Joubert Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS2 MCID: JBR004 MIFTS: 40	Joubert Syndrome 2 (JBTS2) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Name: Joubert Syndrome 2 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁶ ⁴⁵ ¹⁵ ⁷⁴

Cerebellooculorenal Syndrome 2 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Jbts2 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Cors2 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Cerebellooculorenal Syndrome 2; Cors2 ⁵⁸

Cerebello-Oculo-Renal Syndrome 2 ⁷⁶

Joubert Syndrome, Type 2 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity

HPO:

³³

joubert syndrome 2:
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110988

OMIM ⁵⁸ 608091

MeSH ⁴⁵ C536294 D002526 D005124 more

MedGen ⁴³ C1842577

SNOMED-CT via HPO ⁷⁰ 16596007 17541006 193662007 more

UMLS ⁷⁴ C1842577

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Summaries for Joubert Syndrome 2

OMIM : ⁵⁸ Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of 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 (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999). (608091)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to joubert syndrome 1 and joubert syndrome 16, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Pathways in cancer. Affiliated tissues include brain, eye and kidney, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : ¹² A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2.

UniProtKB/Swiss-Prot : ⁷⁶ Joubert syndrome 2: 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 2

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

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	joubert syndrome 1	28.8	APPL1 C1QTNF3 NPHP1 TMEM216 TMEM67
2	joubert syndrome 16	11.2
3	meckel syndrome, type 2	10.2	TMEM216 TMEM67
4	joubert syndrome 6	10.1	NPHP1 TMEM67
5	nephronophthisis 19	10.1	NPHP1 TMEM67
6	joubert syndrome 3	10.1	APPL1 NPHP1
7	meckel syndrome, type 3	10.1	NPHP1 TMEM67
8	nephronophthisis 11	10.0	NPHP1 TMEM67
9	senior-loken syndrome 1	10.0	NPHP1 TMEM216 TMEM67
10	cogan syndrome	10.0	APPL1 NPHP1
11	meckel syndrome, type 1	9.9	NPHP1 TMEM216 TMEM67
12	meckel syndrome, type 6	9.9	NPHP1 TMEM67
13	nephronophthisis	9.9	NPHP1 TMEM216 TMEM67
14	cystic kidney disease	9.8	NPHP1 TMEM67

Graphical network of the top 20 diseases related to Joubert Syndrome 2:

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Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

³³ (show all 44)

#	Description	HPO Source Accession
1	macrocephaly ³³	HP:0000256
2	hypertelorism ³³	HP:0000316
3	low-set ears ³³	HP:0000369
4	frontal bossing ³³	HP:0002007
5	high palate ³³	HP:0000218
6	hydrocephalus ³³	HP:0000238
7	nystagmus ³³	HP:0000639
8	intellectual disability ³³	HP:0001249
9	ataxia ³³	HP:0001251
10	muscular hypotonia ³³	HP:0001252
11	failure to thrive ³³	HP:0001508
12	global developmental delay ³³	HP:0001263
13	depressed nasal bridge ³³	HP:0005280
14	visual impairment ³³	HP:0000505
15	abnormal renal physiology ³³	HP:0012211
16	dolichocephaly ³³	HP:0000268
17	abnormality of the foot ³³	HP:0001760
18	chorioretinal coloboma ³³	HP:0000567
19	microphthalmia ³³	HP:0000568
20	optic nerve coloboma ³³	HP:0000588
21	nephronophthisis ³³	HP:0000090
22	postaxial hand polydactyly ³³	HP:0001162
23	encephalocele ³³	HP:0002084
24	generalized hypotonia ³³	HP:0001290
25	oculomotor apraxia ³³	HP:0000657
26	dysgenesis of the cerebellar vermis ³³	HP:0002195
27	renal cyst ³³	HP:0000107
28	retinal dystrophy ³³	HP:0000556
29	molar tooth sign on mri ³³	HP:0002419
30	episodic tachypnea ³³	HP:0002876
31	esotropia ³³	HP:0000565
32	central apnea ³³	HP:0002871
33	abnormality of ocular smooth pursuit ³³	HP:0000617
34	impaired smooth pursuit ³³	HP:0007772
35	hypoplastic male external genitalia ³³	HP:0000050
36	agenesis of cerebellar vermis ³³	HP:0002335
37	hypoplasia of the brainstem ³³	HP:0002365
38	elongated superior cerebellar peduncle ³³	HP:0011933
39	brainstem dysplasia ³³	HP:0002508
40	neonatal breathing dysregulation ³³	HP:0002790
41	abnormal saccadic eye movements ³³	HP:0000570
42	enlarged fossa interpeduncularis ³³	HP:0100951
43	abnormal corpus callosum morphology ³³	HP:0001273
44	thickened superior cerebellar peduncle ³³	HP:0002404

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
macrocephaly
dolichocephaly

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
hydrocephalus
ataxia
encephalocele
hypoplasia of the brainstem
hypotonia
more

Head And Neck Nose:
depressed nasal bridge

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Abdomen Gastrointestinal:
poor feeding in infancy
swallowing and chewing difficulties

Skeletal Hands:
polydactyly, postaxial

Head And Neck Eyes:
hypertelorism
nystagmus
visual impairment
chorioretinal coloboma
microphthalmia
more

Head And Neck Face:
frontal bossing

Growth Other:
failure to thrive

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function (variable)

Head And Neck Mouth:
high-arched palate

Genitourinary External Genitalia Male:
hypoplastic genitalia

Skeletal Feet:
polydactyly, postaxial

Clinical features from OMIM:

608091

UMLS symptoms related to Joubert Syndrome 2:

ataxia

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Drugs & Therapeutics for Joubert Syndrome 2

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

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Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 2 ³⁰	TMEM216

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Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

⁴²

Brain, Eye, Kidney, Liver

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Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

#	Title	Authors	Year
1	Clinical utility gene card for: Meckel syndrome. ( 21368913 )	Salonen R...Bergmann C	2011
2	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. ( 20036350 )	Edvardson S...Elpeleg O	2010
3	Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. ( 20512146 )	Valente EM...Gleeson JG	2010

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Genes for Joubert Syndrome 2

Genes related to Joubert Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM216	Transmembrane Protein 216	Protein Coding	1356.15	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20512146 20301500 21368913 (more) 20036350
2	TMEM67	Transmembrane Protein 67	Protein Coding	16.24	DISEASES inferred ¹⁵
3	NPHP1	Nephrocystin 1	Protein Coding	15.62	DISEASES inferred ¹⁵
4	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	14.87	DISEASES inferred ¹⁵
5	GLI3	GLI Family Zinc Finger 3	Protein Coding	14.76	DISEASES inferred ¹⁵
6	C1QTNF3	C1q And TNF Related 3	Protein Coding	6.56	DISEASES inferred ¹⁵
7	TSPAN4	Tetraspanin 4	Protein Coding	6.11	DISEASES inferred ¹⁵
8	RHOA	Ras Homolog Family Member A	Protein Coding	4.03	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 2:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	TMEM216	p.Arg73Leu	VAR_063388	rs201108965
2	TMEM216	p.Arg73Cys	VAR_064028	rs779526456
3	TMEM216	p.Arg73His	VAR_064029	rs201108965
4	TMEM216	p.Leu89Phe	VAR_068170	rs780098806

ClinVar genetic disease variations for Joubert Syndrome 2:

⁶ (show top 50) (show all 52)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TMEM216	NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201108965	GRCh37	Chromosome 11, 61161437: 61161437
2	TMEM216	NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201108965	GRCh38	Chromosome 11, 61393965: 61393965
3	TMEM216	NM_001173990.2(TMEM216): c.218G> A (p.Arg73His)	single nucleotide variant	Pathogenic	rs201108965	GRCh37	Chromosome 11, 61161437: 61161437
4	TMEM216	NM_001173990.2(TMEM216): c.218G> A (p.Arg73His)	single nucleotide variant	Pathogenic	rs201108965	GRCh38	Chromosome 11, 61393965: 61393965
5	TMEM216	NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs11230683	GRCh37	Chromosome 11, 61165269: 61165269
6	TMEM216	NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs11230683	GRCh38	Chromosome 11, 61397797: 61397797
7	TMEM216	NM_001173990.2(TMEM216): c.216T> C (p.Ile72=)	single nucleotide variant	Likely pathogenic	rs541666319	GRCh38	Chromosome 11, 61393963: 61393963
8	TMEM216	NM_001173990.2(TMEM216): c.216T> C (p.Ile72=)	single nucleotide variant	Likely pathogenic	rs541666319	GRCh37	Chromosome 11, 61161435: 61161435
9	TMEM216	NM_001173990.2(TMEM216): c.217C> T (p.Arg73Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779526456	GRCh38	Chromosome 11, 61393964: 61393964
10	TMEM216	NM_001173990.2(TMEM216): c.217C> T (p.Arg73Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779526456	GRCh37	Chromosome 11, 61161436: 61161436
11	TMEM216	NM_001173990.2(TMEM216): c.398T> G (p.Leu133Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs755459875	GRCh38	Chromosome 11, 61397942: 61397942
12	TMEM216	NM_001173990.2(TMEM216): c.398T> G (p.Leu133Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs755459875	GRCh37	Chromosome 11, 61165414: 61165414
13	TMEM216	NM_001173990.2(TMEM216): c.140T> C (p.Val47Ala)	single nucleotide variant	Uncertain significance	rs762918371	GRCh37	Chromosome 11, 61161359: 61161359
14	TMEM216	NM_001173990.2(TMEM216): c.140T> C (p.Val47Ala)	single nucleotide variant	Uncertain significance	rs762918371	GRCh38	Chromosome 11, 61393887: 61393887
15	TMEM216	NM_001173990.2(TMEM216): c.34+2T> C	single nucleotide variant	Likely pathogenic	rs1057517498	GRCh37	Chromosome 11, 61160139: 61160139
16	TMEM216	NM_001173990.2(TMEM216): c.34+2T> C	single nucleotide variant	Likely pathogenic	rs1057517498	GRCh38	Chromosome 11, 61392667: 61392667
17	TMEM216	NM_001173990.2(TMEM216): c.35-2A> G	single nucleotide variant	Likely pathogenic	rs1057517528	GRCh38	Chromosome 11, 61393229: 61393229
18	TMEM216	NM_001173990.2(TMEM216): c.35-2A> G	single nucleotide variant	Likely pathogenic	rs1057517528	GRCh37	Chromosome 11, 61160701: 61160701
19	TMEM216	NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs)	deletion	Likely pathogenic	rs1057517512	GRCh37	Chromosome 11, 61161441: 61161441
20	TMEM216	NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs)	deletion	Likely pathogenic	rs1057517512	GRCh38	Chromosome 11, 61393969: 61393969
21	TMEM216	NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs)	deletion	Likely pathogenic	rs767384710	GRCh37	Chromosome 11, 61161447: 61161447
22	TMEM216	NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs)	deletion	Likely pathogenic	rs767384710	GRCh38	Chromosome 11, 61393975: 61393975
23	TMEM216	NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs)	duplication	Likely pathogenic	rs767384710	GRCh38	Chromosome 11, 61393975: 61393975
24	TMEM216	NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs)	duplication	Likely pathogenic	rs767384710	GRCh37	Chromosome 11, 61161447: 61161447
25	TMEM216	NM_001173990.2(TMEM216): c.1A> G (p.Met1Val)	single nucleotide variant	Uncertain significance	rs1287246452	GRCh37	Chromosome 11, 61160104: 61160104
26	TMEM216	NM_001173990.2(TMEM216): c.1A> G (p.Met1Val)	single nucleotide variant	Uncertain significance	rs1287246452	GRCh38	Chromosome 11, 61392632: 61392632
27	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAC	indel	Uncertain significance	rs1554973021	GRCh37	Chromosome 11, 61165731: 61165732
28	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAC	indel	Uncertain significance	rs1554973021	GRCh38	Chromosome 11, 61398260: 61398260
29	TMEM216	NM_001173990.2(TMEM216): c.316_317insTA (p.Tyr106Leufs)	insertion	Likely pathogenic	rs1554972958	GRCh37	Chromosome 11, 61165332: 61165332
30	TMEM216	NM_001173990.2(TMEM216): c.316_317insTA (p.Tyr106Leufs)	insertion	Likely pathogenic	rs1554972958	GRCh38	Chromosome 11, 61397860: 61397861
31	TMEM216	NM_001173990.2(TMEM216): c.336C> A (p.Tyr112Ter)	single nucleotide variant	Likely pathogenic	rs147267631	GRCh37	Chromosome 11, 61165352: 61165352
32	TMEM216	NM_001173990.2(TMEM216): c.336C> A (p.Tyr112Ter)	single nucleotide variant	Likely pathogenic	rs147267631	GRCh38	Chromosome 11, 61397880: 61397880
33	TMEM216	NM_001173990.2(TMEM216): c.2T> A (p.Met1Lys)	single nucleotide variant	Uncertain significance	rs1554972406	GRCh37	Chromosome 11, 61160105: 61160105
34	TMEM216	NM_001173990.2(TMEM216): c.2T> A (p.Met1Lys)	single nucleotide variant	Uncertain significance	rs1554972406	GRCh38	Chromosome 11, 61392633: 61392633
35	TMEM216	NM_001173990.2(TMEM216): c.34+18_34+21delTGTG	deletion	Likely benign	rs940443692	GRCh37	Chromosome 11, 61160151: 61160155
36	TMEM216	NM_001173990.2(TMEM216): c.34+18_34+21delTGTG	deletion	Likely benign	rs940443692	GRCh38	Chromosome 11, 61392683: 61392686
37	TMEM216	NM_001173990.2(TMEM216): c.137-1G> A	single nucleotide variant	Likely pathogenic	rs1554972547	GRCh37	Chromosome 11, 61161355: 61161355
38	TMEM216	NM_001173990.2(TMEM216): c.137-1G> A	single nucleotide variant	Likely pathogenic	rs1554972547	GRCh38	Chromosome 11, 61393883: 61393883
39	TMEM216	NM_001173990.2(TMEM216): c.230-9dup	duplication	Uncertain significance	rs1554972934	GRCh37	Chromosome 11, 61165236: 61165236
40	TMEM216	NM_001173990.2(TMEM216): c.230-9dup	duplication	Uncertain significance	rs1554972934	GRCh38	Chromosome 11, 61397765: 61397765
41	TMEM216	NM_001173990.2(TMEM216): c.432-10_432-8delGTAinsAGTG	indel	Uncertain significance	rs1554973024	GRCh37	Chromosome 11, 61165731: 61165734
42	TMEM216	NM_001173990.2(TMEM216): c.432-10_432-8delGTAinsAGTG	indel	Uncertain significance	rs1554973024	GRCh38	Chromosome 11, 61398260: 61398262
43	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAA	indel	Uncertain significance	rs1554973021	GRCh37	Chromosome 11, 61165731: 61165732
44	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAA	indel	Uncertain significance	rs1554973021	GRCh38	Chromosome 11, 61398260: 61398260
45	TMEM216	NM_001173990.2(TMEM216): c.-9_11del20	deletion	Uncertain significance	rs1554972400	GRCh37	Chromosome 11, 61160093: 61160113
46	TMEM216	NM_001173990.2(TMEM216): c.-9_11del20	deletion	Uncertain significance	rs1554972400	GRCh38	Chromosome 11, 61392623: 61392642
47	TMEM216	NM_001173990.2(TMEM216): c.2T> C (p.Met1Thr)	single nucleotide variant	Uncertain significance	rs1554972406	GRCh37	Chromosome 11, 61160105: 61160105
48	TMEM216	NM_001173990.2(TMEM216): c.2T> C (p.Met1Thr)	single nucleotide variant	Uncertain significance	rs1554972406	GRCh38	Chromosome 11, 61392633: 61392633
49	TMEM216	NM_001173990.2(TMEM216): c.164_168del5 (p.Asn55Serfs)	deletion	Likely pathogenic	rs1554972556	GRCh37	Chromosome 11, 61161379: 61161384
50	TMEM216	NM_001173990.2(TMEM216): c.164_168del5 (p.Asn55Serfs)	deletion	Likely pathogenic	rs1554972556	GRCh38	Chromosome 11, 61393911: 61393915

Sources

Expression for Joubert Syndrome 2

Search GEO for disease gene expression data for Joubert Syndrome 2.

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Pathways for Joubert Syndrome 2

Pathways related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁷ Show member pathways Cilium Assembly ⁶⁷	12.06	NPHP1 TMEM216 TMEM67
2	Pathways in cancer ³⁸	11.86	APPL1 GLI3 RHOA
3	TGF-beta Signaling Pathways ⁶⁶	10.61	GLI3 RHOA

Sources

GO Terms for Joubert Syndrome 2

Cellular components related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.62	NPHP1 RHOA TMEM216 TMEM67
2	cell projection	GO:0042995	9.35	GLI3 NPHP1 RHOA TMEM216 TMEM67
3	ciliary transition zone	GO:0035869	9.26	TMEM216 TMEM67
4	MKS complex	GO:0036038	9.16	TMEM216 TMEM67
5	cilium	GO:0005929	8.92	GLI3 NPHP1 TMEM216 TMEM67

Biological processes related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection organization	GO:0030030	9.43	NPHP1 TMEM216 TMEM67
2	negative regulation of neuron differentiation	GO:0045665	9.32	GLI3 RHOA
3	positive regulation of alpha-beta T cell differentiation	GO:0046638	9.16	GLI3 RHOA
4	ciliary basal body-plasma membrane docking	GO:0097711	9.13	NPHP1 TMEM216 TMEM67
5	forebrain radial glial cell differentiation	GO:0021861	8.62	GLI3 RHOA

Sources

Sources for Joubert Syndrome 2

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 2 (JBTS2)

Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 2

Related Diseases for Joubert Syndrome 2

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Joubert Syndrome 2:

Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Joubert Syndrome 2:

Drugs & Therapeutics for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

Genes for Joubert Syndrome 2

Genes related to Joubert Syndrome 2 (1 elite genes):

Variations for Joubert Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 2:

ClinVar genetic disease variations for Joubert Syndrome 2:

Expression for Joubert Syndrome 2

Pathways for Joubert Syndrome 2

Pathways related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 2

Cellular components related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 2