Property Summary

NCBI Gene PubMed Count 40
PubMed Score 48.33
PubTator Score 45.84

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
LEBER CONGENITAL AMAUROSIS 15 2 0.0 0.0
Retinitis pigmentosa 14 7 0.0 0.0
Disease Target Count
Night Blindness 101
Abnormal color vision 31
Abnormal visual pursuit 14
Abnormality of retinal pigmentation 111
Abnormality of the retinal vasculature 59
Anteverted nostril 191
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Blind Vision 111
Blindness, Legal 110
Broad flat nasal bridge 236
Cataract 297
Cerebellar vermis aplasia or hypoplasia 12
Cerebellar vermis aplasia/ hypoplasia 12
Color vision defect 33
Color vision defect, severe 31
Conductive hearing loss 123
Congenital anomaly of testis 52
Congenital cerebral hernia 21
Congenital hypoplasia of penis 176
Congenital nystagmus 26
Difficulties with night vision 87
Dull intelligence 645
Electroretinogram abnormal 95
Epilepsy 792
Glaucoma 239
Hemiplegia and hemiparesis 38
Hyperinsulinism 133
Hypogonadism 173
Impaired smooth pursuit 14
Intellectual disability 1016
Keratoconus 113
Lens Opacities 231
Low Vision 174
Low intelligence 645
Malformations of Cortical Development, Group II 31
Mental Retardation 645
Mental deficiency 645
Muscle hypotonia 571
Myopia 176
Nasal bridge wide 236
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Optic disc abnormalities 12
Pallor of optic disc 39
Photodysphoria 121
Photophobia 121
Poor school performance 645
Retinal Degeneration 106
Retinal pigment epithelial abnormality 111
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe visual impairment 16
Slow pupillary light response 1
Visual Impairment 174
Visual field constriction 36
Disease Target Count P-value
medulloblastoma, large-cell 6241 4.6e-03
group 3 medulloblastoma 4104 5.4e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Liver Cirrhosis 181 0.0 2.0
Disease Target Count Z-score Confidence
cone-rod dystrophy 59 4.384 2.2

Expression

  Differential Expression (2)

Disease log2 FC p
group 3 medulloblastoma 1.900 5.4e-03
medulloblastoma, large-cell 1.600 4.6e-03

Gene RIF (18)

AA Sequence

MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPRKPGAGRTGRP      1 - 70
REEPSPDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEEEEEDEEDEEEEAEEKKEKIL     71 - 140
LPPKKPLREKSSADLKERRAKAQGPRGDLGSPDPPPKPLRVRNKEAPAGEGTKMRKTKKKGSGEADKDPS    141 - 210
GSPASARKSPAAMFLVGEGSPDKKALKKKGTPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEER    211 - 280
APSPPVEVDEPREFVLRPAPQGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKVFLLAGRKRKRSKTANY    281 - 350
LISIDPTNLSRGGENFIGKLRSNLLGNRFTVFDNGQNPQRGYSTNVASLRQELAAVIYETNVLGFRGPRR    351 - 420
MTVIIPGMSAENERVPIRPRNASDGLLVRWQNKTLESLIELHNKPPVWNDDSGSYTLNFQGRVTQASVKN    421 - 490
FQIVHADDPDYIVLQFGRVAEDAFTLDYRYPLCALQAFAIALSSFDGKLACE                      491 - 542
//

Text Mined References (40)

PMID Year Title