Annotation Detail
Information
- Associated Genes
- PAFAH1B1
- Associated Variants
-
PAFAH1B1 MUTATION
PAFAH1B1 MUTATION - Associated Disease
- Classical Lissencephaly
- Source Database
- DisGeNET
- Description
- Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
- Pubmed
- 14581661
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.327328930546168
- Year of publication
- 2003
Drugs