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GENE - TERM ANNOTATION REPORT

26 Annotations Found.

An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562368 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
  • Original References(s): PMID:11601506


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562369 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
  • Original References(s): PMID:15037720 PMID:8841189


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562364 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
  • Original References(s): PMID:8841189


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11803487


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562372 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
  • Original References(s): PMID:16411215


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8566927 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562366 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
  • Original References(s): PMID:11803487


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562371 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
  • Original References(s): PMID:15710860


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562370 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
  • Original References(s): PMID:11405816


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:38458677 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome
  • Original References(s): PMID:15037720 PMID:17851739 PMID:17936919 PMID:24033266 PMID:8841189


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

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


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

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


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

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


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:21073788 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:152979897 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:152977775 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:152977773 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:152977774 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:152977772 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:243050341 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151661541 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151661211 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8566926 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome
  • Original References(s): PMID:17999202 PMID:20301395


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562367 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome
  • Original References(s): PMID:10878669 PMID:20301395 PMID:25741868


  • An association has been curated linking TIMM8A and deafness-dystonia-optic neuronopathy syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8562365 (Homo sapiens)
  • 3 RGD objects have been annotated to deafness-dystonia-optic neuronopathy syndrome  (DOID:0050757)
  • 10 papers in RGD have been used to annotate TIMM8A
  • Curation Notes: ClinVar Annotator: match by term: Deafness dystonia syndrome
  • Original References(s): PMID:25741868 PMID:8841189


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