MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Pick Disease of the Brain ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751165
rs63751165
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.030 GeneticVariation BEFREE Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. 15615814 2005
dbSNP: rs63751165
rs63751165
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.030 GeneticVariation BEFREE S305N reported here can cause another phenotype closely resembling Pick's disease. 15178939 2004
dbSNP: rs63751165
rs63751165
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.030 GeneticVariation BEFREE We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene. 10208578 1999