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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking TMEM123 and asphyxiating thoracic dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151886969 (Homo sapiens)
  • 268 RGD objects have been annotated to asphyxiating thoracic dystrophy  (DOID:0050592)
  • 2 papers in RGD have been used to annotate TMEM123
  • Curation Notes: ClinVar Annotator: match by term: Jeune thoracic dystrophy
  • Original References(s): PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734


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