HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
Disease: Familial Tremor ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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