Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0745153
Disease: Hypoglycaemic episode
Hypoglycaemic episode
0.010 GeneticVariation disease BEFREE Genotyping of the index patient and his immediate family members showed that the patient and other family members with hypoglycemic episodes carried a heterozygous novel mutation in KCNJ11 (C83T), which encodes Kir6.2 (A28V). 29087246 2017