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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SPAG8 and acromesomelic dysplasia, Maroteaux type in Sus scrofa.        

  • 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 SPAG8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 85 RGD objects have been annotated to acromesomelic dysplasia, Maroteaux type  (DOID:0080050)
  • 0 papers in RGD have been used to annotate SPAG8
  • Curation Notes: ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
  • Original References(s): PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 PMID:22691581 PMID:25387261 PMID:25741868 PMID:26567084 PMID:26633542 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30622824 PMID:31960617 PMID:32165824 PMID:32720985 PMID:33288834


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