rs80356624, KCNJ11

N. diseases: 16
Disease: Diabetes Mellitus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
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 Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE All 11 probands with the most common mutation, R201H, had isolated diabetes. 16609879 2006