rs121918494, FGFR2

N. diseases: 25
Disease: Apert syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 CausalMutation CLINVAR Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237 2017
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170 1994