rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
T
0.800
SusceptibilityMutation
CLINVAR
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
16757108
2006
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
15001591
2004
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
22927827
2012
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
16764984
2006
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
16606836
2006
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
26277103
2015
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
12627230
2003
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
21700882
2011
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.
15845591
2005
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
17154279
2007
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
25077900
2014
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
15605412
2005
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
16882753
2006
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
19820032
2009
rs121909635
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
23643382
2013