Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome
0.320 GeneticVariation disease BEFREE A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. 28169396 2017
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome
0.320 GermlineCausalMutation disease ORPHANET Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome
0.320 GeneticVariation disease BEFREE Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009