Property Summary

NCBI Gene PubMed Count 13
PubMed Score 10.93
PubTator Score 5.14

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
JOUBERT SYNDROME 2 1 0.0 0.0
Meckel syndrome type 2 1 0.0 0.0
Disease Target Count
Polydactyly 107
Nephronophthisis 80
Abnormal corpus callosum 4
Abnormal renal function 3
Abnormal visual pursuit 14
Abnormality of saccadic eye movements 2
Abnormally small eyeball 97
Anencephaly 26
Aplasia/Hypoplasia of the iris 10
Apnea 45
Autism Spectrum Disorders 75
Autistic behavior 20
Autosomal recessive predisposition 1442
Big calvaria 147
Bile duct proliferation 9
Biparietal narrowing 28
Blepharoptosis 231
Blind Vision 111
Blindness, Legal 110
Bowing of the long bones 31
Brainstem hypoplasia/dysplasia 1
Byzanthine arch palate 194
Cataract 297
Cerebellar Ataxia 304
Cerebellar vermis hypoplasia 24
Chorioretinal abnormality 21
Chubby cheeks 50
Cleft Palate 271
Cognitive delay 608
Coloboma of iris 38
Coloboma of optic disc 9
Concave bridge of nose 195
Congenital cerebral hernia 21
Corneal diameter decreased 47
Cryptorchidism 296
Cystic kidney 30
Decreased size of eyeball 97
Decreased width of the skull 28
Defective or absent horizontal voluntary eye movements 25
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Dull intelligence 645
Dysgenesis of the cerebellar vermis 1
Elongated superior cerebellar peduncles 3
Enlarged fossa interpeduncularis 2
Esotropia 31
Failure to gain weight 365
Familial aplasia of the vermis 19
Fetal Growth Retardation 189
Fibular polydactyly 12
Foot Deformities 30
Frontal bossing 157
Full cheeks 50
Fundus coloboma 18
Global developmental delay 608
Hepatic Fibrosis, Congenital 10
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydrocephalus 152
Hyperplasia of cheeks 50
Hyperpnea, episodic 7
Hypertrophy of cheeks 50
Hypoplasia of the brainstem 22
Hypoplastic male genitalia 7
Hypoplastic mandible condyle 275
Impaired saccades 2
Impaired smooth pursuit 14
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Kidney Diseases 114
Kidney damage 25
Lens Opacities 231
Lobar Holoprosencephaly 20
Long cerebellar peduncles 3
Long face 71
Long narrow head 75
Low Vision 174
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Meckel-Gruber syndrome 13
Meningocele 11
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Microphthalmos 100
Molar tooth sign on MRI 12
Multicystic Dysplastic Kidney 52
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Neonatal breathing dysregulation 2
Nystagmus 317
OROFACIODIGITAL SYNDROME VI 8
Oculomotor apraxia 25
Oligohydramnios 52
Optic Atrophy 242
Orbital separation excessive 244
Pediatric failure to thrive 365
Phenotypic variability 150
Poor school performance 645
Postaxial foot polydactyly 12
Puffy cheeks 50
Renal cyst 30
Retinal Dystrophies 33
Sclerocornea 29
Sleep Apnea, Central 8
Sloping forehead 46
Small head 374
Tachypnea 20
Talipes 20
Talipes foot deformities 20
Thickened superior cerebellar peduncle 2
Turridolichocephaly 75
Ulnar polydactyly of fingers 47
Uranostaphyloschisis 167
Visual Impairment 174
Disease Target Count P-value
posterior fossa group B ependymoma 416 8.6e-12
non primary Sjogren syndrome sicca 891 1.7e-02
Disease Target Count Z-score Confidence
Joubert syndrome 66 6.089 3.0

Expression

  Differential Expression (2)

Disease log2 FC p
non primary Sjogren syndrome sicca 1.100 1.7e-02
posterior fossa group B ependymoma 1.300 8.6e-12

Gene RIF (4)

AA Sequence

MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIE      1 - 70
VIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLA     71 - 140
AFSRI                                                                     141 - 145
//

Text Mined References (15)

PMID Year Title