| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.030 | GeneticVariation | BEFREE | Here, we report a novel mutation in exon 8 (IIIc) of FGFR3, p.Ala334Thr, in a young boy with mild craniosynostosis. | 22038757 | 2011 |
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|
0.030 | GeneticVariation | BEFREE | A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. | 12357470 | 2002 |
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|
0.030 | GeneticVariation | BEFREE | A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? | 10951518 | 2000 |
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|
0.020 | GeneticVariation | BEFREE | A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. | 12357470 | 2002 |
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|
0.020 | GeneticVariation | BEFREE | Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). | 10942429 | 2000 |
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|
0.020 | GeneticVariation | BEFREE | A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? | 10951518 | 2000 |
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|
0.020 | GeneticVariation | BEFREE | Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. | 9279753 | 1997 |
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|
0.010 | GeneticVariation | BEFREE | The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. | 22038757 | 2011 |