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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:0110339
Term: osteogenesis imperfecta type 3
Definition: An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in 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/2794057, https://www.ncbi.nlm.nih.gov/pubmed/9099837
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  
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:259420

 
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:259420

PMID:10807697
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:259420

PMID:19208385
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:259420

PMID:19208385, PMID:7749416, PMID:8728690
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:259420

PMID:2064612, PMID:7881420, PMID:9143923
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:259420

PMID:6092353
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:259420

PMID:8444468
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type III

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 III

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

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

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

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

PMID:25326635, PMID:25741868
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type III

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

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

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

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

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

PMID:2824475
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type III

PMID:3023615, PMID:3995789, PMID:8081394
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.