Disease table of SITOSTEROLEMIA OMIM ID: 210250

Gene-disease associations table

GeneAssociated with SITOSTEROLEMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ABCG8ClinVar, OMIM, HUMSAVARHGNC link2p212PS600803, 210250
ABCG5ClinVar, OMIM, HUMSAVARHGNC link2p211210250

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
2p212ABCG8, ABCG5
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
2p212ABCG8, ABCG5
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2p22ABCG8, ABCG5
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2p2ABCG8, ABCG5
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
22ABCG8, ABCG5
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SREBF2NO20ABCG5, ACOT7, LRP1, NPC1L1, FABP6, FAS, ABCA1, FDFT1, PCSK9, LDLR, PRSS8, HMGCR, FDPS, PON2, ABCG8, HNF4A, MTTP, PPARG, PON1, LIPC2ABCG5, ABCG8
HNF4ANO43GPR39, TBP, CYP2C9, CEACAM1, KCNJ11, LDLR, SHBG, APOA1, UGT2B7, MMP7, CYP7A1, HNF1A, ABCC6, SERPINC1, GH1, PCSK9, CYP2B6, NR1I2, CYP2D6, ABCG8, PPARA, APOB, ABCG5, CDKN1A, AFP, CYP27A1, ACMSD, SLC26A3, RNASE2, SLC22A6, UGT1A7, AKR1C4, GCK, NPC1L1, C1QTNF5, APOA2, APOC3, ACAT2, CYP2C8, FABP2, GFER, MYC, LIPC2ABCG5, ABCG8
NR5A2NO12ABCG5, NR5A2, HSD3B2, CCNE1, CYP11B1, STAR, SLC10A2, ABCB11, CYP11A1, CETP, CYP19A1, ABCG82ABCG5, ABCG8
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ABCG8YES3NR5A2, SREBF2, HNF4A0
ABCG5YES3NR5A2, SREBF2, HNF4A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ABCG8ABCG5Yes0

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
ABCG8ABCG5Yesbinding0

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
ABCG8ABCG5Yes2ABCG5, ABCG8

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

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
ABC transportershsa020107.282ABCG5, ABCG8
Fat digestion and absorptionhsa049757.452ABCG5, ABCG8
Bile secretionhsa049766.562ABCG5, ABCG8

NET-GE enrichment

Term New enriched termICP valueGenes
Membrane transportNEW7.280.0ABCG5, ABCG8
ABC transporters (hsa02010) -7.280.0ABCG5, ABCG8
Digestive systemNEW4.120.026ABCG5, ABCG8
Fat digestion and absorption (hsa04975) -7.450.0ABCG5, ABCG8
Bile secretion (hsa04976) -6.560.001ABCG5, ABCG8
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Trafficking of dietary sterolsR-HSA-26547311.42ABCG5, ABCG8
ABC-family proteins mediated transportR-HSA-3825567.592ABCG5, ABCG8
Transmembrane transport of small moleculesR-HSA-3825513.792ABCG5, ABCG8
ABC transporters in lipid homeostasisR-HSA-13690629.082ABCG5, ABCG8
MetabolismR-HSA-14307282.342ABCG5, ABCG8
Lipid digestion, mobilization, and transportR-HSA-739237.22ABCG5, ABCG8
Metabolism of lipids and lipoproteinsR-HSA-5568333.792ABCG5, ABCG8

NET-GE enrichment

Term New enriched termICP valueGenes
Trafficking of dietary sterols (R-HSA-265473) -11.40.0ABCG5, ABCG8
ABC-family proteins mediated transport (R-HSA-382556) -7.590.0ABCG5, ABCG8
Transmembrane transport of small molecules (R-HSA-382551) -3.790.042ABCG5, ABCG8
ABC transporters in lipid homeostasis (R-HSA-1369062) -9.080.0ABCG5, ABCG8
Lipid digestion, mobilization, and transport (R-HSA-73923) -7.20.0ABCG5, ABCG8
Metabolism of lipids and lipoproteins (R-HSA-556833) -3.790.042ABCG5, ABCG8
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
purine ribonucleoside triphosphate binding (GO:0035639) 2.222ABCG5, ABCG8
cholesterol transporter activity (GO:0017127) 7.172ABCG5, ABCG8
binding (GO:0005488) 0.182ABCG5, ABCG8
ATPase activity (GO:0016887) 3.652ABCG5, ABCG8
heterocyclic compound binding (GO:1901363) 1.062ABCG5, ABCG8
purine nucleoside binding (GO:0001883) 2.222ABCG5, ABCG8
nucleoside binding (GO:0001882) 2.212ABCG5, ABCG8
ATPase activity, coupled to transmembrane movement of substances (GO:0042626) 5.062ABCG5, ABCG8
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820) 5.032ABCG5, ABCG8
ATPase activity, coupled (GO:0042623) 3.972ABCG5, ABCG8
nucleotide binding (GO:0000166) 1.962ABCG5, ABCG8
primary active transmembrane transporter activity (GO:0015399) 4.982ABCG5, ABCG8
nucleoside phosphate binding (GO:1901265) 1.962ABCG5, ABCG8
ribonucleoside binding (GO:0032549) 2.222ABCG5, ABCG8
purine nucleotide binding (GO:0017076) 2.192ABCG5, ABCG8
active transmembrane transporter activity (GO:0022804) 3.852ABCG5, ABCG8
lipid transporter activity (GO:0005319) 5.032ABCG5, ABCG8
hydrolase activity (GO:0016787) 1.92ABCG5, ABCG8
transporter activity (GO:0005215) 2.572ABCG5, ABCG8
nucleoside-triphosphatase activity (GO:0017111) 3.092ABCG5, ABCG8
small molecule binding (GO:0036094) 1.892ABCG5, ABCG8
catalytic activity (GO:0003824) 1.052ABCG5, ABCG8
sterol transporter activity (GO:0015248) 6.852ABCG5, ABCG8
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032ABCG5, ABCG8
substrate-specific transporter activity (GO:0022892) 2.722ABCG5, ABCG8
adenyl nucleotide binding (GO:0030554) 2.42ABCG5, ABCG8
carbohydrate derivative binding (GO:0097367) 2.032ABCG5, ABCG8
organic cyclic compound binding (GO:0097159) 1.052ABCG5, ABCG8
ATPase activity, coupled to movement of substances (GO:0043492) 4.932ABCG5, ABCG8
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032ABCG5, ABCG8
purine ribonucleoside binding (GO:0032550) 2.222ABCG5, ABCG8
pyrophosphatase activity (GO:0016462) 3.042ABCG5, ABCG8
transmembrane transporter activity (GO:0022857) 2.822ABCG5, ABCG8
adenyl ribonucleotide binding (GO:0032559) 2.412ABCG5, ABCG8
ATP binding (GO:0005524) 2.432ABCG5, ABCG8
protein binding (GO:0005515) 0.462ABCG5, ABCG8
purine ribonucleotide binding (GO:0032555) 2.22ABCG5, ABCG8
protein dimerization activity (GO:0046983) 2.722ABCG5, ABCG8
protein heterodimerization activity (GO:0046982) 3.642ABCG5, ABCG8
P-P-bond-hydrolysis-driven transmembrane transporter activity (GO:0015405) 4.982ABCG5, ABCG8
ribonucleotide binding (GO:0032553) 2.192ABCG5, ABCG8

NET-GE enrichment

Term New enriched termICP valueGenes
protein heterodimerization activity (GO:0046982) -3.640.016ABCG5, ABCG8
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
response to extracellular stimulus (GO:0009991) 3.712ABCG5, ABCG8
single-multicellular organism process (GO:0044707) 1.782ABCG5, ABCG8
digestive system process (GO:0022600) 5.62ABCG5, ABCG8
sterol transport (GO:0015918) 5.842ABCG5, ABCG8
organic hydroxy compound transport (GO:0015850) 4.962ABCG5, ABCG8
negative regulation of intestinal absorption (GO:1904479) 8.342ABCG5, ABCG8
regulation of intestinal absorption (GO:1904478) 7.532ABCG5, ABCG8
(GO:1904730) 9.042ABCG5, ABCG8
regulation of intestinal cholesterol absorption (GO:0030300) 7.782ABCG5, ABCG8
cholesterol transport (GO:0030301) 5.882ABCG5, ABCG8
homeostatic process (GO:0042592) 2.612ABCG5, ABCG8
(GO:0010949) 9.042ABCG5, ABCG8
cholesterol homeostasis (GO:0042632) 5.62ABCG5, ABCG8
localization (GO:0051179) 1.42ABCG5, ABCG8
regulation of biological process (GO:0050789) 0.452ABCG5, ABCG8
single-organism process (GO:0044699) 0.482ABCG5, ABCG8
regulation of localization (GO:0032879) 1.942ABCG5, ABCG8
excretion (GO:0007588) 6.042ABCG5, ABCG8
regulation of system process (GO:0044057) 3.532ABCG5, ABCG8
negative regulation of cholesterol transport (GO:0032375) 7.242ABCG5, ABCG8
regulation of cholesterol transport (GO:0032374) 6.092ABCG5, ABCG8
negative regulation of multicellular organismal process (GO:0051241) 2.842ABCG5, ABCG8
regulation of sterol transport (GO:0032371) 6.092ABCG5, ABCG8
negative regulation of sterol transport (GO:0032372) 7.242ABCG5, ABCG8
biological regulation (GO:0065007) 0.392ABCG5, ABCG8
regulation of transport (GO:0051049) 2.242ABCG5, ABCG8
negative regulation of biological process (GO:0048519) 1.332ABCG5, ABCG8
regulation of biological quality (GO:0065008) 1.682ABCG5, ABCG8
multicellular organismal process (GO:0032501) 1.452ABCG5, ABCG8
negative regulation of transport (GO:0051051) 3.62ABCG5, ABCG8
regulation of intestinal lipid absorption (GO:1904729) 7.782ABCG5, ABCG8
response to nutrient (GO:0007584) 4.492ABCG5, ABCG8
transport (GO:0006810) 1.512ABCG5, ABCG8
lipid transport (GO:0006869) 4.242ABCG5, ABCG8
intestinal cholesterol absorption (GO:0030299) 7.532ABCG5, ABCG8
single-organism transport (GO:0044765) 2.182ABCG5, ABCG8
regulation of multicellular organismal process (GO:0051239) 1.872ABCG5, ABCG8
response to chemical (GO:0042221) 1.982ABCG5, ABCG8
establishment of localization (GO:0051234) 1.482ABCG5, ABCG8
regulation of lipid transport (GO:0032368) 5.212ABCG5, ABCG8
transmembrane transport (GO:0055085) 2.722ABCG5, ABCG8
single-organism localization (GO:1902578) 2.092ABCG5, ABCG8
system process (GO:0003008) 2.32ABCG5, ABCG8
lipid homeostasis (GO:0055088) 5.02ABCG5, ABCG8
organic substance transport (GO:0071702) 2.152ABCG5, ABCG8
response to external stimulus (GO:0009605) 2.552ABCG5, ABCG8
(GO:0045796) 9.042ABCG5, ABCG8
response to stimulus (GO:0050896) 1.222ABCG5, ABCG8
negative regulation of lipid transport (GO:0032369) 6.432ABCG5, ABCG8
response to drug (GO:0042493) 3.712ABCG5, ABCG8
response to nutrient levels (GO:0031667) 3.772ABCG5, ABCG8
intestinal absorption (GO:0050892) 6.432ABCG5, ABCG8
chemical homeostasis (GO:0048878) 2.972ABCG5, ABCG8
negative regulation of digestive system process (GO:0060457) 7.092ABCG5, ABCG8
cholesterol efflux (GO:0033344) 6.472ABCG5, ABCG8
regulation of digestive system process (GO:0044058) 6.172ABCG5, ABCG8
sterol homeostasis (GO:0055092) 5.62ABCG5, ABCG8
intestinal lipid absorption (GO:0098856) 7.532ABCG5, ABCG8

NET-GE enrichment

Term New enriched termICP valueGenes
response to extracellular stimulus (GO:0009991) -3.710.036ABCG5, ABCG8
digestive system process (GO:0022600) -5.60.006ABCG5, ABCG8
sterol transport (GO:0015918) -5.840.002ABCG5, ABCG8
organic hydroxy compound transport (GO:0015850) -4.960.004ABCG5, ABCG8
regulation of intestinal cholesterol absorption (GO:0030300) -7.780.0ABCG5, ABCG8
cholesterol transport (GO:0030301) -5.880.002ABCG5, ABCG8
purine nucleoside monophosphate catabolic process (GO:0009128) NEW7.940.047ABCG5, ABCG8
negative regulation of intestinal phytosterol absorption (GO:0010949) -9.040.0ABCG5, ABCG8
sterol homeostasis (GO:0055092) -5.60.006ABCG5, ABCG8
nucleoside monophosphate catabolic process (GO:0009125) NEW7.650.048ABCG5, ABCG8
negative regulation of transport (GO:0051051) -3.60.049ABCG5, ABCG8
negative regulation of cholesterol transport (GO:0032375) -7.240.0ABCG5, ABCG8
regulation of digestive system process (GO:0044058) -6.170.0ABCG5, ABCG8
lipid transport (GO:0006869) -4.240.015ABCG5, ABCG8
regulation of sterol transport (GO:0032371) -6.090.0ABCG5, ABCG8
negative regulation of sterol transport (GO:0032372) -7.240.0ABCG5, ABCG8
purine ribonucleoside monophosphate catabolic process (GO:0009169) NEW8.120.047ABCG5, ABCG8
excretion (GO:0007588) -6.040.004ABCG5, ABCG8
ribonucleoside monophosphate catabolic process (GO:0009158) NEW8.120.047ABCG5, ABCG8
response to nutrient (GO:0007584) -4.490.01ABCG5, ABCG8
lipid homeostasis (GO:0055088) -5.00.019ABCG5, ABCG8
intestinal cholesterol absorption (GO:0030299) -7.530.0ABCG5, ABCG8
cholesterol homeostasis (GO:0042632) -5.60.001ABCG5, ABCG8
regulation of lipid transport (GO:0032368) -5.210.016ABCG5, ABCG8
negative regulation of intestinal cholesterol absorption (GO:0045796) -9.040.0ABCG5, ABCG8
negative regulation of lipid transport (GO:0032369) -6.430.001ABCG5, ABCG8
response to drug (GO:0042493) -3.710.048ABCG5, ABCG8
response to nutrient levels (GO:0031667) -3.770.031ABCG5, ABCG8
intestinal absorption (GO:0050892) -6.430.0ABCG5, ABCG8
negative regulation of digestive system process (GO:0060457) -7.090.0ABCG5, ABCG8
cholesterol efflux (GO:0033344) -6.470.0ABCG5, ABCG8
regulation of cholesterol transport (GO:0032374) -6.090.0ABCG5, ABCG8
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512ABCG5, ABCG8
plasma membrane protein complex (GO:0098797) 3.552ABCG5, ABCG8
macromolecular complex (GO:0032991) 1.352ABCG5, ABCG8
catalytic complex (GO:1902494) 2.92ABCG5, ABCG8
(GO:0043190) 7.722ABCG5, ABCG8
apical plasma membrane (GO:0016324) 4.132ABCG5, ABCG8
cell part (GO:0044464) 0.112ABCG5, ABCG8
integral component of membrane (GO:0016021) 1.142ABCG5, ABCG8
membrane (GO:0016020) 0.682ABCG5, ABCG8
transporter complex (GO:1990351) 4.042ABCG5, ABCG8
ATPase dependent transmembrane transport complex (GO:0098533) 6.622ABCG5, ABCG8
membrane protein complex (GO:0098796) 2.842ABCG5, ABCG8
ATPase complex (GO:1904949) 6.622ABCG5, ABCG8
plasma membrane region (GO:0098590) 2.972ABCG5, ABCG8
membrane part (GO:0044425) 0.952ABCG5, ABCG8
plasma membrane (GO:0005886) 1.392ABCG5, ABCG8
transmembrane transporter complex (GO:1902495) 4.062ABCG5, ABCG8
plasma membrane part (GO:0044459) 1.952ABCG5, ABCG8
intrinsic component of membrane (GO:0031224) 1.132ABCG5, ABCG8
receptor complex (GO:0043235) 4.012ABCG5, ABCG8

NET-GE enrichment

Term New enriched termICP valueGenes
apical plasma membrane (GO:0016324) -4.130.002ABCG5, ABCG8
plasma membrane region (GO:0098590) -2.970.005ABCG5, ABCG8
membrane region (GO:0098589) NEW3.950.049ABCG5, ABCG8