Preferred Label : ATP1A1 Gene Mutation;
NCIt synonyms : CMT2DD Gene Mutation; ATPase, Na /K Transporting, Alpha 1 Polypeptide Gene Mutation; ATPase Na /K Transporting Subunit Alpha 1 Gene Mutation; ATPase, Na /K Transporting, Alpha-1 Polypeptide Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the ATP1A1 gene.;
NCI Metathesaurus CUI : CL935954;
Origin ID : C156935;
UMLS CUI : C4745174;
Molecular abnormality of diseases
Semantic type(s)
molecular_abnormality_involves_gene