Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	607765 C1843116 MESH:C535442	HSD3B7	Unknown	—	CTD Disgenet HPO
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	235555 C1856127 MESH:C535443	AKR1D1	Unknown	21185810 25304492	CTD Disgenet HPO
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3	613812 C3151147 MESH:C566340	CYP7B1	Unknown	—	CTD Disgenet HPO
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	214950 C1858328 MESH:C535444	AMACR	Unknown	—	CTD Disgenet HPO
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5	616278 C4225390 OMIM:616278	ABCD3	Unknown	—	CTD Disgenet HPO
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6	617308 C4310624 OMIM:617308	ACOX2	Unknown	—	CTD Disgenet HPO
CONGENITAL BILE ACID SYNTHESIS DEFECT 1	MONDO:0011906	HSD3B7	Causal	—	ClinGen ClinVar GenCC
CONGENITAL BILE ACID SYNTHESIS DEFECT 2	MONDO:0009339	AKR1D1	Causal	12970144	ClinGen ClinVar GWAS catalog
CONGENITAL BILE ACID SYNTHESIS DEFECT 3	MONDO:0013439	CYP7B1	Causal	18252231 18367963 21541746 21567895 24117163 24641183 28039895 30546280 9802883	ClinVar Disgenet
CONGENITAL BILE ACID SYNTHESIS DEFECT 4	MONDO:0008967	AMACR	Causal	18577977	ClinVar GWAS catalog
CONGENITAL BILE ACID SYNTHESIS DEFECT 5	MONDO:0014564	ABCD3	Unknown	—	ClinGen ClinVar GenCC
CONGENITAL BILE ACID SYNTHESIS DEFECT 6	MONDO:0015015	ACOX2	Causal	27647924 27884763 29287774 31533369 33340570 33736801 35395098 8387517 8943006	CTD ClinGen ClinVar
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1	79301	HSD3B7	Unknown	12679481	Orphanet
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2	79303	AKR1D1	Unknown	12970144	Orphanet
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3	79302 C4304715	CYP7B1	Unknown	9802883	Disgenet Orphanet
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4	79095	AMACR	Unknown	18577977	Orphanet

Congenital bile acid synthesis defect