Annotation Detail
Information
- Associated Genes
- HRAS
- Associated Variants
-
HRAS MUTATION
HRAS MUTATION - Associated Disease
- Costello syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Human iPSCs derived from patients with Costello syndrome differentiated to astroglia more rapidly in vitro than those derived from wild-type cell lines with normal HRAS, exhibited hyperplasia, and also generated an abundance of extracellular matrix remodeling factors and proteoglycans.
- Pubmed
- 25947161
- 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
- 4
- Original source reporting the Gene Disease association
- BeFree,CTD_human,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.454657861092336
Drugs