JBTS17
MCID: JBR025
MIFTS: 45

Joubert Syndrome 17 (JBTS17)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 17

MalaCards integrated aliases for Joubert Syndrome 17:

Name: Joubert Syndrome 17 57 12 72 29 13 6 15 70
Jbts17 57 12 72
Joubert Syndrome, Type 17 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
reported in individuals of french canadian origin


HPO:

31
joubert syndrome 17:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110986
OMIM® 57 614615
OMIM Phenotypic Series 57 PS213300
UMLS 70 C3553264

Summaries for Joubert Syndrome 17

UniProtKB/Swiss-Prot : 72 Joubert syndrome 17: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

MalaCards based summary : Joubert Syndrome 17, also known as jbts17, is related to orofaciodigital syndrome and joubert syndrome 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 17 is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include eye, and related phenotypes are polydactyly and syndactyly

Disease Ontology : 12 A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has material basis in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.

More information from OMIM: 614615 PS213300

Related Diseases for Joubert Syndrome 17

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33
Joubert Syndrome 35 Joubert Syndrome 36
Joubert Syndrome 37

Diseases related to Joubert Syndrome 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome 29.8 WDPCP INTU CPLANE1
2 joubert syndrome 1 29.4 WDR35 IFT140 CPLANE1 CLUAP1
3 polydactyly 28.6 WDR35 INTU IFT74 IFT140 CPLANE1
4 periodic paralyses 10.2 SCN4A GH-LCR
5 orofaciodigital syndrome v 10.2 WDPCP CPLANE1
6 normokalemic periodic paralysis 10.2 SCN4A GH-LCR
7 cataract congenital dominant non nuclear 10.2 LOC100507443 CRYGD
8 hypokalemic periodic paralysis, type 2 10.2 SCN4A GH-LCR
9 myasthenic syndrome, congenital, 16 10.2 SCN4A GH-LCR
10 familial periodic paralysis 10.2 SCN4A GH-LCR
11 myotonia 10.1 SCN4A GH-LCR
12 hyperkalemic periodic paralysis 10.1 SCN4A GH-LCR
13 myotonia congenita 10.1 SCN4A GH-LCR
14 cataract microcornea syndrome 10.1 LOC100507443 CRYGD
15 acromelic frontonasal dysostosis 10.1 WDPCP INTU
16 ciliopathy 10.1
17 spina bifida occulta 10.0 INTU FUZ
18 orofaciodigital syndrome vi 10.0 WDPCP FUZ CPLANE1
19 meningocele 10.0 INTU FUZ
20 short rib-polydactyly syndrome 10.0 WDR35 INTU
21 cranioectodermal dysplasia 1 9.9 WDR35 IFT140
22 short-rib thoracic dysplasia 5 with or without polydactyly 9.9 WDR35 IFT140
23 nephronophthisis 1 9.9
24 lissencephaly 1 9.9
25 lissencephaly 9.9
26 microcephaly 9.9
27 paramyotonia congenita of von eulenburg 9.9 SCN4A GH-LCR
28 short-rib thoracic dysplasia 1 with or without polydactyly 9.8 WDR35 IFT140 CPLANE1
29 cleft lip/palate 9.7 WDR35 INTU IFT140
30 weyers acrofacial dysostosis 9.7 WDR35 IFT140
31 short-rib thoracic dysplasia 4 with or without polydactyly 9.7 WDR35 IFT140 CLUAP1
32 short-rib thoracic dysplasia 9 with or without polydactyly 9.7 WDR35 IFT140 CLUAP1
33 ellis-van creveld syndrome 9.7 WDR35 INTU IFT140
34 juvenile nephronophthisis 9.7 INTU IFT140 CPLANE1
35 short-rib thoracic dysplasia 12 9.6 WDR35 INTU IFT74
36 short-rib thoracic dysplasia 7 with or without polydactyly 9.4 WDR35 INTU IFT140 CLUAP1
37 meckel syndrome, type 1 9.4 WDPCP IFT74 IFT140 CPLANE1
38 cranioectodermal dysplasia 9.3 WDR35 IFT74 IFT140 FUZ
39 bardet-biedl syndrome 9.2 WDR35 WDPCP IFT74 IFT140
40 short-rib thoracic dysplasia 6 with or without polydactyly 9.2 WDR35 IFT74 IFT140 FUZ CPLANE1
41 short-rib thoracic dysplasia 3 with or without polydactyly 9.0 WDR35 INTU IFT74 IFT140 CLUAP1
42 primary ciliary dyskinesia 9.0 WDR35 IFT74 IFT140 FUZ CLUAP1
43 fundus dystrophy 8.9 WDR35 WDPCP IFT74 IFT140 CPLANE1 CLUAP1
44 asphyxiating thoracic dystrophy 8.7 WDR35 WDPCP INTU IFT74 IFT140 FUZ
45 nephronophthisis 8.7 WDR35 WDPCP INTU IFT74 IFT140 CPLANE1

Graphical network of the top 20 diseases related to Joubert Syndrome 17:



Diseases related to Joubert Syndrome 17

Symptoms & Phenotypes for Joubert Syndrome 17

Human phenotypes related to Joubert Syndrome 17:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 polydactyly 31 occasional (7.5%) HP:0010442
2 syndactyly 31 occasional (7.5%) HP:0001159
3 ataxia 31 HP:0001251
4 global developmental delay 31 HP:0001263
5 cerebellar vermis hypoplasia 31 HP:0001320
6 molar tooth sign on mri 31 HP:0002419
7 oculomotor apraxia 31 HP:0000657
8 hyperventilation 31 HP:0002883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
ataxia
global developmental delay
cerebellar vermis hypoplasia
molar tooth sign
cerebellar vermis agenesis

Respiratory:
abnormal breathing pattern
hyperventilation, episodic

Skeletal Feet:
polydactyly (in some)

Head And Neck Eyes:
oculomotor apraxia

Skeletal Hands:
polydactyly (in some)
syndactyly (in some)

Clinical features from OMIM®:

614615 (Updated 05-Apr-2021)

UMLS symptoms related to Joubert Syndrome 17:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 CLUAP1 CPLANE1 CPLANE2 FUZ IFT140 IFT74
2 digestive/alimentary MP:0005381 9.8 CPLANE1 CPLANE2 FUZ IFT140 WDPCP WDR35
3 embryo MP:0005380 9.8 CLUAP1 CPLANE1 FUZ IFT140 INTU WDPCP
4 limbs/digits/tail MP:0005371 9.7 CPLANE1 CPLANE2 FUZ IFT140 INTU WDPCP
5 respiratory system MP:0005388 9.56 CPLANE1 CPLANE2 FUZ IFT140 IFT74 SCN4A
6 vision/eye MP:0005391 9.17 CPLANE1 CPLANE2 CRYGD FUZ IFT140 INTU

Drugs & Therapeutics for Joubert Syndrome 17

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 17

Genetic Tests for Joubert Syndrome 17

Genetic tests related to Joubert Syndrome 17:

# Genetic test Affiliating Genes
1 Joubert Syndrome 17 29 CPLANE1

Anatomical Context for Joubert Syndrome 17

MalaCards organs/tissues related to Joubert Syndrome 17:

40
Eye

Publications for Joubert Syndrome 17

Articles related to Joubert Syndrome 17:

(show all 20)
# Title Authors PMID Year
1
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. 61 57 6
25877302 2015
2
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 57 6
26092869 2015
3
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 6 57
22425360 2012
4
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 61 6
27158779 2016
5
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 6
29321670 2018
6
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 6
28125082 2017
7
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. 6
28087721 2017
8
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 6
28289185 2017
9
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 6
28431631 2017
10
Molecular genetic analysis of 30 families with Joubert syndrome. 6
27434533 2016
11
Joubert syndrome: genotyping a Northern European patient cohort. 6
25920555 2016
12
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 6
25407461 2015
13
C5orf42 is the major gene responsible for OFD syndrome type VI. 6
24178751 2014
14
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 6
24091540 2013
15
Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 1969. 6
10488899 1999
16
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 57
5816874 1969
17
[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]. 61
32335874 2020
18
Hexa-Longin domain scaffolds for inter-Rab signalling. 61
31562761 2020
19
Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. 61
31004438 2019
20
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. 61
27081551 2015

Variations for Joubert Syndrome 17

ClinVar genetic disease variations for Joubert Syndrome 17:

6 (show top 50) (show all 384)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPLANE1 NM_023073.3(CPLANE1):c.2377C>T (p.Gln793Ter) SNV Pathogenic 217583 rs776886962 GRCh37: 5:37224757-37224757
GRCh38: 5:37224655-37224655
2 CPLANE1 NM_023073.3(CPLANE1):c.8716G>T (p.Glu2906Ter) SNV Pathogenic 217563 rs863225153 GRCh37: 5:37125426-37125426
GRCh38: 5:37125324-37125324
3 CPLANE1 NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) Insertion Pathogenic 217565 rs1554064102 GRCh37: 5:37148318-37148319
GRCh38: 5:37148216-37148217
4 CPLANE1 NM_023073.3(CPLANE1):c.510del (p.Leu171fs) Deletion Pathogenic 217578 rs779680371 GRCh37: 5:37244537-37244537
GRCh38: 5:37244435-37244435
5 CPLANE1 NM_023073.3(CPLANE1):c.8725del (p.Ala2909fs) Deletion Pathogenic 217561 rs770758833 GRCh37: 5:37125417-37125417
GRCh38: 5:37125315-37125315
6 CPLANE1 NM_023073.3(CPLANE1):c.2831G>A (p.Arg944His) SNV Pathogenic 217586 rs863225165 GRCh37: 5:37213750-37213750
GRCh38: 5:37213648-37213648
7 CPLANE1 NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) SNV Pathogenic 199170 rs373704405 GRCh37: 5:37231122-37231122
GRCh38: 5:37231020-37231020
8 CPLANE1 NM_023073.3(CPLANE1):c.7190del (p.Pro2397fs) Deletion Pathogenic 217568 rs863225156 GRCh37: 5:37168936-37168936
GRCh38: 5:37168834-37168834
9 CPLANE1 NM_023073.3(CPLANE1):c.510dup (p.Leu171fs) Duplication Pathogenic 217576 rs779680371 GRCh37: 5:37244536-37244537
GRCh38: 5:37244434-37244435
10 CPLANE1 NM_023073.3(CPLANE1):c.6267_6268TG[1] (p.Val2090fs) Microsatellite Pathogenic 217579 rs768675259 GRCh37: 5:37170335-37170336
GRCh38: 5:37170233-37170234
11 CPLANE1 NM_023073.3(CPLANE1):c.2275C>T (p.Gln759Ter) SNV Pathogenic 217573 rs863225158 GRCh37: 5:37226422-37226422
GRCh38: 5:37226320-37226320
12 CPLANE1 NM_023073.3(CPLANE1):c.3007G>T (p.Glu1003Ter) SNV Pathogenic 217581 rs863225162 GRCh37: 5:37206441-37206441
GRCh38: 5:37206339-37206339
13 CPLANE1 NM_023073.3(CPLANE1):c.8167C>T (p.Gln2723Ter) SNV Pathogenic 217562 rs863225152 GRCh37: 5:37153886-37153886
GRCh38: 5:37153784-37153784
14 CPLANE1 NM_023073.3(CPLANE1):c.8855+1G>A SNV Pathogenic 217564 rs863225154 GRCh37: 5:37122531-37122531
GRCh38: 5:37122429-37122429
15 CPLANE1 NM_023073.3(CPLANE1):c.2611C>T (p.Arg871Cys) SNV Pathogenic 217589 rs760906097 GRCh37: 5:37221561-37221561
GRCh38: 5:37221459-37221459
16 CPLANE1 NM_023073.3(CPLANE1):c.3632_3633AT[2] (p.Leu1213fs) Microsatellite Pathogenic 217572 rs863225157 GRCh37: 5:37198839-37198840
GRCh38: 5:37198737-37198738
17 CPLANE1 NM_023073.3(CPLANE1):c.2923C>T (p.Gln975Ter) SNV Pathogenic 217587 rs863225166 GRCh37: 5:37206525-37206525
GRCh38: 5:37206423-37206423
18 CPLANE1 NM_023073.3(CPLANE1):c.3130_3131insA (p.Arg1044fs) Insertion Pathogenic 217577 rs863225161 GRCh37: 5:37206317-37206318
GRCh38: 5:37206215-37206216
19 CPLANE1 NM_023073.3(CPLANE1):c.2999G>T (p.Trp1000Leu) SNV Pathogenic 217582 rs773362418 GRCh37: 5:37206449-37206449
GRCh38: 5:37206347-37206347
20 CPLANE1 NM_023073.3(CPLANE1):c.2709G>A (p.Trp903Ter) SNV Pathogenic 217585 rs863225164 GRCh37: 5:37221463-37221463
GRCh38: 5:37221361-37221361
21 CPLANE1 NM_023073.3(CPLANE1):c.8855+1G>T SNV Pathogenic 217588 rs863225154 GRCh37: 5:37122531-37122531
GRCh38: 5:37122429-37122429
22 CPLANE1 NM_023073.3(CPLANE1):c.7400+1G>A SNV Pathogenic 31220 rs367543062 GRCh37: 5:37167148-37167148
GRCh38: 5:37167046-37167046
23 CPLANE1 NM_023073.3(CPLANE1):c.6407del (p.Pro2136fs) Deletion Pathogenic 31221 rs367543064 GRCh37: 5:37170198-37170198
GRCh38: 5:37170096-37170096
24 CPLANE1 NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter) SNV Pathogenic 31222 rs367543063 GRCh37: 5:37183479-37183479
GRCh38: 5:37183377-37183377
25 CPLANE1 NM_023073.3(CPLANE1):c.7936_7937del (p.Pro2646fs) Deletion Pathogenic 473149 rs1554068790 GRCh37: 5:37157792-37157793
GRCh38: 5:37157690-37157691
26 CPLANE1 NM_023073.3(CPLANE1):c.4890dup (p.Ser1631fs) Duplication Pathogenic 473148 rs1554083251 GRCh37: 5:37183392-37183393
GRCh38: 5:37183290-37183291
27 CPLANE1 NM_023073.3(CPLANE1):c.8834del (p.Lys2945fs) Deletion Pathogenic 473150 rs1554050342 GRCh37: 5:37122553-37122553
GRCh38: 5:37122451-37122451
28 CPLANE1 NM_023073.3(CPLANE1):c.1877del (p.Ser626fs) Deletion Pathogenic 473146 rs1327245073 GRCh37: 5:37226820-37226820
GRCh38: 5:37226718-37226718
29 CPLANE1 NM_023073.3(CPLANE1):c.5733T>G (p.Tyr1911Ter) SNV Pathogenic 427893 rs770770257 GRCh37: 5:37180123-37180123
GRCh38: 5:37180021-37180021
30 CPLANE1 NM_023073.3(CPLANE1):c.4314del (p.Glu1439fs) Deletion Pathogenic 427894 rs1554084360 GRCh37: 5:37185057-37185057
GRCh38: 5:37184955-37184955
31 CPLANE1 NM_023073.3(CPLANE1):c.2624C>T (p.Ser875Phe) SNV Pathogenic 194561 rs794727154 GRCh37: 5:37221548-37221548
GRCh38: 5:37221446-37221446
32 CPLANE1 NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) Insertion Pathogenic 217565 rs1554064102 GRCh37: 5:37148318-37148319
GRCh38: 5:37148216-37148217
33 CPLANE1 NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) SNV Pathogenic 537711 rs1345413118 GRCh37: 5:37125357-37125357
GRCh38: 5:37125255-37125255
34 CPLANE1 NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs) Deletion Pathogenic 567531 rs775263897 GRCh37: 5:37148319-37148319
GRCh38: 5:37148217-37148217
35 CPLANE1 NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) Deletion Pathogenic 569087 rs1561584225 GRCh37: 5:37201793-37201793
GRCh38: 5:37201691-37201691
36 CPLANE1 NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) Deletion Pathogenic 569663 rs1187142382 GRCh37: 5:37238989-37238990
GRCh38: 5:37238887-37238888
37 CPLANE1 NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter) SNV Pathogenic 570888 rs957588958 GRCh37: 5:37239940-37239940
GRCh38: 5:37239838-37239838
38 CPLANE1 NM_023073.3(CPLANE1):c.3405_3406CT[1] (p.Ser1136fs) Microsatellite Pathogenic 570974 rs1228082731 GRCh37: 5:37201792-37201793
GRCh38: 5:37201690-37201691
39 CPLANE1 NM_023073.3(CPLANE1):c.7400+1G>A SNV Pathogenic 31220 rs367543062 GRCh37: 5:37167148-37167148
GRCh38: 5:37167046-37167046
40 CPLANE1 NM_023073.3(CPLANE1):c.8471-1G>C SNV Pathogenic 575938 rs1561376123 GRCh37: 5:37139473-37139473
GRCh38: 5:37139371-37139371
41 CPLANE1 NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) SNV Pathogenic 577935 rs1381740657 GRCh37: 5:37169426-37169426
GRCh38: 5:37169324-37169324
42 CPLANE1 NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) Duplication Pathogenic 578049 rs1561655920 GRCh37: 5:37224379-37224380
GRCh38: 5:37224277-37224278
43 CPLANE1 NM_001384732.1(CPLANE1):c.7691-107_7691-105del Deletion Pathogenic 982303 GRCh37: 5:37158552-37158554
GRCh38: 5:37158450-37158452
44 CPLANE1 NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC Insertion Pathogenic 982368 GRCh37: 5:37227583-37227584
GRCh38: 5:37227481-37227482
45 CPLANE1 NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs) Duplication Pathogenic 984909 GRCh37: 5:37227481-37227482
GRCh38: 5:37227379-37227380
46 CPLANE1 NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter) SNV Pathogenic 217584 rs863225163 GRCh37: 5:37224781-37224781
GRCh38: 5:37224679-37224679
47 CPLANE1 NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) SNV Pathogenic 217569 rs374144275 GRCh37: 5:37120408-37120408
GRCh38: 5:37120306-37120306
48 CPLANE1 NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) SNV Pathogenic 217580 rs530569572 GRCh37: 5:37226913-37226913
GRCh38: 5:37226811-37226811
49 CPLANE1 NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) SNV Pathogenic 217567 rs863225155 GRCh37: 5:37138844-37138844
GRCh38: 5:37138742-37138742
50 CPLANE1 NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter) SNV Pathogenic 217571 rs141507441 GRCh37: 5:37125432-37125432
GRCh38: 5:37125330-37125330

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 17:

72
# Symbol AA change Variation ID SNP ID
1 CPLANE1 p.Arg1336Trp VAR_068165 rs367543061

Expression for Joubert Syndrome 17

Search GEO for disease gene expression data for Joubert Syndrome 17.

Pathways for Joubert Syndrome 17

Pathways related to Joubert Syndrome 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 WDR35 IFT74 IFT140 CLUAP1
2
Show member pathways
11.8 WDR35 INTU IFT140 FUZ
3 10.54 WDR35 IFT74 IFT140 CLUAP1

GO Terms for Joubert Syndrome 17

Cellular components related to Joubert Syndrome 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.91 WDR35 WDPCP INTU IFT140 FUZ CPLANE2
2 centrosome GO:0005813 9.76 WDR35 IFT74 IFT140 CLUAP1
3 cell projection GO:0042995 9.61 WDR35 WDPCP INTU IFT74 IFT140 FUZ
4 ciliary basal body GO:0036064 9.56 WDR35 INTU IFT140 CPLANE2
5 axoneme GO:0005930 9.54 WDR35 WDPCP IFT140
6 ciliary tip GO:0097542 9.46 WDR35 IFT74 IFT140 CLUAP1
7 intraciliary transport particle B GO:0030992 9.4 IFT74 CLUAP1
8 intraciliary transport particle A GO:0030991 9.32 WDR35 IFT140
9 cilium GO:0005929 9.17 WDR35 WDPCP IFT74 IFT140 CPLANE2 CPLANE1

Biological processes related to Joubert Syndrome 17 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.7 IFT74 IFT140 CPLANE1
2 roof of mouth development GO:0060021 9.65 WDPCP INTU CPLANE1
3 embryonic digit morphogenesis GO:0042733 9.62 WDPCP INTU IFT140 CPLANE1
4 intraciliary transport GO:0042073 9.61 WDR35 IFT74 IFT140
5 cilium assembly GO:0060271 9.61 WDR35 WDPCP INTU IFT74 IFT140 FUZ
6 regulation of smoothened signaling pathway GO:0008589 9.58 INTU IFT140 FUZ
7 non-motile cilium assembly GO:1905515 9.56 INTU IFT74 IFT140 FUZ
8 establishment of planar polarity GO:0001736 9.54 INTU FUZ CPLANE1
9 protein localization to cilium GO:0061512 9.51 WDR35 IFT140
10 intraciliary retrograde transport GO:0035721 9.49 WDR35 IFT140
11 tongue morphogenesis GO:0043587 9.46 WDPCP INTU
12 intraciliary transport involved in cilium assembly GO:0035735 9.46 WDR35 IFT74 IFT140 CLUAP1
13 cell projection organization GO:0030030 9.28 WDR35 WDPCP INTU IFT74 IFT140 FUZ

Sources for Joubert Syndrome 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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