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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Itga7 and congenital muscular dystrophy due to integrin alpha-7 deficiency in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Mayer U, etal., Nat Genet. 1997 Nov;17(3):318-23. doi: 10.1038/ng1197-318.
  • 2 additional annotations were made from Mayer U, etal., Nat Genet. 1997 Nov;17(3):318-23. doi: 10.1038/ng1197-318.
  • 3 RGD objects have been annotated to congenital muscular dystrophy due to integrin alpha-7 deficiency  (DOID:0110639)
  • 17 papers in RGD have been used to annotate Itga7


    • An association has been curated linking Itga7 and congenital muscular dystrophy due to integrin alpha-7 deficiency in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ITGA7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to congenital muscular dystrophy due to integrin alpha-7 deficiency  (DOID:0110639)
  • 17 papers in RGD have been used to annotate Itga7


    • An association has been curated linking Itga7 and congenital muscular dystrophy due to integrin alpha-7 deficiency in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 3 RGD objects have been annotated to congenital muscular dystrophy due to integrin alpha-7 deficiency  (DOID:0110639)
  • 17 papers in RGD have been used to annotate Itga7
  • Curation Notes: OMIM:613204


    • An association has been curated linking Itga7 and congenital muscular dystrophy due to integrin alpha-7 deficiency in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ITGA7 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to congenital muscular dystrophy due to integrin alpha-7 deficiency  (DOID:0110639)
  • 17 papers in RGD have been used to annotate Itga7
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Itga7 and congenital muscular dystrophy due to integrin alpha-7 deficiency in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with ITGA7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to congenital muscular dystrophy due to integrin alpha-7 deficiency  (DOID:0110639)
  • 17 papers in RGD have been used to annotate Itga7
  • Curation Notes: ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency
  • Original References(s): PMID:12057917 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:31785789 PMID:34552617 PMID:9536098 PMID:9590299


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