Annotation Detail

Information
Associated Genes
HTRA2
Associated Variants
LOXL3 c.*908C>T, HTRA2 p.Gly399Ser (p.G399S) ( ENST00000258080.8, ENST00000352222.7, ENST00000437202.2, ENST00000696727.1, ENST00000264094.8, ENST00000409249.5 )
LOXL3 c.*908C>T, HTRA2 p.Gly399Ser (p.G399S) ( ENST00000258080.8, ENST00000352222.7, ENST00000437202.2, ENST00000696727.1, ENST00000264094.8, ENST00000409249.5 )
Associated Disease
Parkinson disease
Source Database
DisGeNET
Description
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.
Pubmed
25422467
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0187269461301309
Year of publication
2015
Drugs