Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Antley-Bixler Syndrome, Autosomal Dominant
0.740 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
Antley-Bixler Syndrome, Autosomal Dominant
0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 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 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
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 Biomarker disease GENOMICS_ENGLAND Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
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 GermlineCausalMutation disease ORPHANET Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Antley-Bixler Syndrome, Autosomal Dominant
0.740 Biomarker disease CTD_human We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. 9605588 1998
Antley-Bixler Syndrome, Autosomal Dominant
0.740 Biomarker disease GENOMICS_ENGLAND We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. 9605588 1998
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GermlineCausalMutation disease ORPHANET We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. 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 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Antley-Bixler Syndrome, Autosomal Dominant
0.740 CausalMutation disease CLINVAR
Antley-Bixler Syndrome, Autosomal Dominant
0.740 GeneticVariation disease CLINVAR