rs137852660, FGF8

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
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
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
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
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
0.800 CausalMutation CLINVAR
VATER/VACTERL ASSOCIATION
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
0.010 GeneticVariation BEFREE We identified two heterozygous FGF8 mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER/VACTERL-like phenotype (p.Pro26Leu) without limb anomalies. 25131394 2014
Kallmann Syndrome
CUI: C0162809
Disease: Kallmann Syndrome
0.010 GeneticVariation BEFREE Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. 25131394 2014