Annotation Detail

Information
Associated Genes
FGFR1
Associated Variants
FGFR1 MUTATION
FGFR1 MUTATION
Associated Disease
hypogonadotropic hypogonadism
Source Database
DisGeNET
Description
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.
Pubmed
25501157
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