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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking COMP and osteochondrodysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Briggs MD, etal., Nat Genet. 1995 Jul;10(3):330-6.
  • 2 additional annotations were made from Briggs MD, etal., Nat Genet. 1995 Jul;10(3):330-6.
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: multiple epiphyseal dysplasia EDM1, OMIM:132400,D342Y


    • An association has been curated linking COMP and osteochondrodysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hecht JT, etal., Nat Genet. 1995 Jul;10(3):325-9.
  • 2 additional annotations were made from Hecht JT, etal., Nat Genet. 1995 Jul;10(3):325-9.
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: pseudoachondroplasia, OMIM:177170, D472Y, C468Y, 1400-1402delTCA


    • An association has been curated linking COMP and osteochondrodysplasia 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:40903838 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
  • Original References(s): PMID:12483304 PMID:25741868 PMID:28051032 PMID:28492532


    • An association has been curated linking COMP and osteochondrodysplasia 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:8598192 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
  • Original References(s): PMID:25741868 PMID:28492532 PMID:9021009


    • An association has been curated linking COMP and osteochondrodysplasia 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:8604555 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
  • Original References(s): PMID:25741868


    • An association has been curated linking COMP and osteochondrodysplasia 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:8598198 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
  • Original References(s): PMID:12483304 PMID:14684695 PMID:21834907 PMID:21965141 PMID:24595329 PMID:25741868 PMID:28492532 PMID:32686688


    • An association has been curated linking COMP and osteochondrodysplasia 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:8604556 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
  • Original References(s): PMID:11565064 PMID:17570134 PMID:23956175 PMID:28492532 PMID:9463320


    • An association has been curated linking COMP and osteochondrodysplasia 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:8621791 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
  • Original References(s): PMID:12483304 PMID:14684695 PMID:15756302 PMID:21834907 PMID:21965141 PMID:24595329 PMID:28492532


    • An association has been curated linking COMP and osteochondrodysplasia 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:151233684 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia
  • Original References(s): PMID:21922596 PMID:25741868 PMID:28492532


    • An association has been curated linking COMP and osteochondrodysplasia 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:8621787|RGD:8621788|RGD:8621789|RGD:8621790 (Homo sapiens) & RGD:8621787|RGD:8621788|RGD:8621789|RGD:8621790 (Homo sapiens) & RGD:8621787|RGD:8621788|RGD:8621789|RGD:8621790 (Homo sapiens) & RGD:8621787|RGD:8621788|RGD:8621789|RGD:8621790 (Homo sapiens)
  • 1292 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 8 papers in RGD have been used to annotate COMP
  • Curation Notes: ClinVar Annotator: match by term: Multiple epiphyseal dysplasia


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