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GENE - TERM ANNOTATION REPORT

15 Annotations Found.

An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chipman SD, etal., Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1701-5.
  • The annotation has been inferred from sequence orthology with Col1a2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Chipman SD, etal., Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1701-5.
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:deletion:exon:3983del (mouse)


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Superti-Furga A, etal., J Med Genet 1989 Jun;26(6):358-62.
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Superti-Furga A, etal., J Med Genet 1989 Jun;26(6):358-62.
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:mutations, haplotype (human)


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lee KS, etal., Hum Mutat. 2006 Jun;27(6):599.
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lee KS, etal., Hum Mutat. 2006 Jun;27(6):599.
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:snp:cds:p.G328S (human)


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yang Z, etal., Genet Mol Res. 2011 Feb 8;10(1):177-85. doi: 10.4238/vol10-1gmr984.
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Yang Z, etal., Genet Mol Res. 2011 Feb 8;10(1):177-85. doi: 10.4238/vol10-1gmr984.
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:mutation:exon:c.87T > C(human)


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:20301472 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:24863959 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:2824475 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29595812 PMID:29656858 PMID:2985635 PMID:29947050 PMID:30152103 PMID:3023615 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31737030 PMID:31794058 PMID:32659730 PMID:32667677 PMID:32920552 PMID:3403536 PMID:34422331 PMID:36896471 PMID:3995789 PMID:458828 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Col1a2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16705691 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26307460 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:2824475 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28810924 PMID:28916840 PMID:29595812 PMID:29656858 PMID:2985635 PMID:2993307 PMID:30152103 PMID:30886339 PMID:31039433 PMID:31794058 PMID:32659730 PMID:32667677 PMID:3372533 PMID:3403536 PMID:458828 PMID:6092353 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:21344539 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26307460 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:27056980 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:2824475 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28810924 PMID:28916840 PMID:29595812 PMID:29656858 PMID:2985635 PMID:30152103 PMID:30886339 PMID:31039433 PMID:31141158 PMID:31794058 PMID:32659730 PMID:32667677 PMID:3403536 PMID:458828 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:20301472 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:2824475 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29595812 PMID:29656858 PMID:2985635 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31737030 PMID:31794058 PMID:32659730 PMID:32667677 PMID:32920552 PMID:3403536 PMID:34422331 PMID:458828 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:20301472 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:24863959 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25741905 PMID:25742658 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:2824475 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29225276 PMID:29595812 PMID:29656858 PMID:2985635 PMID:2993307 PMID:29947050 PMID:30152103 PMID:3023615 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31737030 PMID:31794058 PMID:32659730 PMID:32667677 PMID:32920552 PMID:33110269 PMID:3372533 PMID:33939306 PMID:3403536 PMID:34098919 PMID:34422331 PMID:36896471 PMID:37079061 PMID:37270749 PMID:3995789 PMID:458828 PMID:4795106 PMID:6092353 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:2824475 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29595812 PMID:29656858 PMID:2985635 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31794058 PMID:32659730 PMID:32667677 PMID:3403536 PMID:458828 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:21344539 PMID:21520333 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:2824475 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29595812 PMID:29656858 PMID:2985635 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31794058 PMID:32659730 PMID:32667677 PMID:3403536 PMID:458828 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:20301472 PMID:21344539 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:2824475 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29595812 PMID:29656858 PMID:2985635 PMID:29947050 PMID:30152103 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31737030 PMID:31794058 PMID:32659730 PMID:32667677 PMID:32920552 PMID:3403536 PMID:34422331 PMID:458828 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:2010058 PMID:20301472 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21801164 PMID:21884818 PMID:21912751 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24140640 PMID:24501682 PMID:24668929 PMID:24767406 PMID:24863959 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25742658 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:27011056 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:2824475 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28625337 PMID:28725987 PMID:28810924 PMID:28916840 PMID:29150909 PMID:29225276 PMID:29595812 PMID:29656858 PMID:2985635 PMID:2993307 PMID:29947050 PMID:30152103 PMID:3023615 PMID:30283887 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31566912 PMID:31737030 PMID:31794058 PMID:32659730 PMID:32667677 PMID:32920552 PMID:33110269 PMID:3372533 PMID:33939306 PMID:3403536 PMID:34098919 PMID:34422331 PMID:36896471 PMID:37079061 PMID:37270749 PMID:3995789 PMID:458828 PMID:6092353 PMID:7695699 PMID:7860070 PMID:8071956 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9295084 PMID:9399846 PMID:9536098 PMID:9557891 PMID:9594376 PMID:9923651


    • An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:10027910 PMID:10976985 PMID:11288717 PMID:11317364 PMID:11836364 PMID:15077201 PMID:15172002 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:17078022 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18311573 PMID:18996919 PMID:19317096 PMID:19344236 PMID:1978725 PMID:1990009 PMID:20301472 PMID:21344539 PMID:21488275 PMID:21488294 PMID:21520333 PMID:21530898 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:23227268 PMID:23692737 PMID:23869235 PMID:23934635 PMID:24033266 PMID:24501682 PMID:24767406 PMID:24863959 PMID:25146735 PMID:25326637 PMID:25450603 PMID:25633413 PMID:25741868 PMID:25742658 PMID:25835785 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26471105 PMID:26604951 PMID:26627451 PMID:27056980 PMID:27090748 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28017821 PMID:28346524 PMID:28378289 PMID:28396251 PMID:28492532 PMID:28498836 PMID:28518168 PMID:28725987 PMID:28810924 PMID:29150909 PMID:29225276 PMID:29595812 PMID:29656858 PMID:2985635 PMID:2993307 PMID:29947050 PMID:30152103 PMID:3023615 PMID:30715774 PMID:30821104 PMID:30886339 PMID:30984112 PMID:31039433 PMID:31141158 PMID:31414283 PMID:31447884 PMID:31566912 PMID:31737030 PMID:31794058 PMID:32461654 PMID:32659730 PMID:32667677 PMID:32920552 PMID:33070251 PMID:33110269 PMID:3372533 PMID:33939306 PMID:3403536 PMID:34098919 PMID:34317605 PMID:34422331 PMID:35052464 PMID:35154279 PMID:35723357 PMID:36896471 PMID:37079061 PMID:37270749 PMID:37810882 PMID:38346409 PMID:3995789 PMID:4795106 PMID:6092353 PMID:7695699 PMID:7860070 PMID:7959683 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8456808 PMID:8829649 PMID:8829655 PMID:9016532 PMID:9240878 PMID:9272740 PMID:9399846 PMID:9536098 PMID:9594376 PMID:9923651


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