JBTS24
MCID: JBR035
MIFTS: 45

Joubert Syndrome 24 (JBTS24)

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

Aliases & Classifications for Joubert Syndrome 24

MalaCards integrated aliases for Joubert Syndrome 24:

Name: Joubert Syndrome 24 57 12 73 29 6 15
Jbts24 57 12 73

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy


HPO:

31
joubert syndrome 24:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Joubert Syndrome 24

UniProtKB/Swiss-Prot : 73 Joubert syndrome 24: A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly.

MalaCards based summary : Joubert Syndrome 24, also known as jbts24, is related to meckel syndrome, type 7 and cone-rod dystrophy 16. An important gene associated with Joubert Syndrome 24 is TCTN2 (Tectonic Family Member 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Signaling by Hedgehog. Affiliated tissues include eye and brain, and related phenotypes are talipes equinovarus and spasticity

Disease Ontology : 12 A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24.

OMIM® : 57 Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (616654) (Updated 05-Mar-2021)

Related Diseases for Joubert Syndrome 24

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 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 7 10.2 TMEM231 B9D1
2 cone-rod dystrophy 16 10.1 TMEM231 CEP164 B9D1
3 nephronophthisis 13 10.1 NPHP1 CEP164
4 congenital hepatic fibrosis 10.1 RPGRIP1L AHI1
5 nephronophthisis 18 10.1 NPHP1 CEP164
6 nephronophthisis 15 10.0 NPHP1 CEP164
7 spinocerebellar ataxia 11 10.0 IFT88 CEP164
8 oculomotor apraxia 10.0 NPHP1 AHI1
9 meckel syndrome, type 8 9.9 TCTN2 RPGRIP1L B9D1 ATP6V0A2
10 joubert syndrome 15 9.9 TMEM231 RPGRIP1L NPHP1
11 encephalocele 9.9 CEP290 B9D1
12 polycystic liver disease 1 with or without kidney cysts 9.8 PTCH1 NPHP1
13 retinal aplasia 9.8 NPHP1 CEP290
14 acrocallosal syndrome 9.8 RPGRIP1L NPHP1 AHI1
15 joubert syndrome 14 9.8 TMEM231 RPGRIP1L NPHP1 B9D1
16 bardet-biedl syndrome 11 9.7 RPGRIP1L CEP290
17 simpson-golabi-behmel syndrome, type 2 9.7 IFT88 CEP290
18 renal-hepatic-pancreatic dysplasia 9.7 NPHP1 CEP290
19 johanson-blizzard syndrome 9.7 TMEM231 RPGRIP1L CEP290
20 ciliopathy 9.7 TMEM231 RPGRIP1L CEP290
21 nephronophthisis 1 9.7 RPGRIP1L NPHP1 B9D1 AHI1
22 alstrom syndrome 9.7 RPGRIP1L CEP290
23 bardet-biedl syndrome 8 9.6 IFT88 CEP290
24 enophthalmos 9.6 CEP290 AHI1
25 orofaciodigital syndrome i 9.6 IFT88 CEP290 CEP164
26 nephronophthisis 11 9.6 RPGRIP1L NPHP1 CEP290
27 holoprosencephaly 9.6 TCTN2 PTCH1 IFT88 ARL13B
28 nephronophthisis 16 9.6 RPGRIP1L NPHP1 CEP290
29 joubert syndrome 10 9.5 TCTN2 RPGRIP1L NPHP1 ARL13B AHI1
30 orofaciodigital syndrome 9.5 TMEM231 IFT88 CEP290 CEP164
31 bardet-biedl syndrome 6 9.5 RPGRIP1L IFT88 CEP290
32 apraxia 9.5 TCTN2 NPHP1 CEP290 AHI1
33 joubert syndrome 9 9.5 RPGRIP1L CEP290 ARL13B AHI1
34 meckel syndrome, type 2 9.5 TMEM231 TCTN2 RPGRIP1L CEP290 B9D1
35 nephronophthisis 14 9.5 TCTN2 RPGRIP1L NPHP1 CEP290
36 bardet-biedl syndrome 1 9.4 NPHP1 IFT88 CEP290
37 nephronophthisis 12 9.4 RPGRIP1L NPHP1 CEP290 CEP164
38 bardet-biedl syndrome 3 9.4 IFT88 CEP290
39 cogan syndrome 9.4 RPGRIP1L NPHP1 CEP290 AHI1
40 joubert syndrome 6 9.4 RPGRIP1L NPHP1 CEP290 AHI1
41 nephronophthisis 19 9.4 RPGRIP1L NPHP1 CEP290 AHI1
42 nephronophthisis 7 9.4 RPGRIP1L NPHP1 CEP290 AHI1
43 spinocerebellar ataxia 29 9.3 TCTN2 RPGRIP1L CEP290 B9D1 AHI1
44 physical disorder 9.3 PTCH1 IFT88 CEP290 ARL13B
45 nephronophthisis 9 9.2 RPGRIP1L NPHP1 CEP290 CEP164 AHI1
46 joubert syndrome 2 9.2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
47 joubert syndrome 8 9.2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
48 joubert syndrome 7 9.2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
49 polydactyly 9.2 TMEM231 TCTN2 RPGRIP1L PTCH1 CEP290 B9D1
50 meckel syndrome, type 5 9.2 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1

Graphical network of the top 20 diseases related to Joubert Syndrome 24:



Diseases related to Joubert Syndrome 24

Symptoms & Phenotypes for Joubert Syndrome 24

Human phenotypes related to Joubert Syndrome 24:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 occasional (7.5%) HP:0001762
2 spasticity 31 HP:0001257
3 hyperreflexia 31 HP:0001347
4 nystagmus 31 HP:0000639
5 gait disturbance 31 HP:0001288
6 global developmental delay 31 HP:0001263
7 absent speech 31 HP:0001344
8 dysmetria 31 HP:0001310
9 polymicrogyria 31 HP:0002126
10 cerebellar hypoplasia 31 HP:0001321
11 pachygyria 31 HP:0001302
12 postaxial hand polydactyly 31 HP:0001162
13 generalized hypotonia 31 HP:0001290
14 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
absent speech
dysmetria
more
Muscle Soft Tissue:
hypotonia

Skeletal Hands:
polydactyly, postaxial

Head And Neck Eyes:
nystagmus
hyperopia

Skeletal Feet:
talipes equinovarus (in some patients)
polydactyly, postaxial

Clinical features from OMIM®:

616654 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Joubert Syndrome 24:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.19 ADCY3 AHI1 ARL13B B9D1 CEP290 IFT88
2 growth/size/body region MP:0005378 10.13 ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
3 cardiovascular system MP:0005385 10.11 ADCY3 B9D1 CEP290 IFT88 PTCH1 RPGRIP1L
4 nervous system MP:0003631 10.03 ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
5 mortality/aging MP:0010768 10.02 ADCY3 AHI1 ARL13B B9D1 CEP164 CEP290
6 embryo MP:0005380 10 ARL13B B9D1 IFT88 PTCH1 RPGRIP1L TCTN2
7 craniofacial MP:0005382 9.95 B9D1 CEP290 IFT88 PTCH1 RPGRIP1L TCTN2
8 integument MP:0010771 9.95 ADCY8 ATP6V0A2 B9D1 IFT88 NPHP1 PTCH1
9 limbs/digits/tail MP:0005371 9.85 B9D1 IFT88 PTCH1 RPGRIP1L TCTN2 TMEM231
10 renal/urinary system MP:0005367 9.81 ADCY3 AHI1 ARL13B B9D1 CEP290 IFT88
11 vision/eye MP:0005391 9.32 AHI1 ARL13B B9D1 CEP290 IFT88 NPHP1
12 taste/olfaction MP:0005394 9.26 ADCY3 ADCY8 CEP290 PTCH1

Drugs & Therapeutics for Joubert Syndrome 24

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 24

Genetic Tests for Joubert Syndrome 24

Genetic tests related to Joubert Syndrome 24:

# Genetic test Affiliating Genes
1 Joubert Syndrome 24 29 TCTN2

Anatomical Context for Joubert Syndrome 24

MalaCards organs/tissues related to Joubert Syndrome 24:

40
Eye, Brain

Publications for Joubert Syndrome 24

Articles related to Joubert Syndrome 24:

# Title Authors PMID Year
1
Tectonic gene mutations in patients with Joubert syndrome. 57 6
25118024 2015
2
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 6 57
21565611 2011
3
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 57
26092869 2015

Variations for Joubert Syndrome 24

ClinVar genetic disease variations for Joubert Syndrome 24:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCTN2 NM_024809.5(TCTN2):c.76dup (p.Asp26fs) Duplication Pathogenic 217700 rs863225222 12:124155857-124155858 12:123671310-123671311
2 TCTN2 NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) SNV Pathogenic 218100 rs863225426 12:124191376-124191376 12:123706829-123706829
3 TCTN2 NM_024809.5(TCTN2):c.703del (p.Leu235fs) Deletion Pathogenic 212389 rs760830696 12:124171521-124171521 12:123686974-123686974
4 TCTN2 NM_024809.5(TCTN2):c.1235-1G>A SNV Pathogenic 218099 rs863225425 12:124179766-124179766 12:123695219-123695219
5 TCTN2 NM_024809.5(TCTN2):c.1573G>C (p.Asp525His) SNV Uncertain significance 881783 12:124184318-124184318 12:123699771-123699771
6 TCTN2 NM_024809.5(TCTN2):c.*493T>A SNV Uncertain significance 882985 12:124192753-124192753 12:123708206-123708206
7 TCTN2 NM_024809.5(TCTN2):c.*559C>T SNV Uncertain significance 883782 12:124192819-124192819 12:123708272-123708272
8 TCTN2 NM_024809.5(TCTN2):c.*562G>C SNV Uncertain significance 883783 12:124192822-124192822 12:123708275-123708275
9 TCTN2 NM_024809.5(TCTN2):c.1872A>G (p.Ala624=) SNV Uncertain significance 882933 12:124191375-124191375 12:123706828-123706828
10 TCTN2 NM_024809.5(TCTN2):c.*290C>G SNV Uncertain significance 881834 12:124192550-124192550 12:123708003-123708003
11 TCTN2 NM_024809.5(TCTN2):c.*477G>A SNV Uncertain significance 882984 12:124192737-124192737 12:123708190-123708190
12 TCTN2 NM_024809.5(TCTN2):c.267+3A>G SNV Uncertain significance 883590 12:124156682-124156682 12:123672135-123672135
13 TCTN2 NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly) SNV Uncertain significance 883591 12:124158183-124158183 12:123673636-123673636
14 TCTN2 NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys) SNV Uncertain significance 883631 12:124171489-124171489 12:123686942-123686942
15 TCTN2 NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) SNV Uncertain significance 882885 12:124175096-124175096 12:123690549-123690549
16 TCTN2 NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) SNV Uncertain significance 697155 rs372235872 12:124179439-124179439 12:123694892-123694892
17 TCTN2 NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) SNV Uncertain significance 883681 12:124179799-124179799 12:123695252-123695252
18 TCTN2 NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) SNV Uncertain significance 883728 12:124191585-124191585 12:123707038-123707038
19 TCTN2 NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) SNV Uncertain significance 212388 rs145374149 12:124171486-124171486 12:123686939-123686939
20 TCTN2 NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) SNV Uncertain significance 217696 rs187433682 12:124179406-124179406 12:123694859-123694859
21 TCTN2 NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) SNV Uncertain significance 881226 12:124158195-124158195 12:123673648-123673648
22 TCTN2 NM_024809.5(TCTN2):c.464-7T>A SNV Uncertain significance 881227 12:124163729-124163729 12:123679182-123679182
23 TCTN2 NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) SNV Uncertain significance 881228 12:124163762-124163762 12:123679215-123679215
24 TCTN2 NM_024809.5(TCTN2):c.720C>G (p.Pro240=) SNV Uncertain significance 198261 rs149430216 12:124171538-124171538 12:123686991-123686991
25 TCTN2 NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) SNV Uncertain significance 881278 12:124171570-124171570 12:123687023-123687023
26 TCTN2 NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) SNV Uncertain significance 881279 12:124172629-124172629 12:123688082-123688082
27 TCTN2 NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) SNV Uncertain significance 881340 12:124180978-124180978 12:123696431-123696431
28 TCTN2 NM_024809.5(TCTN2):c.1393+15T>C SNV Uncertain significance 881341 12:124181057-124181057 12:123696510-123696510
29 TCTN2 NM_024809.5(TCTN2):c.1394-6T>C SNV Uncertain significance 881342 12:124181628-124181628 12:123697081-123697081
30 TCTN2 NM_024809.5(TCTN2):c.*71T>G SNV Uncertain significance 881390 12:124192331-124192331 12:123707784-123707784
31 TCTN2 NM_024809.5(TCTN2):c.*146C>T SNV Uncertain significance 881391 12:124192406-124192406 12:123707859-123707859
32 TCTN2 NM_024809.5(TCTN2):c.*608T>C SNV Uncertain significance 881451 12:124192868-124192868 12:123708321-123708321
33 TCTN2 NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) SNV Uncertain significance 881784 12:124189128-124189128 12:123704581-123704581
34 TCTN2 NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) SNV Uncertain significance 881785 12:124189165-124189165 12:123704618-123704618
35 TCTN2 NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) SNV Uncertain significance 882803 12:124155863-124155863 12:123671316-123671316
36 TCTN2 NM_024809.5(TCTN2):c.615C>A (p.Gly205=) SNV Uncertain significance 261790 rs147485641 12:124171433-124171433 12:123686886-123686886
37 TCTN2 NM_024809.5(TCTN2):c.615C>T (p.Gly205=) SNV Uncertain significance 198262 rs147485641 12:124171433-124171433 12:123686886-123686886
38 TCTN2 NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) SNV Uncertain significance 307560 rs201834126 12:124191351-124191351 12:123706804-123706804
39 TCTN2 NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) SNV Uncertain significance 307559 rs778418417 12:124191321-124191321 12:123706774-123706774
40 TCTN2 NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) SNV Uncertain significance 307558 rs372687837 12:124189178-124189178 12:123704631-123704631
41 TCTN2 NM_024809.5(TCTN2):c.813A>C (p.Ala271=) SNV Uncertain significance 307554 rs886049054 12:124172646-124172646 12:123688099-123688099
42 TCTN2 NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) SNV Uncertain significance 307557 rs886049055 12:124175080-124175080 12:123690533-123690533
43 TCTN2 NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) SNV Uncertain significance 212388 rs145374149 12:124171486-124171486 12:123686939-123686939
44 TCTN2 NM_024809.5(TCTN2):c.588G>A (p.Thr196=) SNV Uncertain significance 307549 rs201545344 12:124171406-124171406 12:123686859-123686859
45 TCTN2 NM_024809.5(TCTN2):c.*258G>C SNV Uncertain significance 307566 rs540710300 12:124192518-124192518 12:123707971-123707971
46 TCTN2 NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) SNV Uncertain significance 307544 rs137939978 12:124156614-124156614 12:123672067-123672067
47 TCTN2 NM_024809.5(TCTN2):c.*166T>G SNV Uncertain significance 307565 rs886049057 12:124192426-124192426 12:123707879-123707879
48 TCTN2 NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) SNV Uncertain significance 307553 rs151318349 12:124172609-124172609 12:123688062-123688062
49 TCTN2 NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) SNV Uncertain significance 307546 rs768824874 12:124163795-124163795 12:123679248-123679248
50 TCTN2 NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) SNV Uncertain significance 307561 rs886049056 12:124191389-124191389 12:123706842-123706842

Expression for Joubert Syndrome 24

Search GEO for disease gene expression data for Joubert Syndrome 24.

Pathways for Joubert Syndrome 24

GO Terms for Joubert Syndrome 24

Cellular components related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.01 TCTN2 RPGRIP1L NPHP1 IFT88 CEP290 CEP164
2 centrosome GO:0005813 9.91 RPGRIP1L IFT88 CEP290 CEP164 B9D1 AHI1
3 cell projection GO:0042995 9.9 TMEM231 TCTN2 RPGRIP1L NPHP1 IFT88 CEP290
4 centriole GO:0005814 9.78 IFT88 CEP290 CEP164 AHI1
5 ciliary basal body GO:0036064 9.72 RPGRIP1L IFT88 CEP290 B9D1 AHI1
6 cell-cell junction GO:0005911 9.7 RPGRIP1L NPHP1 AHI1
7 motile cilium GO:0031514 9.69 NPHP1 IFT88 ARL13B
8 photoreceptor connecting cilium GO:0032391 9.67 RPGRIP1L NPHP1 CEP290
9 ciliary membrane GO:0060170 9.67 TMEM231 TCTN2 PTCH1 ARL13B
10 ciliary transition zone GO:0035869 9.65 TMEM231 TCTN2 RPGRIP1L CEP290 B9D1
11 non-motile cilium GO:0097730 9.63 IFT88 ARL13B AHI1
12 cilium GO:0005929 9.61 TMEM231 RPGRIP1L PTCH1 NPHP1 IFT88 CEP290
13 MKS complex GO:0036038 9.02 TMEM231 TCTN2 CEP290 B9D1 AHI1

Biological processes related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 TMEM231 TCTN2 NPHP1 IFT88 CEP290 CEP164
2 in utero embryonic development GO:0001701 9.71 TMEM231 RPGRIP1L PTCH1 B9D1
3 smoothened signaling pathway GO:0007224 9.65 TMEM231 TCTN2 PTCH1 B9D1 ARL13B
4 regulation of protein localization GO:0032880 9.63 TMEM231 PTCH1 B9D1
5 camera-type eye development GO:0043010 9.61 TMEM231 RPGRIP1L B9D1
6 renal water homeostasis GO:0003091 9.6 ADCY8 ADCY3
7 cellular response to glucagon stimulus GO:0071377 9.59 ADCY8 ADCY3
8 vasculature development GO:0001944 9.58 TMEM231 B9D1
9 limb morphogenesis GO:0035108 9.58 RPGRIP1L PTCH1
10 regulation of smoothened signaling pathway GO:0008589 9.57 RPGRIP1L PTCH1
11 hindbrain development GO:0030902 9.56 CEP290 AHI1
12 activation of protein kinase A activity GO:0034199 9.55 ADCY8 ADCY3
13 cyclic nucleotide biosynthetic process GO:0009190 9.54 ADCY8 ADCY3
14 non-motile cilium assembly GO:1905515 9.54 RPGRIP1L IFT88 ARL13B
15 left/right axis specification GO:0070986 9.52 ARL13B AHI1
16 cellular response to forskolin GO:1904322 9.51 ADCY8 ADCY3
17 neural tube patterning GO:0021532 9.5 RPGRIP1L PTCH1 ARL13B
18 ciliary basal body-plasma membrane docking GO:0097711 9.5 TCTN2 RPGRIP1L NPHP1 CEP290 CEP164 B9D1
19 cAMP biosynthetic process GO:0006171 9.49 ADCY8 ADCY3
20 neuroepithelial cell differentiation GO:0060563 9.48 TMEM231 B9D1
21 cilium assembly GO:0060271 9.28 TMEM231 TCTN2 RPGRIP1L IFT88 CEP290 CEP164

Molecular functions related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorus-oxygen lyase activity GO:0016849 9.16 ADCY8 ADCY3
2 adenylate cyclase activity GO:0004016 8.96 ADCY8 ADCY3
3 hedgehog receptor activity GO:0008158 8.62 PTCH1 B9D1

Sources for Joubert Syndrome 24

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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