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GENE - TERM ANNOTATION REPORT

RGD ID: 1305667
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Vsx1
Name: visual system homeobox 1
Acc ID: DOID:0110855
Term: posterior polymorphous corneal dystrophy 1
Definition: A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26749309 "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)
Vsx1 ISOVSX1 (Homo sapiens)8657036RGDDNA:missense mutation:cds:p.H244R (human) 
Vsx1 ISOVSX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1PMID:11978762 PMID:15623752 PMID:16303937 PMID:16384943 PMID:18216574 PMID:18626569 PMID:19763142 PMID:21976959 PMID:22171159 PMID:23592923 PMID:24033266 PMID:25741868 PMID:26879370 PMID:28492532 PMID:7795607
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