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- NCIT_C191381 IAO_0000115 "Human CACNA1A wild-type allele is located in the vicinity of 19p13.13 and is approximately 427 kb in length. This allele, which encodes voltage-dependent P/Q-type calcium channel subunit alpha-1A protein, is involved in voltage-dependent calcium transport. Mutation of the gene is associated with developmental and epileptic encephalopathy 42, familial hemiplegic migraine 1 and episodic ataxia 2. Expansion of the (CAG)n-repeats in the coding region, which encode a polyglutamine tract, from the normal 4-18 to 21-33 is associated with spinocerebellar ataxia 6." @default.
- NCIT_C191381 NCIT_NHC0 "C191381" @default.
- NCIT_C191381 NCIT_P100 "601011" @default.
- NCIT_C191381 NCIT_P102 "U79666" @default.
- NCIT_C191381 NCIT_P106 "Gene or Genome" @default.
- NCIT_C191381 NCIT_P108 "CACNA1A wt Allele" @default.
- NCIT_C191381 NCIT_P208 "CL1904777" @default.
- NCIT_C191381 NCIT_P321 "773" @default.
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- NCIT_C191381 NCIT_R130 NCIT_C38834 @default.
- NCIT_C191381 NCIT_R130 NCIT_C39701 @default.
- NCIT_C191381 NCIT_R130 NCIT_C91453 @default.
- NCIT_C191381 NCIT_R130 NCIT_C91460 @default.
- NCIT_C191381 NCIT_R130 NCIT_C91463 @default.
- NCIT_C191381 NCIT_R130 NCIT_C91490 @default.
- NCIT_C191381 NCIT_R130 NCIT_C91822 @default.
- NCIT_C191381 NCIT_R37 NCIT_C16395 @default.
- NCIT_C191381 NCIT_R37 NCIT_C17710 @default.
- NCIT_C191381 NCIT_R37 NCIT_C17828 @default.
- NCIT_C191381 NCIT_R37 NCIT_C18219 @default.
- NCIT_C191381 NCIT_R37 NCIT_C19950 @default.
- NCIT_C191381 NCIT_R37 NCIT_C19986 @default.
- NCIT_C191381 NCIT_R37 NCIT_C20139 @default.
- NCIT_C191381 NCIT_R37 NCIT_C20480 @default.
- NCIT_C191381 NCIT_R37 NCIT_C21079 @default.
- NCIT_C191381 NCIT_R37 NCIT_C21124 @default.
- NCIT_C191381 NCIT_R37 NCIT_C21575 @default.
- NCIT_C191381 NCIT_R37 NCIT_C28498 @default.
- NCIT_C191381 NCIT_R37 NCIT_C40515 @default.
- NCIT_C191381 NCIT_R37 NCIT_C40792 @default.
- NCIT_C191381 NCIT_R40 NCIT_C12219 @default.
- NCIT_C191381 NCIT_R40 NCIT_C13282 @default.
- NCIT_C191381 NCIT_R40 NCIT_C13377 @default.
- NCIT_C191381 NCIT_R40 NCIT_C13432 @default.
- NCIT_C191381 NCIT_R40 NCIT_C13446 @default.
- NCIT_C191381 NCIT_R40 NCIT_C13673 @default.
- NCIT_C191381 NCIT_R40 NCIT_C14135 @default.
- NCIT_C191381 NCIT_R40 NCIT_C32221 @default.
- NCIT_C191381 NCIT_R40 NCIT_C34070 @default.
- NCIT_C191381 NCIT_R41 NCIT_C14182 @default.
- NCIT_C191381 NCIT_R41 NCIT_C14225 @default.
- NCIT_C191381 NCIT_R41 NCIT_C14234 @default.
- NCIT_C191381 NCIT_R41 NCIT_C14250 @default.
- NCIT_C191381 NCIT_R41 NCIT_C14262 @default.
- NCIT_C191381 NCIT_R41 NCIT_C14282 @default.
- NCIT_C191381 NCIT_R41 NCIT_C25796 @default.
- NCIT_C191381 NCIT_R41 NCIT_C79740 @default.
- NCIT_C191381 normalizedInformationContent "100" @default.
- NCIT_C191381 referenceCount "1" @default.
- NCIT_C191381 hasExactSynonym "APCA" @default.
- NCIT_C191381 hasExactSynonym "BI" @default.
- NCIT_C191381 hasExactSynonym "CACH4" @default.
- NCIT_C191381 hasExactSynonym "CACN3" @default.
- NCIT_C191381 hasExactSynonym "CACNA1A wt Allele" @default.
- NCIT_C191381 hasExactSynonym "CACNL1A4" @default.
- NCIT_C191381 hasExactSynonym "CAV2.1" @default.
- NCIT_C191381 hasExactSynonym "Calcium Channel, L Type, Alpha-1 Polypeptide Gene" @default.
- NCIT_C191381 hasExactSynonym "Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 Gene" @default.
- NCIT_C191381 hasExactSynonym "Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit Gene" @default.
- NCIT_C191381 hasExactSynonym "Calcium Channel, Voltage-Dependent, P/Q Type, Alpha-1A Subunit Gene" @default.
- NCIT_C191381 hasExactSynonym "Calcium Voltage-Gated Channel Subunit Alpha1 A wt Allele" @default.
- NCIT_C191381 hasExactSynonym "DEE42" @default.
- NCIT_C191381 hasExactSynonym "EA2" @default.
- NCIT_C191381 hasExactSynonym "EIEE42" @default.
- NCIT_C191381 hasExactSynonym "FHM" @default.
- NCIT_C191381 hasExactSynonym "Fetal Brain Ca2+ Voltage-Gated Channel Alpha1A Pore-Forming Subunit Gene" @default.
- NCIT_C191381 hasExactSynonym "HPCA" @default.
- NCIT_C191381 hasExactSynonym "MHP" @default.
- NCIT_C191381 hasExactSynonym "MHP1" @default.
- NCIT_C191381 hasExactSynonym "SCA6" @default.
- NCIT_C191381 type Class @default.
- NCIT_C191381 isDefinedBy ncit.owl @default.
- NCIT_C191381 label "CACNA1A wt Allele" @default.
- NCIT_C191381 subClassOf NCIT_C16612 @default.
- NCIT_C191381 subClassOf NCIT_C191380 @default.
- NCIT_C191381 subClassOf NCIT_C191381 @default.
- NCIT_C191381 subClassOf NCIT_C21295 @default.
- NCIT_C191381 subClassOf NCIT_C25869 @default.
- NCIT_C191381 subClassOf NCIT_C25993 @default.
- NCIT_C191381 subClassOf NCIT_C26039 @default.
- NCIT_C191381 subClassOf NCIT_C28533 @default.
- NCIT_C191381 equivalentClass B75b91bdf20962a36875435323150232b @default.
- NCIT_C191381 equivalentClass Bd69c4fc3e6c33dfb302e7eddbc672d1b @default.