Annotation Detail
Information
- Associated Genes
- GLE1
- Associated Variants
-
GLE1 MUTATION
GLE1 MUTATION - Associated Disease
- Akinesia
- Source Database
- DisGeNET
- Description
- Biallelic GLE1 and RYR1 disease-causing variants have been described in other cases with fetal akinesia syndrome.
- Pubmed
- 24961629
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 12
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs