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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Tmem67 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 TMEM67 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 414 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 28 papers in RGD have been used to annotate Tmem67
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26546361 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:2929661 PMID:29891882 PMID:29947050 PMID:32000717 PMID:34675960 PMID:34964473 PMID:36703223 PMID:9375913 PMID:9536098


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