Property Summary

Ligand Count 6
NCBI Gene PubMed Count 1
PubMed Score 1074.34
PubTator Score 272.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Dystonia 164
Abdominal Pain 98
Abnormal vision 52
Abnormality of mitochondrial metabolism 9
Acidosis, Lactic 97
Anorexia 43
Anxiety 136
Anxiety disease 113
Attention deficit hyperactivity disorder 278
Blepharoptosis 231
Blind spot located at fixation point 21
Blurred vision 19
Brain Ischemia 110
Cachexia 50
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Central retinal vessel vascular tortuosity 9
Cerebellar Ataxia 304
Cerebellar hypoplasia and atrophy 41
Cerebral Ischemia 37
Cerebral atrophy 178
Cerebral calcification 43
Clonus 18
Conduction disorder of the heart 79
Creatine phosphokinase serum increased 110
Death in early adulthood 24
Decreased nerve conduction velocity 35
Decreased visual acuity, slowly progressive 13
Depressive disorder 409
Developmental regression 95
Diabetes Mellitus, Non-Insulin-Dependent 145
Disturbance of consciousness 12
Dystonic disease 106
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electromyogram abnormal 49
Elevated creatine kinase 110
Fatigue 182
Forgetful 40
Hallucinations 34
Hallucinations, Sensory 33
Hemianopsia 15
Increased serum lactate 60
Intermittent migraine headaches 68
Lactic acidemia 95
Loss of developmental milestones 95
MELAS syndrome 18
Maternally Inherited Leigh Syndrome 7
Memory Loss 40
Memory impairment 40
Mental deterioration in childhood 95
Migraine Disorders 76
Mitochondrial Myopathies 21
Mitochondrial respiratory chain defects 15
Muscle Weakness 170
Myopathy 185
Nausea and vomiting 97
Neurodevelopmental regression 95
Optic Atrophy 242
Optic Neuropathy 12
Pancreatitis 123
Peripheral Neuropathy 134
Polyneuropathy 64
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Ragged-red fibers 21
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal telangiectasia 12
Scotoma, Central 21
Scotoma, Centrocecal 11
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Slow decrease in visual acuity 13
Static Tremor 21
Tonic - clonic seizures 44
Tortuous retinal vessels 15
Disease Target Count P-value
osteosarcoma 7950 3.0e-06
Disease Target Count Z-score Confidence
Leigh disease 100 4.855 2.4
Mitochondrial complex I deficiency 46 0.0 5.0
Disease Target Count Z-score Confidence
Leber hereditary optic neuropathy 14 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.102 3.0e-06

Gene RIF (47)

AA Sequence

MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTT      1 - 70
WLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQP     71 - 140
ERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLY    141 - 210
GLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQT    211 - 280
DLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQT    281 - 350
LLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLT    351 - 420
HHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS                                   421 - 459
//

Text Mined References (21)

PMID Year Title