Annotation Detail
Information
- Associated Genes
- TRPS1
- Associated Variants
-
TRPS1 MUTATION
TRPS1 MUTATION - Associated Disease
- Langer-Giedion syndrome
- Source Database
- DisGeNET
- Description
- In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene.
- Pubmed
- 25899858
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.242171534976642
Drugs