rs79184941, FGFR2

N. diseases: 41
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
0.020 GeneticVariation BEFREE The molecular bases underlying differential Apert syndrome phenotypes are still poorly understood and it is unclear why cleft palate is more frequent in patients carrying the S252W mutation. 23519026 2013
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
0.020 GeneticVariation BEFREE Apert syndrome is a monogenic human disorder in which cleft palate has been significantly correlated to the fibroblast growth factor receptor (FGFR) 2-Ser252Trp mutation. 12019011 2002