rs747019990, PRNP

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.010 GeneticVariation BEFREE The PRNP P39L mutation may be an extremely rare cause of FTD (0.13%). 26757195 2016
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.010 GeneticVariation BEFREE PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population. 26757195 2016
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
0.010 GeneticVariation BEFREE We report a novel missense P39L mutation in the N-terminal domain of prion protein in 2 patients affected by frontotemporal lobar degeneration syndrome, negative for mutations in genes causative of dementia. 25022973 2014
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
0.010 GeneticVariation BEFREE We report a novel missense P39L mutation in the N-terminal domain of prion protein in 2 patients affected by frontotemporal lobar degeneration syndrome, negative for mutations in genes causative of dementia. 25022973 2014