Property Summary

NCBI Gene PubMed Count 75
PubMed Score 162.29
PubTator Score 119.29

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
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
Conductive hearing loss 123
Congenital anomaly of testis 52
Congenital cerebral hernia 21
Congenital hypoplasia of penis 176
Dull intelligence 645
Electroretinogram abnormal 95
Epilepsy 792
Esotropia 31
Extinguished electroretinogram 15
Exudative retinopathy 4
Fundus with peripheral 'bony spicules' 12
Glaucoma 239
Hemiplegia and hemiparesis 38
High-grade hypermetropia 24
Hyperinsulinism 133
Hyperopia 70
Hypogonadism 173
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
Nasal bridge wide 236
Night blindness, progressive 51
Nystagmus 317
Nystagmus, continuous pendular 14
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Optic disc abnormalities 12
Paravenous chorioretinal atrophy 1
Pendular Nystagmus 14
Photodysphoria 121
Photophobia 121
Poor school performance 645
RETINITIS PIGMENTOSA 12 (disorder) 1
Retinal pigment epithelial abnormality 111
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe visual impairment 16
Visual Impairment 174
Vitreoretinal degeneration 9
Disease Target Count Z-score Confidence
Asthma 385 0.0 3.0
Disease Target Count Z-score Confidence
cone-rod dystrophy 59 4.3 2.2

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytoma 1.400 1.3e-10
ependymoma 1.800 2.4e-06
group 3 medulloblastoma -2.800 1.2e-05
lung carcinoma 1.400 8.4e-21
medulloblastoma, large-cell -1.400 2.5e-02
non primary Sjogren syndrome sicca -1.100 3.0e-02
oligodendroglioma 1.600 9.3e-03
osteosarcoma -2.595 1.6e-06
pituitary cancer 1.300 4.0e-02
psoriasis -1.400 9.1e-13

Gene RIF (54)

AA Sequence

MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTANNLDKDCDNM      1 - 70
KDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQHGGICHQDPIYPVCICPAGY     71 - 140
AGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQGRHCDLEVDECASDPCKNEATCLNEIGRYTC    141 - 210
ICPHNYSGVNCELEIDECWSQPCLNGATCQDALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDG    211 - 280
ENRYSCNCTGSGFTGTHCETLMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQS    281 - 350
NGECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYT    351 - 420
CHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLCEIATTLSFEG    421 - 490
DGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSGYIHLSIQVNNQSKVLLFISH    491 - 560
NTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLESDQSICAFQNSFLGGLPVGMTSNGVALLNF    561 - 630
YNMPSTPSFVGCLQDIKIDWNHITLENISSGSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHR    631 - 700
PYEGPNCLREYVAGRFGQDDSTGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERG    701 - 770
RLAMLTPNSPKLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQE    771 - 840
TELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGGVCHSRWDDFS    841 - 910
CSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQILFRSNGNITRELTNITFGF    911 - 980
RTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYMLSLTSLQSVNDGTWHEVTLSMTDPLSQTSR    981 - 1050
WQMEVDNETPFVTSTIATGSLNFLKDNTDIYVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKP   1051 - 1120
QEEQFLKISTNSVVTGCLQLNVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGN   1121 - 1190
CSDRVAAYHCTCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCG   1191 - 1260
NEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQCLCDVAFAGE   1261 - 1330
RCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYSPSRQEKEGSRVEMWNLMPPP   1331 - 1400
AMERLI                                                                   1401 - 1406
//

Text Mined References (92)

PMID Year Title