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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking TSPAN1 and congenital muscular dystrophy-dystroglycanopathy type A in Canis lupus familiaris.        

  • 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 TSPAN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 57 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A  (DOID:0111229)
  • 0 papers in RGD have been used to annotate TSPAN1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • Original References(s): PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26908613 PMID:26990548 PMID:27391550 PMID:27604308 PMID:28492532 PMID:30961548 PMID:31589614 PMID:31980526 PMID:33144682


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