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GENE - TERM ANNOTATION REPORT

RGD ID: 1305585
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col6a2
Name: collagen type VI alpha 2 chain
Acc ID: DOID:0050558
Term: Ullrich congenital muscular dystrophy
Definition: A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy "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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