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GENE - TERM ANNOTATION REPORT

RGD ID: 730984
Species: Homo sapiens
RGD Object: Gene
Symbol: COL1A2
Name: collagen type I alpha 2 chain
Acc ID: DOID:0080726
Term: Ehlers-Danlos syndrome classic type 2
Definition: An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22696272/ "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)
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