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GENE - TERM ANNOTATION REPORT

RGD ID: 11738716
Species: Pan paniscus
RGD Object: Gene
Symbol: LTBP2
Name: latent transforming growth factor beta binding protein 2
Acc ID: DOID:0111150
Term: autosomal dominant isolated ectopia lentis 1
Definition: An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15054843 "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)
LTBP2 ISOLTBP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominantPMID:23218701 PMID:23401661 PMID:28492532
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