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GENE - TERM ANNOTATION REPORT

RGD ID: 1558014
Species: Mus musculus
RGD Object: Gene
Symbol: Sox2
Name: SRY (sex determining region Y)-box 2
Acc ID: DOID:0111801
Term: syndromic microphthalmia 3
Definition: A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12612584 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20803647 "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)
Sox2 ISOSOX2 (Homo sapiens)7240710OMIM  
Sox2 ISOSOX2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Sox2 ISOSOX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndromePMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 PMID:16145681 PMID:16283891 PMID:16470798 PMID:16543359 PMID:16712695 PMID:16892407 PMID:16932809 PMID:17219395 PMID:17522144 PMID:18285410 PMID:18385377 PMID:18385794 PMID:18831064 PMID:19254784 PMID:19921648 PMID:20803647 PMID:21326281 PMID:22171155 PMID:22421044 PMID:23701296 PMID:24498598 PMID:24804704 PMID:25542770 PMID:25741868 PMID:26250054 PMID:26938784 PMID:27206652 PMID:27427475 PMID:28121235 PMID:28492532 PMID:30450772 PMID:32870266 PMID:33914258 PMID:34367232 PMID:35885948
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