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GENE - TERM ANNOTATION REPORT

RGD ID: 1311105
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Arid2
Name: AT-rich interaction domain 2
Acc ID: DOID:0080297
Term: Coffin-Siris syndrome 6
Definition: A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that \nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28124119/ "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)
Arid2 ISOARID2 (Homo sapiens)7240710OMIM  
Arid2 ISOARID2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coffin-Siris syndrome 6PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 PMID:30838730
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