FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 GeneticVariation disease BEFREE Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly. 29584859 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 Biomarker disease GENOMICS_ENGLAND Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 AlteredExpression disease BEFREE Finally, to analyze the mechanisms of holoprosencephaly observed in the case described here, we include a concise review on the current understanding of how FGFs and their receptors are expressed in the rostral signaling center (particularly Fgf8). 21204232 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 GeneticVariation disease BEFREE The objective of this study was to screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). 21832120 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 Biomarker disease BEFREE In our study we prospectively analyzed a small cohort of 10 patients in whom we identified mutations in SHH, SIX3, ZIC2, or FGF8, the latter of which is a very recently described HPE-associated gene. 21976454 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 GeneticVariation disease BEFREE Frank holoprosencephaly was present in 11 individuals with deletions of one of the common HPE genes SHH, ZIC2, SIX3, and TGIF1, in one individual with a deletion of the HPE8 locus at 14q13, and in one individual with a deletion of FGF8, whereas deletions of other HPE loci and candidate genes (FOXA2 and LRP2) expressed microforms of HPE. 20066439 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 GeneticVariation disease CLINVAR
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.450 CausalMutation disease CLINVAR