rs79184941, FGFR2

N. diseases: 41
Disease: Abnormality of the skull ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
0.020 GeneticVariation BEFREE Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development. 28650109 2017
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
0.020 GeneticVariation BEFREE A S252W mutation of fibroblast growth factor receptor 2 (FGFR2), which is responsible for nearly two-thirds of Apert syndrome (AS) cases, causes retarded development of the skeleton and skull malformation resulting from premature fusion of the craniofacial sutures. 24489893 2014