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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking LOC129996730 and Ullrich congenital muscular dystrophy 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:38482296 (Homo sapiens)
  • 9 RGD objects have been annotated to Ullrich congenital muscular dystrophy 2  (DOID:0060948)
  • 0 papers in RGD have been used to annotate LOC129996730
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2
  • Original References(s): PMID:24334604 PMID:28492532 PMID:28973083


    • An association has been curated linking LOC129996730 and Ullrich congenital muscular dystrophy 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:152062504|RGD:405068322 (Homo sapiens) & RGD:152062504|RGD:405068322 (Homo sapiens)
  • 9 RGD objects have been annotated to Ullrich congenital muscular dystrophy 2  (DOID:0060948)
  • 0 papers in RGD have been used to annotate LOC129996730
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2
  • Original References(s): PMID:28492532


    • An association has been curated linking LOC129996730 and Ullrich congenital muscular dystrophy 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:151778306|RGD:156349194|RGD:597891407 (Homo sapiens) & RGD:151778306|RGD:156349194|RGD:597891407 (Homo sapiens) & RGD:151778306|RGD:156349194|RGD:597891407 (Homo sapiens)
  • 9 RGD objects have been annotated to Ullrich congenital muscular dystrophy 2  (DOID:0060948)
  • 0 papers in RGD have been used to annotate LOC129996730
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


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