Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
G | 0.800 | CausalMutation | CLINVAR | Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. | 26380986 | 2015 |
|||||||
|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.750 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.750 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.710 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Muenke syndrome: An international multicenter natural history study. | 26740388 | 2016 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Executive Function and Adaptive Behavior in Muenke Syndrome. | 26028288 | 2015 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. | 25931420 | 2015 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. | 25614871 | 2014 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. | 25614871 | 2014 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. | 24864036 | 2014 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. | 23740942 | 2013 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. | 23378035 | 2013 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Growth and development in thanatophoric dysplasia - an update 25 years later. | 25356217 | 2013 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Evolution and functional impact of rare coding variation from deep sequencing of human exomes. | 22604720 | 2012 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. | 23165795 | 2012 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. | 22045636 | 2012 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. | 23165795 | 2012 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. | 23149434 | 2012 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. | 23165795 | 2012 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Brain and bone abnormalities of thanatophoric dwarfism. | 19098178 | 2009 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Significant phenotypic variability of Muenke syndrome in identical twins. | 19449410 | 2009 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Achondroplasia: from genotype to phenotype. | 17950653 | 2008 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | Achondroplasia. | 18328977 | 2008 |
|||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. | 18344207 | 2008 |