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Charcot-Marie-Tooth disease axonal type 2K - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Charcot-Marie-Tooth disease axonal type 2K
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Accession:DOID:0110167 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. (DO)
Synonyms:exact_synonym: ARCMT2K;   CMT 2K;   CMT2K;   Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k;   Charcot-Marie-Tooth disease type 2K;   Charcot-Marie-Tooth disease, autosomal dominant, type 2K;   Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K;   autosomal recessive Charcot-Marie-Tooth disease with hoarseness;   autosomal recessive axonal CMT4C4;   autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
 xref: MESH:C535418;   MESH:C564325;   MIM:607831;   MONDO:0011916;   NCI:C133886;   ORDO:101097

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Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Eloc elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,661,527...2,677,893
Ensembl chr 5:2,661,724...2,677,890
Ensembl chr20:2,661,724...2,677,890 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO
ISS 		DNA:missense mutation:cds:p.L239F (human)
DNA:missense mutation:cds:p.P231L (human)
CTD Direct Evidence: marker/mechanism
OMIM:607831
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 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... RGD:12738396, RGD:12738397 NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 5:2,030,227...2,137,171
Ensembl chr 5:2,030,281...2,125,284 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729 		JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,690,742...2,754,491
Ensembl chr 5:2,690,763...2,814,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      musculoskeletal system disease 8469
        neuromuscular disease 3234
          Charcot-Marie-Tooth disease 729
            Charcot-Marie-Tooth disease type 2 319
              Charcot-Marie-Tooth disease axonal type 2K 8
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          neurodegenerative disease 5079
            Nervous System Heredodegenerative Disorders 3371
              motor peripheral neuropathy 1304
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type 2 319
                    Charcot-Marie-Tooth disease axonal type 2K 8
paths to the root