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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking OXTR and Limb-girdle muscular 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:8597836 (Homo sapiens)
  • 30 RGD objects have been annotated to Limb-girdle muscular dystrophy  (HP:0006785)
  • 8 papers in RGD have been used to annotate OXTR
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy
  • Original References(s): PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:17060380 PMID:17210839 PMID:18509671 PMID:19380584 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25630502 PMID:25741868 PMID:26467025 PMID:26498160 PMID:27483260 PMID:27930701 PMID:28492532 PMID:29961767 PMID:9536092


    • An association has been curated linking OXTR and Limb-girdle muscular 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:8597835 (Homo sapiens)
  • 30 RGD objects have been annotated to Limb-girdle muscular dystrophy  (HP:0006785)
  • 8 papers in RGD have been used to annotate OXTR
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy
  • Original References(s): PMID:11251997 PMID:15580566 PMID:16770780 PMID:17060380 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30055862 PMID:9536092


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