Property Summary

NCBI Gene PubMed Count 55
PubMed Score 272.04
PubTator Score 170.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Cone dystrophy 71
Abnormal color vision 31
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
Chorioretinal atrophy 11
Color vision defect 33
Color vision defect, severe 31
Conductive hearing loss 123
Cone/cone-rod dystrophy 20
Congenital anomaly of testis 52
Congenital cerebral hernia 21
Congenital hypoplasia of penis 176
Difficulties with night vision 87
Dull intelligence 645
Electroretinogram abnormal 95
Epilepsy 792
Extinguished electroretinogram 15
Glaucoma 239
Hemiplegia and hemiparesis 38
Hyperinsulinism 133
Hypogonadism 173
Intellectual disability 1016
Keratoconus 113
Lens Opacities 231
Loss of peripheral vision 5
Low Vision 174
Low intelligence 645
Malformations of Cortical Development, Group II 31
Mental Retardation 645
Mental deficiency 645
Muscle hypotonia 571
Nasal bridge wide 236
Night Blindness 101
Night blindness, progressive 51
Nystagmus 317
Nystagmus, continuous pendular 14
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Optic disc abnormalities 12
Pendular Nystagmus 14
Photodysphoria 121
Photophobia 121
Poor school performance 645
Reduced visual acuity 63
Retinal pigment epithelial abnormality 111
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe visual impairment 16
Tunnel visual field constriction 5
Visual Impairment 174
Visual field constriction 36
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

Gene RIF (29)

AA Sequence

MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAKTQYPDVYARE      1 - 70
EVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISD     71 - 140
SYSPPLPGPSGSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGS    141 - 210
PSSYFSGLDPYLSPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTY    211 - 280
NPMDPLDYKDQSAWKFQIL                                                       281 - 299
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Text Mined References (61)

PMID Year Title