RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Joubert syndrome 20
Accession: DOID:0110989
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Definition: A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. (DO)
Synonyms: exact_synonym: JBTS20
primary_id: OMIM:614970 ; RDO:9000490
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Adat1
adenosine deaminase, tRNA-specific 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 20
ClinVar
PMID:23012439 PMID:23349226 PMID:28492532
NCBI chr19:39,918,083...39,956,886
Ensembl chr19:39,918,227...39,956,883
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Chst5
carbohydrate sulfotransferase 5
ISO
ClinVar Annotator: match by term: Joubert syndrome 20
ClinVar
PMID:23012439 PMID:27449316 PMID:28492532
NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064
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Gabarapl2
GABA type A receptor associated protein like 2
ISO
ClinVar Annotator: match by term: Joubert syndrome 20
ClinVar
PMID:23012439 PMID:23349226 PMID:28492532
NCBI chr19:39,910,572...39,921,408
Ensembl chr19:39,910,534...39,924,628 Ensembl chr 8:39,910,534...39,924,628
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 20
ClinVar
PMID:23012439 PMID:23349226 PMID:28492532
NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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Tmem170a
transmembrane protein 170A
ISO
ClinVar Annotator: match by term: Joubert syndrome 20
ClinVar
PMID:23012439 PMID:27449316 PMID:28492532
NCBI chr19:39,833,947...39,846,807
Ensembl chr19:39,833,980...39,846,783
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Tmem231
transmembrane protein 231
ISO
ClinVar Annotator: match by term: Joubert syndrome 20
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23349226 PMID:25558065 PMID:25640679 PMID:25741868 PMID:25741905 PMID:25741914 PMID:25869670 PMID:26477546 PMID:26489029 PMID:26982032 PMID:27449316 PMID:27894351 PMID:28289185 PMID:28492532 PMID:31054281 PMID:32055034 PMID:32386258 PMID:34354814 PMID:35456422 More...
NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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