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GENE - TERM ANNOTATION REPORT

RGD ID: 12648168
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Satb2
Name: SATB homeobox 2
Acc ID: DOID:0060428
Term: SATB2-associated syndrome
Definition: A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK458647/ "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)
Satb2 ISOSATB2 (Homo sapiens)7240710OMIM  
Satb2 ISOSATB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-associated syndrome | ClinVar Annotator: match by term: SATB2-related disorderPMID:16199547 PMID:17377962 PMID:17576681 PMID:21343628 PMID:23788249 PMID:23925499 PMID:24301056 PMID:24884844 PMID:25118029 PMID:25251319 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25533962 PMID:25640679 PMID:25741868 PMID:25885067 PMID:26596517 PMID:26944241 PMID:27774744 PMID:28135719 PMID:28139846 PMID:28151491 PMID:28211976 PMID:28492532 PMID:28708303 PMID:28787087 PMID:29023086 PMID:29436146 PMID:30575289 PMID:30848049 PMID:31021519 PMID:31279624 PMID:31302918 PMID:31440721 PMID:31849593 PMID:32581362 PMID:33004838 PMID:33274544 PMID:33624935 PMID:9536098
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