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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Tmem216 and Joubert syndrome 1 in Mus musculus.        

  • 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 TMEM216 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 239 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 5 papers in RGD have been used to annotate Tmem216
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20036350 PMID:20301500 PMID:20307669 PMID:20512146 PMID:22282472 PMID:22406018 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:9536098


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