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GENE - TERM ANNOTATION REPORT

RGD ID: 731555
Species: Mus musculus
RGD Object: Gene
Symbol: Gck
Name: glucokinase
Acc ID: DOID:0070216
Term: familial hyperinsulinemic hypoglycemia 3
Definition: A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11916951 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9435328 "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)
Gck ISOGCK (Homo sapiens)7240710OMIM  
Gck ISOGCK (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gck ISOGCK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiencyPMID:10447526 PMID:10455021 PMID:10525657 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11553210 PMID:11916951 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:14687251 PMID:1502186 PMID:15277402 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:15987895 PMID:16963153 PMID:16965331 PMID:17082186 PMID:17353190 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18271687 PMID:19146401 PMID:19790256 PMID:20132997 PMID:20301620 PMID:20375417 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:22060211 PMID:22194744 PMID:22335469 PMID:22493702 PMID:22611063 PMID:23771925 PMID:24097065 PMID:24323243 PMID:24518839 PMID:24578721 PMID:24728127 PMID:24735133 PMID:25015100 PMID:2555564 PMID:25741868 PMID:25850297 PMID:26467025 PMID:27269892 PMID:27913849 PMID:28492532 PMID:29056535 PMID:29510678 PMID:30257192 PMID:31094068 PMID:31197960 PMID:31291970 PMID:31638168 PMID:31957151 PMID:32375122 PMID:32533152 PMID:32792356 PMID:33072637 PMID:33129248 PMID:33852230 PMID:34686905 PMID:34746319 PMID:35472491 PMID:36257325 PMID:37008541 PMID:7553875 PMID:7555485 PMID:8068341 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8495817 PMID:9049484 PMID:9435328 PMID:9469993 PMID:9536098 PMID:9867845
Gck IAGP 13592920MouseDOOMIM:602485 
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