Annotation Detail
Information
- Associated Genes
- PAFAH1B1
- Associated Variants
-
PAFAH1B1 MUTATION
PAFAH1B1 MUTATION - Associated Disease
- Miller Dieker syndrome
- Source Database
- DisGeNET
- Description
- Fluorescence in situ hybridization using a commercially available LIS1 probe failed to detect a deletion, but chromosomal microarray analysis detected a 2.50-Mb microdeletion in 17p13.3 which involved partially the LIS1 gene, and thus was compatible with Miller-Dieker syndrome.
- Pubmed
- 23933666
- Section of the abstract supporting the evidence
- UNLABELLED
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,MGD,ORPHANET
- DisGENET score for the Gene Disease association
- 0.20868613990657
Drugs