Property Summary

NCBI Gene PubMed Count 32
PubMed Score 32.99
PubTator Score 47.04

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Methylmalonic acidemia 37
Dystonia 164
Abnormal behavior 52
Abnormal urinary amino-acid findings 38
Abnormal visual evoked potential 26
Acidosis, Lactic 97
Aminoaciduria 38
Athetosis 16
Autosomal recessive predisposition 1442
Basal Ganglia Diseases 14
Blepharoptosis 231
Cachexia 50
Cerebellar Ataxia 304
Cerebral atrophy 178
Cerebral calcification 43
Cognitive delay 608
Creatine phosphokinase serum increased 110
Decreased activities of mitochondrial-encoded respiratory chain complexes 5
Decreased activity of mitochondrial respiratory chain 5
Decreased activity of mitochondrial respiratory complexes 5
Decreased nerve conduction velocity 35
Decreased tendon reflex 122
Degenerative brain disorder 100
Dilated ventricles (finding) 121
Dystonic disease 106
Electroretinogram abnormal 95
Elevated creatine kinase 110
Encephalopathy, progressive 6
Epilepsy 792
Facial diplegia 10
Failure to gain weight 365
Feeding difficulties in infancy 175
Generalized hirsutism 36
Global developmental delay 608
Gross motor development delay 21
Infantile onset 238
Irritation - emotion 68
Lactic acidemia 95
Loss of ability to walk in early childhood 2
Low Vision 174
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 2
Mental and motor retardation 608
Methylmalonic aciduria 9
Muscle Spasticity 195
Muscle hypotonia 571
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuropathy 261
Ophthalmoplegia 106
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Progressive brain disease 6
Progressive mental retardation 37
Respiratory insufficiency due to muscle weakness 37
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Skeletal muscle atrophy 139
Small head 374
Strabismus 270
Supratentorial atrophy 94
Visual Impairment 174
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 1.0
Heart conduction disease 83 0.0 3.0
Disease Target Count Z-score Confidence
Leigh disease 100 3.655 1.8

Expression

  Differential Expression (10)

Disease log2 FC p
adult high grade glioma -1.500 1.5e-04
astrocytic glioma -1.500 7.5e-03
atypical teratoid / rhabdoid tumor -1.400 3.3e-05
glioblastoma -1.600 2.8e-05
group 3 medulloblastoma -1.100 1.3e-02
hereditary spastic paraplegia -1.391 6.0e-03
invasive ductal carcinoma -1.200 1.2e-03
medulloblastoma, large-cell -1.400 3.2e-05
ovarian cancer -1.200 1.6e-02
Pick disease -1.400 2.3e-03

Gene RIF (15)

AA Sequence

MAASMFYGRLVAVATLRNHRPRTAQRAAAQVLGSSGLFNNHGLQVQQQQQRNLSLHEYMSMELLQEAGVS      1 - 70
VPKGYVAKSPDEAYAIAKKLGSKDVVIKAQVLAGGRGKGTFESGLKGGVKIVFSPEEAKAVSSQMIGKKL     71 - 140
FTKQTGEKGRICNQVLVCERKYPRREYYFAITMERSFQGPVLIGSSHGGVNIEDVAAESPEAIIKEPIDI    141 - 210
EEGIKKEQALQLAQKMGFPPNIVESAAENMVKLYSLFLKYDATMIEINPMVEDSDGAVLCMDAKINFDSN    211 - 280
SAYRQKKIFDLQDWTQEDERDKDAAKANLNYIGLDGNIGCLVNGAGLAMATMDIIKLHGGTPANFLDVGG    281 - 350
GATVHQVTEAFKLITSDKKVLAILVNIFGGIMRCDVIAQGIVMAVKDLEIKIPVVVRLQGTRVDDAKALI    351 - 420
ADSGLKILACDDLDEAARMVVKLSEIVTLAKQAHVDVKFQLPI                               421 - 463
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Text Mined References (38)

PMID Year Title