Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.010 GeneticVariation disease BEFREE Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. 18455494 2008
Entrez Id: 1544
Gene Symbol: CYP1A2
CYP1A2
0.010 Biomarker disease BEFREE Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. 18455494 2008
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
0.060 GeneticVariation disease BEFREE Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. 18455494 2008
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
0.060 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
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
0.060 Biomarker disease BEFREE Individuals with an Antley-Bixler syndrome-like phenotype presenting with sexual ambiguity or other abnormalities in steroidogenesis should be analyzed for P450 oxidoreductase deficiency. 16915000 2006
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
0.060 GeneticVariation disease BEFREE Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 14758361 2004
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
0.060 GeneticVariation disease BEFREE Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. 20124576 2010
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
0.060 GeneticVariation disease BEFREE Patients with adrenal insufficiency, genital anomalies and bony malformations resembling the Antley- Bixler syndrome (a craniosynostosis syndrome), are likely to have P450 oxidoreductase (POR) deficiency. 18493134 2008
Entrez Id: 1595
Gene Symbol: CYP51A1
CYP51A1
0.020 Biomarker disease BEFREE The knockout of cholesterogenic Cyp51 is embrionally lethal, with symptoms of Antley-Bixler syndrome occurring in mice, whereas the evidence for this association is conflicting in humans. 22111624 2012
Entrez Id: 1595
Gene Symbol: CYP51A1
CYP51A1
0.020 Biomarker disease BEFREE Fungal CYP51 inhibitor azoles are teratogenic in humans, potentially leading to symptoms of Antley-Bixler syndrome. 21247357 2011
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
0.010 Biomarker disease BEFREE Numerous mutations/polymorphisms of the POR gene, encoding NADPH:cytochrome P450 oxidoreductase (CYPOR), have been described in patients with Antley-Bixler syndrome (ABS), presenting with craniofacial dysmorphogenesis, and/or disordered steroidogenesis, exhibiting ambiguous genitalia. 16998238 2006
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
0.010 GeneticVariation disease BEFREE Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. 18455494 2008
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.740 GeneticVariation disease UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.740 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.740 CausalMutation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.740 Biomarker disease GENOMICS_ENGLAND Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.740 GeneticVariation disease BEFREE FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.740 GermlineCausalMutation disease ORPHANET Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000