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GENE - TERM ANNOTATION REPORT

RGD ID: 2167
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Atp1a1
Name: ATPase Na+/K+ transporting subunit alpha 1
Acc ID: DOID:0111558
Term: Charcot-Marie-Tooth disease type 2DD
Definition: A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/29499166 "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)
Atp1a1 ISOATP1A1 (Homo sapiens)7240710OMIM  
Atp1a1 ISOATP1A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DDPMID:21208200 PMID:21494555 PMID:25741868 PMID:28492532 PMID:29499166 PMID:30388404 PMID:31705535 PMID:31707753 PMID:7977350 PMID:8526465 PMID:8981948
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