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- NCIT_C188896 IAO_0000115 "Human LIPA wild-type allele is located in the vicinity of 10q23.31 and is approximately 201 kb in length. This allele, which encodes lysosomal acid lipase/cholesteryl ester hydrolase protein, plays a role in the lysosomal metabolism of low density lipoproteins. Loss of function gene mutations are associated with cholesteryl ester storage disease and Wolman disease." @default.
- NCIT_C188896 NCIT_NHC0 "C188896" @default.
- NCIT_C188896 NCIT_P100 "613497" @default.
- NCIT_C188896 NCIT_P102 "M74775" @default.
- NCIT_C188896 NCIT_P106 "Gene or Genome" @default.
- NCIT_C188896 NCIT_P108 "LIPA wt Allele" @default.
- NCIT_C188896 NCIT_P208 "CL1794049" @default.
- NCIT_C188896 NCIT_P321 "3988" @default.
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- NCIT_C188896 normalizedInformationContent "100" @default.
- NCIT_C188896 referenceCount "1" @default.
- NCIT_C188896 hasExactSynonym "CESD" @default.
- NCIT_C188896 hasExactSynonym "LAL" @default.
- NCIT_C188896 hasExactSynonym "LIPA wt Allele" @default.
- NCIT_C188896 hasExactSynonym "Lipase A, Lysosomal Acid Gene" @default.
- NCIT_C188896 hasExactSynonym "Lipase A, Lysosomal Acid Type wt Allele" @default.
- NCIT_C188896 hasExactSynonym "Lipase A, Lysosomal Acid, Cholesterol Esterase Gene" @default.
- NCIT_C188896 hasExactSynonym "Wolman Disease Gene" @default.
- NCIT_C188896 type Class @default.
- NCIT_C188896 isDefinedBy ncit.owl @default.
- NCIT_C188896 label "LIPA wt Allele" @default.
- NCIT_C188896 subClassOf NCIT_C16612 @default.
- NCIT_C188896 subClassOf NCIT_C188895 @default.
- NCIT_C188896 subClassOf NCIT_C188896 @default.
- NCIT_C188896 subClassOf NCIT_C21281 @default.
- NCIT_C188896 subClassOf NCIT_C25804 @default.
- NCIT_C188896 subClassOf NCIT_C25952 @default.
- NCIT_C188896 equivalentClass B0742d123056fadf9da8a002a288e42fb @default.
- NCIT_C188896 equivalentClass Bce912f1e5f80fde1c4df045176b4b9ea @default.