Congenital bile acid synthesis defect | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	607765 C1843116 MESH:C535442	HSD3B7	Unknown	—	CTD, Disgenet, HPO	Primary bile acid biosynthesis Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +2 more
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	235555 C1856127 MESH:C535443	AKR1D1	Unknown	21185810 25304492	CTD, Disgenet, HPO	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways +3 more
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3	613812 C3151147 MESH:C566340	CYP7B1	Unknown	—	CTD, Disgenet, HPO	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	214950 C1858328 MESH:C535444	AMACR	Unknown	—	CTD, Disgenet, HPO	Primary bile acid biosynthesis Metabolic pathways Peroxisome +4 more
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5	616278 C4225390 OMIM:616278	ABCD3	Unknown	—	CTD, Disgenet, HPO	ABC transporters Peroxisome ABC transporters in lipid homeostasis +1 more
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6	617308 C4310624 OMIM:617308	ACOX2	Unknown	—	CTD, Disgenet, HPO	Primary bile acid biosynthesis Metabolic pathways PPAR signaling pathway +4 more
CONGENITAL BILE ACID SYNTHESIS DEFECT 1	MONDO:0011906	HSD3B7	Causal	12679481 11067870	ClinGen, ClinVar, GenCC	Primary bile acid biosynthesis Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +2 more
CONGENITAL BILE ACID SYNTHESIS DEFECT 2	MONDO:0009339	AKR1D1	Causal	12970144 19175828 15030995 20522910	ClinGen, ClinVar, GWAS catalog	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways +3 more
CONGENITAL BILE ACID SYNTHESIS DEFECT 3	MONDO:0013439	CYP7B1	Causal	18252231 18367963 21541746 21567895 24117163 24641183 28039895 30546280 9802883	ClinVar, Disgenet	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
CONGENITAL BILE ACID SYNTHESIS DEFECT 4	MONDO:0008967	AMACR	Causal	18577977	ClinVar, GWAS catalog	Primary bile acid biosynthesis Metabolic pathways Peroxisome +4 more
CONGENITAL BILE ACID SYNTHESIS DEFECT 5	MONDO:0014564	ABCD3	Unknown	25168382	ClinGen, ClinVar, GenCC	ABC transporters Peroxisome ABC transporters in lipid homeostasis +1 more
CONGENITAL BILE ACID SYNTHESIS DEFECT 6	MONDO:0015015	ACOX2	Causal	27647924 27884763 29287774 31533369 33340570 33736801 35395098 8387517 8943006	CTD, ClinGen, ClinVar	Primary bile acid biosynthesis Metabolic pathways PPAR signaling pathway +4 more
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1	79301	HSD3B7	Unknown	12679481	Orphanet	Primary bile acid biosynthesis Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +2 more
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2	79303	AKR1D1	Unknown	12970144	Orphanet	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways +3 more
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3	79302 C4304715	CYP7B1	Unknown	9802883	Disgenet, Orphanet	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4	79095	AMACR	Unknown	18577977	Orphanet	Primary bile acid biosynthesis Metabolic pathways Peroxisome +4 more