Annotation Detail
Information
- Associated Genes
- SFTPA2
- Associated Variants
-
SFTPA2 MUTATION
SFTPA2 MUTATION - Associated Disease
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
- Pubmed
- 24478108
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs