Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 GeneticVariation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		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
Entrez Id: 5447
Gene Symbol: POR
POR 		0.350 GeneticVariation disease BEFREE Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. 15483095 2005
Entrez Id: 5447
Gene Symbol: POR
POR 		0.350 GeneticVariation disease BEFREE Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome that can be accompanied by disordered steroidogenesis, and is mainly caused by mutations in the POR gene, inherited in an autosomal recessive manner. 26969897 2016
Entrez Id: 5447
Gene Symbol: POR
POR 		0.350 GeneticVariation disease BEFREE Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. 18455494 2008
Entrez Id: 5447
Gene Symbol: POR
POR 		0.350 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: 5447
Gene Symbol: POR
POR 		0.350 GeneticVariation disease BEFREE 46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. 23295302 2012
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 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: 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: 5663
Gene Symbol: PSEN1
PSEN1 		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: 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 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 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