Gene: HTRA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
0.060 GeneticVariation BEFREE Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease. 30034773

2018
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
0.060 GeneticVariation BEFREE Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease". 30271531

2018
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
0.060 GeneticVariation BEFREE 's study found that <i>HTRA2</i> p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease. 28243480

2017
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
0.060 GeneticVariation BEFREE We previously identified the G399S HtrA2 mutation in Parkinson's disease (PD) patients and reported mitochondrial dysfunction in vitro. 26604148

2016
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
0.060 GeneticVariation BEFREE HTRA2 p.G399S was previously shown to lead to mitochondrial dysfunction, altered mitochondrial morphology, and decreased protease activity, but epidemiologic studies of an association between HTRA2 and Parkinson disease yielded conflicting results. 25422467

2014
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
0.060 GeneticVariation BEFREE In addition, we analyzed the occurrence of the OMI/HTRA2 variants A141S and G399S in Swedish case-control materials for AD and PD and found a weak association of A141S with AD, but not with PD. 21163861

2011
dbSNP: rs72470544
rs72470544
AUP1 ; HTRA2
0.020 GeneticVariation BEFREE In addition, we analyzed the occurrence of the OMI/HTRA2 variants A141S and G399S in Swedish case-control materials for AD and PD and found a weak association of A141S with AD, but not with PD. 21163861

2011
dbSNP: rs72470544
rs72470544
AUP1 ; HTRA2
0.020 GeneticVariation BEFREE Moreover, we identified a novel A141S polymorphism that was associated with PD (P<0.05). 15961413

2005
dbSNP: rs765943892
rs765943892
AUP1 ; HTRA2
0.010 GeneticVariation BEFREE Although the functional assays are promising, a larger cohort of both cases and controls should be screened to clarify the role of R36W in Taiwanese PD pathogenicity. 24337630

2014
dbSNP: rs387906942
rs387906942
AUP1 ; HTRA2
0.010 GeneticVariation BEFREE Further large-scale association studies are warranted to confirm the role of HTRA2 Pro143Ala variant in the risk of PD. 21701785

2011