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- NCIT_C191812 IAO_0000115 "Human ABCA12 wild-type allele is located in the vicinity of 2q35 and is approximately 207 kb in length. This allele, which encodes glucosylceramide transporter ABCA12 protein, plays a role in both the membrane localization of glucosylceramide and other lipids in lamellar granules and in cholesterol transport. Mutation of the gene is associated with autosomal recessive congenital ichthyosis (ARCI) types 4A and 4B (harlequin)." @default.
- NCIT_C191812 NCIT_NHC0 "C191812" @default.
- NCIT_C191812 NCIT_P100 "607800" @default.
- NCIT_C191812 NCIT_P102 "AF418105" @default.
- NCIT_C191812 NCIT_P106 "Gene or Genome" @default.
- NCIT_C191812 NCIT_P108 "ABCA12 wt Allele" @default.
- NCIT_C191812 NCIT_P208 "CL1905165" @default.
- NCIT_C191812 NCIT_P321 "26154" @default.
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- NCIT_C191812 NCIT_R37 NCIT_C20480 @default.
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- NCIT_C191812 NCIT_R37 NCIT_C29885 @default.
- NCIT_C191812 NCIT_R40 NCIT_C12219 @default.
- NCIT_C191812 NCIT_R40 NCIT_C13282 @default.
- NCIT_C191812 NCIT_R40 NCIT_C13377 @default.
- NCIT_C191812 NCIT_R40 NCIT_C13432 @default.
- NCIT_C191812 NCIT_R40 NCIT_C13446 @default.
- NCIT_C191812 NCIT_R40 NCIT_C13763 @default.
- NCIT_C191812 NCIT_R40 NCIT_C14135 @default.
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- NCIT_C191812 NCIT_R40 NCIT_C34070 @default.
- NCIT_C191812 NCIT_R41 NCIT_C14182 @default.
- NCIT_C191812 NCIT_R41 NCIT_C14225 @default.
- NCIT_C191812 NCIT_R41 NCIT_C14234 @default.
- NCIT_C191812 NCIT_R41 NCIT_C14250 @default.
- NCIT_C191812 NCIT_R41 NCIT_C14262 @default.
- NCIT_C191812 NCIT_R41 NCIT_C14282 @default.
- NCIT_C191812 NCIT_R41 NCIT_C25796 @default.
- NCIT_C191812 NCIT_R41 NCIT_C79740 @default.
- NCIT_C191812 normalizedInformationContent "100" @default.
- NCIT_C191812 referenceCount "1" @default.
- NCIT_C191812 hasExactSynonym "ABC12" @default.
- NCIT_C191812 hasExactSynonym "ABCA12 wt Allele" @default.
- NCIT_C191812 hasExactSynonym "ARCI4A" @default.
- NCIT_C191812 hasExactSynonym "ARCI4B" @default.
- NCIT_C191812 hasExactSynonym "ATP Binding Cassette Subfamily A Member 12 wt Allele" @default.
- NCIT_C191812 hasExactSynonym "ATP-Binding Cassette, Sub-Family A (ABC1), Member 12 Gene" @default.
- NCIT_C191812 hasExactSynonym "ATP-Binding Cassette, Subfamily A, Member 12 Gene" @default.
- NCIT_C191812 hasExactSynonym "DKFZP434G232" @default.
- NCIT_C191812 hasExactSynonym "ICR2B" @default.
- NCIT_C191812 hasExactSynonym "Ichthyosis Congenita II, Lamellar Ichthyosis B Gene" @default.
- NCIT_C191812 hasExactSynonym "LI2" @default.
- NCIT_C191812 type Class @default.
- NCIT_C191812 isDefinedBy ncit.owl @default.
- NCIT_C191812 label "ABCA12 wt Allele" @default.
- NCIT_C191812 subClassOf NCIT_C158414 @default.
- NCIT_C191812 subClassOf NCIT_C16612 @default.
- NCIT_C191812 subClassOf NCIT_C191811 @default.
- NCIT_C191812 subClassOf NCIT_C191812 @default.
- NCIT_C191812 subClassOf NCIT_C21281 @default.
- NCIT_C191812 subClassOf NCIT_C21295 @default.
- NCIT_C191812 subClassOf NCIT_C28533 @default.
- NCIT_C191812 equivalentClass B561fd70e9ca962a34216429e0bd0395c @default.
- NCIT_C191812 equivalentClass B64579bc88c364ca248e204dce86845e2 @default.