FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Kallmann Syndrome 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827 2012
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 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
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. 19820032 2009
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 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
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984 2006
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 16882753 2006
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 16606836 2006
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). 16757108 2006
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 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
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 15605412 2005
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 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
dbSNP: rs765615419
rs765615419
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003