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- NCIT_C191884 IAO_0000115 "Human ABCC8 wild-type allele is located in the vicinity of 11p15.1 and is approximately 84 kb in length. This allele, which encodes ATP-binding cassette sub-family C member 8 protein, plays a role in the modulation of ATP-sensitive potassium channel activity and insulin release. Mutation of the gene is associated with leucine-sensitive hypoglycemia of infancy, familial hyperinsulinemic hypoglycemia 1, noninsulin-dependent diabetes mellitus, transient neonatal diabetes mellitus 2 and permanent neonatal diabetes mellitus 3, with or without neurologic features." @default.
- NCIT_C191884 NCIT_NHC0 "C191884" @default.
- NCIT_C191884 NCIT_P100 "603214" @default.
- NCIT_C191884 NCIT_P102 "AF009746" @default.
- NCIT_C191884 NCIT_P106 "Gene or Genome" @default.
- NCIT_C191884 NCIT_P108 "ABCC8 wt Allele" @default.
- NCIT_C191884 NCIT_P208 "CL1905127" @default.
- NCIT_C191884 NCIT_P321 "6833" @default.
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- NCIT_C191884 NCIT_R40 NCIT_C13282 @default.
- NCIT_C191884 NCIT_R40 NCIT_C13377 @default.
- NCIT_C191884 NCIT_R40 NCIT_C13432 @default.
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- NCIT_C191884 NCIT_R40 NCIT_C14135 @default.
- NCIT_C191884 NCIT_R40 NCIT_C26296 @default.
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- NCIT_C191884 NCIT_R40 NCIT_C34070 @default.
- NCIT_C191884 NCIT_R41 NCIT_C14182 @default.
- NCIT_C191884 NCIT_R41 NCIT_C14225 @default.
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- NCIT_C191884 NCIT_R41 NCIT_C14262 @default.
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- NCIT_C191884 NCIT_R41 NCIT_C25796 @default.
- NCIT_C191884 NCIT_R41 NCIT_C79740 @default.
- NCIT_C191884 normalizedInformationContent "100" @default.
- NCIT_C191884 referenceCount "1" @default.
- NCIT_C191884 hasExactSynonym "ABC36" @default.
- NCIT_C191884 hasExactSynonym "ABCC8 wt Allele" @default.
- NCIT_C191884 hasExactSynonym "ATP Binding Cassette Subfamily C Member 8 wt Allele" @default.
- NCIT_C191884 hasExactSynonym "ATP-Binding Cassette Transporter Sub-Family C Member 8 Gene" @default.
- NCIT_C191884 hasExactSynonym "ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8 Gene" @default.
- NCIT_C191884 hasExactSynonym "ATP-Binding Cassette, Subfamily C, Member 8 Gene" @default.
- NCIT_C191884 hasExactSynonym "HHF1" @default.
- NCIT_C191884 hasExactSynonym "HI" @default.
- NCIT_C191884 hasExactSynonym "HRINS" @default.
- NCIT_C191884 hasExactSynonym "MRP8" @default.
- NCIT_C191884 hasExactSynonym "PHHI" @default.
- NCIT_C191884 hasExactSynonym "PNDM3" @default.
- NCIT_C191884 hasExactSynonym "SUR" @default.
- NCIT_C191884 hasExactSynonym "SUR1" @default.
- NCIT_C191884 hasExactSynonym "SUR1delta2" @default.
- NCIT_C191884 hasExactSynonym "Sulfonylurea Receptor (Hyperinsulinemia) Gene" @default.
- NCIT_C191884 hasExactSynonym "Sulfonylurea Receptor, Beta Cell High Affinity Gene" @default.
- NCIT_C191884 hasExactSynonym "TNDM2" @default.
- NCIT_C191884 type Class @default.
- NCIT_C191884 isDefinedBy ncit.owl @default.
- NCIT_C191884 label "ABCC8 wt Allele" @default.
- NCIT_C191884 subClassOf NCIT_C16612 @default.
- NCIT_C191884 subClassOf NCIT_C191883 @default.
- NCIT_C191884 subClassOf NCIT_C191884 @default.
- NCIT_C191884 subClassOf NCIT_C21295 @default.
- NCIT_C191884 subClassOf NCIT_C28533 @default.
- NCIT_C191884 equivalentClass B038547b0f83fdcdd4eae4237291aad66 @default.
- NCIT_C191884 equivalentClass Bbaed963a6180d3e8fa4caf09bb07b6a3 @default.