Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. 15190072

2004

dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002

dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. 11390973

2001

dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome. 9452027

1998

dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998

dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals. 9002682

1997

dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995

dbSNP: rs77543610
rs77543610
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
0.900 GeneticVariation UNIPROT We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344

1995