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GENE - TERM ANNOTATION REPORT

RGD ID: 621351
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col1a2
Name: collagen type I alpha 2 chain
Acc ID: DOID:0110334
Term: osteogenesis imperfecta type 1
Definition: An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/2873381
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

 
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:11288717, PMID:15077201, PMID:15241796, PMID:16816023, PMID:25944380, PMID:26177859, PMID:27510842, PMID:28492532, PMID:29595812, PMID:2993307, PMID:3372533, PMID:6092353
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:11288717, PMID:15077201, PMID:16816023, PMID:27510842, PMID:28492532, PMID:2993307, PMID:3372533, PMID:6092353
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:11317364, PMID:16705691, PMID:17078022, PMID:21667357, PMID:25944380
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:16705691, PMID:17078022, PMID:19344236, PMID:22589248, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:27519266, PMID:28492532, PMID:7695699, PMID:8094076, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:16786509, PMID:25741868, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:16879195, PMID:17078022, PMID:19344236, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:16879195, PMID:17078022, PMID:22753364, PMID:25944380, PMID:26177859, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:17078022, PMID:19344236, PMID:21667357, PMID:22206639, PMID:24501682, PMID:25944380, PMID:26138843, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:7695699, PMID:8218237, PMID:8829649, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:17078022, PMID:19344236, PMID:25741868, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:17078022, PMID:19344236, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:17078022, PMID:22589248, PMID:25741868, PMID:28492532, PMID:7860070, PMID:9272740
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:18996919, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:21520333, PMID:25741868, PMID:25944380, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:2454224, PMID:28492532, PMID:3680255, PMID:6773953, PMID:8081389
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:25326637, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:25741868
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:25741868, PMID:26604951, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:25741868, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:25944380
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:25944380, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:26467025, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type I

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.