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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gdap1 and Charcot-Marie-Tooth disease axonal type 2K in Chinchilla lanigera.        

  • 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]
  • 7 RGD objects have been annotated to Charcot-Marie-Tooth disease axonal type 2K  (DOID:0110167)
  • 2 papers in RGD have been used to annotate Gdap1


    • An association has been curated linking Gdap1 and Charcot-Marie-Tooth disease axonal type 2K in Chinchilla lanigera.        

  • 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]
  • 7 RGD objects have been annotated to Charcot-Marie-Tooth disease axonal type 2K  (DOID:0110167)
  • 2 papers in RGD have been used to annotate Gdap1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
  • Original References(s): PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:12843336 PMID:12868504 PMID:14561495 PMID:15019704 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18231710 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19089472 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:21681106 PMID:21692914 PMID:21753178 PMID:21840889 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22546700 PMID:22730194 PMID:22971097 PMID:23456260 PMID:23628762 PMID:23963299 PMID:24078732 PMID:24627108 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:257 PMID:25741868 PMID:25741909 PMID:26257172 PMID:26467025 PMID:26525999 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:29372391 PMID:31589614 PMID:31673878 PMID:32183277 PMID:32376792 PMID:33136338 PMID:33187793 PMID:33477664 PMID:33903021 PMID:34366782 PMID:35656516 PMID:35662277 PMID:36140714


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