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GENE - TERM ANNOTATION REPORT

RGD ID: 11940872
Species: Pan paniscus
RGD Object: Gene
Symbol: COL1A1
Name: collagen type I alpha 1 chain
Acc ID: DOID:0080728
Term: Ehlers-Danlos syndrome arthrochalasia type 2
Definition: An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/18409203/ "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)
COL1A1 ISOCOL1A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2PMID:18311573 PMID:21667357 PMID:22206639 PMID:25741868 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 PMID:7942841 PMID:9295084 PMID:9443882
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