Property Summary

Ligand Count 1
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 103
Autosomal recessive predisposition 1442
Babinski Reflex 100
Blepharoptosis 231
Blind Vision 111
Blindness, Legal 110
Brain Edema 50
CSF lactate increased 33
Cerebellar Ataxia 304
Cerebellar degeneration 103
Cerebral Edema 30
Cognitive delay 608
Comatose 56
Decreased tendon reflex 122
Developmental regression 95
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperreflexia 209
Hypertrophic Cardiomyopathy 117
Hypoglycemia 152
Impaired exercise tolerance 42
Infratentorial atrophy 103
Lactic acidemia 95
Lethargy 77
Leukodystrophy 55
Liver Failure 73
Loss of developmental milestones 95
Mental and motor retardation 608
Mental deterioration in childhood 95
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
NADH:Q(1) Oxidoreductase deficiency 24
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Nystagmus 317
Pallor of optic disc 39
Pediatric failure to thrive 365
Phenotypic variability 150
Poor growth 114
Progressive macrocephaly 18
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Respiratory Failure 104
Schizophrenia 1160
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Skeletal muscle atrophy 139
Strabismus 270
Very poor growth 114
Vomiting 116
X-linked dominant 57
early onset schizophrenia 3
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 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