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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;   Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K;   Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k;   Charcot-Marie-Tooth disease type 2K;   Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K;   Cmt2k;   autosomal recessive Charcot-Marie-Tooth disease with hoarseness;   autosomal recessive axonal CMT4C4;   autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
 primary_id: MESH:C535418;   MESH:C564325
 alt_id: OMIM:607831
 xref: NCI:C133886;   ORDO:101097
For additional species annotation, visit the Alliance of Genome Resources.


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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 Eloc elongin C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,042,991...2,059,357
Ensembl chr 5:2,042,991...2,059,351
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO 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
ClinVar Annotator: match by OMIM:607831
DNA:missense mutation:cds:p.L239F (human)
DNA:missense mutation:cds:p.P231L (human)
OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18231710 PMID:18492089 PMID:18504680 PMID:18991200 PMID:19089472 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21212451 PMID:21681106 PMID:21753178 PMID:21840889 PMID:21890626 PMID:22971097 PMID:23456260 PMID:23628762 PMID:23963299 PMID:25231362 PMID:25741868 PMID:26467025 PMID:26525999 PMID:28220846 PMID:28492532, PMID:20232219, PMID:18492089 RGD:12738396, RGD:12738397 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K OMIM
ClinVar
PMID:15805163 PMID:20685671 PMID:21681106 PMID:25168384 NCBI chr 5:1,417,414...1,511,754
Ensembl chr 5:1,417,478...1,511,416
JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:1,972,212...1,989,448 JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link
G Ube2w ubiquitin-conjugating enzyme E2W ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K ClinVar PMID:15805163 PMID:20685671 PMID:21681106 NCBI chr 5:29,798,845...29,812,777 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        neuromuscular disease 1776
          Charcot-Marie-Tooth disease 326
            Charcot-Marie-Tooth disease type 2 64
              Charcot-Marie-Tooth disease axonal type 2K 6
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          neurodegenerative disease 3342
            Nervous System Heredodegenerative Disorders 1977
              motor peripheral neuropathy 480
                Charcot-Marie-Tooth disease 326
                  Charcot-Marie-Tooth disease type 2 64
                    Charcot-Marie-Tooth disease axonal type 2K 6
paths to the root