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- NCIT_C181980 IAO_0000115 "Human ATP1A3 wild-type allele is located in the vicinity of 19q13.2 and is approximately 31 kb in length. This allele, which encodes sodium/potassium-transporting ATPase subunit alpha-3 protein, plays a role in the exchange of sodium and potassium ions across the plasma membrane of neurons, resulting in a electrochemical gradient that promotes nutrient transport. Mutation of the gene is associated with alternating hemiplegia of childhood 2, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome and dystonia type 12." @default.
- NCIT_C181980 NCIT_NHC0 "C181980" @default.
- NCIT_C181980 NCIT_P100 "182350" @default.
- NCIT_C181980 NCIT_P102 "NM_152296" @default.
- NCIT_C181980 NCIT_P106 "Gene or Genome" @default.
- NCIT_C181980 NCIT_P107 "ATP1A3 wt Allele" @default.
- NCIT_C181980 NCIT_P108 "ATP1A3 wt Allele" @default.
- NCIT_C181980 NCIT_P208 "CL1664908" @default.
- NCIT_C181980 NCIT_P321 "478" @default.
- NCIT_C181980 NCIT_P322 "CTRP" @default.
- NCIT_C181980 NCIT_R130 NCIT_C19779 @default.
- NCIT_C181980 NCIT_R130 NCIT_C20633 @default.
- NCIT_C181980 NCIT_R130 NCIT_C91467 @default.
- NCIT_C181980 NCIT_R130 NCIT_C91494 @default.
- NCIT_C181980 NCIT_R130 NCIT_C91503 @default.
- NCIT_C181980 NCIT_R130 NCIT_C91810 @default.
- NCIT_C181980 NCIT_R130 NCIT_C91811 @default.
- NCIT_C181980 NCIT_R130 NCIT_C91822 @default.
- NCIT_C181980 NCIT_R37 NCIT_C16702 @default.
- NCIT_C181980 NCIT_R37 NCIT_C17710 @default.
- NCIT_C181980 NCIT_R37 NCIT_C17828 @default.
- NCIT_C181980 NCIT_R37 NCIT_C18219 @default.
- NCIT_C181980 NCIT_R37 NCIT_C19403 @default.
- NCIT_C181980 NCIT_R37 NCIT_C19536 @default.
- NCIT_C181980 NCIT_R37 NCIT_C19899 @default.
- NCIT_C181980 NCIT_R37 NCIT_C19939 @default.
- NCIT_C181980 NCIT_R37 NCIT_C19986 @default.
- NCIT_C181980 NCIT_R37 NCIT_C20139 @default.
- NCIT_C181980 NCIT_R37 NCIT_C20480 @default.
- NCIT_C181980 NCIT_R37 NCIT_C21079 @default.
- NCIT_C181980 NCIT_R37 NCIT_C21198 @default.
- NCIT_C181980 NCIT_R37 NCIT_C28498 @default.
- NCIT_C181980 NCIT_R37 NCIT_C40515 @default.
- NCIT_C181980 NCIT_R40 NCIT_C12219 @default.
- NCIT_C181980 NCIT_R40 NCIT_C13282 @default.
- NCIT_C181980 NCIT_R40 NCIT_C13377 @default.
- NCIT_C181980 NCIT_R40 NCIT_C13432 @default.
- NCIT_C181980 NCIT_R40 NCIT_C13446 @default.
- NCIT_C181980 NCIT_R40 NCIT_C13655 @default.
- NCIT_C181980 NCIT_R40 NCIT_C14135 @default.
- NCIT_C181980 NCIT_R40 NCIT_C32221 @default.
- NCIT_C181980 NCIT_R40 NCIT_C34070 @default.
- NCIT_C181980 NCIT_R41 NCIT_C14182 @default.
- NCIT_C181980 NCIT_R41 NCIT_C14225 @default.
- NCIT_C181980 NCIT_R41 NCIT_C14234 @default.
- NCIT_C181980 NCIT_R41 NCIT_C14250 @default.
- NCIT_C181980 NCIT_R41 NCIT_C14262 @default.
- NCIT_C181980 NCIT_R41 NCIT_C14282 @default.
- NCIT_C181980 NCIT_R41 NCIT_C25796 @default.
- NCIT_C181980 NCIT_R41 NCIT_C79740 @default.
- NCIT_C181980 normalizedInformationContent "100" @default.
- NCIT_C181980 referenceCount "1" @default.
- NCIT_C181980 hasExactSynonym "AHC2" @default.
- NCIT_C181980 hasExactSynonym "ATP1A1" @default.
- NCIT_C181980 hasExactSynonym "ATP1A3 wt Allele" @default.
- NCIT_C181980 hasExactSynonym "ATPase Na+/K+ Transporting Subunit Alpha 3 wt Allele" @default.
- NCIT_C181980 hasExactSynonym "ATPase, Na(+)/K(+), Alpha III Gene" @default.
- NCIT_C181980 hasExactSynonym "ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide Gene" @default.
- NCIT_C181980 hasExactSynonym "ATPase, Na+/K+ Transporting, Alpha-3 Polypeptide Gene" @default.
- NCIT_C181980 hasExactSynonym "CAPOS" @default.
- NCIT_C181980 hasExactSynonym "DYT12" @default.
- NCIT_C181980 hasExactSynonym "Dystonia 12 Gene" @default.
- NCIT_C181980 hasExactSynonym "Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit 3 Gene" @default.
- NCIT_C181980 hasExactSynonym "Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit Gene" @default.
- NCIT_C181980 hasExactSynonym "Na+/K+ ATPase 3 Gene" @default.
- NCIT_C181980 hasExactSynonym "RDP" @default.
- NCIT_C181980 hasExactSynonym "Sodium-Potassium-ATPase, Alpha 3 Polypeptide Gene" @default.
- NCIT_C181980 hasExactSynonym "Sodium-Potassium-ATPase, Alpha-3 Polypeptide Gene" @default.
- NCIT_C181980 inSubset NCIT_C116977 @default.
- NCIT_C181980 inSubset NCIT_C142799 @default.
- NCIT_C181980 inSubset NCIT_C142800 @default.
- NCIT_C181980 type Class @default.
- NCIT_C181980 isDefinedBy ncit.owl @default.
- NCIT_C181980 label "ATP1A3 wt Allele" @default.
- NCIT_C181980 subClassOf NCIT_C158414 @default.
- NCIT_C181980 subClassOf NCIT_C16612 @default.
- NCIT_C181980 subClassOf NCIT_C181979 @default.
- NCIT_C181980 subClassOf NCIT_C181980 @default.
- NCIT_C181980 subClassOf NCIT_C21281 @default.
- NCIT_C181980 subClassOf NCIT_C21295 @default.
- NCIT_C181980 subClassOf NCIT_C28533 @default.
- NCIT_C181980 equivalentClass B413139e04ac46c162f47c93b336607bf @default.
- NCIT_C181980 equivalentClass B91e26c86d0674927ecae2b038336e464 @default.