Annotation Detail
Information
- Associated Genes
- TRPS1
- Associated Variants
-
TRPS1 MUTATION
TRPS1 MUTATION - Associated Disease
- Cornelia de Lange syndrome 4
- Source Database
- DisGeNET
- Description
- Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4.
- Pubmed
- 25899858
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs