Disease: Lipodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.020 GeneticVariation disease BEFREE Here, we describe a fourth case of a human with a de novo KCNJ6 (GIRK2) mutation, who presented with clinical findings of severe hyperkinetic movement disorder and developmental delay, similar to the Keppen-Lubinsky syndrome but without lipodystrophy. 29852244 2018
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		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