Property Summary

NCBI Gene PubMed Count 87
PubMed Score 251.10
PubTator Score 461.95

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal color vision 31
Abnormal eye movements, paroxysmal 5
Abnormal visual evoked potential 26
Abnormality of macular pigmentation 16
Abnormality of retinal pigmentation 111
Abnormality of the choroid 7
Abnormality of the fovea 5
Abnormality of the retinal vasculature 59
Adult-Onset Vitelliform Macular Dystrophy 4
Adult-onset night blindness 2
Anteverted nostril 191
Aplasia/Hypoplasia of the macula 8
Atrophoderma maculatum 4
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Blind Vision 111
Blind spot located at fixation point 21
Blindness, Legal 110
Broad flat nasal bridge 236
Cataract 297
Central areolar choroidal sclerosis 2
Chorioretinal atrophy 11
Choroid Diseases 7
Choroidal sclerosis 8
Choroideremia 16
Color vision defect 33
Color vision defect, severe 31
Conductive hearing loss 123
Congenital anomaly of testis 52
Congenital hypoplasia of penis 176
Difficulties with night vision 87
Dull intelligence 645
Electroretinogram abnormal 95
Glaucoma 239
Hyperinsulinism 133
Hypogonadism 173
Intellectual disability 1016
Keratoconus 113
Lens Opacities 231
Loss of retinal pigment epithelium 10
Low Vision 174
Low intelligence 645
Macular degeneration 65
Macular dystrophy 8
Macular pigmentary changes 16
Mental Retardation 645
Mental deficiency 645
Metamorphopsia 2
Microphthalmia, Syndromic 5 3
Nasal bridge wide 236
Night Blindness 101
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Photodysphoria 121
Photophobia 121
Pigmentary iris degeneration 20
Pigmentary retinal degeneration 11
Poor school performance 645
Reduced visual acuity 63
Reticular retinal dystrophy 1
Retinal exudates 11
Retinal flecking 7
Retinal pigment epithelial abnormality 111
Retinal thinning 7
Retinitis punctata albescens (disorder) 4
Salt and pepper retinal pigmentation 8
Scotoma, Central 21
Sensorineural Hearing Loss (disorder) 284
Stargardt's disease 6
Visual Impairment 174
Visual field constriction 36
Visual field defects 19
Vitelliform-like macular lesions 4
Yellow/white lesions of the macula 5
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8

Expression

  Differential Expression (8)

Disease log2 FC p
colon cancer -1.600 2.1e-02
ependymoma -1.300 1.3e-02
facioscapulohumeral dystrophy 1.500 2.0e-02
group 3 medulloblastoma -1.100 1.1e-02
intraductal papillary-mucinous carcinoma... -1.400 6.2e-04
intraductal papillary-mucinous neoplasm ... -1.700 2.6e-03
oligodendroglioma -1.200 7.4e-03
primitive neuroectodermal tumor -1.100 3.2e-03

Gene RIF (62)

AA Sequence

MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVL      1 - 70
SCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKY     71 - 140
YRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVP    141 - 210
FSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTIT    211 - 280
IGLRYLQTSLDGVSNPEESESESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG        281 - 346
//

Text Mined References (91)

PMID Year Title