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GENE - TERM ANNOTATION REPORT

64 Annotations Found.

An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600509 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:8100209


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600488 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2220807 PMID:2309707 PMID:2339700 PMID:2913053


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8566177 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2298750


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600482 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2794057


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600516 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone
  • Original References(s): PMID:2121988 PMID:2500431 PMID:8950680


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600476 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:3108247


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600483 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:3198624 PMID:3667599


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600496 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:17078022 PMID:19344236 PMID:2037280 PMID:22589248 PMID:25086671 PMID:25741868 PMID:25944380 PMID:26177859 PMID:28492532 PMID:7695699 PMID:8218237 PMID:8669434 PMID:9016532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600497 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2037280 PMID:2894346 PMID:8100856 PMID:8669434


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600518 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:7881420 PMID:9143923


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600510 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:3722184 PMID:7816518


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600498 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:1874719


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600481 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:3403550


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600506 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:1511982 PMID:1864604


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600490 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:3016737


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600495 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2035536


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8566175 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2121988 PMID:2500431 PMID:6702894


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8602808 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2
  • Original References(s): PMID:11113887 PMID:15024745 PMID:15241796 PMID:17392686 PMID:24767406 PMID:25741868 PMID:26467025 PMID:27044453 PMID:27146342 PMID:28492532 PMID:29499418 PMID:30692697 PMID:30715774 PMID:31304589 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600486 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2339700


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600487 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:2309707


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8566178 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:8097422


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12911258 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:15024745 PMID:15741671 PMID:25741868 PMID:25944380 PMID:26467025 PMID:27132807 PMID:27748872 PMID:28492532 PMID:7942841 PMID:8613526 PMID:8808594 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600508 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:25741868 PMID:8364588


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:40888501 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:20301472 PMID:21239989 PMID:25741868 PMID:31349857


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11577390 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:18272325 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13478591 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:25741868 PMID:26467025


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12911253 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:10931857 PMID:15931785 PMID:16199547 PMID:17078022 PMID:2542316 PMID:25741868 PMID:25944380 PMID:26467025 PMID:28492532 PMID:28810924 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:7942841 PMID:8408653 PMID:9067755 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11581173 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:21667357 PMID:25741868 PMID:25944380 PMID:28378289 PMID:28492532 PMID:7942841 PMID:8808594 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11350859 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:11317364 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13480209 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32166892


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600480 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:17078022 PMID:18996919 PMID:19344236 PMID:25741868 PMID:26264579 PMID:26467025 PMID:27509835 PMID:28116328 PMID:28492532 PMID:29432813 PMID:30266093 PMID:3403550 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9295084


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13466437 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:18996919 PMID:20981092 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29595812


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13470688 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:26467025


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12911246 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:12590186 PMID:15024745 PMID:18311573 PMID:21667357 PMID:22570641 PMID:25741868 PMID:25944380 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600522 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:15864348 PMID:17309652 PMID:18553566 PMID:18704262 PMID:21249479 PMID:21567126 PMID:22855962 PMID:24390061 PMID:25741868 PMID:28492532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13469871 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:15241796 PMID:17078022 PMID:18412368 PMID:19344236 PMID:25741868 PMID:26467025 PMID:27509835 PMID:27519266 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13446349 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:17576681 PMID:25741868 PMID:25963598 PMID:28492532 PMID:9536098


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12911256 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:12362985 PMID:17078022 PMID:19344236 PMID:21667357 PMID:22206639 PMID:23692737 PMID:25741868 PMID:25944380 PMID:26467025 PMID:26627451 PMID:27509835 PMID:27748872 PMID:28492532 PMID:31447884 PMID:7695699 PMID:8218237 PMID:8613526 PMID:9016532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13477095 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2
  • Original References(s): PMID:19491628 PMID:25741868 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12912006 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta type 2A
  • Original References(s): PMID:25741868 PMID:25944380


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151793597 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2
  • Original References(s): PMID:25741868 PMID:26627451 PMID:28492532 PMID:28725987 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10048786 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2
  • Original References(s): PMID:18272325 PMID:21594610 PMID:25741868 PMID:26467025 PMID:28492532 PMID:8456808


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600521 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9686774 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:17211858 PMID:23265383 PMID:25741868 PMID:28492532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:150507894 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:25741868 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127270119 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30614853 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • 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 Col1a1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: OMIM:166210


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:153345844 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:38346409


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens) & RGD:127244212|RGD:14727027|RGD:14727030|RGD:14727036|RGD:14727039|RGD:14727040|RGD:14727585|RGD:150437651|RGD:151349512|RGD:151351468|RGD:152044283|RGD:153347871|RGD:155644053|RGD:329395553|RGD:329847842|RGD:401878431|RGD:405257257|RGD:41405104 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:25741868


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens) & RGD:12893480|RGD:150338588|RGD:150338637|RGD:151661273|RGD:153301373|RGD:153301374|RGD:153301375|RGD:21403968|RGD:41406216|RGD:8566174 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12911251 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:12590186 PMID:15024692 PMID:16199547 PMID:19358256 PMID:22753364 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26467025 PMID:27510842 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13522104 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:11317364 PMID:25741868 PMID:26863094 PMID:28492532 PMID:31239369 PMID:32860008 PMID:33939306 PMID:7942841 PMID:9295084 PMID:9443882


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127266226 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:17078022 PMID:19344236 PMID:25741868 PMID:25944380 PMID:26467025 PMID:27509835 PMID:28492532 PMID:28528406 PMID:7695699 PMID:8218237 PMID:9016532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:21406301 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:11317364 PMID:17078022 PMID:19344236 PMID:21239989 PMID:25741868 PMID:28492532 PMID:30266093 PMID:7695699 PMID:8218237 PMID:9016532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600473|RGD:8600478|RGD:8600479|RGD:8600489|RGD:8600491 (Homo sapiens) & RGD:8600473|RGD:8600478|RGD:8600479|RGD:8600489|RGD:8600491 (Homo sapiens) & RGD:8600473|RGD:8600478|RGD:8600479|RGD:8600489|RGD:8600491 (Homo sapiens) & RGD:8600473|RGD:8600478|RGD:8600479|RGD:8600489|RGD:8600491 (Homo sapiens) & RGD:8600473|RGD:8600478|RGD:8600479|RGD:8600489|RGD:8600491 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:9295084


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens) & RGD:11546895|RGD:11626188|RGD:11627030|RGD:11640593|RGD:12835710|RGD:12845087|RGD:12901600|RGD:13497558|RGD:13525519|RGD:13530698|RGD:13809237|RGD:150495827|RGD:15137563|RGD:21405945 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:126747442|RGD:13807269 (Homo sapiens) & RGD:126747442|RGD:13807269 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600502|RGD:8600503 (Homo sapiens) & RGD:8600502|RGD:8600503 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:1613761


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:21404701|RGD:21404709 (Homo sapiens) & RGD:21404701|RGD:21404709 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:30311386


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11543071|RGD:12847649 (Homo sapiens) & RGD:11543071|RGD:12847649 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:155800799|RGD:401940599 (Homo sapiens) & RGD:155800799|RGD:401940599 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:25741868 PMID:25963598


    • An association has been curated linking COL1A1 and osteogenesis imperfecta type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8604633|RGD:8604634 (Homo sapiens) & RGD:8604633|RGD:8604634 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:21834035


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