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 CausalMutation disease CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.740 GeneticVariation disease CLINVAR
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 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 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 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 UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
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
Entrez Id: 5447
Gene Symbol: POR
POR 		0.350 Biomarker disease CTD_human Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion. 14758361 2004
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: 5447
Gene Symbol: POR
POR 		0.350 Biomarker disease CTD_human Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. 15220035 2004
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: 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: 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: 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 Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 5447
Gene Symbol: POR
POR 		0.350 Biomarker disease CTD_human Mutations in POR (P450 (cytochrome) oxidoreductase, an essential electron donor to enzymes participating in cholesterol biosynthesis), have been identified in some patients with the ABS phenotype. 16906539 2006
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: 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: 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 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: 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