Property Summary

NCBI Gene PubMed Count 32
PubMed Score 960.62
PubTator Score 100.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Cholestasis 155
Abnormal respiratory patterns 20
Abnormal urinary amino-acid findings 38
Abnormality of the abdominal wall 10
Acidosis, Lactic 97
Adult Fanconi syndrome 12
Alopecia 115
Aminoaciduria 38
Anhidrosis 23
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Blepharoptosis 231
Blood Coagulation Disorders 42
Brittle hair 25
CSF lactate increased 33
Cataract 297
Central nervous system demyelination 28
Cerebellar Ataxia 304
Cerebellar degeneration 103
Cerebral atrophy 178
Cholangitis 32
Coarse hair 31
Cognitive delay 608
Congenital deafness 185
Deafness 198
Death in early adulthood 24
Decreased liver function 24
Decreased mitochondrial complex III activity in liver tissue 1
Degenerative brain disorder 100
Depressive disorder 409
Dry hair 7
Dull intelligence 645
Dysarthria 192
Dystonia 164
Dystonic disease 106
Electroencephalogram abnormal 101
Elevated hepatic transaminases 81
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fractured hair 25
Fragile hair 25
GRACILE SYNDROME (disorder) 1
Gliosis 56
Global developmental delay 608
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes 1
Hallucinations 34
Hallucinations, Sensory 33
Hearing Loss, Partial 185
Hepatic enzyme increased 81
Hepatocellular necrosis 14
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hyperferritinaemia 14
Hyperreflexia 209
Hypertrichosis 46
Hypertrophic Cardiomyopathy 117
Hypoglycemia 152
Hypogonadism 173
Impaired exercise tolerance 42
Increased ferritin 14
Increased serum lactate 60
Increased serum pyruvate 9
Infant, Small for Gestational Age 176
Infantile onset 238
Infratentorial atrophy 103
Intellectual disability 1016
Intrauterine retardation 176
Lactic acidemia 95
Lactic acidosis, chronic 2
Lens Opacities 231
Liver Cirrhosis 181
Liver Dysfunction 99
Liver dysfunction, mild 24
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Liver iron concentration increased 2
Low intelligence 645
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 3
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metabolic acidosis 90
Microvesicular steatosis (disorder) 6
Mitochondrial encephalopathy 1
Mood swings 77
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
Nephritis, Tubulointerstitial 8
Nystagmus 317
Ophthalmoplegia 106
Optic Atrophy 242
Pediatric failure to thrive 365
Phenotypic variability 150
Pili Torti 6
Pili torti-deafness syndrome 1
Poor school performance 645
Progressive disorder 142
Ragged-red fibers 21
Reduced tensile strength of hair 25
Respiratory Failure 104
Retinitis Pigmentosa 226
Rhabdomyolysis 15
Rough hair texture 31
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Serum ferritin increased 14
Serum iron raised 2
Steatohepatitis 44
Strabismus 270
Subclinical abnormal liver function tests 81
Supratentorial atrophy 94
Transaminases increased 81
Transferrin saturation decreased 1
Variable expressivity 157
hearing impairment 199
Disease Target Count P-value
ovarian cancer 8520 6.6e-06
lung cancer 4740 8.6e-04

Expression

  Differential Expression (2)

Disease log2 FC p
lung cancer 1.100 8.6e-04
ovarian cancer 1.500 6.6e-06

 GO Function (1)

Gene RIF (15)

AA Sequence

MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSYAWLLSWLTRH      1 - 70
STRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSREMQMIDLQTGTPWESVTFTAL     71 - 140
GTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFGYPRRRRPLNSVVLQQGLADRIVRDVQEFID    141 - 210
NPKWYTDRGIPYRRGYLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVL    211 - 280
LEDVDAAFLSRDLAVENPVKYQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLK    281 - 350
EYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR     351 - 419
//

Text Mined References (36)

PMID Year Title