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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:8600537 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: Czech dysplasia, metatarsal type
  • Original References(s): PMID:16755660 PMID:17726487 PMID:18553548 PMID:19764028 PMID:25741868 PMID:28492532 PMID:32071555 PMID:8244341


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Tzschach A, etal., Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi: 10.1002/ajmg.a.32389.
  • 2 additional annotations were made from Tzschach A, etal., Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi: 10.1002/ajmg.a.32389.
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: DNA:missense mutation:cds:p.R275C (c.823C>T) (human)


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:11546614 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
  • Original References(s): PMID:18272325 PMID:25741868 PMID:28492532


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:9692840 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
  • Original References(s): PMID:18276201 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:11544438 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
  • Original References(s): PMID:25504618 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:13504395 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
  • Original References(s): PMID:17078022 PMID:17347327 PMID:19344236 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:28492532 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:11546052 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:40904266 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: Czech dysplasia, metatarsal type
  • Original References(s): PMID:17078022 PMID:19344236 PMID:22791362 PMID:25741868 PMID:25967556 PMID:26626311 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking COL2A1 and Czech Dysplasia, Metatarsal Type 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:11615342|RGD:11616643|RGD:126762751|RGD:127311501|RGD:13526986 (Homo sapiens) & RGD:11615342|RGD:11616643|RGD:126762751|RGD:127311501|RGD:13526986 (Homo sapiens) & RGD:11615342|RGD:11616643|RGD:126762751|RGD:127311501|RGD:13526986 (Homo sapiens) & RGD:11615342|RGD:11616643|RGD:126762751|RGD:127311501|RGD:13526986 (Homo sapiens) & RGD:11615342|RGD:11616643|RGD:126762751|RGD:127311501|RGD:13526986 (Homo sapiens)
  • 1 RGD objects have been annotated to Czech Dysplasia, Metatarsal Type  (DOID:9005817)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
  • Original References(s): PMID:25741868 PMID:28492532


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