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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Tmem237 and Joubert syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Huang L, etal., Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.
  • The annotation has been inferred from sequence orthology with TMEM237 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Huang L, etal., Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.
  • 415 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 5 papers in RGD have been used to annotate Tmem237
  • Curation Notes: DNA:nonsense,transition mutations:cds,splice junction:


    • An association has been curated linking Tmem237 and Joubert syndrome in Rattus norvegicus.        

  • 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 TMEM237 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 415 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 5 papers in RGD have been used to annotate Tmem237
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:16199547 PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 PMID:26673778 PMID:28492532 PMID:31019026 PMID:31710777 PMID:34839509


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