Annotation Detail
Information
- Associated Genes
- GLE1
- Associated Variants
-
GLE1 MUTATION
GLE1 MUTATION - Associated Disease
- Lethal Arthrogryposis With Anterior Horn Cell Disease
- Source Database
- DisGeNET
- Description
- Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are autosomal recessive fetal motor neuron diseases that are caused by mutations in another global RNA-processing protein, hGle1.
- Pubmed
- 25343993
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.480542883744161
Drugs