Property Summary

NCBI Gene PubMed Count 17
PubMed Score 23.31
PubTator Score 9.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Short Rib-Polydactyly Syndrome 13 0.0 0.0
Disease Target Count
Nephronophthisis 80
Abnormal skeletal development 60
Abnormal vision 52
Abnormality of pelvic girdle bone morphology 37
Abnormality of retinal pigmentation 111
Abnormality of the clavicle 14
Abnormality of the metaphyses 48
Abnormality of the retinal vasculature 59
Abnormality of the ribs 32
Anemia 365
Anteverted nostril 191
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Blind Vision 111
Blindness, Legal 110
Brachydactyly 156
Broad flat nasal bridge 236
Cataract 297
Cerebellar Ataxia 304
Cerebellar vermis aplasia or hypoplasia 12
Cerebellar vermis aplasia/ hypoplasia 12
Cholestasis 155
Chronic kidney disease stage 5 31
Conductive hearing loss 123
Cone-shaped epiphyses 24
Congenital anomaly of testis 52
Congenital cerebral hernia 21
Congenital hypoplasia of penis 176
Cystic kidney 30
Dull intelligence 645
Electroretinogram abnormal 95
Epilepsy 792
Fibrosis, Liver 32
Glaucoma 239
Hemiplegia and hemiparesis 38
Hemoglobin low 124
Hepatomegaly 285
Hyperinsulinism 133
Hypogonadism 173
Hypoplastic feet 66
Infantile onset 238
Intellectual disability 1016
Jeune thoracic dystrophy 10
Keratoconus 113
Kidney Diseases 114
Kidney damage 25
Lens Opacities 231
Low intelligence 645
Mainzer-Saldino Disease 2
Malformations of Cortical Development, Group II 31
Mental Retardation 645
Mental deficiency 645
Micromelia 58
Muscle hypotonia 571
Narrow thorax 53
Nasal bridge wide 236
Night blindness, progressive 51
Nystagmus 317
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Optic disc abnormalities 12
Osteochondrodysplasias 72
Photodysphoria 121
Photophobia 121
Poor school performance 645
RENAL ADYSPLASIA 25
Renal cyst 30
Renal dysplasia 28
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal pigment epithelial abnormality 111
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe visual impairment 16
Short femoral neck 15
Short phalanx of finger 32
Short stature 531
Short thorax 21
Small capital femoral epiphyses 10
Sternal anomalies 19
Disease Target Count P-value
ependymoma 4679 3.7e-11
ovarian cancer 8519 1.8e-10
medulloblastoma, large-cell 6241 1.9e-05
osteosarcoma 7950 3.6e-05
interstitial cystitis 2312 1.4e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma 1.200 3.7e-11
interstitial cystitis -1.800 1.4e-02
medulloblastoma, large-cell 1.300 1.9e-05
osteosarcoma -1.572 3.6e-05
ovarian cancer 1.300 1.8e-10

 GWAS Trait (1)

Gene RIF (8)

AA Sequence

MALYYDHQIEAPDAAGSPSFISWHPVHPFLAVAYISTTSTGSVDIYLEQGECVPDTHVERPFRVASLCWH      1 - 70
PTRLVLAVGWETGEVTVFNKQDKEQHTMPLTHTADITVLRWSPSGNCLLSGDRLGVLLLWRLDQRGRVQG     71 - 140
TPLLKHEYGKHLTHCIFRLPPPGEDLVQLAKAAVSGDEKALDMFNWKKSSSGSLLKMGSHEGLLFFVSLM    141 - 210
DGTVHYVDEKGKTTQVVSADSTIQMLFYMEKREALVVVTENLRLSLYTVPPEGKAEEVMKVKLSGKTGRR    211 - 280
ADIALIEGSLLVMAVGEAALRFWDIERGENYILSPDEKFGFEKGENMNCVCYCKVKGLLAAGTDRGRVAM    281 - 350
WRKVPDFLGSPGAEGKDRWALQTPTELQGNITQIQWGSRKNLLAVNSVISVAILSERAMSSHFHQQVAAM    351 - 420
QVSPSLLNVCFLSTGVAHSLRTDMHISGVFATKDAVAVWNGRQVAIFELSGAAIRSAGTFLCETPVLAMH    421 - 490
EENVYTVESNRVQVRTWQGTVKQLLLFSETEGNPCFLDICGNFLVVGTDLAHFKSFDLSRREAKAHCSCR    491 - 560
SLAELVPGVGGIASLRCSSSGSTISILPSKADNSPDSKICFYDVEMDTVTVFDFKTGQIDRRETLSFNEQ    561 - 630
ETNKSHLFVDEGLKNYVPVNHFWDQSEPRLFVCEAVQETPRSQPQSANGQPQDGRAGPAADVLILSFFIS    631 - 700
EEHGFLLHESFPRPATSHSLLGMEVPYYYFTRKPEEADREDEVEPGCHHIPQMVSRRPLRDFVGLEDCDK    701 - 770
ATRDAMLHFSFFVTIGDMDEAFKSIKLIKSEAVWENMARMCVKTQRLDVAKVCLGNMGHARGARALREAE    771 - 840
QEPELEARVAVLATQLGMLEDAEQLYRKCKRHDLLNKFYQAAGRWQEALQVAEHHDRVHLRSTYHRYAGH    841 - 910
LEASADCSRALSYYEKSDTHRFEVPRMLSEDLPSLELYVNKMKDKTLWRWWAQYLESQGEMDAALHYYEL    911 - 980
ARDHFSLVRIHCFQGNVQKAAQIANETGNLAASYHLARQYESQEEVGQAVHFYTRAQAFKNAIRLCKENG    981 - 1050
LDDQLMNLALLSSPEDMIEAARYYEEKGVQMDRAVMLYHKAGHFSKALELAFATQQFVALQLIAEDLDET   1051 - 1120
SDPALLARCSDFFIEHSQYERAVELLLAARKYQEALQLCLGQNMSITEEMAEKMTVAKDSSDLPEESRRE   1121 - 1190
LLEQIADCCMRQGSYHLATKKYTQAGNKLKAMRALLKSGDTEKITFFASVSRQKEIYIMAANYLQSLDWR   1191 - 1260
KEPEIMKNIIGFYTKGRALDLLAGFYDACAQVEIDEYQNYDKAHGALTEAYKCLAKAKAKSPLDQETRLA   1261 - 1330
QLQSRMALVKRFIQARRTYTEDPKESIKQCELLLEEPDLDSTIRIGDVYGFLVEHYVRKEEYQTAYRFLE   1331 - 1400
EMRRRLPLANMSYYVSPQAVDAVHRGLGLPLPRTVPEQVRHNSMEDARELDEEVVEEADDDP           1401 - 1462
//

Text Mined References (23)

PMID Year Title