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GENE - TERM ANNOTATION REPORT

RGD ID: 12281541
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: GDAP1
Name: ganglioside induced differentiation associated protein 1
Acc ID: DOID:0110167
Term: Charcot-Marie-Tooth disease axonal type 2K
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)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12707075 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
GDAP1 ISOGDAP1 (Homo sapiens)7240710OMIM  
GDAP1 ISOGDAP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2KPMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:12843336 PMID:12868504 PMID:14561495 PMID:15019704 PMID:15192818 PMID:15377708 PMID:15469949 PMID:15805163 PMID:15944907 PMID:16172208 PMID:16199547 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18231710 PMID:18421898 PMID:18492089 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19089472 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:21681106 PMID:21692914 PMID:21753178 PMID:21840889 PMID:21890626 PMID:21965300 PMID:22206013 PMID:22546700 PMID:22730194 PMID:22971097 PMID:23456260 PMID:23628762 PMID:23963299 PMID:24078732 PMID:24627108 PMID:25231362 PMID:25337607 PMID:25429913 PMID:25614874 PMID:25741868 PMID:26257172 PMID:26467025 PMID:26525999 PMID:26848201 PMID:27549087 PMID:27841286 PMID:28220846 PMID:28244113 PMID:28492532 PMID:28495047 PMID:28751717 PMID:29372391 PMID:31211173 PMID:31589614 PMID:31673878 PMID:32183277 PMID:32376792 PMID:33136338 PMID:33187793 PMID:33477664 PMID:33480199 PMID:33903021 PMID:34057104 PMID:34366782 PMID:35656516 PMID:35662277 PMID:36140714
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