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GENE - TERM ANNOTATION REPORT

RGD ID: 18932000
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Smarca2
Name: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
Acc ID: DOID:0081442
Term: blepharophimosis-impaired intellectual development syndrome
Definition: A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32694869/ "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)
Smarca2 ISOSMARCA2 (Homo sapiens)7240710OMIM  
Smarca2 ISOSMARCA2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndromePMID:22366787 PMID:23929686 PMID:24090879 PMID:25533962 PMID:25741868 PMID:28191890 PMID:28333917 PMID:28492532 PMID:28628100 PMID:32694869
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