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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Timm8a1 and deafness-dystonia-optic neuronopathy syndrome 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 TIMM8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 12 papers in RGD have been used to annotate Timm8a1


  • An association has been curated linking Timm8a1 and deafness-dystonia-optic neuronopathy syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TIMM8A (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 12 papers in RGD have been used to annotate Timm8a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11803487


  • An association has been curated linking Timm8a1 and deafness-dystonia-optic neuronopathy syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Swerdlow RH and Wooten GF, Ann Neurol. 2001 Oct;50(4):537-40.
  • The annotation has been inferred from sequence orthology with TIMM8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Swerdlow RH and Wooten GF, Ann Neurol. 2001 Oct;50(4):537-40.
  • 2 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 12 papers in RGD have been used to annotate Timm8a1
  • Curation Notes: DNA:deletion:cds:108delG(human)


  • An association has been curated linking Timm8a1 and deafness-dystonia-optic neuronopathy syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ezquerra M, etal., Arch Neurol. 2005 Feb;62(2):306-8.
  • The annotation has been inferred from sequence orthology with TIMM8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Ezquerra M, etal., Arch Neurol. 2005 Feb;62(2):306-8.
  • 2 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 12 papers in RGD have been used to annotate Timm8a1
  • Curation Notes: DNA:mutation:intron:IVS1-23A>C(human)


  • An association has been curated linking Timm8a1 and deafness-dystonia-optic neuronopathy syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Bahmad F, etal., Laryngoscope. 2007 Jul;117(7):1202-8.
  • The annotation has been inferred from sequence orthology with TIMM8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Bahmad F, etal., Laryngoscope. 2007 Jul;117(7):1202-8.
  • 2 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 12 papers in RGD have been used to annotate Timm8a1
  • Curation Notes: DNA:mutation:exon:116delT(Q38fsX64)(human)


  • An association has been curated linking Timm8a1 and deafness-dystonia-optic neuronopathy 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 TIMM8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 12 papers in RGD have been used to annotate Timm8a1
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome
  • Original References(s): PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:11956200 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:21984432 PMID:22736418 PMID:24033266 PMID:25741868 PMID:28492532 PMID:8841189


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