Property Summary

NCBI Gene PubMed Count 89
PubMed Score 156.19
PubTator Score 130.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
AICARDI-GOUTIERES SYNDROME 1 5
Abnormal behavior 52
Abnormality of the musculature of the lower limbs 1
Abnormality of the retinal vasculature 59
Acrocyanosis 7
Adult onset 82
Apraxias 27
Arhinencephaly 5
Arthralgia 90
Autosomal recessive predisposition 1442
Axial hypotonia 46
Basal ganglia calcification 27
Central nervous system degeneration 2
Cerebral atrophy 178
Cerebrovascular accident 63
Chilblain lesions 2
Chronic CSF lymphocytosis 1
Cognitive delay 608
Coloboma of eyelid 15
Decreased platelet count 111
Decreased visual acuity, progressive 36
Deep white matter hypodensities 1
Degenerative brain disorder 100
Dementia 175
Dysarthria 192
Dystonia 164
Dystonic disease 106
ESR raised 20
Elevated hepatic transaminases 81
Encephalopathy, progressive 6
Epilepsy 792
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Feeding difficulties in infancy 175
Fever 138
Focal white matter lesions 3
Global developmental delay 608
Hematuria 36
Hemiparesis 34
Hemiplegia and hemiparesis 38
Hepatic enzyme increased 81
Hepatosplenomegaly 22
Increased CSF alpha-interferon 1
Influenza 142
Intermittent migraine headaches 68
Leukodystrophy 55
Leukoencephalopathies 29
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Low Vision 174
Lower limb hyperreflexia 10
Macular retinal edema 13
Mental and motor retardation 608
Mental deterioration 32
Migraine Disorders 76
Morphological abnormality of the pyramidal tract 12
Muscle Spasticity 195
Neonatal Jaundice 30
Nystagmus 317
Pain in limb 2
Periventricular white matter abnormalities 8
Petechiae 13
Pigmentary retinal degeneration 11
Polyposis, Gastric 4
Poor head control 14
Porencephaly 20
Profound Mental Retardation 31
Profound intellectual disabilities 31
Progressive brain disease 6
Progressive disorder 142
Progressive forgetfulness 1
Progressive microcephaly 32
Progressive visual loss 36
Prolonged neonatal jaundice 17
Proteinuria 144
Punctate vasculitis skin lesions 1
Purpura 43
Pyramidal tract disease 12
Retinal Diseases 55
Retinal Hemorrhage 6
Retinal exudates 11
Seizures 596
Skin Ulcer 48
Spider Veins 17
Strabismus 270
Subclinical abnormal liver function tests 81
Supratentorial atrophy 94
Telangiectasis 36
Thrombocytopenia 197
Transaminases increased 81
Vasculitis of the skin 2
Visual Impairment 174
Disease Target Count P-value
osteosarcoma 7950 1.2e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.279 1.2e-05

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (60)

AA Sequence

MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLC      1 - 70
VAPGKACSPAASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAM     71 - 140
LGLTSALDGAFCVDSITALKALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQW    141 - 210
RPQALLRWVDAHARPFGTIRPMYGVTASARTKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPG    211 - 280
ALSREGLLAPLGLLAILTLAVATLYGLSLATPGE                                        281 - 314
//

Text Mined References (94)

PMID Year Title