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GENE - TERM ANNOTATION REPORT

RGD ID: 8921689
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Abcc8
Name: ATP binding cassette subfamily C member 8
Acc ID: DOID:0112262
Term: leucine-sensitive hypoglycemia of infancy
Definition: An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/15356046/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Abcc8 ISOABCC8 (Homo sapiens)7240710OMIM  
Abcc8 ISOABCC8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancyPMID:10204114 PMID:10426386 PMID:10685980 PMID:10857971 PMID:11867634 PMID:14692646 PMID:14715863 PMID:15356046 PMID:15466080 PMID:15562009 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16882742 PMID:16885549 PMID:17236890 PMID:17378627 PMID:17466004 PMID:17539904 PMID:17823772 PMID:18025408 PMID:18414213 PMID:18596924 PMID:18796520 PMID:18981553 PMID:19475716 PMID:19766903 PMID:20427569 PMID:20685672 PMID:20799350 PMID:20849526 PMID:21142918 PMID:21378087 PMID:21536946 PMID:21674179 PMID:21814221 PMID:21989597 PMID:22151254 PMID:22210575 PMID:22533711 PMID:23067144 PMID:23275527 PMID:23345197 PMID:23563683 PMID:24401662 PMID:24434300 PMID:25008049 PMID:25117148 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27908292 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29751826 PMID:30098243 PMID:30297969 PMID:30447144 PMID:30515958 PMID:30977832 PMID:31110826 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32928245 PMID:33046911 PMID:33400071 PMID:34171966 PMID:34194474 PMID:34426522 PMID:34462253 PMID:34777243 PMID:36339418 PMID:7908292 PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840
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