rs1205185774, AHSA1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.010 GeneticVariation BEFREE Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype. 14757934 2003
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P</span>310L mutation as in AD and other tauopathies. 14757934 2003
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.010 GeneticVariation BEFREE Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype. 14757934 2003
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.010 GeneticVariation BEFREE These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies. 14757934 2003