GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Disease: Dysphasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0973461
Disease: Dysphasia
Dysphasia 		0.110 GeneticVariation disease 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: C0973461
Disease: Dysphasia
Dysphasia 		0.110 Biomarker disease HPO