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
Accession: DOID:0110185
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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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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
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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
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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 PMID:12601710 PMID:12707075 PMID:12868504 PMID:14561495 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15772096 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:16343542 PMID:17039978 PMID:17433678 PMID:17576681 PMID:18021315 PMID:18062449 PMID:18231710 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19340293 PMID:19500985 PMID:19782751 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20685671 PMID:20849849 PMID:21199105 PMID:21212451 PMID:21322820 PMID:21326314 PMID:21365284 PMID:21519004 PMID:21692914 PMID:21753178 PMID:21840889 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22546700 PMID:22971097 PMID:23456260 PMID:23466821 PMID:23628762 PMID:23963299 PMID:24078732 PMID:24627108 PMID:25168384 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26257172 PMID:26392352 PMID:26467025 PMID:26525999 PMID:26648837 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28379183 PMID:28492532 PMID:28495047 PMID:28673555 PMID:28751717 PMID:28902413 PMID:29184355 PMID:29372391 PMID:29858556 PMID:31069529 PMID:31211173 PMID:31589614 PMID:31655048 PMID:31673878 PMID:31827005 PMID:32183277 PMID:32298515 PMID:32305867 PMID:32376792 PMID:33136338 PMID:33179230 PMID:33187793 PMID:33219631 PMID:33477664 PMID:33480199 PMID:33903021 PMID:34057104 PMID:34169998 PMID:34190362 PMID:34366782 PMID:35531120 PMID:35656516 PMID:35662277 PMID:36140714 PMID:36801589 PMID:36912213 PMID:37091313 PMID:11743579 PMID:11743580 More...
RGD:12738391 , RGD:12738393
NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:6,715,935...6,735,313
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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
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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
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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
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