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GENE - TERM ANNOTATION REPORT

RGD ID: 1557633
Species: Mus musculus
RGD Object: Gene
Symbol: Arl13b
Name: ADP-ribosylation factor-like 13B
Acc ID: DOID:0111003
Term: Joubert syndrome 8
Definition: A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18674751 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Arl13b ISOARL13B (Homo sapiens)11553937RGDDNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human) 
Arl13b ISOARL13B (Homo sapiens)7240710OMIM  
Arl13b ISOARL13B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Arl13b ISOARL13B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 8PMID:16199547 PMID:17576681 PMID:18674751 PMID:23150559 PMID:23153492 PMID:24033266 PMID:25138100 PMID:25741868 PMID:26092869 PMID:26132555 PMID:27153923 PMID:28492532 PMID:28787594 PMID:29255182 PMID:34447983 PMID:9536098
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