Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1205185774
rs1205185774
CUI: C0236642
Disease: Pick Disease of the Brain
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

dbSNP: rs1205185774
rs1205185774
CUI: C0002395
Disease: Alzheimer's 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

dbSNP: rs1205185774
rs1205185774
CUI: C0338451
Disease: Frontotemporal dementia
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

dbSNP: rs1205185774
rs1205185774
CUI: C0949664
Disease: Tauopathies
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

dbSNP: rs1463819761
rs1463819761
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Using an activity-impaired sPLA(2)-IIA mutant protein (H48Q), we show that up-regulation of TNF-dependent PGE(2) production and cyclooxygenase-2 (COX-2) induction by exogenous sPLA(2)-IIA in RA fibroblast-like synoviocytes (FLSs) is independent of its enzyme function. 21068383

2011

dbSNP: rs200120741
rs200120741
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.010 GeneticVariation BEFREE Human macrophages from two patients with Blau syndrome also showed a reduction of both cytokine production and phosphorylation of p38 in response to MDP, indicating that both R314Q mice and cells from patients with Blau syndrome show reduced responses to MDP. 25429073

2015