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GENE - TERM ANNOTATION REPORT

RGD ID: 62330
Species: Mus musculus
RGD Object: Gene
Symbol: Dctn1
Name: dynactin 1
Acc ID: DOID:0111202
Term: autosomal dominant distal hereditary motor neuronopathy 14
Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12627231 "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)
Dctn1susceptibilityISODCTN1 (Homo sapiens)7240710OMIM  
Dctn1 ISODCTN1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dctn1 ISODCTN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7BPMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28717666 PMID:28792508 PMID:29525180 PMID:32028661 PMID:32402491 PMID:32461654 PMID:33369814 PMID:33408239 PMID:33973882 PMID:9536098
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