Property Summary

Ligand Count 1
NCBI Gene PubMed Count 34
PubMed Score 475.23
PubTator Score 33.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal mitochondria in muscle tissue 20
Abnormal respiratory patterns 20
Acidosis, Lactic 97
Acute necrotizing encephalopathy 14
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Babinski Reflex 100
Blepharoptosis 231
Blind Vision 111
Blindness, Legal 110
Brain Edema 50
CSF lactate increased 33
Central nervous system demyelination 28
Cerebellar Ataxia 304
Cerebellar degeneration 103
Cerebral Edema 30
Cognitive delay 608
Comatose 56
Decreased tendon reflex 122
Developmental regression 95
Dull intelligence 645
Dysarthria 192
Dystonia 164
Dystonic disease 106
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Gliosis 56
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hepatocellular necrosis 14
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperreflexia 209
Hypertrichosis 46
Hypertrophic Cardiomyopathy 117
Hypoglycemia 152
Impaired exercise tolerance 42
Increased serum lactate 60
Infantile onset 238
Infratentorial atrophy 103
Intellectual disability 1016
Lactic acidemia 95
Lethargy 77
Leukodystrophy 55
Liver Failure 73
Loss of developmental milestones 95
Low intelligence 645
Mammary Neoplasms 425
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mood swings 77
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
NADH:Q(1) Oxidoreductase deficiency 24
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Nystagmus 317
Ophthalmoplegia 106
Pallor of optic disc 39
Pediatric failure to thrive 365
Phenotypic variability 150
Poor growth 114
Poor school performance 645
Progressive disorder 142
Progressive macrocephaly 18
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Respiratory Failure 104
Retinitis Pigmentosa 226
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Skeletal muscle atrophy 139
Strabismus 270
Very poor growth 114
Vomiting 116
X-linked dominant 57
muscle degeneration 139
Disease Target Count P-value
ovarian cancer 8520 5.7e-05
Multiple myeloma 1332 1.7e-04
osteosarcoma 7950 8.2e-04
Disease Target Count Z-score Confidence
Tungiasis 2 3.322 1.7
Cancer 2499 3.042 1.5

Expression

  Differential Expression (3)

Disease log2 FC p
Multiple myeloma 1.235 1.7e-04
osteosarcoma -1.186 8.2e-04
ovarian cancer 1.800 5.7e-05

Gene RIF (12)

AA Sequence

MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSAFGEYVAEILP      1 - 70
KYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVPTRQNRFEIVYNLLSLRFNSR     71 - 140
IRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFANHPDLRRILTDYGFEGHPFRKDFPLSGYVEL    141 - 210
RYDDEVKRVVAEPVELAQEFRKFDLNSPWEAFPVYRQPPESLKLEAGDKKPDAK                    211 - 264
//

Text Mined References (39)

PMID Year Title