Property Summary

NCBI Gene PubMed Count 473
PubMed Score 2035.03
PubTator Score 1503.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

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
Anteverted nostril 191
Aplasia/Hypoplasia of the macula 8
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
Bull's eye macular dystrophy 1
CONE-ROD DYSTROPHY 12 (disorder) 1
Cataract 297
Choroid Diseases 7
Color vision defect 33
Color vision defect, severe 31
Conductive hearing loss 123
Cone dystrophy 71
Cone/cone-rod dystrophy 20
Congenital anomaly of testis 52
Congenital hypoplasia of penis 176
Difficulties with night vision 87
Dull intelligence 645
Dyschromatopsia 8
Electroretinogram abnormal 95
Extinguished electroretinogram 15
Glaucoma 239
Granular macular appearance 1
Hyperinsulinism 133
Hypogonadism 173
Intellectual disability 1016
Keratoconus 113
Lens Opacities 231
Loss of retinal pigment epithelium 10
Low intelligence 645
Macular degeneration 65
Macular dystrophy 8
Macular pigmentary changes 16
Major Depressive Disorder 301
Mental Retardation 645
Mental deficiency 645
Nasal bridge wide 236
Night Blindness 101
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Perifoveal ring of hyperautofluorescence 1
Photodysphoria 121
Photophobia 121
Poor school performance 645
RETINITIS PIGMENTOSA 41 (disorder) 1
Reduced visual acuity 63
Retinal flecking 7
Retinal pigment epithelial abnormality 111
Retinal thinning 7
Salt and pepper retinal pigmentation 8
Scotoma, Central 21
Sensorineural Hearing Loss (disorder) 284
Stargardt's disease 6
Unipolar Depression 250
Yellow/white lesions of the macula 5
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Dental caries 164 0.0 1.7

Expression

  Differential Expression (22)

Disease log2 FC p
glioblastoma 2.200 1.5e-03
acute myeloid leukemia -2.100 3.9e-02
adult high grade glioma 1.800 8.7e-03
Barrett's esophagus 2.500 2.5e-02
Breast cancer -4.100 8.2e-08
breast carcinoma -1.500 8.5e-03
ependymoma 2.900 7.3e-10
esophageal adenocarcinoma 2.200 2.7e-02
interstitial cystitis -2.900 2.0e-03
intraductal papillary-mucinous adenoma (... 2.000 3.4e-03
intraductal papillary-mucinous neoplasm ... 2.600 6.6e-03
invasive ductal carcinoma -1.934 3.3e-02
lung adenocarcinoma 1.300 6.1e-03
lung cancer 4.700 1.4e-06
malignant mesothelioma 1.900 2.9e-06
mucosa-associated lymphoid tissue lympho... -1.269 4.0e-02
nasopharyngeal carcinoma -2.900 9.2e-04
osteosarcoma -4.003 7.1e-04
ovarian cancer 2.200 6.3e-03
pancreatic cancer 1.500 7.5e-03
psoriasis -2.200 7.2e-04
ulcerative colitis -1.200 3.5e-02

Gene RIF (438)

AA Sequence

MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRD      1 - 70
FPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCG     71 - 140
GEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPE    141 - 210
QIKYILAQYNTTKDKAFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSL    211 - 280
HQQSTQLSSSLTSVKTSLRSSLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLR    281 - 350
TDLDGLVQQGYQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYI    351 - 420
HRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLS    421 - 490
FLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVY    491 - 560
SDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELESLKVNLNIFLLGAAGRKNLQDFAACGIDRMN    561 - 630
YDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVK    631 - 700
ILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKP    701 - 770
VATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNME    771 - 840
NGNNGYHKDHVYGIHNPVMTSPSQH                                                 841 - 865
//

Text Mined References (478)

PMID Year Title