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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Col1a1 and osteoporosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Guzeloglu-Kayisli O, etal., Pediatr Int. 2008 Aug;50(4):474-6. doi: 10.1111/j.1442-200X.2008.02609.x.
  • The annotation has been inferred from sequence orthology with COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Guzeloglu-Kayisli O, etal., Pediatr Int. 2008 Aug;50(4):474-6. doi: 10.1111/j.1442-200X.2008.02609.x.
  • 145 RGD objects have been annotated to osteoporosis  (DOID:11476)
  • 100 papers in RGD have been used to annotate Col1a1
  • Curation Notes: associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human)


    • An association has been curated linking Col1a1 and osteoporosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 145 RGD objects have been annotated to osteoporosis  (DOID:11476)
  • 100 papers in RGD have been used to annotate Col1a1


    • An association has been curated linking Col1a1 and osteoporosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tural S, etal., Gene. 2013 Feb 15;515(1):167-72. doi: 10.1016/j.gene.2012.10.041. Epub 2012 Nov 5.
  • The annotation has been inferred from sequence orthology with COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 additional annotations were made from Tural S, etal., Gene. 2013 Feb 15;515(1):167-72. doi: 10.1016/j.gene.2012.10.041. Epub 2012 Nov 5.
  • 145 RGD objects have been annotated to osteoporosis  (DOID:11476)
  • 100 papers in RGD have been used to annotate Col1a1
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP, haplotype:intron:g.2046G>T (human)


    • An association has been curated linking Col1a1 and osteoporosis in Mus musculus.        

  • 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 145 RGD objects have been annotated to osteoporosis  (DOID:11476)
  • 100 papers in RGD have been used to annotate Col1a1
  • Curation Notes: ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL
  • Original References(s): PMID:10931857 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:2037280 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22855962 PMID:24390061 PMID:25086671 PMID:2542316 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26467025 PMID:27132807 PMID:27509835 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28810924 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882


    • An association has been curated linking Col1a1 and osteoporosis in Mus musculus.        

  • 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 145 RGD objects have been annotated to osteoporosis  (DOID:11476)
  • 100 papers in RGD have been used to annotate Col1a1
  • Curation Notes: ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
  • Original References(s): PMID:10739762 PMID:10931857 PMID:11113887 PMID:11317364 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:17078022 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:2037280 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24390061 PMID:24767406 PMID:25086671 PMID:2542316 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:26627451 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27519266 PMID:27748872 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29595812 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098


    • An association has been curated linking Col1a1 and osteoporosis in Mus musculus.        

  • 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 145 RGD objects have been annotated to osteoporosis  (DOID:11476)
  • 100 papers in RGD have been used to annotate Col1a1
  • Curation Notes: ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
  • Original References(s): PMID:10739762 PMID:10931857 PMID:11113887 PMID:11317364 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:2037280 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24390061 PMID:24767406 PMID:25086671 PMID:2542316 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:26627451 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29595812 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098


    • An association has been curated linking Col1a1 and osteoporosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A1 (Homo sapiens) [(EXP) inferred from experiment]
  • 145 RGD objects have been annotated to osteoporosis  (DOID:11476)
  • 100 papers in RGD have been used to annotate Col1a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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