Property Summary

NCBI Gene PubMed Count 77
PubMed Score 84.45
PubTator Score 276.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Norrie disease 14 7.376 3.7
EXUDATIVE VITREORETINOPATHY 2, X-LINKED 1 0.0 0.0
Disease Target Count
Exudative vitreoretinopathy 15
Retinal Detachment 51
Abnormality of cochlea 6
Abnormality of the retinal vasculature 59
Abnormally small eyeball 97
Aggressive behavior 75
Aggressive reaction 75
Anterior chamber synechiae 1
Anxiety 136
Anxiety disease 113
Aplasia/Hypoplasia of the lens 1
Blind Vision 111
Blindness, Legal 110
Cataract 297
Chorioretinal abnormality 21
Cloudy cornea 33
Congenital retinal fold 3
Corneal stromal opacities 33
Decreased size of eyeball 97
Dementia 175
Disorder of macula of retina 6
Enophthalmos 75
Epilepsy 792
Erectile abnormalities 16
Exudative Vitreoretinopathy, Familial, X-Linked Recessive 1
Exudative retinopathy 4
Exudative vitreoretinopathy 1 5
Eye Neoplasms 1
Glaucoma 239
Hallucinations 34
Hallucinations, Sensory 33
Hypoplasia of iris 10
Intraretinal exudate 1
Irritation - emotion 68
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Macrotia 87
Microphthalmos 100
Narrow nose 20
Neoplasms, Vascular Tissue 1
Nystagmus 317
Optic Atrophy 242
Orbital separation diminished 23
Peripheral vitreous opacities 1
Physical aggression 76
Pinched bridge of nose 14
Pinched nasal bridge 14
Progressive mental retardation 37
Psychotic Disorders 151
Reduced visual acuity 63
Retinal Dysplasia 11
Retinal fold (finding) 1
Schizophrenia 1160
Sclerocornea 29
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Shallow anterior chamber of eye 4
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Strabismus 270
Subretinal exudate 1
Sunken eyes 63
Vascular Neoplasms 1
Venous insufficiency 9
X- linked recessive 110
Disease Target Count Z-score Confidence
Coats disease 13 5.195 2.6
Blindness 88 4.09 2.0
Leukocoria 10 3.219 1.6

Expression

  Differential Expression (6)

Gene RIF (45)

AA Sequence

MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCS      1 - 70
QASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS            71 - 133
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Text Mined References (88)

PMID Year Title