FGF9, fibroblast growth factor 9, 2254

N. diseases: 153; N. variants: 2
Disease: Multiple Synostoses Syndrome 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 GeneticVariation disease BEFREE Only one FGF9 mutation has been previously reported in a multigeneration family with multiple synostoses (SYNS3) but no signs of craniosynostosis. 28730625 2017
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease MGD Here, we report that mice harboring the S99N mutation in Fgf9 develop the curly tail phenotype and partially or fully fused caudal vertebrae and limb joints, which mimic the major phenotypes of SYNS3 patients. 28169396 2017
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 GeneticVariation disease BEFREE Here, we report that mice harboring the S99N mutation in Fgf9 develop the curly tail phenotype and partially or fully fused caudal vertebrae and limb joints, which mimic the major phenotypes of SYNS3 patients. 28169396 2017
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 GeneticVariation disease UNIPROT Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease GENOMICS_ENGLAND Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease GENOMICS_ENGLAND Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 Biomarker disease CTD_human
CUI: C2751826
Disease: Multiple Synostoses Syndrome 3
Multiple Synostoses Syndrome 3 		0.920 CausalMutation disease CLINVAR