Antley-bixler syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ANTLEY-BIXLER SYNDROME	C5234850 MONDO:0008803	FGFR2	Unknown	9605588 10633130	Disgenet, GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
ANTLEY-BIXLER SYNDROME	C5234850 MONDO:0008803	POR	Unknown	15483095	Disgenet, GWAS catalog	Cytochrome P450 - arranged by substrate type
ANTLEY-BIXLER SYNDROME PHENOTYPE	MESH:D054882	FGFR2	Unknown	9605588	CTD	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
ANTLEY-BIXLER SYNDROME PHENOTYPE	MESH:D054882	POR	Unknown	14758361 15220035 16906539 27496950	CTD	Cytochrome P450 - arranged by substrate type
ANTLEY-BIXLER SYNDROME WITH DISORDERED STEROIDOGENESIS	C1860042	POR	Unknown	—	Disgenet	Cytochrome P450 - arranged by substrate type
ANTLEY-BIXLER SYNDROME WITH DISORDERED STEROIDOGENESIS	C1860042	TMEM120A	Unknown	—	Disgenet	—
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	201750 C3150099 MONDO:0008726 OMIM:201750	POR	Causal	14758361	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Cytochrome P450 - arranged by substrate type
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALY AND DISORDER OF STEROIDOGENESIS	63269	POR	Unknown	15483095	Orphanet	Cytochrome P450 - arranged by substrate type
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	207410 MONDO:0020667 OMIM:207410	FGFR2	Causal	9605588 10633130 15793702	CTD, ClinVar, GWAS catalog, HPO	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
	207410 MONDO:0020667 OMIM:207410	POR	Causal	—	CTD, ClinVar, HPO	Cytochrome P450 - arranged by substrate type
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALY OR DISORDER OF STEROIDOGENESIS	596008	FGFR2	Unknown	20301592	Orphanet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
ANTLEY-BIXLER SYNDROME, AUTOSOMAL DOMINANT	C2936791	FGFR2	Unknown	10633130 15793702 9605588	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
ANTLEY-BIXLER SYNDROME, AUTOSOMAL DOMINANT	C2936791	POR	Unknown	—	Disgenet	Cytochrome P450 - arranged by substrate type