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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 type 4A
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Accession:DOID:0110185 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)
Synonyms:exact_synonym: CMT4A;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A;   Charcot-Marie-Tooth neuropathy type 4A
 primary_id: MESH:C535419
 alt_id: OMIM:214400;   RDO:0000520
 xref: ORDO:99948
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4A
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a
DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human)
DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)
OMIM
ClinVar
PMID:11743579, PMID:11743580, PMID:12499475, PMID:12566285, PMID:12601710, PMID:12707075, PMID:12821518, PMID:14561495, PMID:15192818, PMID:15377708, PMID:15805163, PMID:16172208, PMID:17039978, PMID:17433678, PMID:18021315, PMID:18231710, PMID:18421898, PMID:18492089, PMID:18504680, PMID:18812441, PMID:18991200, PMID:19500985, PMID:19782751, PMID:20232219, PMID:20685671, PMID:20849849, PMID:21199105, PMID:21212451, PMID:21322820, PMID:21326314, PMID:21365284, PMID:21692914, PMID:21753178, PMID:21840889, PMID:21890626, PMID:21965300, PMID:22206013, PMID:22971097, PMID:23456260, PMID:23466821, PMID:23628762, PMID:23963299, PMID:25231362, PMID:25326637, PMID:25337607, PMID:25429913, PMID:25614874, PMID:25741868, PMID:26392352, PMID:26467025, PMID:26525999, PMID:28220846, PMID:28244113, PMID:28492532, PMID:28495047, PMID:28751717, PMID:29372391, PMID:30311386, PMID:11743579, PMID:11743580 RGD:12738391, RGD:12738393 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 4A ClinVar PMID:28492532 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 4A ClinVar PMID:28492532 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 4A ClinVar PMID:28492532 NCBI chr 5:2,019,852...2,037,038
Ensembl chr 5:2,019,852...2,037,038
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        neuromuscular disease 1805
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4A 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4A 4
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.