Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.010 GeneticVariation BEFREE Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. 16526917 2006