rs80356616, KCNJ11

N. diseases: 19
Disease: Diabetes ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE Nineteen children carrying KCNJ11 mutations associated with isolated diabetes (R201H; n = 8), diabetes with neurodevelopmental impairment (V59M or V59A [V59M/A]; n = 8), or diabetes not consistently associated with neurodevelopmental disability (Y330C, E322K, or R201C; n = 3) were studied using the age-standardized Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI). 22855734 2012
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE In contrast, developmental delay in addition to diabetes was seen in four of five probands with the V59M mutation and two of four with the R201C mutation. 16609879 2006