HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767006508
rs767006508
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C4310650
Disease:
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.700 GeneticVariation UNIPROT Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117 2017
dbSNP: rs767006508
rs767006508
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C4310650
Disease:
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.700 GeneticVariation UNIPROT Deficiency of HTRA2Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. 27208207 2016
dbSNP: rs1380794702
rs1380794702
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C1853202
Disease:
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT
dbSNP: rs387906942
rs387906942
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C1853202
Disease:
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs72470545
rs72470545
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0030567
Disease:
Parkinson Disease 		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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0030567
Disease:
Parkinson Disease 		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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0030567
Disease:
Parkinson Disease 		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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0030567
Disease:
Parkinson Disease 		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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0030567
Disease:
Parkinson Disease 		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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0030567
Disease:
Parkinson Disease 		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: rs72470545
rs72470545
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0012236
Disease:
DiGeorge Syndrome 		0.020 GeneticVariation BEFREE Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease. 30034773 2018
dbSNP: rs72470545
rs72470545
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0012236
Disease:
DiGeorge Syndrome 		0.020 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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0270736
Disease:
Essential Tremor 		0.020 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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0393615
Disease:
Familial Tremor 		0.020 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
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0393615
Disease:
Familial Tremor 		0.020 GeneticVariation BEFREE Our results suggest that in some families, HTRA2 p.G399S is responsible for hereditary essential tremor and that homozygotes for this allele develop Parkinson disease. 25422467 2014
dbSNP: rs72470545
rs72470545
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0270736
Disease:
Essential Tremor 		0.020 GeneticVariation BEFREE Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. 25422467 2014
dbSNP: rs72470544
rs72470544
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		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
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		0.020 GeneticVariation BEFREE Moreover, we identified a novel A141S polymorphism that was associated with PD (P<0.05). 15961413 2005
dbSNP: rs72470545
rs72470545
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C3160718
Disease:
PARKINSON DISEASE, LATE-ONSET 		0.010 GeneticVariation BEFREE We previously identified the G399S HtrA2 mutation in Parkinson's disease (PD) patients and reported mitochondrial dysfunction in vitro. 26604148 2016
dbSNP: rs765943892
rs765943892
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		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
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		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
dbSNP: rs72470544
rs72470544
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 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: rs72470545
rs72470545
Entrez Id: 27429;84695
Gene Symbol: HTRA2;LOXL3
HTRA2;LOXL3
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 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