Joubert Syndrome 20 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS20 MCID: JBR022 MIFTS: 36	Joubert Syndrome 20 (JBTS20) 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 Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Joubert Syndrome 20

MalaCards integrated aliases for Joubert Syndrome 20:

Name: Joubert Syndrome 20 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Jbts20 ⁵⁷ ¹² ⁷²

Joubert Syndrome, Type 20 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families of french-canadian origin have been reported (last curated december 2012)

HPO:

³¹

joubert syndrome 20:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110989

OMIM® ⁵⁷ 614970

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ D002526 D005124 D052177

MedGen ⁴¹ C3554235 CN162975

SNOMED-CT via HPO ⁶⁸ 130968006 193662007 224958001 more

UMLS ⁷⁰ C3554235

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Summaries for Joubert Syndrome 20

UniProtKB/Swiss-Prot : ⁷² Joubert syndrome 20: 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 20, also known as jbts20, is related to galloway-mowat syndrome 2 and meckel syndrome, type 7. An important gene associated with Joubert Syndrome 20 is TMEM231 (Transmembrane Protein 231). Affiliated tissues include eye and liver, and related phenotypes are respiratory insufficiency and global developmental delay

Disease Ontology : ¹² A Joubert syndrome that has material basis in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.

More information from OMIM: 614970 PS213300

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Related Diseases for Joubert Syndrome 20

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

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	galloway-mowat syndrome 2	10.1	MIR142 MIR103A1
2	meckel syndrome, type 7	10.0	TMEM237 TMEM231
3	ciliopathy	9.8	TMEM231 NPHP4
4	nephronophthisis 12	9.8	TMEM237 NPHP4
5	joubert syndrome 15	9.8	TMEM237 TMEM231 NPHP4
6	meckel syndrome, type 2	9.7	TMEM237 TMEM231 NPHP4
7	joubert syndrome 4	9.7	TMEM237 NPHP4
8	meckel syndrome, type 3	9.7	TMEM237 TMEM231 NPHP4
9	meckel syndrome, type 4	9.7	TMEM237 TMEM231 NPHP4
10	coach syndrome 1	9.7	TMEM237 TMEM231 NPHP4
11	arima syndrome	9.7	TMEM237 TMEM231 NPHP4
12	coloboma of macula	9.7	TMEM237 TMEM231 NPHP4
13	asphyxiating thoracic dystrophy	9.6	TMEM237 TMEM231 NPHP4
14	orofaciodigital syndrome	9.6	TMEM231 TMEM17 TMEM107
15	orofaciodigital syndrome vi	9.6	TMEM237 TMEM231 TMEM17
16	joubert syndrome 1	9.5	TMEM237 TMEM231 TMEM107 NPHP4
17	fundus dystrophy	9.2	TMEM237 TMEM231 TMEM107 NPHP4
18	joubert syndrome 14	9.1	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
19	meckel syndrome, type 5	9.1	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
20	meckel syndrome, type 6	9.1	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
21	meckel syndrome, type 1	9.1	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
22	nephronophthisis	9.1	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4

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

Sources

Symptoms & Phenotypes for Joubert Syndrome 20

Human phenotypes related to Joubert Syndrome 20:

³¹ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	respiratory insufficiency ³¹	obligate (100%)	HP:0002093
2	global developmental delay ³¹	obligate (100%)	HP:0001263
3	absent speech ³¹	obligate (100%)	HP:0001344
4	molar tooth sign on mri ³¹	obligate (100%)	HP:0002419
5	oculomotor apraxia ³¹	obligate (100%)	HP:0000657
6	renal cyst ³¹	frequent (33%)	HP:0000107
7	aggressive behavior ³¹	frequent (33%)	HP:0000718
8	self-mutilation ³¹	frequent (33%)	HP:0000742
9	abnormal retinal morphology ³¹	frequent (33%)	HP:0000479
10	postaxial polydactyly ³¹	frequent (33%)	HP:0100259
11	retinopathy ³¹	occasional (7.5%)	HP:0000488
12	syndactyly ³¹	occasional (7.5%)	HP:0001159

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Eyes:
oculomotor apraxia
retinopathy (in some patients)

Neurologic Central Nervous System:
molar tooth sign seen on mri
delayed psychomotor development, severe
lack of speech
lack of independent ambulation

Respiratory:
breathing abnormalities

Skeletal Feet:
syndactyly (in some patients)
postaxial polydactyly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)

Genitourinary Kidneys:
renal cysts (in some patients)

Clinical features from OMIM®:

614970 (Updated 20-May-2021)

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Drugs & Therapeutics for Joubert Syndrome 20

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 20

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Genetic Tests for Joubert Syndrome 20

Genetic tests related to Joubert Syndrome 20:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 20 ²⁹	TMEM231

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Anatomical Context for Joubert Syndrome 20

MalaCards organs/tissues related to Joubert Syndrome 20:

⁴⁰

Eye, Liver

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Publications for Joubert Syndrome 20

Articles related to Joubert Syndrome 20:

#	Title	Authors	PMID	Year
1	Mutations in TMEM231 cause Joubert syndrome in French Canadians. ⁵⁷ ⁶	Srour M...Michaud JL	23012439	2012
2	TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. ⁶	Maglic D...Gunay-Aygun M	27449316	2016
3	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. ⁶	Roberson EC...Reiter JF	25869670	2015
4	A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. ⁵⁷	Chih B...Peterson AS	22179047	2011
5	Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. ⁶	Buratti E...Vorechovsky I	17576681	2007
6	Statistical features of human exons and their flanking regions. ⁶	Zhang MQ	9536098	1998
7	TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. ⁶¹	Lambacher NJ...Blacque OE	26595381	2016

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Genes for Joubert Syndrome 20

Genes related to Joubert Syndrome 20 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TMEM231	Transmembrane Protein 231	Protein Coding	1351.23	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23012439 17576681 9536098
2	MIR103A1	MicroRNA 103a-1	RNA Gene	8.57	DISEASES inferred ¹⁵ ¹⁵
3	MIR142	MicroRNA 142	RNA Gene	7.44	DISEASES inferred ¹⁵ ¹⁵
4	TMEM132E	Transmembrane Protein 132E	Protein Coding	7.22	DISEASES inferred ¹⁵
5	TMEM132D	Transmembrane Protein 132D	Protein Coding	6.5	DISEASES inferred ¹⁵
6	TMEM107	Transmembrane Protein 107	Protein Coding	6.48	DISEASES inferred ¹⁵
7	TMEM237	Transmembrane Protein 237	Protein Coding	6.42	DISEASES inferred ¹⁵
8	NPHP4	Nephrocystin 4	Protein Coding	6.38	DISEASES inferred ¹⁵
9	TMEM17	Transmembrane Protein 17	Protein Coding	6.16	DISEASES inferred ¹⁵
10	STX19	Syntaxin 19	Protein Coding	5.95	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 20

ClinVar genetic disease variations for Joubert Syndrome 20:

⁶ (show top 50) (show all 70)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TMEM231	NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)	SNV	Pathogenic	39822	rs200799769	GRCh37: 16:75576539-75576539 GRCh38: 16:75542641-75542641
2	TMEM231	NC_000016.10:g.(?_75539974)_(75545515_?)del	Deletion	Pathogenic	473319		GRCh37: 16:75573872-75579413 GRCh38: 16:75539974-75545515
3	TMEM231	NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)	SNV	Pathogenic	39822	rs200799769	GRCh37: 16:75576539-75576539 GRCh38: 16:75542641-75542641
4	TMEM231	NM_001077418.3(TMEM231):c.664+4A>G	SNV	Pathogenic	437009	rs760426025	GRCh37: 16:75576496-75576496 GRCh38: 16:75542598-75542598
5	TMEM231	NM_001077418.3(TMEM231):c.139+47C>A	SNV	Pathogenic	565503	rs200063331	GRCh37: 16:75589922-75589922 GRCh38: 16:75556024-75556024
6	TMEM231	NM_001077418.3(TMEM231):c.505del (p.Gln169fs)	Deletion	Pathogenic	998194		GRCh37: 16:75579327-75579327 GRCh38: 16:75545429-75545429
7	TMEM231	NM_001077418.3(TMEM231):c.139+47C>A	SNV	Pathogenic	565503	rs200063331	GRCh37: 16:75589922-75589922 GRCh38: 16:75556024-75556024
8	TMEM231	NM_001077416.2(TMEM231):c.1A>C (p.Met1Leu)	SNV	Pathogenic	1028503		GRCh37: 16:75590169-75590169 GRCh38: 16:75556271-75556271
9	TMEM231	NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)	SNV	Pathogenic	39821	rs397514609	GRCh37: 16:75590096-75590096 GRCh38: 16:75556198-75556198
10	TMEM231	NM_001077418.3(TMEM231):c.438+5G>C	SNV	Likely pathogenic	971624		GRCh37: 16:75579719-75579719 GRCh38: 16:75545821-75545821
11	TMEM231	NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)	SNV	Likely pathogenic	1028502		GRCh37: 16:75589763-75589763 GRCh38: 16:75555865-75555865
12	TMEM231	NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)	SNV	Conflicting interpretations of pathogenicity	570416	rs199813223	GRCh37: 16:75575308-75575308 GRCh38: 16:75541410-75541410
13	TMEM231	NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)	SNV	Uncertain significance	286672	rs199605221	GRCh37: 16:75574052-75574052 GRCh38: 16:75540154-75540154
14	TMEM231	NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)	SNV	Uncertain significance	646847	rs1597051521	GRCh37: 16:75590097-75590097 GRCh38: 16:75556199-75556199
15	TMEM231	NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)	SNV	Uncertain significance	648618	rs774528098	GRCh37: 16:75589835-75589835 GRCh38: 16:75555937-75555937
16	TMEM231	NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)	SNV	Uncertain significance	649504	rs1295551040	GRCh37: 16:75575264-75575264 GRCh38: 16:75541366-75541366
17	TMEM231	NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly)	SNV	Uncertain significance	657708	rs1176007249	GRCh37: 16:75590160-75590160 GRCh38: 16:75556262-75556262
18	TMEM231	NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)	SNV	Uncertain significance	665253	rs1597041448	GRCh37: 16:75579338-75579338 GRCh38: 16:75545440-75545440
19	TMEM231	NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)	SNV	Uncertain significance	803273	rs541195377	GRCh37: 16:75589767-75589767 GRCh38: 16:75555869-75555869
20	TMEM231	NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)	SNV	Uncertain significance	285611	rs746025189	GRCh37: 16:75575291-75575291 GRCh38: 16:75541393-75541393
21	TMEM231		Duplication	Uncertain significance	473318		GRCh37: GRCh38: 16:75539974-75542703
22	TMEM231	NC_000016.9:g.(?_75573872)_(75579413_?)dup	Duplication	Uncertain significance	473320		GRCh37: 16:75573872-75579413 GRCh38: 16:75539974-75545515
23	TMEM231	NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)	SNV	Uncertain significance	936566		GRCh37: 16:75579782-75579782 GRCh38: 16:75545884-75545884
24	TMEM231	NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)	SNV	Uncertain significance	939661		GRCh37: 16:75574000-75574000 GRCh38: 16:75540102-75540102
25	TMEM231	NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)	SNV	Uncertain significance	939662		GRCh37: 16:75574066-75574066 GRCh38: 16:75540168-75540168
26	TMEM231	NM_001077418.3(TMEM231):c.140-33C>G	SNV	Uncertain significance	1028504		GRCh37: 16:75589904-75589904 GRCh38: 16:75556006-75556006
27	TMEM231	NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)	SNV	Uncertain significance	871667		GRCh37: 16:75579789-75579789 GRCh38: 16:75545891-75545891
28	TMEM231	NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)	SNV	Uncertain significance	1033247		GRCh37: 16:75579785-75579785 GRCh38: 16:75545887-75545887
29	TMEM231	NM_001077418.3(TMEM231):c.582+6A>G	SNV	Uncertain significance	379405	rs376300743	GRCh37: 16:75579244-75579244 GRCh38: 16:75545346-75545346
30	TMEM231	NM_001077418.3(TMEM231):c.770+3A>G	SNV	Uncertain significance	1045110		GRCh37: 16:75575245-75575245 GRCh38: 16:75541347-75541347
31	TMEM231	NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)	SNV	Uncertain significance	1046518		GRCh37: 16:75576511-75576511 GRCh38: 16:75542613-75542613
32	TMEM231	NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)	SNV	Uncertain significance	1052480		GRCh37: 16:75579840-75579840 GRCh38: 16:75545942-75545942
33	TMEM231	NM_001077418.3(TMEM231):c.-40C>G	SNV	Uncertain significance	419048	rs114889548	GRCh37: 16:75590147-75590147 GRCh38: 16:75556249-75556249
34	TMEM231	NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)	SNV	Uncertain significance	379404	rs199776253	GRCh37: 16:75579250-75579250 GRCh38: 16:75545352-75545352
35	TMEM231	NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)	SNV	Uncertain significance	1059988		GRCh37: 16:75576543-75576543 GRCh38: 16:75542645-75542645
36	TMEM231	NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)	SNV	Uncertain significance	1062223		GRCh37: 16:75574057-75574057 GRCh38: 16:75540159-75540159
37	TMEM231	NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)	SNV	Uncertain significance	1062942		GRCh37: 16:75589702-75589702 GRCh38: 16:75555804-75555804
38	TMEM231	NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)	SNV	Uncertain significance	1001022		GRCh37: 16:75579378-75579378 GRCh38: 16:75545480-75545480
39	TMEM231	NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)	SNV	Uncertain significance	1005050		GRCh37: 16:75589764-75589764 GRCh38: 16:75555866-75555866
40	TMEM231	NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)	SNV	Uncertain significance	1014982		GRCh37: 16:75576501-75576501 GRCh38: 16:75542603-75542603
41	TMEM231	NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys)	SNV	Uncertain significance	1025278		GRCh37: 16:75590151-75590151 GRCh38: 16:75556253-75556253
42	TMEM231	NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)	SNV	Uncertain significance	1026754		GRCh37: 16:75590063-75590063 GRCh38: 16:75556165-75556165
43	TMEM231	NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)	SNV	Uncertain significance	857940		GRCh37: 16:75579782-75579782 GRCh38: 16:75545884-75545884
44	TMEM231	NM_001077418.3(TMEM231):c.140-30A>C	SNV	Uncertain significance	863877		GRCh37: 16:75589901-75589901 GRCh38: 16:75556003-75556003
45	TMEM231	NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)	SNV	Likely benign	287699	rs377440297	GRCh37: 16:75589979-75589979 GRCh38: 16:75556081-75556081
46	TMEM231	NM_001077418.3(TMEM231):c.-15C>T	SNV	Likely benign	676718	rs138060715	GRCh37: 16:75590122-75590122 GRCh38: 16:75556224-75556224
47	TMEM231	NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)	Inversion	Likely benign	473321		GRCh37: 16:75573915-75573916 GRCh38: 16:75540017-75540018
48	TMEM231	NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)	SNV	Likely benign	516234	rs115739052	GRCh37: 16:75590158-75590158 GRCh38: 16:75556260-75556260
49	TMEM231	NM_001077418.3(TMEM231):c.583-10C>T	SNV	Likely benign	540544	rs774265542	GRCh37: 16:75576591-75576591 GRCh38: 16:75542693-75542693
50	TMEM231	NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)	SNV	Likely benign	540545	rs201036290	GRCh37: 16:75579362-75579362 GRCh38: 16:75545464-75545464

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 20:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	TMEM231	p.Asp209Asn	VAR_069044	rs200799769

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Expression for Joubert Syndrome 20

Search GEO for disease gene expression data for Joubert Syndrome 20.

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Pathways for Joubert Syndrome 20

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GO Terms for Joubert Syndrome 20

Cellular components related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.65	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
2	cilium	GO:0005929	9.55	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4
3	ciliary membrane	GO:0060170	9.37	TMEM231 TMEM17
4	photoreceptor connecting cilium	GO:0032391	9.32	TMEM237 NPHP4
5	MKS complex	GO:0036038	9.13	TMEM231 TMEM17 TMEM107
6	ciliary transition zone	GO:0035869	9.02	TMEM237 TMEM231 TMEM17 TMEM107 NPHP4

Biological processes related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	smoothened signaling pathway	GO:0007224	9.37	TMEM231 TMEM17
2	embryonic digit morphogenesis	GO:0042733	9.32	TMEM231 TMEM107
3	non-motile cilium assembly	GO:1905515	9.26	TMEM17 TMEM107
4	cilium assembly	GO:0060271	9.26	TMEM237 TMEM231 TMEM17 TMEM107
5	protein localization to ciliary transition zone	GO:1904491	9.16	TMEM107 NPHP4
6	cell projection organization	GO:0030030	8.92	TMEM237 TMEM231 TMEM17 TMEM107

Sources

Sources for Joubert Syndrome 20

¹ BioSystems

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¹⁰ dbSNP

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²⁴ GeneHancer via GeneCards

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⁴¹ MedGen

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Joubert Syndrome 20 (JBTS20)

Aliases & Classifications for Joubert Syndrome 20

MalaCards integrated aliases for Joubert Syndrome 20:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 20

Related Diseases for Joubert Syndrome 20

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 20 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Joubert Syndrome 20

Human phenotypes related to Joubert Syndrome 20:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Joubert Syndrome 20

Genetic Tests for Joubert Syndrome 20

Genetic tests related to Joubert Syndrome 20:

Anatomical Context for Joubert Syndrome 20

MalaCards organs/tissues related to Joubert Syndrome 20:

Publications for Joubert Syndrome 20

Articles related to Joubert Syndrome 20:

Genes for Joubert Syndrome 20

Genes related to Joubert Syndrome 20 (1 elite genes):

Variations for Joubert Syndrome 20

ClinVar genetic disease variations for Joubert Syndrome 20:

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 20:

Expression for Joubert Syndrome 20

Pathways for Joubert Syndrome 20

GO Terms for Joubert Syndrome 20

Cellular components related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 20 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 20