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 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ⁴⁴ ¹⁵ ⁷³

Cerebellooculorenal Syndrome 2 ⁵⁷ ¹² ⁵³ ⁷⁵

Jbts2 ⁵⁷ ¹² ⁵³ ⁷⁵

Cors2 ⁵⁷ ¹² ⁵³ ⁷⁵

Cerebellooculorenal Syndrome 2; Cors2 ⁵⁷

Cerebello-Oculo-Renal Syndrome 2 ⁷⁵

Joubert Syndrome, Type 2 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity

HPO:

³²

joubert syndrome 2:
Onset and clinical course phenotypic variability
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:

OMIM ⁵⁷ 608091

Disease Ontology ¹² DOID:0110988

MeSH ⁴⁴ C536294 D002526 D005124 more

MedGen ⁴² C1842577

SNOMED-CT via HPO ⁶⁹ 258211005 204958008 27272007 more

UMLS ⁷³ C1842577

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Summaries for Joubert Syndrome 2

OMIM : ⁵⁷ 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 liver, 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 : ⁷⁵ 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	29.2	APPL1 C1QTNF3 NPHP1 TMEM216 TMEM67
2	joubert syndrome 16	11.1
3	meckel syndrome, type 2	10.1	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	10.0	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	10.0	NPHP1 TMEM216 TMEM67
12	meckel syndrome, type 6	10.0	NPHP1 TMEM67
13	nephronophthisis	9.9	NPHP1 TMEM216 TMEM67
14	cystic kidney disease	9.9	NPHP1 TMEM67

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

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Symptoms & Phenotypes for Joubert Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Joubert Syndrome 2:

³² (show all 44)

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

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 ²⁹	TMEM216

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Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

⁴¹

Brain, Eye, Liver, Kidney

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Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

#	Title	Authors	Year
1	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. ( 20036350 )	Edvardson S....Elpeleg O.	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	1355.31	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20512146 20301500 21368913 (more) 20036350
2	TMEM67	Transmembrane Protein 67	Protein Coding	16.11	DISEASES inferred ¹⁵
3	NPHP1	Nephrocystin 1	Protein Coding	15.58	DISEASES inferred ¹⁵
4	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	14.86	DISEASES inferred ¹⁵
5	GLI3	GLI Family Zinc Finger 3	Protein Coding	14.75	DISEASES inferred ¹⁵
6	C1QTNF3	C1q And TNF Related 3	Protein Coding	6.58	DISEASES inferred ¹⁵
7	TSPAN4	Tetraspanin 4	Protein Coding	6.08	DISEASES inferred ¹⁵
8	RHOA	Ras Homolog Family Member A	Protein Coding	4.04	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 2

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

⁷⁵

#	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 all 50)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TMEM216	NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu)	single nucleotide variant	Pathogenic	rs201108965	GRCh37	Chromosome 11, 61161437: 61161437
2	TMEM216	NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu)	single nucleotide variant	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.34+2T> C	single nucleotide variant	Likely pathogenic	rs1057517498	GRCh37	Chromosome 11, 61160139: 61160139
14	TMEM216	NM_001173990.2(TMEM216): c.34+2T> C	single nucleotide variant	Likely pathogenic	rs1057517498	GRCh38	Chromosome 11, 61392667: 61392667
15	TMEM216	NM_001173990.2(TMEM216): c.35-2A> G	single nucleotide variant	Likely pathogenic	rs1057517528	GRCh38	Chromosome 11, 61393229: 61393229
16	TMEM216	NM_001173990.2(TMEM216): c.35-2A> G	single nucleotide variant	Likely pathogenic	rs1057517528	GRCh37	Chromosome 11, 61160701: 61160701
17	TMEM216	NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs)	deletion	Likely pathogenic	rs1057517512	GRCh37	Chromosome 11, 61161441: 61161441
18	TMEM216	NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs)	deletion	Likely pathogenic	rs1057517512	GRCh38	Chromosome 11, 61393969: 61393969
19	TMEM216	NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs)	deletion	Likely pathogenic	rs1057517516	GRCh37	Chromosome 11, 61161447: 61161447
20	TMEM216	NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs)	deletion	Likely pathogenic	rs1057517516	GRCh38	Chromosome 11, 61393975: 61393975
21	TMEM216	NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs)	duplication	Likely pathogenic	rs1057517475	GRCh38	Chromosome 11, 61393975: 61393975
22	TMEM216	NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs)	duplication	Likely pathogenic	rs1057517475	GRCh37	Chromosome 11, 61161447: 61161447
23	TMEM216	NM_001173990.2(TMEM216): c.1A> G (p.Met1Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 61160104: 61160104
24	TMEM216	NM_001173990.2(TMEM216): c.1A> G (p.Met1Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 61392632: 61392632
25	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAC	indel	Uncertain significance		GRCh37	Chromosome 11, 61165731: 61165732
26	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAC	indel	Uncertain significance		GRCh38	Chromosome 11, 61398260: 61398260
27	TMEM216	NM_001173990.2(TMEM216): c.316_317insTA (p.Tyr106Leufs)	insertion	Likely pathogenic		GRCh37	Chromosome 11, 61165332: 61165332
28	TMEM216	NM_001173990.2(TMEM216): c.316_317insTA (p.Tyr106Leufs)	insertion	Likely pathogenic		GRCh38	Chromosome 11, 61397860: 61397861
29	TMEM216	NM_001173990.2(TMEM216): c.336C> A (p.Tyr112Ter)	single nucleotide variant	Likely pathogenic	rs147267631	GRCh37	Chromosome 11, 61165352: 61165352
30	TMEM216	NM_001173990.2(TMEM216): c.336C> A (p.Tyr112Ter)	single nucleotide variant	Likely pathogenic	rs147267631	GRCh38	Chromosome 11, 61397880: 61397880
31	TMEM216	NM_001173990.2(TMEM216): c.2T> A (p.Met1Lys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 61160105: 61160105
32	TMEM216	NM_001173990.2(TMEM216): c.2T> A (p.Met1Lys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 61392633: 61392633
33	TMEM216	NM_001173990.2(TMEM216): c.34+18_34+21delTGTG	deletion	Likely benign		GRCh37	Chromosome 11, 61160151: 61160155
34	TMEM216	NM_001173990.2(TMEM216): c.34+18_34+21delTGTG	deletion	Likely benign		GRCh38	Chromosome 11, 61392683: 61392686
35	TMEM216	NM_001173990.2(TMEM216): c.137-1G> A	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 11, 61161355: 61161355
36	TMEM216	NM_001173990.2(TMEM216): c.137-1G> A	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 11, 61393883: 61393883
37	TMEM216	NM_001173990.2(TMEM216): c.230-9dup	duplication	Uncertain significance		GRCh37	Chromosome 11, 61165236: 61165236
38	TMEM216	NM_001173990.2(TMEM216): c.230-9dup	duplication	Uncertain significance		GRCh38	Chromosome 11, 61397765: 61397765
39	TMEM216	NM_001173990.2(TMEM216): c.432-10_432-8delGTAinsAGTG	indel	Uncertain significance		GRCh37	Chromosome 11, 61165731: 61165734
40	TMEM216	NM_001173990.2(TMEM216): c.432-10_432-8delGTAinsAGTG	indel	Uncertain significance		GRCh38	Chromosome 11, 61398260: 61398262
41	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAA	indel	Uncertain significance		GRCh37	Chromosome 11, 61165731: 61165732
42	TMEM216	NM_001173990.2(TMEM216): c.432-10delGinsAA	indel	Uncertain significance		GRCh38	Chromosome 11, 61398260: 61398260
43	TMEM216	NM_001173990.2(TMEM216): c.-9_11del20	deletion	Uncertain significance		GRCh37	Chromosome 11, 61160093: 61160113
44	TMEM216	NM_001173990.2(TMEM216): c.-9_11del20	deletion	Uncertain significance		GRCh38	Chromosome 11, 61392623: 61392642
45	TMEM216	NM_001173990.2(TMEM216): c.2T> C (p.Met1Thr)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 61160105: 61160105
46	TMEM216	NM_001173990.2(TMEM216): c.2T> C (p.Met1Thr)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 61392633: 61392633
47	TMEM216	NM_001173990.2(TMEM216): c.164_168del5 (p.Asn55Serfs)	deletion	Likely pathogenic		GRCh37	Chromosome 11, 61161379: 61161384
48	TMEM216	NM_001173990.2(TMEM216): c.164_168del5 (p.Asn55Serfs)	deletion	Likely pathogenic		GRCh38	Chromosome 11, 61393911: 61393915
49	TMEM216	NM_001173990.2(TMEM216): c.338dup (p.Leu114Thrfs)	duplication	Uncertain significance		GRCh37	Chromosome 11, 61165353: 61165353
50	TMEM216	NM_001173990.2(TMEM216): c.338dup (p.Leu114Thrfs)	duplication	Uncertain significance		GRCh38	Chromosome 11, 61397882: 61397882

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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 ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.06	NPHP1 TMEM216 TMEM67
2	Pathways in cancer ³⁷	11.85	APPL1 GLI3 RHOA
3	TGF-beta Signaling Pathways ⁶⁵	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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Joubert Syndrome 2:

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