Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

32 Annotations Found.

An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Shimazaki H, etal., Neurology. 2002 Aug 27;59(4):590-5.
  • 2 additional annotations were made from Shimazaki H, etal., Neurology. 2002 Aug 27;59(4):590-5.
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Qualifier: susceptibility
  • Curation Notes: DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Ferrarini M, etal., J Neurol Sci. 2007 Sep 15;260(1-2):219-24. Epub 2007 Jun 18.
  • 2 additional annotations were made from Ferrarini M, etal., J Neurol Sci. 2007 Sep 15;260(1-2):219-24. Epub 2007 Jun 18.
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: DNA:missense mutation:cds:p.V320G(human)


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Castellotti B, etal., Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.
  • 5 additional annotations were made from Castellotti B, etal., Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: DNA:mutations:multiple:


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8596414 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:12196655


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8596411 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:11586299 PMID:11586300


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:12912044 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:28652255


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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 ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:10049020 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:24033266 PMID:26467025 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:10411012 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8690167 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:15164193 PMID:15596775 PMID:23659632 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:10410949 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:11586300 PMID:15365154 PMID:15790557 PMID:21228398 PMID:21984210 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:11543470 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:10409753 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:21465257 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28881617


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8596418 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:15852392 PMID:25741868


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:150546279 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:25741868 PMID:29356829


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:151349430 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:25741868 PMID:33624863


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:41406412 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:14506070 PMID:15596775 PMID:15790557 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21984210 PMID:24362567 PMID:25741868 PMID:26467025 PMID:29356829 PMID:29934293 PMID:33624863


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:151348507 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:15719174 PMID:21465257 PMID:23183622 PMID:25741868 PMID:26285866 PMID:28492532 PMID:28516743


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8596416 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:11176957 PMID:11294920 PMID:11586300 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15699391 PMID:15790557 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17242337 PMID:18403580 PMID:21465257 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29356829 PMID:29482223 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:38458873 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:15719174 PMID:21465257 PMID:23183622 PMID:24033266 PMID:26285866 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8596410 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:11586299 PMID:11586300 PMID:15276230 PMID:15876520 PMID:21486904


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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 ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens) & RGD:13214890|RGD:13531785|RGD:14695582|RGD:14696329|RGD:150407254|RGD:150407260|RGD:150447413|RGD:155265374|RGD:329847910|RGD:8690170 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:25741868


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens) & RGD:11598904|RGD:11599609|RGD:11600172|RGD:11600993|RGD:11601976|RGD:11602791|RGD:11605637|RGD:11607226|RGD:11607625|RGD:11608514|RGD:11657056|RGD:28879806|RGD:28879812|RGD:28881747|RGD:28881752|RGD:28881758|RGD:28881762|RGD:28882032|RGD:28882037|RGD:28882043|RGD:28882050|RGD:28888356|RGD:28888362|RGD:28888367|RGD:28888377 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens) & RGD:11604071|RGD:11605295|RGD:11608246|RGD:11652051|RGD:13526136|RGD:13532153|RGD:13789573|RGD:15162608|RGD:28880042|RGD:8690168 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:12893845 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:24033266 PMID:25741868 PMID:26467025 PMID:30609409


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:12843701|RGD:151868835 (Homo sapiens) & RGD:12843701|RGD:151868835 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:127294601 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:17049295 PMID:26467025 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8596415|RGD:8596417 (Homo sapiens) & RGD:8596415|RGD:8596417 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:15365154


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:10411382|RGD:8690169 (Homo sapiens) & RGD:10411382|RGD:8690169 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:11577720|RGD:13479808|RGD:8690166 (Homo sapiens) & RGD:11577720|RGD:13479808|RGD:8690166 (Homo sapiens) & RGD:11577720|RGD:13479808|RGD:8690166 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking APTX and ataxia with oculomotor apraxia type 1 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:8596412|RGD:8596413 (Homo sapiens) & RGD:8596412|RGD:8596413 (Homo sapiens)
  • 3 RGD objects have been annotated to ataxia with oculomotor apraxia type 1  (DOID:0050754)
  • 8 papers in RGD have been used to annotate APTX
  • Curation Notes: ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • Original References(s): PMID:11586299


    • Go Back to source page   Continue to Ontology report