Property Summary

NCBI Gene PubMed Count 65
PubMed Score 55.27
PubTator Score 76.02

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Nephronophthisis 80
Abnormality of retinal pigmentation 111
Anemia 365
Apnea 45
Autosomal recessive predisposition 1442
Biparietal narrowing 28
Cerebellar Ataxia 304
Cerebellar vermis hypoplasia 24
Chronic kidney disease stage 5 31
Cognitive delay 608
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Corticomedullary renal cysts 3
Decreased visual acuity, progressive 36
Decreased width of the skull 28
Defective or absent horizontal voluntary eye movements 25
Dull intelligence 645
Electroretinogram abnormal 95
Elongated superior cerebellar peduncles 3
Feeding difficulties 127
Gait abnormality 135
Global developmental delay 608
Gross motor development delay 21
Growth delay 114
Growth failure 114
Growth retardation 115
Hemoglobin low 124
Hypertensive disease 292
Hypogonadism 173
Hypometric saccades 4
Hypoplastic ovary 30
Impaired cognition 96
Impairment of urinary concentration 5
Increase in blood pressure 119
Intellectual disability 1016
JOUBERT SYNDROME 4 (disorder) 3
Kidney Failure 111
Kidney damage 25
Long cerebellar peduncles 3
Long face 71
Low Vision 174
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Molar tooth sign on MRI 12
Multicystic Dysplastic Kidney 52
Muscle hypotonia 571
Nystagmus 317
Obesity 678
Oculomotor apraxia 25
Polydipsia 15
Polyuria 23
Poor growth 114
Poor school performance 645
Premature Menopause 31
Progressive visual loss 36
Renal Insufficiency 90
Renal dysplasia and retinal aplasia (disorder) 10
Renal failure in adulthood 76
Retinal Dystrophies 33
Retinal pigment epithelial abnormality 111
Retinitis Pigmentosa 226
Short stature 531
Thickened superior cerebellar peduncle 2
Tubular atrophy 10
Tubular basement membrane disintegration 2
Tubulointerstitial fibrosis 11
Ulnar polydactyly of fingers 47
Very poor growth 114
Visual Impairment 174
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Joubert syndrome 66 6.266 3.1

Expression

  Differential Expression (5)

Disease log2 FC p
active Crohn's disease 1.146 2.8e-02
atypical teratoid / rhabdoid tumor 1.300 2.2e-03
ependymoma 1.100 1.1e-08
glioblastoma 1.200 2.3e-05
pediatric high grade glioma 1.200 3.2e-04

 GWAS Trait (1)

Gene RIF (31)

AA Sequence

MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKAD      1 - 70
ESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEE     71 - 140
EEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPY    141 - 210
SEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRM    211 - 280
ETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYF    281 - 350
LQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSN    351 - 420
IHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGW    421 - 490
VFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRS    491 - 560
RNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSW    561 - 630
AGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGA    631 - 700
LQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV                                          701 - 732
//

Text Mined References (65)

PMID Year Title