Property Summary

NCBI Gene PubMed Count 1
PubMed Score 5856.48
PubTator Score 2675.29

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
MELAS syndrome 18 0.0 0.0
Optic Atrophy, Hereditary, Leber 14 0.0 0.0
Disease Target Count
Myopathy 185
Wolff-Parkinson-White syndrome 19
Abnormal vision 52
Acidosis, Lactic 97
Blind spot located at fixation point 21
Blindness, Cortical 24
Blurred vision 19
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Central retinal vessel vascular tortuosity 9
Cerebellar Ataxia 304
Conduction disorder of the heart 79
Congenital Bilateral Cataracts 50
Congenital cataract 50
Congestive heart failure 113
Cortical visual impairment 24
Decreased visual acuity, slowly progressive 13
Dementia 175
Dystonia 164
Dystonic disease 106
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Encephalopathies 43
Episodic vomiting 10
Frequent vomiting 10
Hearing loss, progressive sensorineural 23
Heart failure 162
Hemianopsia 15
Hemiparesis 34
Highly variable severity 157
Histiocytoid Cardiomyopathy 2
Hypertensive disease 292
Increase in blood pressure 119
Intermittent migraine headaches 68
Lactic acidemia 95
Left Ventricular Hypertrophy 47
Migraine Disorders 76
Mitochondrial Myopathies 21
Mitochondrial respiratory chain defects 15
Ophthalmoplegia 106
Optic Atrophy 242
Optic Neuropathy 12
Peripheral Neuropathy 134
Polyneuropathy 64
Ragged-red fibers 21
Retinal telangiectasia 12
Scotoma, Central 21
Scotoma, Centrocecal 11
Sensorineural hearing loss, bilateral 18
Slow decrease in visual acuity 13
Static Tremor 21
Stroke-like episodes 10
Tonic - clonic seizures 44
Tortuous retinal vessels 15
Variable expressivity 157
abnormal growth 26
diabetes mellitus 1728

Expression

Gene RIF (23)

AA Sequence

MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHIT      1 - 70
RDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSF     71 - 140
WGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLG    141 - 210
ITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTI    211 - 280
LRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTII    281 - 350
GQVASVLYFTTILILMPTISLIENKMLKWA                                            351 - 380
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Text Mined References (24)

PMID Year Title