Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
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 | |||||
Craniofacial dysostosis type 1
|
0.800 | GeneticVariation | UNIPROT | Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. | 11380921 | 2001 | |||||
Craniofacial dysostosis type 1
|
0.800 | GeneticVariation | UNIPROT | Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). | 11173845 | 2000 | |||||
Craniofacial dysostosis type 1
|
0.800 | GeneticVariation | UNIPROT | A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. | 10574673 | 1999 | |||||
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 | |||||
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 | |||||
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 | |||||
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 | |||||
Craniofacial dysostosis type 1
|
0.800 | GeneticVariation | UNIPROT | Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. | 8956050 | 1996 | |||||
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 | |||||
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 | |||||
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 | |||||
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 | |||||
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 | |||||
Craniofacial dysostosis type 1
|
0.800 | GeneticVariation | UNIPROT | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. | 7987400 | 1994 | |||||
Craniofacial dysostosis type 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Apert syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | ||||||||
JACKSON-WEISS SYNDROME
|
0.700 | CausalMutation | CLINVAR | ||||||||
Stomach Neoplasms
|
0.700 | CausalMutation | CLINVAR | ||||||||
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lacrimoauriculodentodigital syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pfeiffer Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Saethre-Chotzen Syndrome
|
0.700 | CausalMutation | CLINVAR |