Disease: Gerstmann-Straussler-Scheinker Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.030 GeneticVariation disease BEFREE We present the first case report of GSD type IXa in Northeast China caused by mutation of PHKA2. 31725618 2019
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.030 GeneticVariation disease BEFREE Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. 28627441 2017
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.030 GeneticVariation disease BEFREE The aim of this study was to evaluate the PHKA2 mutation spectrum in Korean patients with GSD type IX. 27103379 2016