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GENE - TERM ANNOTATION REPORT

RGD ID: 12275963
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: COL1A2
Name: collagen type I alpha 2 chain
Acc ID: DOID:0110340
Term: osteogenesis imperfecta type 4
Definition: An osteogenesis imperfecta that is characterized by bone fragility and normal 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): PMID:2745420, PMID:2897363, https://www.ncbi.nlm.nih.gov/pubmed/2745420, https://www.ncbi.nlm.nih.gov/pubmed/2897363
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:7309847240710OMIM  
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type 4

PMID:11836364
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type 4

PMID:2064612, PMID:7881420, PMID:9143923
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type 4

PMID:2897363
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type 4

PMID:8456807
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type 4

PMID:8786065
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:11288717, PMID:15077201, PMID:15241796, PMID:16816023, PMID:25944380, PMID:26177859, PMID:27510842, PMID:28492532, PMID:29595812, PMID:2993307, PMID:3372533, PMID:6092353
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

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
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:16786509, PMID:25741868, PMID:28492532
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:17078022, PMID:19344236, PMID:25741868, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:17078022, PMID:22589248, PMID:25741868, PMID:28492532, PMID:7860070, PMID:9272740
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:21520333, PMID:25741868, PMID:25944380, PMID:28492532
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:25326637, PMID:28492532
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:25741868
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:25741868, PMID:26604951, PMID:28492532
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:25741868, PMID:28492532
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:25944380
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:25944380, PMID:28492532
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:8829655
 ISSRGD:88534619068941ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV

PMID:9268111
 ISSRGD:88534619068941OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.