Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Thr288Pro (p.T288P)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Thr288Pro (p.T288P) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- Adult-onset MLD: a gene mutation with isolated polyneuropathy.
- Pubmed
- 11061266
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.514051056554323
- Year of publication
- 2000
Drugs