Annotation Detail

Information
Associated Genes
FGFR1
Associated Variants
FGFR1 MUTATION
FGFR1 MUTATION
Associated Disease
hypogonadotropic hypogonadism
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,GAD
DisGENET score for the Gene Disease association
0.00671010193188688
Drugs