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

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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	go back to main search page
Accession:	DOID:0110167	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.

show annotations for term's descendants Sort by:

Rat (6) Mouse (6) Human (31) Chinchilla (6) Bonobo (6) Dog (6) Squirrel (6) Pig (6) All
Genes (6)

Charcot-Marie-Tooth disease axonal type 2K

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elongin C

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K

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

ganglioside-induced differentiation-associated-protein 1

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)

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

junctophilin 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K

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

lymphocyte antigen 96

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K

PMID:15805163 PMID:20685671 PMID:21681106

NCBI chr 5:1,972,212...1,989,448

G

transmembrane protein 70

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K

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

ubiquitin-conjugating enzyme E2W

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K

PMID:15805163 PMID:20685671 PMID:21681106

NCBI chr 5:29,798,845...29,812,777

Term paths to the root

Path 1
Term	Annotations
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
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