Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 MUTATION
FGFR3 MUTATION - Associated Disease
- achondroplasia
- Source Database
- DisGeNET
- Description
- Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal dominant mutation in the fibroblast growth factor receptor-3 gene.
- Pubmed
- 25650377
- 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,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.621035659391194
Drugs