rs63750959, MAPT

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Supranuclear Palsy, Progressive, 1
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
0.800 GeneticVariation UNIPROT
Supranuclear Palsy, Progressive, 1
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
0.800 CausalMutation CLINVAR
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.710 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.710 GeneticVariation BEFREE Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059 2002
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.010 GeneticVariation BEFREE Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia. 11921059 2002
Dementia
CUI: C0497327
Disease: Dementia
0.010 GeneticVariation BEFREE Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia. 11921059 2002
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.010 GeneticVariation BEFREE Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059 2002