Property Summary

NCBI Gene PubMed Count 59
PubMed Score 94.98
PubTator Score 97.76

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Chronic progressive external ophthalmoplegia 26
Abnormal urinary amino-acid findings 38
Abnormality of retinal pigmentation 111
Aminoaciduria 38
Anterior hypopituitarism 18
Autosomal recessive predisposition 1442
Cachexia 50
Cerebellar Ataxia 304
Complete atrioventricular block 3
Congenital deafness 185
Deafness 198
Decreased to absent deep tendon reflexes 42
Depressive disorder 409
Dull intelligence 645
Dysarthria 192
Electromyogram abnormal 49
Epilepsy 792
External Ophthalmoplegia 6
Failure to gain weight 365
Feeding difficulties 127
Gait Ataxia 51
Hearing Loss, Partial 185
Impaired exercise tolerance 42
Increased muscle fatiguability 4
Intellectual disability 1016
Intervertebral space narrowing, progressive 2
Lactic acidemia 95
Low intelligence 645
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 3
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 3
Mental Retardation 645
Mental deficiency 645
Multiple mitochondrial DNA (mtDNA) deletions 5
Muscle Fatigue 4
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Pediatric failure to thrive 365
Poor school performance 645
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 5
Progressive disorder 142
Progressive neurologic deterioration 19
Proximal tubulopathy 9
Ragged-red fibers 21
Retinal pigment epithelial abnormality 111
Seizures 596
Skeletal muscle atrophy 139
hearing impairment 199
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Neuropathy 261 0.0 4.0
Disease Target Count Z-score Confidence
Cancer 2499 3.521 1.8

Expression

  Differential Expression (7)

Disease log2 FC p
acute quadriplegic myopathy 1.634 4.8e-06
atypical teratoid / rhabdoid tumor -1.100 4.1e-03
group 4 medulloblastoma -1.100 9.1e-04
medulloblastoma, large-cell -1.500 2.6e-02
ovarian cancer 1.700 2.5e-03
subependymal giant cell astrocytoma 1.966 1.3e-02
tuberculosis -1.100 3.4e-05

Protein-protein Interaction (4)

Gene RIF (49)

AA Sequence

MGDPERPEAAGLDQDERSSSDTNESEIKSNEEPLLRKSSRRFVIFPIQYPDIWKMYKQAQASFWTAEEVD      1 - 70
LSKDLPHWNKLKADEKYFISHILAFFAASDGIVNENLVERFSQEVQVPEARCFYGFQILIENVHSEMYSL     71 - 140
LIDTYIRDPKKREFLFNAIETMPYVKKKADWALRWIADRKSTFGERVVAFAAVEGVFFSGSFAAIFWLKK    141 - 210
RGLMPGLTFSNELISRDEGLHCDFACLMFQYLVNKPSEERVREIIVDAVKIEQEFLTEALPVGLIGMNCI    211 - 280
LMKQYIEFVADRLLVELGFSKVFQAENPFDFMENISLEGKTNFFEKRVSEYQRFAVMAETTDNVFTLDAD    281 - 350
F//

Text Mined References (63)

PMID Year Title