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: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		A 0.800 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909635
rs121909635
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909637
rs121909637
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909640
rs121909640
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909641
rs121909641
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909644
rs121909644
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909645
rs121909645
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909635
rs121909635
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909637
rs121909637
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909640
rs121909640
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909641
rs121909641
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909644
rs121909644
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909645
rs121909645
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909635
rs121909635
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909637
rs121909637
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909640
rs121909640
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909641
rs121909641
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909644
rs121909644
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs121909645
rs121909645
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
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