Property Summary

NCBI Gene PubMed Count 143
PubMed Score 478.60
PubTator Score 288.30

Knowledge Summary

Patent (14,174)

TINX Plot

  Disease (8)

Disease Target Count
Abnormal color vision 31
Abnormality of chorioretinal pigmentation 1
Abnormality of retinal pigmentation 111
Abnormality of the retinal vasculature 59
Adult-Onset Vitelliform Macular Dystrophy 4
Anteverted nostril 191
Attenuation of retinal blood vessels 16
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Blind Vision 111
Blindness, Legal 110
Broad flat nasal bridge 236
Cataract 297
Cataract, Pulverulent 11
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
Corneal diameter decreased 47
Cystoid macular retinal degeneration 2
Decreased amplitudes on flash visual electroretinogram 13
Difficulties with night vision 87
Dull intelligence 645
Electroretinogram abnormal 95
Glaucoma 239
Hyperinsulinism 133
Hyperopia 70
Hypogonadism 173
Intellectual disability 1016
Keratoconus 113
Lens Opacities 231
Loss of retinal pigment epithelium 10
Low Vision 174
Low intelligence 645
Macular dystrophy 8
Mental Retardation 645
Mental deficiency 645
Metamorphopsia 2
Microcornea 47
Narrowing of retinal arterioles 2
Nasal bridge wide 236
Night Blindness 101
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Pallor of optic disc 39
Photodysphoria 121
Photophobia 121
Pigmentary iris degeneration 20
Poor school performance 645
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 1
Reduced visual acuity 63
Retinal Detachment 51
Retinal arteriolar occlusion 1
Retinal flecking 7
Retinal pigment epithelial abnormality 111
Sensorineural Hearing Loss (disorder) 284
Strabismus 270
VITREORETINOCHOROIDOPATHY (disorder) 1
Visual Impairment 174
Visual field defects 19
Vitelliform-like macular lesions 4
Vitreous Hemorrhage 6
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 1.2
Disease Target Count Z-score Confidence
Age related macular degeneration 72 0.0 5.0

Expression

  Differential Expression (7)

Disease log2 FC p
atypical teratoid/rhabdoid tumor -1.300 2.3e-05
group 4 medulloblastoma -1.200 3.1e-03
lung cancer -1.400 6.0e-04
malignant mesothelioma -1.100 3.5e-06
osteosarcoma 1.570 1.4e-06
ovarian cancer -1.100 7.0e-05
tuberculosis and treatment for 6 months -1.400 2.2e-05

Gene RIF (113)

AA Sequence

MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQLMFEKLTLYCD      1 - 70
SYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLIL     71 - 140
RSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSL    141 - 210
LNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQ    211 - 280
FFFYVGWLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAA    281 - 350
SAQFRRASFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL    351 - 420
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLH    421 - 490
SVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSP    491 - 560
TNIHTTLKDHMDPYWALENRDEAHS                                                 561 - 585
//

Text Mined References (143)

PMID Year Title