Property Summary

NCBI Gene PubMed Count 86
PubMed Score 438.40
PubTator Score 263.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Night Blindness 101
Abnormality of retinal pigmentation 111
Abnormality of the retinal vasculature 59
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
Cerebellar vermis aplasia or hypoplasia 12
Cerebellar vermis aplasia/ hypoplasia 12
Cerebellar vermis hypoplasia 24
Conductive hearing loss 123
Congenital anomaly of testis 52
Congenital cerebral hernia 21
Congenital hypoplasia of penis 176
Decreased amplitudes on flash visual electroretinogram 13
Difficulties with night vision 87
Dull intelligence 645
Electroretinogram abnormal 95
Epilepsy 792
Eye poking 2
Fundus atrophy 2
Glaucoma 239
Hemiplegia and hemiparesis 38
Hyperinsulinism 133
Hypogonadism 173
Intellectual disability 1016
Keratoconus 113
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 1
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
Nasal bridge wide 236
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Optic disc abnormalities 12
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 early childhood onset retinal dystrophy 4
Severe visual impairment 16
Visual Impairment 174
Disease Target Count P-value
psoriasis 6694 7.4e-13
adult high grade glioma 3801 2.8e-05
facioscapulohumeral dystrophy 288 1.0e-04
ependymoma 4679 2.6e-04
astrocytic glioma 2597 5.2e-04
glioblastoma 5792 2.1e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Fundus albipunctatus 10 0.0 5.0

Expression

  Differential Expression (6)

Disease log2 FC p
adult high grade glioma 2.100 2.8e-05
astrocytic glioma 2.700 5.2e-04
ependymoma 2.000 2.6e-04
facioscapulohumeral dystrophy 2.400 1.0e-04
glioblastoma 1.200 2.1e-02
psoriasis -1.600 7.4e-13

Protein-protein Interaction (3)

Gene RIF (64)

AA Sequence

MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKF      1 - 70
DFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVG     71 - 140
EDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIP    141 - 210
PLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFE    211 - 280
SNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENW    281 - 350
EEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ    351 - 420
INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVV    421 - 490
VSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS                               491 - 533
//

Text Mined References (97)

PMID Year Title