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 CLINVAR
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 CausalMutation disease CLINVAR
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.400 Biomarker disease CTD_human Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. 17963255 2007
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease CTD_human Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. 17963255 2007
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.400 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.400 Biomarker disease HPO
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.400 GermlineCausalMutation disease ORPHANET
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.400 GeneticVariation disease CLINVAR
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 GeneticVariation group BEFREE Missense, nonsense, and splice mutations in the Fibroblast Growth Factor 8(FGF8) have recently been identified in patients with hypothalamo-pituitary dysfunction and craniofacial anomalies. 24280688 2014
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 Biomarker group CTD_human Fgf8 is required for anterior heart field development. 16720880 2006
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 Biomarker group BEFREE Since FGF8 maps to the same chromosomal region as FGFR2, has indeed been shown to be a ligand for FGFR2, and has an expression pattern consistent with limb and craniofacial anomalies, we have screened two kindreds with Pfeiffer syndrome that were previously linked to markers from 10q24-25 and a large number of individuals with craniosynostosis and limb anomalies for mutations in the coding sequence of FGF8. 9332670 1997
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.310 Biomarker disease CTD_human An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. 12223415 2002
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.310 GeneticVariation disease BEFREE An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. 12223415 2002
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.300 Biomarker disease CTD_human Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. 17963255 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.300 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.300 Biomarker group CTD_human Fgf8 is required for anterior heart field development. 16720880 2006
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.300 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.300 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.300 Biomarker disease MGD
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.300 Biomarker disease CTD_human
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		0.300 Biomarker disease CTD_human