Property Summary

NCBI Gene PubMed Count 40
PubMed Score 156.98
PubTator Score 28.04

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Nephronophthisis 80
Abnormality of the urinary system 21
Abnormally small eyeball 97
Anencephaly 26
Anteverted nostril 191
Aplasia/Hypoplasia of the iris 10
Apnea 45
Autosomal recessive predisposition 1442
Bile duct proliferation 9
Biparietal narrowing 28
Blepharoptosis 231
Bowing of the long bones 31
Cataract 297
Cerebellar Ataxia 304
Cerebellar hypoplasia and atrophy 41
Cerebellar vermis hypoplasia 24
Chorioretinal abnormality 21
Chubby cheeks 50
Cleft Lip 141
Cleft Palate 271
Cognitive delay 608
Coloboma of iris 38
Coloboma of optic disc 9
Congenital cerebral hernia 21
Congenital ocular coloboma (disorder) 40
Corneal diameter decreased 47
Cryptorchidism 296
Decreased size of eyeball 97
Decreased width of the skull 28
Defective or absent horizontal voluntary eye movements 25
Depressed nasal ridge 51
Disorder of eye 27
Dull intelligence 645
Elevated hepatic transaminases 81
Feeding difficulties 127
Feeding difficulties in infancy 175
Fibrosis, Liver 32
Fibular polydactyly 12
Full cheeks 50
Fundus coloboma 18
Gait abnormality 135
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hepatic Fibrosis, Congenital 10
Hepatic enzyme increased 81
Hepatomegaly 285
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertension, Portal 22
Hypertrophy of cheeks 50
Hypoplastic mandible condyle 275
Infantile onset 238
Intellectual disability 1016
Intrahepatic biliary atresia 1
JOUBERT SYNDROME 4 (disorder) 3
Kidney Failure 111
Kidney damage 25
Lens Opacities 231
Liver Cirrhosis 181
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Lobar Holoprosencephaly 20
Long face 71
Low Vision 174
Low intelligence 645
Low-set, posteriorly rotated ears 110
Macrostomia 72
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Meckel-Gruber syndrome 13
Medullary sponge kidney disease 3
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Microphthalmos 100
Moderate mental retardation (I.Q. 35-49) 28
Molar tooth sign on MRI 12
Multicystic Dysplastic Kidney 52
Multiple small medullary renal cysts 3
Muscle Spasticity 195
Muscle hypotonia 571
Nystagmus 317
Occipital Encephalocele 10
Oculomotor apraxia 25
Oligohydramnios 52
Optic Atrophy 242
Orbital separation excessive 244
POLYDACTYLY, POSTAXIAL 13
Poor growth 114
Poor school performance 645
Postaxial foot polydactyly 12
Puffy cheeks 50
Renal Insufficiency 90
Renal failure in adulthood 76
Round face 45
Round, full face 45
Sclerocornea 29
Sloping forehead 46
Small head 374
Splenomegaly 190
Subclinical abnormal liver function tests 81
Talipes 20
Talipes foot deformities 20
Transaminases increased 81
Ulnar polydactyly of fingers 47
Uranostaphyloschisis 167
Very poor growth 114
Visual Impairment 174
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Joubert syndrome 66 5.959 3.0
Disease Target Count Z-score Confidence
Gender identity disorder 4 6.47 3.2
Essential tremor 28 4.429 2.2
Disease Target Count
Meckel syndrome 46
Joubert syndrome 4 3

Expression

  Differential Expression (9)

Disease log2 FC p
active Crohn's disease 1.295 1.9e-02
Breast cancer 2.200 2.7e-02
chronic rhinosinusitis -1.216 4.8e-02
cystic fibrosis and chronic rhinosinusit... -1.202 4.7e-02
ductal carcinoma in situ 1.400 1.3e-03
ependymoma 1.500 4.1e-02
invasive ductal carcinoma 1.400 3.2e-02
lung cancer 1.300 3.2e-02
ovarian cancer 1.300 8.7e-04

Protein-protein Interaction (2)

Gene RIF (24)

AA Sequence

MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARK      1 - 70
QEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQL     71 - 140
QTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRN    141 - 210
LENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSN    211 - 280
ALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRIND    281 - 350
LEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKL    351 - 420
VQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKD    421 - 490
LERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAA    491 - 560
RIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPV    561 - 630
TFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKF    631 - 700
HEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLS    701 - 770
QQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDD    771 - 840
HMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTI    841 - 910
HVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDI    911 - 980
MPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPKVSQEGSVDEVKENTEKMQQGKDDVSLLSEG    981 - 1050
QLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRL   1051 - 1120
PGSSDFPASASQVDGITGACHHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSL   1121 - 1190
PKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHV   1191 - 1260
DLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA                  1261 - 1315
//

Text Mined References (44)

PMID Year Title