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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Tuba1a and lissencephaly 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with TUBA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to lissencephaly 3  (DOID:0112232)
  • 23 papers in RGD have been used to annotate Tuba1a


  • An association has been curated linking Tuba1a and lissencephaly 3 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 TUBA1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to lissencephaly 3  (DOID:0112232)
  • 23 papers in RGD have been used to annotate Tuba1a
  • Curation Notes: ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
  • Original References(s): PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:21403111 PMID:22408144 PMID:22495306 PMID:24088041 PMID:24510153 PMID:24860126 PMID:25059107 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25741868 PMID:26130693 PMID:26350204 PMID:26633545 PMID:26663670 PMID:28407358 PMID:28492532 PMID:29158550 PMID:29671837 PMID:29706646 PMID:29907476 PMID:30087272 PMID:30744660 PMID:31474318 PMID:31628766 PMID:31696992 PMID:31833200 PMID:32581362 PMID:32989326 PMID:33604570 PMID:34906502 PMID:3680207 PMID:6945576


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