Joubert Syndrome 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS6 MCID: JBR015 MIFTS: 38	Joubert Syndrome 6 (JBTS6) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Name: Joubert Syndrome 6 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ⁴⁵ ¹⁵ ⁷⁴

Jbts6 ⁵⁸ ¹² ⁷⁶

Joubert Syndrome, Type 6 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )

HPO:

³³

joubert syndrome 6:
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Respiratory diseases Eye diseases Nephrological diseases Mental diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111001

OMIM ⁵⁸ 610688

MeSH ⁴⁵ C537689 D002526 D005124 more

MedGen ⁴³ C1853153

SNOMED-CT via HPO ⁷⁰ 193662007 20239009 204958008 more

UMLS ⁷⁴ C1853153

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Summaries for Joubert Syndrome 6

OMIM : ⁵⁸ Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (610688)

MalaCards based summary : Joubert Syndrome 6, also known as jbts6, is related to meckel syndrome, type 2 and meckel syndrome, type 4, and has symptoms including ataxia An important gene associated with Joubert Syndrome 6 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney and eye, and related phenotypes are intellectual disability and ataxia

Disease Ontology : ¹² A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22.

UniProtKB/Swiss-Prot : ⁷⁶ Joubert syndrome 6: 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.

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Related Diseases for Joubert Syndrome 6

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

Diseases related to Joubert Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)

#	Related Disease	Score	Top Affiliating Genes
1	meckel syndrome, type 2	10.0	MKS1 TMEM67
2	meckel syndrome, type 4	10.0	CEP290 MKS1
3	joubert syndrome with ocular anomalies	10.0	AHI1 MKS1
4	bardet-biedl syndrome 14	10.0	CEP290 TMEM67
5	coloboma of macula	9.9	CEP290 TMEM67
6	nephronophthisis 19	9.9	NPHP1 TMEM67
7	joubert syndrome 2	9.8	NPHP1 TMEM67
8	joubert syndrome 17	9.8	CEP290 NPHP1
9	nephronophthisis 1	9.8	AHI1 NPHP1
10	retinal aplasia	9.8	CEP290 NPHP1
11	joubert syndrome 3	9.8	AHI1 NPHP1
12	nephronophthisis 16	9.8	CEP290 NPHP1
13	encephalocele	9.8	CEP290 MKS1 TMEM67
14	nephronophthisis 2	9.8	MKS1 NPHP1
15	pathologic nystagmus	9.8	CEP290 MKS1 TMEM67
16	hydrolethalus syndrome 1	9.7	AHI1 MKS1 TMEM67
17	cystic kidney disease	9.7	NPHP1 TMEM67
18	chronic kidney failure	9.5	MKS1 NPHP1
19	fundus dystrophy	9.5	AHI1 CEP290 NPHP1
20	kidney disease	9.4	CEP290 NPHP1 TMEM67
21	bardet-biedl syndrome 13	9.4	AHI1 CEP290 MKS1 TMEM67
22	leber congenital amaurosis	9.4	AHI1 CEP290 NPHP1
23	meckel syndrome, type 3	9.3	CEP290 MKS1 NPHP1 TMEM67
24	bardet-biedl syndrome	9.3	CEP290 MKS1 NPHP1 TMEM67
25	nephronophthisis 11	9.3	AHI1 CEP290 NPHP1 TMEM67
26	meckel syndrome, type 6	9.3	AHI1 MKS1 NPHP1 TMEM67
27	senior-loken syndrome 1	9.0	AHI1 CEP290 MKS1 NPHP1 TMEM67
28	meckel syndrome, type 1	9.0	AHI1 CEP290 MKS1 NPHP1 TMEM67
29	nephronophthisis	9.0	AHI1 CEP290 MKS1 NPHP1 TMEM67
30	joubert syndrome 1	9.0	AHI1 CEP290 MKS1 NPHP1 TMEM67

Graphical network of the top 20 diseases related to Joubert Syndrome 6:

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Symptoms & Phenotypes for Joubert Syndrome 6

Human phenotypes related to Joubert Syndrome 6:

³³ (show all 19)

#	Description	HPO Source Accession
1	intellectual disability ³³	HP:0001249
2	ataxia ³³	HP:0001251
3	muscular hypotonia ³³	HP:0001252
4	global developmental delay ³³	HP:0001263
5	blindness ³³	HP:0000618
6	hepatic fibrosis ³³	HP:0001395
7	chorioretinal coloboma ³³	HP:0000567
8	nephronophthisis ³³	HP:0000090
9	generalized hypotonia ³³	HP:0001290
10	oculomotor apraxia ³³	HP:0000657
11	cerebellar vermis hypoplasia ³³	HP:0001320
12	molar tooth sign on mri ³³	HP:0002419
13	stage 5 chronic kidney disease ³³	HP:0003774
14	retinal degeneration ³³	HP:0000546
15	breathing dysregulation ³³	HP:0005957
16	elongated superior cerebellar peduncle ³³	HP:0011933
17	bile duct proliferation ³³	HP:0001408
18	enlarged fossa interpeduncularis ³³	HP:0100951
19	thickened superior cerebellar peduncle ³³	HP:0002404

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
molar tooth sign on mri
developmental delay
hypotonia
more

Abdomen Liver:
hepatic fibrosis
bile duct proliferation

Respiratory:
breathing dysregulation

Head And Neck Eyes:
blindness
chorioretinal coloboma
oculomotor apraxia
retinal degeneration
abnormal eye movements

Genitourinary Kidneys:
nephronophthisis
end-stage renal failure
microcysts

Clinical features from OMIM:

610688

UMLS symptoms related to Joubert Syndrome 6:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 6:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.65	AHI1 CEP290 MKS1 NPHP1 TMEM67
2	nervous system	MP:0003631	9.55	AHI1 CEP290 MKS1 NPHP1 TMEM67
3	renal/urinary system	MP:0005367	9.35	AHI1 CEP290 MKS1 NPHP1 TMEM67
4	vision/eye	MP:0005391	8.92	AHI1 CEP290 MKS1 NPHP1

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Drugs & Therapeutics for Joubert Syndrome 6

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 6

Cochrane evidence based reviews: joubert syndrome 6

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Genetic Tests for Joubert Syndrome 6

Genetic tests related to Joubert Syndrome 6:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 6 ³⁰	TMEM67

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Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

⁴²

Kidney, Eye

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Publications for Joubert Syndrome 6

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Genes for Joubert Syndrome 6

Genes related to Joubert Syndrome 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM67	Transmembrane Protein 67	Protein Coding	1335.67	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16541367 17160906 20301500 (more) 21633164 19508969 19574260 2929661 19058225 17377820 29891882 9375913
2	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	16.97	DISEASES inferred ¹⁵
3	AHI1	Abelson Helper Integration Site 1	Protein Coding	16.23	DISEASES inferred ¹⁵
4	NPHP1	Nephrocystin 1	Protein Coding	16.01	DISEASES inferred ¹⁵
5	CEP290	Centrosomal Protein 290	Protein Coding	15.99	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 6:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	TMEM67	p.Tyr513Cys	VAR_031987	rs137853107
2	TMEM67	p.Gly545Glu	VAR_031988	rs267607114
3	TMEM67	p.Met252Thr	VAR_062313	rs202149403
4	TMEM67	p.Pro358Leu	VAR_063791	rs863225232
5	TMEM67	p.Ile833Thr	VAR_063801	rs267607119
6	TMEM67	p.Asp711Ala	VAR_075699	rs781383498

ClinVar genetic disease variations for Joubert Syndrome 6:

⁶ (show top 50) (show all 104)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TMEM67	NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797046045	GRCh37	Chromosome 8, 94768079: 94768079
2	TMEM67	NM_153704.5(TMEM67): c.297G> T (p.Lys99Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs797046045	GRCh38	Chromosome 8, 93755851: 93755851
3	TMEM67	NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs775883520	GRCh37	Chromosome 8, 94792831: 94792831
4	TMEM67	NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs775883520	GRCh38	Chromosome 8, 93780603: 93780603
5	TMEM67	NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser)	single nucleotide variant	Pathogenic	rs762543032	GRCh38	Chromosome 8, 93755798: 93755798
6	TMEM67	NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser)	single nucleotide variant	Pathogenic	rs762543032	GRCh37	Chromosome 8, 94768026: 94768026
7	TMEM67	NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs772437766	GRCh38	Chromosome 8, 93755799: 93755799
8	TMEM67	NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs772437766	GRCh37	Chromosome 8, 94768027: 94768027
9	TMEM67	NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter)	single nucleotide variant	Pathogenic	rs751309268	GRCh38	Chromosome 8, 93755854: 93755854
10	TMEM67	NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter)	single nucleotide variant	Pathogenic	rs751309268	GRCh37	Chromosome 8, 94768082: 94768082
11	TMEM67	NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg)	single nucleotide variant	Pathogenic	rs863225226	GRCh38	Chromosome 8, 93758559: 93758559
12	TMEM67	NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg)	single nucleotide variant	Pathogenic	rs863225226	GRCh37	Chromosome 8, 94770787: 94770787
13	TMEM67	NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln)	single nucleotide variant	Pathogenic	rs750950408	GRCh38	Chromosome 8, 93765414: 93765414
14	TMEM67	NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln)	single nucleotide variant	Pathogenic	rs750950408	GRCh37	Chromosome 8, 94777642: 94777642
15	TMEM67	NM_153704.5(TMEM67): c.730A> G (p.Thr244Ala)	single nucleotide variant	Pathogenic	rs863225229	GRCh38	Chromosome 8, 93780608: 93780608
16	TMEM67	NM_153704.5(TMEM67): c.730A> G (p.Thr244Ala)	single nucleotide variant	Pathogenic	rs863225229	GRCh37	Chromosome 8, 94792836: 94792836
17	TMEM67	NM_153704.5(TMEM67): c.769A> G (p.Met257Val)	single nucleotide variant	Pathogenic	rs863225227	GRCh38	Chromosome 8, 93780647: 93780647
18	TMEM67	NM_153704.5(TMEM67): c.769A> G (p.Met257Val)	single nucleotide variant	Pathogenic	rs863225227	GRCh37	Chromosome 8, 94792875: 94792875
19	TMEM67	NM_153704.5(TMEM67): c.978+3A> G	single nucleotide variant	Pathogenic	rs775256658	GRCh38	Chromosome 8, 93780985: 93780985
20	TMEM67	NM_153704.5(TMEM67): c.978+3A> G	single nucleotide variant	Pathogenic	rs775256658	GRCh37	Chromosome 8, 94793213: 94793213
21	TMEM67	NM_153704.5(TMEM67): c.1073C> T (p.Pro358Leu)	single nucleotide variant	Pathogenic	rs863225232	GRCh38	Chromosome 8, 93782402: 93782402
22	TMEM67	NM_153704.5(TMEM67): c.1073C> T (p.Pro358Leu)	single nucleotide variant	Pathogenic	rs863225232	GRCh37	Chromosome 8, 94794630: 94794630
23	TMEM67	NM_153704.5(TMEM67): c.1081G> T (p.Glu361Ter)	single nucleotide variant	Pathogenic	rs863225237	GRCh38	Chromosome 8, 93782410: 93782410
24	TMEM67	NM_153704.5(TMEM67): c.1081G> T (p.Glu361Ter)	single nucleotide variant	Pathogenic	rs863225237	GRCh37	Chromosome 8, 94794638: 94794638
25	TMEM67	NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863225235	GRCh38	Chromosome 8, 93782444: 93782444
26	TMEM67	NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863225235	GRCh37	Chromosome 8, 94794672: 94794672
27	TMEM67	NM_153704.5(TMEM67): c.1126C> G (p.Gln376Glu)	single nucleotide variant	Pathogenic	rs863225231	GRCh38	Chromosome 8, 93782455: 93782455
28	TMEM67	NM_153704.5(TMEM67): c.1126C> G (p.Gln376Glu)	single nucleotide variant	Pathogenic	rs863225231	GRCh37	Chromosome 8, 94794683: 94794683
29	TMEM67	NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs752362727	GRCh38	Chromosome 8, 93786255: 93786255
30	TMEM67	NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs752362727	GRCh37	Chromosome 8, 94798483: 94798483
31	TMEM67	NM_153704.5(TMEM67): c.1351C> T (p.Arg451Ter)	single nucleotide variant	Pathogenic	rs116647652	GRCh38	Chromosome 8, 93786285: 93786285
32	TMEM67	NM_153704.5(TMEM67): c.1351C> T (p.Arg451Ter)	single nucleotide variant	Pathogenic	rs116647652	GRCh37	Chromosome 8, 94798513: 94798513
33	TMEM67	NM_153704.5(TMEM67): c.1453C> T (p.Pro485Ser)	single nucleotide variant	Pathogenic	rs863225228	GRCh38	Chromosome 8, 93787884: 93787884
34	TMEM67	NM_153704.5(TMEM67): c.1453C> T (p.Pro485Ser)	single nucleotide variant	Pathogenic	rs863225228	GRCh37	Chromosome 8, 94800112: 94800112
35	TMEM67	NM_153704.5(TMEM67): c.1674+3A> G	single nucleotide variant	Pathogenic	rs863225224	GRCh38	Chromosome 8, 93793299: 93793299
36	TMEM67	NM_153704.5(TMEM67): c.1674+3A> G	single nucleotide variant	Pathogenic	rs863225224	GRCh37	Chromosome 8, 94805527: 94805527
37	TMEM67	NM_153704.5(TMEM67): c.1911C> A (p.Phe637Leu)	single nucleotide variant	Pathogenic	rs863225225	GRCh37	Chromosome 8, 94809412: 94809412
38	TMEM67	NM_153704.5(TMEM67): c.1911C> A (p.Phe637Leu)	single nucleotide variant	Pathogenic	rs863225225	GRCh38	Chromosome 8, 93797184: 93797184
39	TMEM67	NM_153704.5(TMEM67): c.2086C> T (p.Leu696Phe)	single nucleotide variant	Likely pathogenic	rs863225238	GRCh38	Chromosome 8, 93797456: 93797456
40	TMEM67	NM_153704.5(TMEM67): c.2086C> T (p.Leu696Phe)	single nucleotide variant	Likely pathogenic	rs863225238	GRCh37	Chromosome 8, 94809684: 94809684
41	TMEM67	NM_153704.5(TMEM67): c.2290C> T (p.Arg764Ter)	single nucleotide variant	Pathogenic	rs751517725	GRCh38	Chromosome 8, 93803652: 93803652
42	TMEM67	NM_153704.5(TMEM67): c.2290C> T (p.Arg764Ter)	single nucleotide variant	Pathogenic	rs751517725	GRCh37	Chromosome 8, 94815880: 94815880
43	TMEM67	NM_153704.5(TMEM67): c.2322+5delG	deletion	Likely pathogenic	rs863225240	GRCh38	Chromosome 8, 93803689: 93803689
44	TMEM67	NM_153704.5(TMEM67): c.2322+5delG	deletion	Likely pathogenic	rs863225240	GRCh37	Chromosome 8, 94815917: 94815917
45	TMEM67	NM_153704.5(TMEM67): c.2368C> A (p.His790Asn)	single nucleotide variant	Pathogenic	rs863225230	GRCh37	Chromosome 8, 94817035: 94817035
46	TMEM67	NM_153704.5(TMEM67): c.2368C> A (p.His790Asn)	single nucleotide variant	Pathogenic	rs863225230	GRCh38	Chromosome 8, 93804807: 93804807
47	TMEM67	NM_153704.5(TMEM67): c.2522A> C (p.Gln841Pro)	single nucleotide variant	Pathogenic	rs863225234	GRCh38	Chromosome 8, 93808922: 93808922
48	TMEM67	NM_153704.5(TMEM67): c.2522A> C (p.Gln841Pro)	single nucleotide variant	Pathogenic	rs863225234	GRCh37	Chromosome 8, 94821150: 94821150
49	TMEM67	NM_153704.5(TMEM67): c.2661+5G> A	single nucleotide variant	Likely pathogenic	rs863225239	GRCh38	Chromosome 8, 93809166: 93809166
50	TMEM67	NM_153704.5(TMEM67): c.2661+5G> A	single nucleotide variant	Likely pathogenic	rs863225239	GRCh37	Chromosome 8, 94821394: 94821394

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Expression for Joubert Syndrome 6

Search GEO for disease gene expression data for Joubert Syndrome 6.

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Pathways for Joubert Syndrome 6

Pathways related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁷ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁷ AURKA Activation by TPX2 ⁶⁷ Centrosome maturation ⁶⁷ G2/M Transition ⁶⁷ Interaction between PHLDA1 and AURKA ⁶⁷ Loss of Nlp from mitotic centrosomes ⁶⁷ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁷ Mitotic G2-G2/M phases ⁶⁷ Polo-like kinase mediated events ⁶⁷ Recruitment of mitotic centrosome proteins and complexes ⁶⁷ Recruitment of NuMA to mitotic centrosomes ⁶⁷	12.34	AHI1 CEP290 MKS1 NPHP1 TMEM67
2	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	11.75	AHI1 CEP290 MKS1 NPHP1 TMEM67
3	Ectoderm Differentiation ¹	11.31	AHI1 MKS1

Sources

GO Terms for Joubert Syndrome 6

Cellular components related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.72	AHI1 CEP290 MKS1 NPHP1 TMEM67
2	centrosome	GO:0005813	9.67	AHI1 CEP290 MKS1 TMEM67
3	cell projection	GO:0042995	9.65	AHI1 CEP290 MKS1 NPHP1 TMEM67
4	centriole	GO:0005814	9.61	AHI1 CEP290 MKS1
5	ciliary basal body	GO:0036064	9.58	AHI1 CEP290 MKS1
6	cell-cell junction	GO:0005911	9.49	AHI1 NPHP1
7	adherens junction	GO:0005912	9.48	AHI1 NPHP1
8	photoreceptor connecting cilium	GO:0032391	9.46	CEP290 NPHP1
9	cilium	GO:0005929	9.35	AHI1 CEP290 MKS1 NPHP1 TMEM67
10	ciliary transition zone	GO:0035869	9.33	CEP290 MKS1 TMEM67
11	MKS complex	GO:0036038	8.92	AHI1 CEP290 MKS1 TMEM67

Biological processes related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium assembly	GO:0060271	9.46	AHI1 CEP290 MKS1 TMEM67
2	cell projection organization	GO:0030030	9.35	AHI1 CEP290 MKS1 NPHP1 TMEM67
3	hindbrain development	GO:0030902	9.26	AHI1 CEP290
4	ciliary basal body-plasma membrane docking	GO:0097711	9.02	AHI1 CEP290 MKS1 NPHP1 TMEM67

Sources

Sources for Joubert Syndrome 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Joubert Syndrome 6 (JBTS6)

Aliases & Classifications for Joubert Syndrome 6

MalaCards integrated aliases for Joubert Syndrome 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 6

Related Diseases for Joubert Syndrome 6

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Joubert Syndrome 6:

Symptoms & Phenotypes for Joubert Syndrome 6

Human phenotypes related to Joubert Syndrome 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Joubert Syndrome 6:

MGI Mouse Phenotypes related to Joubert Syndrome 6:

Drugs & Therapeutics for Joubert Syndrome 6

Cochrane evidence based reviews: joubert syndrome 6

Genetic Tests for Joubert Syndrome 6

Genetic tests related to Joubert Syndrome 6:

Anatomical Context for Joubert Syndrome 6

MalaCards organs/tissues related to Joubert Syndrome 6:

Publications for Joubert Syndrome 6

Genes for Joubert Syndrome 6

Genes related to Joubert Syndrome 6 (1 elite genes):

Variations for Joubert Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 6:

ClinVar genetic disease variations for Joubert Syndrome 6:

Expression for Joubert Syndrome 6

Pathways for Joubert Syndrome 6

Pathways related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 6

Cellular components related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 6 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 6