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
Accession: DOID:0110167
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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 .
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
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
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
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
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
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
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