Annotation Detail
Information
- Associated Genes
- NRXN1
- Associated Variants
-
NRXN1 MUTATION
NRXN1 MUTATION - Associated Disease
- intellectual disability
- Source Database
- DisGeNET
- Description
- Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the important role of NRXN1 in autism and intellectual disability.
- Pubmed
- 25149956
- 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
- 11
- Original source reporting the Gene Disease association
- BeFree,CTD_human
- DisGENET score for the Gene Disease association
- 0.121628651232482
Drugs