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GENE - TERM ANNOTATION REPORT

RGD ID: 1307551
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Stra6
Name: signaling receptor and transporter of retinol STRA6
Acc ID: DOID:0111807
Term: syndromic microphthalmia 9
Definition: A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17236193 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17273977 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26373900 "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)
Stra6 ISOSTRA6 (Homo sapiens)155631273RGDDNA:mutations:multiple (human) 
Stra6 ISOSTRA6 (Homo sapiens)7240710OMIM  
Stra6 ISOSTRA6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17503335 PMID:18316031
Stra6 ISOSTRA6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defectPMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:19213032 PMID:19309693 PMID:19839040 PMID:22283518 PMID:22686418 PMID:25044680 PMID:25741868 PMID:26373900 PMID:28492532 PMID:30639323
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