Annotation Detail
Information
- Associated Genes
- FGFR1
- Associated Variants
-
FGFR1 MUTATION
FGFR1 MUTATION - Associated Disease
- Klinefelter syndrome
- Source Database
- DisGeNET
- Description
- Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
- Pubmed
- 26277103
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
Drugs