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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:12347
Term: osteogenesis imperfecta
Definition: COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
Definition Source(s): MESH:D010013, http://emedicine.medscape.com/article/947588-overview, http://en.wikipedia.org/wiki/Osteogenesis_imperfecta, http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, http://orthoinfo.aaos.org/topic.cfm?topic=a00051, http://osteogenesisimperfecta.org/, http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm, http://www.oif.org/site/PageServer
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:730984734804RGDDNA:mutations, haplotype (human)

 
 ISORGD:7309841581197RGDDNA:snp:cds:p.G328S (human)

 
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

 
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

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: Lobstein's Disease

PMID:11288717, PMID:15077201, PMID:16816023, PMID:27510842, PMID:28492532, PMID:2993307, PMID:3372533, PMID:6092353
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:11317364, PMID:16705691, PMID:17078022, PMID:21667357, PMID:25944380
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

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: Lobstein's Disease

PMID:16786509, PMID:25741868, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:16879195, PMID:17078022, PMID:19344236, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:17078022, PMID:19344236, PMID:25741868, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:17078022, PMID:22589248, PMID:25741868, PMID:28492532, PMID:7860070, PMID:9272740
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:21520333, PMID:25741868, PMID:25944380, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:2454224, PMID:28492532, PMID:3680255, PMID:6773953, PMID:8081389
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:25326637, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:25741868, PMID:26604951, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:25741868, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

PMID:25944380, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Lobstein's Disease

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

PMID:11317364
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta

PMID:15077201, PMID:17078022, PMID:2010058, PMID:21344539, PMID:21801164, PMID:21912751, PMID:24140640, PMID:24668929, PMID:25944380, PMID:2824475, PMID:28625337, PMID:28916840, PMID:458828, PMID:8071956, PMID:9295084, PMID:9557891
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta

PMID:17078022, PMID:18311573, PMID:19344236, PMID:21667357, PMID:26177859, PMID:26467025, PMID:28378289, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta

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

PMID:24767406, PMID:26467025, PMID:27146342, PMID:27509835, PMID:27519266, PMID:28396251, PMID:8829649
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta

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

PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, mild

PMID:3403536
 ISORGD:73098411667066RGDDNA:mutation:exon:c.87T > C(human)

 
 ISORGD:7309857248772RGDDNA:deletion:exon:3983del (mouse)

 
 ISSRGD:73098513592920MouseDO  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.