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- B1d0c94032922e02a84eb7906d0e1923f NCIT_P378 "NCI" @default.
- B1d0c94032922e02a84eb7906d0e1923f type Axiom @default.
- B1d0c94032922e02a84eb7906d0e1923f annotatedProperty IAO_0000115 @default.
- B1d0c94032922e02a84eb7906d0e1923f annotatedSource NCIT_C181980 @default.
- B1d0c94032922e02a84eb7906d0e1923f annotatedTarget "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.