Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE The P301S mutation linked to frontotemporal dementia causes tau aggregation and rapidly progressing motor deficits. 29051562

2017
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE Disinhibition-like behavior in a P301S mutant tau transgenic mouse model of frontotemporal dementia. 27521751

2016
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE To investigate the occurrence of neuroinflammatory changes in the brain of a patient affected by FTDP-17T associated with the P301S mutation and showing a frontotemporal dementia phenotype as well as in the brain of a patient affected by another FTDP-17T phenotype: multiple system tauopathy with presenile dementia. 21212632

2011
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans. 18490011

2008
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE Here we show that (trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene (FSB), a fluorescent Congo red derivative, labels tau inclusions in tissue sections from a mouse line transgenic for human P301S tau and in cases of familial frontotemporal dementia and sporadic Pick's disease. 18291106

2008
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. 17318302

2007
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837

2003
dbSNP: rs63751438
rs63751438
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 GeneticVariation BEFREE Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 10374757

1999