rs1057519043, FGFR2

N. diseases: 4
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 GeneticVariation CLINVAR Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. 29037998 2018
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 GeneticVariation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 GeneticVariation CLINVAR Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378 1995