rs28931615, FGFR3

N. diseases: 13
Disease: Craniofacial Dysostosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
0.020 GeneticVariation BEFREE Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 31016899 2019
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
0.020 GeneticVariation BEFREE A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 8880573 1996