Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. 11380921

2001
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845

2000
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. 10574673

1999
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581

1998
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842

1997
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708

1996
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. 8956050

1996
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378

1995
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		T 0.700 CausalMutation CLINVAR