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GENE - TERM ANNOTATION REPORT

RGD ID: 69098
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNJ11
Name: potassium inwardly rectifying channel subfamily J member 11
Acc ID: DOID:2018
Term: hyperinsulinism
Definition: A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
Definition Source(s): MESH:D006946
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)
KCNJ11 IAGP 1625277RGDprotein:substitution: :p.H259R (human) 
KCNJ11 TAS 1625279RGD  
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:25741868 PMID:26467025 PMID:26740944 PMID:28492532
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:20049716 PMID:20589481 PMID:20685672 PMID:24434300 PMID:25639667 PMID:25741868 PMID:28492532
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/RecessivePMID:15580558 PMID:15718250 PMID:25741868 PMID:26448950 PMID:28492532
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/RecessivePMID:15580558 PMID:15718250 PMID:18767144 PMID:22701567 PMID:24068186 PMID:26448950 PMID:26467025 PMID:28492532 PMID:32935446
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/RecessivePMID:15580558 PMID:15718250 PMID:22701567 PMID:26448950 PMID:32935446
KCNJ11 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/RecessivePMID:15580558 PMID:15718250 PMID:22701567 PMID:25741868 PMID:26448950 PMID:32935446
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive 
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:20980454 PMID:25741868 PMID:28938416
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinismPMID:25741868 PMID:32027066
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:25741868 PMID:27173951 PMID:27181376 PMID:28492532 PMID:33046911
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:12524280 PMID:15115830 PMID:15448106 PMID:15531505 PMID:15583126 PMID:15718250 PMID:15838686 PMID:16123337 PMID:16205880 PMID:16416420 PMID:16609879 PMID:16670688 PMID:16731837 PMID:16885550 PMID:17065345 PMID:17327377 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17901525 PMID:18414213 PMID:18662362 PMID:20220270 PMID:20301620 PMID:20466780 PMID:22768671 PMID:24622368 PMID:25308342 PMID:25741868 PMID:26467025 PMID:26839896 PMID:26958039 PMID:27681997 PMID:28480665 PMID:28492532 PMID:32893419 PMID:33987715
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/RecessivePMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22704848 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29893194 PMID:9867219
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:18596924 PMID:20032456 PMID:23700433
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:20022885 PMID:32027066
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/RecessivePMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinism, Dominant/RecessivePMID:15580558 PMID:15718250 PMID:18414213 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532
KCNJ11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperinsulinemiaPMID:14871556 PMID:15504982 PMID:16416420 PMID:17316607 PMID:18414213 PMID:22471336 PMID:24698822 PMID:25741868 PMID:25871929 PMID:26467025 PMID:28492532
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