| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. | 25271085 | 2015 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. | 24127277 | 2013 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | Clinical dividends from the molecular genetic diagnosis of craniosynostosis. | 16838304 | 2006 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. | 16158432 | 2005 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. | 8957519 | 1996 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. | 7558045 | 1995 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. | 7773284 | 1995 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. | 7987400 | 1994 | |||||
Cutis Gyrata Syndrome of Beare And Stevenson
|
0.700 | CausalMutation | CLINVAR | Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. | 7874170 | 1994 | |||||
Lacrimoauriculodentodigital syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
BENT BONE DYSPLASIA SYNDROME
|
0.700 | CausalMutation | CLINVAR | ||||||||
Apert syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
JACKSON-WEISS SYNDROME
|
0.700 | CausalMutation | CLINVAR | ||||||||
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
|
0.700 | CausalMutation | CLINVAR | ||||||||
Antley-Bixler Syndrome, Autosomal Dominant
|
0.700 | CausalMutation | CLINVAR | ||||||||
Stomach Neoplasms
|
0.700 | CausalMutation | CLINVAR | ||||||||
Craniofacial dysostosis type 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Saethre-Chotzen Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Craniosynostosis
|
0.700 | CausalMutation | CLINVAR | ||||||||
Pfeiffer Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
|
0.700 | CausalMutation | CLINVAR | ||||||||
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
|
0.700 | CausalMutation | CLINVAR | ||||||||
Axenfeld anomaly (disorder)
|
0.010 | GeneticVariation | BEFREE | A child with a different FGFR2 mutation (p.Ala344Ala, c1032 G --> A heterozygote), premature fusion of the sagittal suture, and an Axenfeld-Rieger anomaly but otherwise normal clinical course is reported. | 16158432 | 2005 |