hypotonia 562
NADH:Q(1) Oxidoreductase deficiency 24
Neurodevelopmental regression 94
Neurogenic Muscular Atrophy 136
Neurogenic muscle atrophy, especially in the lower limbs 136
Nystagmus 309
Pallor of optic disc 39
Pediatric failure to thrive 359
Phenotypic variability 147
Poor growth 112
Progressive macrocephaly 18
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Respiratory Failure 101
Schizophrenia 1136
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Skeletal muscle atrophy 136
Strabismus 265
Very poor growth 112
Vomiting 116
X-linked dominant 56
early onset schizophrenia 3
muscle degeneration 136
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.0

Expression

  Differential Expression (21)

Disease log2 FC p
adult high grade glioma -1.100 2.1e-02
aldosterone-producing adenoma -1.248 9.6e-03
astrocytic glioma -1.400 4.5e-02
atypical teratoid / rhabdoid tumor -1.400 1.0e-05
cystic fibrosis -1.200 1.2e-03
Duchenne muscular dystrophy -1.187 4.2e-02
ependymoma -1.300 5.0e-10
glioblastoma -1.300 1.4e-04
group 4 medulloblastoma -1.100 1.8e-04
intraductal papillary-mucinous carcinoma... 1.300 1.1e-02
intraductal papillary-mucinous neoplasm ... 1.500 1.2e-02
limb girdle muscular dystrophy 2A -1.714 1.1e-02
lung cancer 1.300 5.7e-03
medulloblastoma, large-cell -1.300 2.2e-04
osteosarcoma -1.603 7.7e-05
ovarian cancer 2.400 1.7e-05
pancreatic ductal adenocarcinoma liver m... -1.122 3.9e-02
Parkinson's disease -1.200 1.6e-03
primitive neuroectodermal tumor -1.100 8.7e-04
Rheumatoid arthritis 2.300 9.2e-03
ulcerative colitis -1.100 1.4e-03

Gene RIF (20)

AA Sequence

MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQIPRFCYHERLS      1 - 70
VAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQ     71 - 140
DQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYI    141 - 210
EKMFMSELSGNIIDICPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHED    211 - 280
INEEWISDKTRFAYDGLKRQRLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEA    281 - 350
LVALKDLLNRVDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK    351 - 420
SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAIL    421 - 490
AAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDL    491 - 560
PKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTEGRAQQTKVAVTPPGLAREDWKIIRALSEIA    561 - 630
GMTLPYDTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSI    631 - 700
SRASQTMAKCVKAVTEGAQAVEEPSIC                                               701 - 727
//

Text Mined References (38)

PMID Year Title