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
- Familial Tremor
- Source Database
- DisGeNET
- Description
- 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.
- Pubmed
- 25422467
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs