Disease table of BILE ACID SYNTHESIS DEFECT, CONGENITAL OMIM ID: PS607765

Gene-disease associations table

GeneAssociated with BILE ACID SYNTHESIS DEFECT, CONGENITAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
AMACRClinVar, OMIM, HUMSAVARHGNC link5p13.22PS607765, 614307
ABCD3OMIMHGNC link1p21.31PS607765
HSD3B7ClinVar, OMIM, HUMSAVARHGNC link16p11.21PS607765
AKR1D1ClinVar, OMIM, HUMSAVARHGNC link7q331PS607765
CYP7B1ClinVar, OMIMHGNC link8q12.32PS607765, PS303350

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SP1NO460ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC12CYP7B1, AMACR
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
AMACRYES2SP1, ZNF2020
CYP7B1YES1SP10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ABCD3HSD3B7No1MOV10

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
HSD3B7CYP7B1Yesbinding7MSMO1, SQLE, CH25H, C5ORF4, AGMO, C14ORF1, SC5DL

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Primary bile acid biosynthesishsa001208.684CYP7B1, AMACR, HSD3B7, AKR1D1
Metabolic pathwayshsa011002.493HSD3B7, AMACR, AKR1D1
Steroid hormone biosynthesishsa001406.932CYP7B1, AKR1D1
Peroxisomehsa041466.342ABCD3, AMACR

NET-GE enrichment

Term New enriched termICP valueGenes
Lipid metabolismNEW4.160.001CYP7B1, AMACR, HSD3B7, AKR1D1
Primary bile acid biosynthesis (hsa00120) -8.680.0CYP7B1, AMACR, HSD3B7, AKR1D1
Steroid hormone biosynthesis (hsa00140) -6.930.021CYP7B1, AKR1D1
Peroxisome (hsa04146) -6.340.027ABCD3, AMACR
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of lipids and lipoproteinsR-HSA-5568333.794CYP7B1, AMACR, HSD3B7, AKR1D1
MetabolismR-HSA-14307282.344CYP7B1, AMACR, HSD3B7, AKR1D1
Bile acid and bile salt metabolismR-HSA-1940687.854CYP7B1, AMACR, HSD3B7, AKR1D1
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolR-HSA-1933688.44CYP7B1, AMACR, HSD3B7, AKR1D1
Synthesis of bile acids and bile saltsR-HSA-1921058.234CYP7B1, AMACR, HSD3B7, AKR1D1
Synthesis of bile acids and bile salts via 27-hydroxycholesterolR-HSA-1938079.083CYP7B1, HSD3B7, AKR1D1
Synthesis of bile acids and bile salts via 24-hydroxycholesterolR-HSA-1937759.183HSD3B7, AMACR, AKR1D1

NET-GE enrichment

Term New enriched termICP valueGenes
Bile acid and bile salt metabolism (R-HSA-194068) -7.850.0CYP7B1, AMACR, HSD3B7, AKR1D1
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol (R-HSA-193368) -8.40.0CYP7B1, AMACR, HSD3B7, AKR1D1
Synthesis of bile acids and bile salts via 27-hydroxycholesterol (R-HSA-193807) -9.080.0CYP7B1, HSD3B7, AKR1D1
Synthesis of bile acids and bile salts via 24-hydroxycholesterol (R-HSA-193775) -9.180.0HSD3B7, AMACR, AKR1D1
Synthesis of bile acids and bile salts (R-HSA-192105) -8.230.0CYP7B1, AMACR, HSD3B7, AKR1D1
Metabolism of lipids and lipoproteins (R-HSA-556833) -3.790.002ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.055CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
binding (GO:0005488) 0.185ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
organic cyclic compound binding (GO:0097159) 1.053CYP7B1, ABCD3, AKR1D1
protein binding (GO:0005515) 0.463ABCD3, AMACR, HSD3B7
oxidoreductase activity (GO:0016491) 3.123CYP7B1, HSD3B7, AKR1D1
steroid dehydrogenase activity (GO:0016229) 6.342HSD3B7, AKR1D1
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) 4.832HSD3B7, AKR1D1
heterocyclic compound binding (GO:1901363) 1.062ABCD3, CYP7B1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616) 5.02HSD3B7, AKR1D1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
carboxylic acid metabolic process (GO:0019752) 3.125CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
cellular biosynthetic process (GO:0044249) 1.375ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
small molecule metabolic process (GO:0044281) 2.385CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
small molecule biosynthetic process (GO:0044283) 3.795ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
monocarboxylic acid biosynthetic process (GO:0072330) 4.745CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
single-organism process (GO:0044699) 0.485CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
organic substance biosynthetic process (GO:1901576) 1.345ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
single-organism metabolic process (GO:0044710) 1.635ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
single-organism biosynthetic process (GO:0044711) 2.85CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
organic substance metabolic process (GO:0071704) 0.635ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
lipid metabolic process (GO:0006629) 2.685ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
cellular process (GO:0009987) 0.265CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
monocarboxylic acid metabolic process (GO:0032787) 3.575ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
biosynthetic process (GO:0009058) 1.325ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
single-organism cellular process (GO:0044763) 0.655ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
metabolic process (GO:0008152) 0.585ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
oxoacid metabolic process (GO:0043436) 3.125CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
oxidation-reduction process (GO:0055114) 2.915CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
lipid biosynthetic process (GO:0008610) 3.495ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
primary metabolic process (GO:0044238) 0.695CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
organic acid metabolic process (GO:0006082) 3.015CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
carboxylic acid biosynthetic process (GO:0046394) 4.325CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
organic acid biosynthetic process (GO:0016053) 4.265CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
cellular metabolic process (GO:0044237) 0.695CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
organic cyclic compound metabolic process (GO:1901360) 1.264CYP7B1, AMACR, HSD3B7, AKR1D1
steroid biosynthetic process (GO:0006694) 5.064CYP7B1, AMACR, HSD3B7, AKR1D1
bile acid biosynthetic process (GO:0006699) 6.684CYP7B1, AMACR, HSD3B7, AKR1D1
bile acid metabolic process (GO:0008206) 6.154CYP7B1, AMACR, HSD3B7, AKR1D1
organic cyclic compound biosynthetic process (GO:1901362) 1.664CYP7B1, AMACR, HSD3B7, AKR1D1
steroid metabolic process (GO:0008202) 4.324CYP7B1, AMACR, HSD3B7, AKR1D1
single-organism catabolic process (GO:0044712) 3.213ABCD3, AMACR, AKR1D1
organic substance catabolic process (GO:1901575) 2.453ABCD3, AMACR, AKR1D1
carboxylic acid catabolic process (GO:0046395) 4.583ABCD3, AMACR, AKR1D1
organic acid catabolic process (GO:0016054) 4.443ABCD3, AMACR, AKR1D1
lipid catabolic process (GO:0016042) 4.213ABCD3, AMACR, AKR1D1
cellular catabolic process (GO:0044248) 2.623ABCD3, AMACR, AKR1D1
small molecule catabolic process (GO:0044282) 3.993ABCD3, AMACR, AKR1D1
monocarboxylic acid catabolic process (GO:0072329) 5.263ABCD3, AMACR, AKR1D1
catabolic process (GO:0009056) 2.383ABCD3, AMACR, AKR1D1
lipid oxidation (GO:0034440) 5.472ABCD3, AMACR
fatty acid metabolic process (GO:0006631) 4.032ABCD3, AMACR
sterol metabolic process (GO:0016125) 4.922CYP7B1, AKR1D1
fatty acid beta-oxidation (GO:0006635) 5.782ABCD3, AMACR
secondary alcohol metabolic process (GO:1902652) 5.02CYP7B1, AKR1D1
alcohol metabolic process (GO:0006066) 4.22CYP7B1, AKR1D1
fatty acid catabolic process (GO:0009062) 5.482ABCD3, AMACR
biological regulation (GO:0065007) 0.392CYP7B1, AKR1D1
fatty acid oxidation (GO:0019395) 5.482ABCD3, AMACR
cellular lipid metabolic process (GO:0044255) 2.922ABCD3, AMACR
cholesterol metabolic process (GO:0008203) 5.032CYP7B1, AKR1D1
lipid modification (GO:0030258) 4.372ABCD3, AMACR
cellular lipid catabolic process (GO:0044242) 4.732ABCD3, AMACR
organic hydroxy compound metabolic process (GO:1901615) 3.842CYP7B1, AKR1D1

NET-GE enrichment

Term New enriched termICP valueGenes
lipid oxidation (GO:0034440) -5.470.021ABCD3, AMACR
fatty acid beta-oxidation (GO:0006635) -5.780.011ABCD3, AMACR
carboxylic acid metabolic process (GO:0019752) -3.120.0CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
fatty acid catabolic process (GO:0009062) -5.480.021ABCD3, AMACR
small molecule metabolic process (GO:0044281) -2.380.014CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
small molecule catabolic process (GO:0044282) -3.990.005ABCD3, AMACR, AKR1D1
small molecule biosynthetic process (GO:0044283) -3.790.0CYP7B1, AMACR, HSD3B7, AKR1D1
monocarboxylic acid biosynthetic process (GO:0072330) -4.740.0CYP7B1, AMACR, HSD3B7, AKR1D1
single-organism biosynthetic process (GO:0044711) -2.80.013CYP7B1, AMACR, HSD3B7, AKR1D1
lipid catabolic process (GO:0016042) -4.210.049ABCD3, AMACR, AKR1D1
oxidation-reduction process (GO:0055114) -2.910.0CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
lipid metabolic process (GO:0006629) -2.680.0CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
monocarboxylic acid metabolic process (GO:0032787) -3.570.0ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
monocarboxylic acid catabolic process (GO:0072329) -5.260.002ABCD3, AMACR, AKR1D1
oxoacid metabolic process (GO:0043436) -3.120.0ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
fatty acid oxidation (GO:0019395) -5.480.02ABCD3, AMACR
bile acid metabolic process (GO:0008206) -6.150.0CYP7B1, AMACR, HSD3B7, AKR1D1
steroid metabolic process (GO:0008202) -4.320.0CYP7B1, AMACR, HSD3B7, AKR1D1
lipid biosynthetic process (GO:0008610) -3.490.0CYP7B1, AMACR, HSD3B7, AKR1D1
organic acid metabolic process (GO:0006082) -3.010.011ABCD3, CYP7B1, AMACR, HSD3B7, AKR1D1
carboxylic acid biosynthetic process (GO:0046394) -4.320.0CYP7B1, AMACR, HSD3B7, AKR1D1
carboxylic acid catabolic process (GO:0046395) -4.580.035ABCD3, AMACR, AKR1D1
organic acid catabolic process (GO:0016054) -4.440.035ABCD3, AMACR, AKR1D1
organic acid biosynthetic process (GO:0016053) -4.260.0CYP7B1, AMACR, HSD3B7, AKR1D1
steroid biosynthetic process (GO:0006694) -5.060.0CYP7B1, AMACR, HSD3B7, AKR1D1
bile acid biosynthetic process (GO:0006699) -6.680.0CYP7B1, AMACR, HSD3B7, AKR1D1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.285CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
cell part (GO:0044464) 0.115CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
cytoplasmic part (GO:0044444) 0.825CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
membrane-bounded organelle (GO:0043227) 0.475CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
organelle (GO:0043226) 0.45CYP7B1, ABCD3, AMACR, HSD3B7, AKR1D1
intracellular organelle part (GO:0044446) 0.814ABCD3, CYP7B1, AMACR, HSD3B7
intracellular organelle (GO:0043229) 0.514ABCD3, CYP7B1, AMACR, HSD3B7
intracellular membrane-bounded organelle (GO:0043231) 0.64CYP7B1, ABCD3, AMACR, HSD3B7
organelle part (GO:0044422) 0.794ABCD3, CYP7B1, AMACR, HSD3B7
membrane part (GO:0044425) 0.953ABCD3, CYP7B1, HSD3B7
integral component of membrane (GO:0016021) 1.143ABCD3, CYP7B1, HSD3B7
membrane (GO:0016020) 0.683CYP7B1, ABCD3, HSD3B7
intrinsic component of membrane (GO:0031224) 1.133CYP7B1, ABCD3, HSD3B7
cytoplasm (GO:0005737) 1.012AMACR, AKR1D1
peroxisomal matrix (GO:0005782) 6.02ABCD3, AMACR
endoplasmic reticulum (GO:0005783) 2.562CYP7B1, HSD3B7
endoplasmic reticulum part (GO:0044432) 2.732CYP7B1, HSD3B7
cytosol (GO:0005829) 1.682ABCD3, AKR1D1
organelle lumen (GO:0043233) 3.052ABCD3, AMACR
peroxisome (GO:0005777) 5.012ABCD3, AMACR
membrane-enclosed lumen (GO:0031974) 3.052ABCD3, AMACR
endoplasmic reticulum membrane (GO:0005789) 2.952CYP7B1, HSD3B7
microbody (GO:0042579) 4.932ABCD3, AMACR
intracellular organelle lumen (GO:0070013) 3.052ABCD3, AMACR
mitochondrion (GO:0005739) 2.422ABCD3, AMACR
microbody lumen (GO:0031907) 6.02ABCD3, AMACR
peroxisomal part (GO:0044439) 5.282ABCD3, AMACR
microbody part (GO:0044438) 5.282ABCD3, AMACR
organelle membrane (GO:0031090) 1.972ABCD3, CYP7B1

NET-GE enrichment

Term New enriched termICP valueGenes
peroxisomal matrix (GO:0005782) -6.00.006ABCD3, AMACR
peroxisome (GO:0005777) -5.010.011ABCD3, AMACR
microbody (GO:0042579) -4.930.016ABCD3, AMACR
microbody lumen (GO:0031907) -6.00.006ABCD3, AMACR
peroxisomal part (GO:0044439) -5.280.007ABCD3, AMACR
microbody part (GO:0044438) -5.280.007ABCD3, AMACR