Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Asp337Val (p.D337V)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Thr276Met (p.T276M) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 )
ARSA p.Asp337Val (p.D337V) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 )
ARSA p.Thr276Met (p.T276M) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Metachromatic Leukodystrophy, Infant
- Source Database
- DisGeNET
- Description
- Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
- Pubmed
- 8723680
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.123800186209124
- Year of publication
- 1996
Drugs