Property Summary

NCBI Gene PubMed Count 23
PubMed Score 261.68
PubTator Score 17.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Congenital disorder of glycosylation type 1E 1 0.0 0.0
Disease Target Count
Abnormality of vision 40
Ankle contracture 9
Antithrombin III deficiency 14
Autosomal recessive predisposition 1442
Blindness, Cortical 24
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 1
Cerebellar Ataxia 304
Concave bridge of nose 195
Congenital Camptodactyly 40
Cortical visual impairment 24
Creatine phosphokinase serum increased 110
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Disorder of macula of retina 6
Downward slant of palpebral fissure 158
Electroencephalogram abnormal 101
Elevated creatine kinase 110
Elevated hepatic transaminases 81
Epilepsy 792
Failure to gain weight 365
Flat back of the head 26
Flat occiput 26
Global developmental delay, severe 47
Hemangioma 69
Hepatic enzyme increased 81
Hepatomegaly 285
High, narrow palate 32
Highly variable severity 157
Hypoplasia involving bones of the upper limbs 3
Hypoplastic mandible condyle 275
Infantile onset 238
Isoelectric focusing of serum transferrin consistent with CDG type I 10
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Lower limb hyperreflexia 10
Mandibular hypoplasia 275
Micrognathism 275
Muscle biopsy shows dystrophic changes 39
Muscle hypotonia 571
Muscular dystrophy 75
Nail dysplasia 52
Nystagmus 317
Optic Atrophy 242
Orbital separation excessive 244
Partial thromboplastin time increased (finding) 11
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Pontocerebellar atrophy 2
Postnatal microcephaly 24
Progressive disorder 142
Protein C deficiency 19
Protein S deficiency 6
Reduced protein S activity 2
Respiratory distress 43
Retinal Diseases 55
Seizures 596
Severe psychomotor retardation 47
Short hands 50
Small hand 36
Small head 374
Smooth philtrum 43
Spider Veins 17
Splenomegaly 190
Strabismus 270
Subclinical abnormal liver function tests 81
Telangiectasis 36
Transaminases increased 81
Tremor 113
Variable expressivity 157
Disease Target Count P-value
psoriasis 6694 8.7e-05
Multiple myeloma 1332 3.0e-03

Expression

  Differential Expression (2)

Disease log2 FC p
Multiple myeloma 1.125 3.0e-03
psoriasis 1.400 8.7e-05

Gene RIF (1)

AA Sequence

MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDG      1 - 70
TRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNF     71 - 140
DIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQ    141 - 210
MEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT                        211 - 260
//

Text Mined References (31)

PMID Year Title