FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852659
rs137852659
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs137852660
rs137852660
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs137852661
rs137852661
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs137852662
rs137852662
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs137852663
rs137852663
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs137852659
rs137852659
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
dbSNP: rs137852660
rs137852660
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
dbSNP: rs137852661
rs137852661
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
dbSNP: rs137852662
rs137852662
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
dbSNP: rs137852663
rs137852663
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
dbSNP: rs137852659
rs137852659
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852660
rs137852660
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137852661
rs137852661
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137852662
rs137852662
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852663
rs137852663
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852663
rs137852663
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs2735421
rs2735421
Entrez Id: 2253;10360
Gene Symbol: FGF8;NPM3
FGF8;NPM3
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs2735421
rs2735421
Entrez Id: 2253;10360
Gene Symbol: FGF8;NPM3
FGF8;NPM3
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs2735421
rs2735421
Entrez Id: 2253;10360
Gene Symbol: FGF8;NPM3
FGF8;NPM3
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs137852664
rs137852664
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs606231407
rs606231407
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C0342384
Disease:
Idiopathic hypogonadotropic hypogonadism 		T 0.700 GeneticVariation CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228 2013
dbSNP: rs606231407
rs606231407
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C2364082
Disease:
Sense of smell impaired 		T 0.700 GeneticVariation CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228 2013
dbSNP: rs606231408
rs606231408
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		C 0.700 GeneticVariation CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228 2013
dbSNP: rs137852664
rs137852664
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C3552574
Disease:
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
dbSNP: rs139565972
rs139565972
Entrez Id: 2253;105378457
Gene Symbol: FGF8;LOC105378457
FGF8;LOC105378457
CUI: C0079541
Disease:
Holoprosencephaly 		A 0.700 GeneticVariation CLINVAR