Property Summary

Ligand Count 1
NCBI Gene PubMed Count 1
PubMed Score 526.02
PubTator Score 232.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
MELAS syndrome 18 0.0 4.0
Optic Atrophy, Hereditary, Leber 14 0.0 0.0
Disease Target Count
Leigh disease 100
Wolff-Parkinson-White syndrome 19
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
Blindness, Cortical 24
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
Congenital Bilateral Cataracts 50
Congenital cataract 50
Congestive heart failure 113
Cortical visual impairment 24
Creatine phosphokinase serum increased 110
Death in early adulthood 24
Decreased nerve conduction velocity 35
Decreased visual acuity, slowly progressive 13
Dementia 175
Depressive disorder 409
Developmental regression 95
Diabetes Mellitus, Non-Insulin-Dependent 145
Disturbance of consciousness 12
Dystonia 164
Dystonic disease 106
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electromyogram abnormal 49
Elevated creatine kinase 110
Encephalopathies 43
Epilepsies, Myoclonic 32
Episodic vomiting 10
Fatigue 182
Forgetful 40
Frequent vomiting 10
Generalized myoclonic seizures 30
Hallucinations 34
Hallucinations, Sensory 33
Hearing loss, progressive sensorineural 23
Heart failure 162
Hemianopsia 15
Hemiparesis 34
Highly variable severity 157
Hypertensive disease 292
Impaired cognition 96
Increase in blood pressure 119
Increased serum lactate 60
Intermittent migraine headaches 68
Lactic acidemia 95
Left Ventricular Hypertrophy 47
Lipoma 32
Loss of developmental milestones 95
MERRF syndrome 6
Maternally Inherited Leigh Syndrome 7
Memory Loss 40
Memory impairment 40
Mental deterioration in childhood 95
Mental impairment 95
Migraine Disorders 76
Mitochondrial Myopathies 21
Mitochondrial complex I deficiency 46
Mitochondrial respiratory chain defects 15
Movement Disorders 55
Multiple lipomata 7
Muscle Weakness 170
Myoclonic Epilepsies, Progressive 44
Myopathy 185
Nausea and vomiting 97
Neurodevelopmental regression 95
Ophthalmoplegia 106
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
Sensorineural hearing loss, bilateral 18
Short stature 531
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
Disease Target Count P-value
ovarian cancer 8520 3.1e-05
group 3 medulloblastoma 4104 5.1e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Endometrial cancer 311 0.0 0.8
Disease Target Count Z-score Confidence
Leber hereditary optic neuropathy 14 0.0 4.0

Expression

  Differential Expression (2)

Disease log2 FC p
group 3 medulloblastoma -1.300 5.1e-04
ovarian cancer -1.500 3.1e-05

Protein-protein Interaction (1)

Gene RIF (49)

AA Sequence

MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWAT      1 - 70
TQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQL     71 - 140
FIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSL    141 - 210
TPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCL    211 - 280
GAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNL    281 - 350
NNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTS    351 - 420
AYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTA    421 - 490
LAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEK    491 - 560
LLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT                               561 - 603
//

Text Mined References (25)

PMID Year Title