rs553119528, GRN

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary Progressive Nonfluent Aphasia
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
0.020 GeneticVariation BEFREE We recently reported a Spanish family with progressive non-fluent aphasia and dementia in which a novel C521Y mutation segregates with disease. 20028451 2010
Primary Progressive Nonfluent Aphasia
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
0.020 GeneticVariation BEFREE We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding. 19020205 2009
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.010 GeneticVariation BEFREE We recently reported a Spanish family with progressive non-fluent aphasia and dementia in which a novel C521Y mutation segregates with disease. 20028451 2010
Dementia
CUI: C0497327
Disease: Dementia
0.010 GeneticVariation BEFREE We recently reported a Spanish family with progressive non-fluent aphasia and dementia in which a novel C521Y mutation segregates with disease. 20028451 2010