Property Summary

NCBI Gene PubMed Count 287
PubMed Score 1458.57
PubTator Score 805.89

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Retinal Detachment 51
Cataract 297
Glaucoma 239
Congenital nystagmus 26
Amblyopia 38
Abnormal vision 52
Abnormality of retinal pigmentation 111
Abnormality of vision 40
Aniridia type 2 1
Aplasia/Hypoplasia of the iris 10
Aplasia/Hypoplasia of the macula 8
Autosomal recessive predisposition 1442
Blepharoptosis 231
Cerebellar Ataxia 304
Cerebellar Hypoplasia 61
Clouding of corneal stroma 50
Cloudy cornea 33
Cognitive delay 608
Coloboma of eyelid 15
Coloboma of lens 4
Coloboma of optic disc 9
Congenital coloboma of iris 4
Congenital ectopic pupil 7
Congenital neurologic anomalies 20
Congenital ocular coloboma (disorder) 40
Contiguous gene syndrome 2
Corneal Opacity 53
Corneal stromal opacities 33
Cryptorchidism 296
Deletion 11p13 3
Diabetes Mellitus, Non-Insulin-Dependent 145
Disorder of the optic nerve 1
Displacement of the external urethral meatus 3
Dull foveal reflex 9
Dull intelligence 645
Everted lower lip vermilion 54
Explosive speech 9
FOVEAL HYPOPLASIA 1 1
Foveal hypoplasia (finding) 9
Generalized hyperpigmentation 22
Global developmental delay 608
Hearing abnormality 12
Hereditary macular coloboma 5
Hydrophthalmos 19
Hypoplasia of the optic nerve 17
Hypoplastic mandible condyle 275
Irido-corneo-trabecular dysgenesis (disorder) 10
Keratitis 62
Lens Opacities 231
Low Vision 174
Low intelligence 645
Mandibular hypoplasia 275
Mask-like facies 25
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Movement Disorders 55
Muscle hypotonia 571
Nephroblastoma 51
Nystagmus 317
Optic Atrophy 242
Optic disc abnormalities 12
Optic nerve aplasia 3
Penile hypospadias 106
Poor school performance 645
Presenile cataract 1
Protruding lower lip 54
Reduced visual acuity 63
Retinal pigment epithelial abnormality 111
Scanning speech 9
Schizophrenia 1160
Short stature 531
Small head 374
Somatic mutation 61
Strabismus 270
Streak ovary 15
Vaginal malformation 7
Visual Impairment 174
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Microphthalmia 76 5.621 2.8
Coloboma 51 5.588 2.8
Disease Target Count Z-score Confidence
Corneal disease 31 0.0 4.0

Expression

  Differential Expression (9)

Disease log2 FC p
Astrocytoma, Pilocytic -2.200 7.7e-06
atypical teratoid/rhabdoid tumor -1.400 2.8e-02
Breast cancer 1.700 5.4e-04
ependymoma 1.400 2.7e-02
glioblastoma -1.200 9.8e-03
group 3 medulloblastoma -1.900 1.0e-02
malignant mesothelioma 4.000 1.8e-08
medulloblastoma, large-cell -1.900 6.0e-03
pituitary cancer -2.000 2.9e-06

 GWAS Trait (1)

Gene RIF (225)

AA Sequence

MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRA      1 - 70
IGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGAD     71 - 140
GMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKL    141 - 210
QRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASN    211 - 280
TPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQ    281 - 350
TSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR    351 - 420
LQ                                                                        421 - 422
//

Text Mined References (289)

PMID Year Title