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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, type 4A;   Charcot-Marie-Tooth disease, demyelinating, type 4A;   Charcot-Marie-Tooth neuropathy type 4A
 xref: MESH:C535419;   MIM:214400;   MONDO:0008961;   ORDO:99948


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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 Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr17:15,449,011...15,511,423
Ensembl chr17:15,435,894...15,511,305 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO 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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A 		OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 More... RGD:12738391, RGD:12738393 NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:6,715,935...6,735,313 		JBrowse link
G Jph1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:6,813,553...6,920,488
Ensembl chr 5:6,813,602...6,906,241 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:7,365,536...7,397,864
Ensembl chr 5:7,365,557...7,395,816 		JBrowse link
G Tmem70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 5:7,420,396...7,438,023
Ensembl chr 5:7,420,396...7,438,023 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        neuromuscular disease 3236
          Charcot-Marie-Tooth disease 730
            Charcot-Marie-Tooth disease type 4 63
              Charcot-Marie-Tooth disease type 4A 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          neurodegenerative disease 5086
            Nervous System Heredodegenerative Disorders 3381
              motor peripheral neuropathy 1307
                Charcot-Marie-Tooth disease 730
                  Charcot-Marie-Tooth disease type 4 63
                    Charcot-Marie-Tooth disease type 4A 6
paths to the root