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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:65
Term: connective tissue disease
Definition: A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)
Definition Source(s): http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "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)
COL1A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorderPMID:25741868 PMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue diseasePMID:25741868 PMID:26467025 PMID:27056980 PMID:28492532
COL1A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorderPMID:25741868
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disorderPMID:25741868 PMID:25944380 PMID:26467025 PMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disorderPMID:25741868 PMID:28492532 PMID:31363794
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disorderPMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disorderPMID:15172002 PMID:18028452 PMID:1978725 PMID:25741868 PMID:26264438 PMID:26432670 PMID:27011056 PMID:28017821 PMID:28492532 PMID:2985635 PMID:30283887 PMID:9399846 PMID:9923651
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