Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Leu300Ser (p.L300S)
(
ENST00000395621.7,
ENST00000453344.6,
ENST00000395619.3,
ENST00000216124.10,
ENST00000356098.9 )
ARSA p.Leu300Ser (p.L300S) ( ENST00000453344.6, ENST00000356098.9, ENST00000395619.3, ENST00000216124.10, ENST00000395621.7 ) - Associated Disease
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.
- Pubmed
- 9819708
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.514051056554323
- Year of publication
- 1998
Drugs