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

5 Annotations Found.

An association has been curated linking Gdap1 and Charcot-Marie-Tooth disease type 4A in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Baxter RV, etal., Nat Genet. 2002 Jan;30(1):21-2. Epub 2001 Dec 17.
  • The annotation has been inferred from sequence orthology with GDAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Baxter RV, etal., Nat Genet. 2002 Jan;30(1):21-2. Epub 2001 Dec 17.
  • 4 RGD objects have been annotated to Charcot-Marie-Tooth disease type 4A  (DOID:0110185)
  • 17 papers in RGD have been used to annotate Gdap1
  • Curation Notes: DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human)


    • An association has been curated linking Gdap1 and Charcot-Marie-Tooth disease type 4A in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cuesta A, etal., Nat Genet. 2002 Jan;30(1):22-5. Epub 2001 Dec 17.
  • The annotation has been inferred from sequence orthology with GDAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cuesta A, etal., Nat Genet. 2002 Jan;30(1):22-5. Epub 2001 Dec 17.
  • 4 RGD objects have been annotated to Charcot-Marie-Tooth disease type 4A  (DOID:0110185)
  • 17 papers in RGD have been used to annotate Gdap1
  • Curation Notes: DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)


    • An association has been curated linking Gdap1 and Charcot-Marie-Tooth disease type 4A 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 GDAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Charcot-Marie-Tooth disease type 4A  (DOID:0110185)
  • 17 papers in RGD have been used to annotate Gdap1


    • An association has been curated linking Gdap1 and Charcot-Marie-Tooth disease type 4A 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 GDAP1 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Charcot-Marie-Tooth disease type 4A  (DOID:0110185)
  • 17 papers in RGD have been used to annotate Gdap1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Gdap1 and Charcot-Marie-Tooth disease type 4A 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 GDAP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Charcot-Marie-Tooth disease type 4A  (DOID:0110185)
  • 17 papers in RGD have been used to annotate Gdap1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive
  • Original References(s): PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:12868504 PMID:14561495 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:16343542 PMID:17039978 PMID:17433678 PMID:17576681 PMID:18021315 PMID:18062449 PMID:18231710 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19340293 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21212451 PMID:21322820 PMID:21326314 PMID:21365284 PMID:21519004 PMID:21692914 PMID:21753178 PMID:21840889 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22546700 PMID:22971097 PMID:23456260 PMID:23466821 PMID:23628762 PMID:23963299 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:257 PMID:25741868 PMID:25741909 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26525999 PMID:26648837 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:28902413 PMID:29184355 PMID:29372391 PMID:29858556 PMID:31069529 PMID:31589614 PMID:31673878 PMID:31827005 PMID:32183277 PMID:32298515 PMID:32376792 PMID:33136338 PMID:33179230 PMID:33187793 PMID:33219631 PMID:33477664 PMID:33903021 PMID:34169998 PMID:34190362 PMID:34366782 PMID:35656516 PMID:35662277 PMID:36140714 PMID:9536098


    • Go Back to source page   Continue to Ontology report