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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Atp7a and X-linked distal spinal muscular atrophy 3 in Rattus norvegicus.        

  • 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 ATP7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to X-linked distal spinal muscular atrophy 3  (DOID:0111196)
  • 56 papers in RGD have been used to annotate Atp7a


    • An association has been curated linking Atp7a and X-linked distal spinal muscular atrophy 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kennerson ML, etal., Am J Hum Genet. 2010 Mar 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18.
  • The annotation has been inferred from sequence orthology with ATP7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kennerson ML, etal., Am J Hum Genet. 2010 Mar 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18.
  • 1 RGD objects have been annotated to X-linked distal spinal muscular atrophy 3  (DOID:0111196)
  • 56 papers in RGD have been used to annotate Atp7a
  • Curation Notes: DNA:missense mutations:cds:p.P1386S, p.T994I (human)


    • An association has been curated linking Atp7a and X-linked distal spinal muscular atrophy 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Perez-Siles G, etal., Metallomics. 2016 Jun 13.
  • The annotation has been inferred from sequence orthology with Atp7a (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Perez-Siles G, etal., Metallomics. 2016 Jun 13.
  • 1 RGD objects have been annotated to X-linked distal spinal muscular atrophy 3  (DOID:0111196)
  • 56 papers in RGD have been used to annotate Atp7a
  • Curation Notes: knock in;DNA:missense mutation:cds:p.T985I (mouse)


    • An association has been curated linking Atp7a and X-linked distal spinal muscular atrophy 3 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Atp7a (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to X-linked distal spinal muscular atrophy 3  (DOID:0111196)
  • 56 papers in RGD have been used to annotate Atp7a
  • Curation Notes: OMIM:300489


    • An association has been curated linking Atp7a and X-linked distal spinal muscular atrophy 3 in Rattus norvegicus.        

  • 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 ATP7A (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to X-linked distal spinal muscular atrophy 3  (DOID:0111196)
  • 56 papers in RGD have been used to annotate Atp7a
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Atp7a and X-linked distal spinal muscular atrophy 3 in Rattus norvegicus.        

  • 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 ATP7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to X-linked distal spinal muscular atrophy 3  (DOID:0111196)
  • 56 papers in RGD have been used to annotate Atp7a
  • Curation Notes: ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
  • Original References(s): PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:18414213 PMID:19153371 PMID:20045993 PMID:20170900 PMID:20652413 PMID:22210628 PMID:23281160 PMID:24033266 PMID:25428120 PMID:25741868 PMID:28119449 PMID:28492532 PMID:29653220


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