Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.810 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.810 | GeneticVariation | BEFREE | We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome. | 7581378 | 1995 |
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|
A | 0.800 | CausalMutation | CLINVAR | Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. | 7655462 | 1995 |
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|
C | 0.710 | CausalMutation | CLINVAR | Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. | 7655462 | 1995 |
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|
0.810 | GeneticVariation | UNIPROT | Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. | 7874170 | 1994 |
||||
|
0.800 | GeneticVariation | UNIPROT | Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. | 7874170 | 1994 |
||||
|
0.800 | GeneticVariation | UNIPROT | Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. | 7874170 | 1994 |
||||
|
0.800 | GeneticVariation | UNIPROT | Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. | 7874170 | 1994 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. | 7987400 | 1994 |
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|
C | 0.710 | CausalMutation | CLINVAR | Steroids in multiple sclerosis. | 7989400 | 1994 |
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|
0.810 | GeneticVariation | UNIPROT | Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. | 8528214 | 1995 |