FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency. 24280688 2014
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations. 24569166 2014
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228 2013
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. 20463092 2010
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 CausalMutation disease CLINVAR