Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2016
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GeneticVariation disease BEFREE Antley-Bixler syndrome (ABS) represents a group of heterogeneous disorders characterized by skeletal, cardiac, and urogenital abnormalities that have frequently been associated with mutations in fibroblast growth factor receptor 2 or cytochrome P450 reductase genes. 21705796 2011
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GeneticVariation disease BEFREE Antley-Bixler syndrome with normal steroidogenesis is caused by autosomal dominant gain-of-function mutations in fibroblast growth factor receptor 2. 18259105 2008
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GeneticVariation disease BEFREE Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been attributed to fibroblast growth factor receptor 2 (FGFR2) mutations. 15793702 2005
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. 15996217 2005
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GeneticVariation disease UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 10406670 1999
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Not Antley-Bixler syndrome. 10076887 1999
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Patient described by Chun et al. may not present Antley-Bixler syndrome. 10076886 1999
Antley-Bixler Syndrome, Autosomal Dominant
0.740 Biomarker disease CTD_human FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. 9714439 1998
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GeneticVariation disease BEFREE FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. 9385368 1997
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Type 3 Pfeiffer syndrome with normal thumbs. 8958319 1996
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214 1996
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1995
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 7719345 1995
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615 1993
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GermlineCausalMutation disease ORPHANET