rs80356616, KCNJ11

N. diseases: 19
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental Delay, Epilepsy, and Neonatal Diabetes
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
0.010 GeneticVariation BEFREE This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China. 22145471 2011