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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pomt2 and muscular dystrophy 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 POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 275 CRRD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 11 papers in CRRD have been used to annotate Pomt2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy
  • Original References(s): PMID:25741868

  • This annotation was curated on 2020-03-26 10:13:53.0 by CRRD . For more information contact us

    An association has been curated linking Pomt2 and muscular dystrophy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Yanagisawa A, etal., Neurology. 2007 Sep 18;69(12):1254-60. Epub 2007 Jul 18.
  • The annotation has been inferred from sequence orthology with POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yanagisawa A, etal., Neurology. 2007 Sep 18;69(12):1254-60. Epub 2007 Jul 18.
  • 275 CRRD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 11 papers in CRRD have been used to annotate Pomt2
  • Curation Notes: DNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human)

  • This annotation was curated on 2018-05-19 09:00:51.0 by CRRD . For more information contact us

    An association has been curated linking Pomt2 and muscular dystrophy 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 POMT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 275 CRRD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 11 papers in CRRD have been used to annotate Pomt2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy
  • Original References(s): PMID:17634419, PMID:17878207, PMID:17878297, PMID:19138766, PMID:19299310, PMID:24002165, PMID:25741868, PMID:27854218, PMID:28492532

  • This annotation was curated on 2020-03-26 10:17:36.0 by CRRD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.