Disease: Channelopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.020 Biomarker disease BEFREE Our study suggests screening for dominant KCNJ6 mutations in the evaluation of patients with severe movement disorders, which could provide evidence to support a causal role of KCNJ6 in neurological channelopathies. 29852244 2018
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.020 Biomarker disease BEFREE Overall, these results establish KPLBS as a channelopathy and suggest that KCNJ6 (GIRK2) could also be a candidate gene for other lipodystrophies. 25620207 2015