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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:30311386, 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 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        neuromuscular disease 1778
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease axonal type 2K 6
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease axonal type 2K 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.