Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
0.010 GeneticVariation BEFREE Our study further identified G338R FGFR2 mutation (c1012G > C) lead to inherited Crouzon syndrome. 29848297 2018