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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TMEM67 and Infantile muscular hypotonia 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:10448805 (Homo sapiens)
  • 204 RGD objects have been annotated to Infantile muscular hypotonia  (HP:0008947)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Infantile muscular hypotonia
  • Original References(s): PMID:19574260 PMID:20232449 PMID:23351400 PMID:25741868 PMID:26092869 PMID:28492532 PMID:30029678


    • An association has been curated linking TMEM67 and Infantile muscular hypotonia 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:8556166 (Homo sapiens)
  • 204 RGD objects have been annotated to Infantile muscular hypotonia  (HP:0008947)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Decreased muscle tone in infant
  • Original References(s): PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532


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