rs80356616, KCNJ11

N. diseases: 19
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
0.010 GeneticVariation BEFREE Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. 17047922 2006