GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Disease: Apraxias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003635
Disease: Apraxias
Apraxias 		0.120 GeneticVariation group BEFREE We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the age of 60 and a very severe FTLD neuropathological phenotype with TDP43 inclusions. 27767988 2017
CUI: C0003635
Disease: Apraxias
Apraxias 		0.120 GeneticVariation group BEFREE The clinical phenotype of PGRN mutation carriers was particular because of the wide range in onset age and the frequent occurrence of early apraxia (50%), visual hallucinations (30%), and parkinsonism (30%) during the course of the disease. 17436289 2007
CUI: C0003635
Disease: Apraxias
Apraxias 		0.120 Biomarker group HPO