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GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking COL6A3 and Tip-toe gait 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:10046745 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Toe walking
  • Original References(s): PMID:25741868 PMID:26004199 PMID:28492532


    • An association has been curated linking COL6A3 and Tip-toe gait 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:13518657 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:25741868 PMID:28492532 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:401795722 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:151235640 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:25741868 PMID:28492532 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:10052010 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:30564623 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:13817608 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:28492532 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:13497359 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:25741868 PMID:28492532 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:8641899 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:25741868 PMID:28492532 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:14707556 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:25741868 PMID:28492532 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:8641863 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:25741868 PMID:28492532 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:8659350 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:15689448 PMID:24332716 PMID:25741868 PMID:26467025 PMID:27708273 PMID:27854218 PMID:28492532 PMID:28562329 PMID:37091313


    • An association has been curated linking COL6A3 and Tip-toe gait 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:8659348 (Homo sapiens)
  • 146 RGD objects have been annotated to Tip-toe gait  (HP:0030051)
  • 21 papers in RGD have been used to annotate COL6A3
  • Curation Notes: ClinVar Annotator: match by term: Tip-toe gait
  • Original References(s): PMID:18414213 PMID:28492532 PMID:37091313


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