ABCG5 (ATP binding cassette subfamily G member 5)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64240
• Gene name: ATP binding cassette subfamily G member 5
• Gene symbol: ABCG5
• Synonyms (NCBI Gene): STSL, STSL2
• Chromosome: 2
• Chromosome location: 2p21
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

miRNA Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT724539	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT724538	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724537	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT724536	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724535	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT724534	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT724533	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT724539	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT724538	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724537	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT724536	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724535	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT724534	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT724533	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT1923805	hsa-miR-34b	CLIP-seq
MIRT1923806	hsa-miR-362-5p	CLIP-seq
MIRT1923807	hsa-miR-500a	CLIP-seq
MIRT1923808	hsa-miR-500b	CLIP-seq
MIRT1923809	hsa-miR-584	CLIP-seq
MIRT1923810	hsa-miR-668	CLIP-seq
MIRT1923811	hsa-miR-873	CLIP-seq
MIRT1923807	hsa-miR-500a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Repression	21123766
NR5A2	Activation	15121760
SREBF2	Repression	21123766

Gene ontology (GO) Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16870176, 17474147, 27144356
GO:0005524	Function	ATP binding	IDA	16893193
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010949	Process	Negative regulation of intestinal phytosterol absorption	IMP	11099417
GO:0014850	Process	Response to muscle activity	IEA
GO:0015918	Process	Sterol transport	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IMP	14504269
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016887	Function	ATP hydrolysis activity	IDA	16893193
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030299	Process	Intestinal cholesterol absorption	IC	12208868
GO:0031667	Process	Response to nutrient levels	IEA
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	IGI	14504269
GO:0033344	Process	Cholesterol efflux	IMP	27144356
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	27144356
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	11099417, 27144356
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IBA
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IDA	16893193, 27144356
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0043235	Component	Receptor complex	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045796	Process	Negative regulation of intestinal cholesterol absorption	IMP	11099417
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0046983	Function	Protein dimerization activity	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:0120020	Function	Cholesterol transfer activity	IEA
GO:0120020	Function	Cholesterol transfer activity	IGI	14504269
GO:0140359	Function	ABC-type transporter activity	IEA

Other IDs

• MIM: 605459
• HGNC: 13886
• e!Ensembl: ENSG00000138075

Protein

• UniProt ID: Q9H222
• Protein name: ATP-binding cassette sub-family G member 5 (EC 7.6.2.-) (Sterolin-1)
• Protein function: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and
• PDB: 5DO7 , 7JR7 , 7R87 , 7R88 , 7R89 , 7R8A , 7R8B , 8CUB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01061	ABC2_membrane	366 → 580	ABC-2 type transporter	Family
  PF00005	ABC_tran	69 → 221	ABC transporter	Domain
  PF19055	ABC2_membrane_7	250 → 362	ABC-2 type transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in the liver, lower levels in the small intestine and colon. {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11138003}.
• Sequence:

  MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC
  RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL
  RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV
  ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
  RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF
  YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD
  SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV
  GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
  IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA
  GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC
  AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR

• Sequence length: 651

Pathways

KEGG Pathway	Reactome Pathway
ABC transporters	ABC transporters in lipid homeostasis
Fat digestion and absorption	Defective ABCG8 causes gallbladder disease 4 and sitosterolemia
Bile secretion	Defective ABCG5 causes sitosterolemia
Cholesterol metabolism	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (8)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ABCG5-related disorder	Pathogenic; Likely pathogenic	rs119479066, rs119480069	RCV003415656 RCV004752684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal circulating lipid concentration	Pathogenic	rs781098379	RCV002283584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs140111105, rs768019354, rs781098379, rs2466150084, rs145300824, rs119480069, rs754944896, rs1470569820, rs762031825	RCV004038481 RCV002382475 RCV004047564 RCV002383671 RCV003162174 RCV002326665 RCV004306864 RCV004355152 RCV002346209	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia	Pathogenic	rs781098379	RCV002282969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 15 with polydactyly	Likely pathogenic	rs2466053172	RCV003336012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sitosterolemia	Likely pathogenic; Pathogenic	rs370368811, rs140111105, rs780744534, rs755809709, rs781098379, rs1404218188, rs575266356, rs145300824, rs1171022283, rs119479065, rs119480069, rs2465951776, rs2465896835, rs869025350, rs1428480606, rs770488364, rs754893727, rs1344704197, rs1558738919, rs762031825	RCV005100306 RCV001379567 RCV001449803 RCV001968898 RCV001948755 RCV005096030 RCV002651457 RCV002634369 RCV003122695 RCV002578084 RCV003505078 RCV001232197 RCV002875983 RCV003022620 RCV000208063 RCV003506210 RCV003506686 RCV003611056 RCV003611425 RCV003612136 RCV003611543 RCV003505154	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia 1	Likely pathogenic; Pathogenic	rs762031825	RCV002245833	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sitosterolemia 2	Pathogenic; Likely pathogenic	rs140111105, rs145300824, rs119479065, rs119479066, rs119479067, rs119480069, rs119480070, rs754944896, rs2466053172, rs1482373824, rs387906912, rs1558738919	RCV002466677 RCV005636838 RCV000005264 RCV000005265 RCV000005266 RCV000005267 RCV000005268 RCV000005269 RCV004796795 RCV003336012 RCV003984959 RCV000023441 RCV001534613	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (29)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormal bleeding	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	11138003	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	11099417, 11138003, 37705021	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	19060911	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	19060911	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER DISEASE 4	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	37705021	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemic nephropathy, familial juvenile type 4	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	38491158	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	22919386	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	37705021	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XANTHOMATOSIS	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (100)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15980630		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11099417, 15044450, 15175362, 19005228, 24423340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11099417, 15044450, 15175362, 19005228, 24423340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	11138003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	33228147	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	27291889	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	40629026	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	27291889		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12865730, 17976197, 19306529		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ABCG8 9 shared diseasesThrombocytopenia, Hemolytic anemia, Arteriosclerosis, Cholecystolithiasis, Ischemic heart disease, Pancreatitis, Gallbladder disease, Gallstones, Sitosterolemia 8 shared pathwaysABC transporters, Fat digestion and absorption, Bile secretion, Cholesterol metabolism, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, ABC transporters in lipid homeostasis, Defective ABCG8 causes gallbladder disease 4 and sitosterolemia, Defective ABCG5 causes sitosterolemia 16 shared evidence sourcesDisgenet (Hemolytic anemia), Disgenet (Arteriosclerosis), GWAS catalog (Cholecystolithiasis), Disgenet (Ischemic heart disease), GWAS catalog (Pancreatitis), Disgenet (Coronary artery disease), CTD (Coronary artery disease), Disgenet (Gallbladder disease), GWAS catalog (Gallstones), CTD (Sitosterolemia), ClinGen (Sitosterolemia), ClinVar (Sitosterolemia) +4 more Related via 9 shared diseases including Thrombocytopenia, Hemolytic anemia — evidence mostly Disgenet. APOA4 3 shared diseasesAtherosclerosis, Tubulointerstitial kidney disease, Hypercholesterolemia 2 shared pathwaysFat digestion and absorption, Cholesterol metabolism 4 shared evidence sourcesCTD (Atherosclerosis), Disgenet (Atherosclerosis), Disgenet (Tubulointerstitial kidney disease), Disgenet (Hypercholesterolemia) Related via 3 shared diseases including Atherosclerosis, Tubulointerstitial kidney disease — evidence mostly Disgenet. ABCA1 4 shared diseasesAtherosclerosis, Ischemic heart disease, Hypercholesterolemia, Gallstones 4 shared pathwaysABC transporters, Fat digestion and absorption, Cholesterol metabolism, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux 6 shared evidence sourcesCTD (Atherosclerosis), Disgenet (Atherosclerosis), Disgenet (Ischemic heart disease), Disgenet (Coronary artery disease), GWAS catalog (Gallstones), Disgenet (Hypercholesterolemia) Related via 4 shared diseases including Atherosclerosis, Ischemic heart disease — evidence mostly Disgenet. CYP7A1 3 shared diseasesCholecystolithiasis, Hypercholesterolemia, Gallstones 2 shared pathwaysBile secretion, Cholesterol metabolism 3 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones), Disgenet (Hypercholesterolemia) Related via 3 shared diseases including Cholecystolithiasis, Hypercholesterolemia — evidence mostly GWAS catalog. DYNC2LI1 4 shared diseasesThrombocytopenia, Cholecystolithiasis, Short-rib thoracic dysplasia, Sitosterolemia 4 shared evidence sourcesGWAS catalog (Cholecystolithiasis), Disgenet (Short-rib thoracic dysplasia), Disgenet (Sitosterolemia), Disgenet (Thrombocytopenia) Related via 4 shared diseases including Thrombocytopenia, Cholecystolithiasis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ABCG8	9	["Thrombocytopenia","Hemolytic anemia","Arteriosclerosis","Cholecystolithiasis","Ischemic heart disease","Pancreatitis","Gallbladder disease","Gallstones","Sitosterolemia"]	8	["ABC transporters","Fat digestion and absorption","Bile secretion","Cholesterol metabolism","NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux","ABC transporters in lipid homeostasis","Defective ABCG8 causes gallbladder disease 4 and sitosterolemia","Defective ABCG5 causes sitosterolemia"]	16	["Disgenet (Hemolytic anemia)","Disgenet (Arteriosclerosis)","GWAS catalog (Cholecystolithiasis)","Disgenet (Ischemic heart disease)","GWAS catalog (Pancreatitis)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","Disgenet (Gallbladder disease)","GWAS catalog (Gallstones)","CTD (Sitosterolemia)","ClinGen (Sitosterolemia)","ClinVar (Sitosterolemia)"]
APOA4	3	["Atherosclerosis","Tubulointerstitial kidney disease","Hypercholesterolemia"]	2	["Fat digestion and absorption","Cholesterol metabolism"]	4	["CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Tubulointerstitial kidney disease)","Disgenet (Hypercholesterolemia)"]
ABCA1	4	["Atherosclerosis","Ischemic heart disease","Hypercholesterolemia","Gallstones"]	4	["ABC transporters","Fat digestion and absorption","Cholesterol metabolism","NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux"]	6	["CTD (Atherosclerosis)","Disgenet (Atherosclerosis)","Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)","GWAS catalog (Gallstones)","Disgenet (Hypercholesterolemia)"]
CYP7A1	3	["Cholecystolithiasis","Hypercholesterolemia","Gallstones"]	2	["Bile secretion","Cholesterol metabolism"]	3	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)","Disgenet (Hypercholesterolemia)"]
DYNC2LI1	4	["Thrombocytopenia","Cholecystolithiasis","Short-rib thoracic dysplasia","Sitosterolemia"]	0	[]	4	["GWAS catalog (Cholecystolithiasis)","Disgenet (Short-rib thoracic dysplasia)","Disgenet (Sitosterolemia)","Disgenet (Thrombocytopenia)"]

Diseases Linked via Similar Genes

Metabolic syndrome Linked via 4 of 5 related genesABCG8, APOA4, ABCA1, CYP7A1 Alzheimer disease Linked via 3 of 5 related genesABCG8, APOA4, ABCA1 Hyperlipidemia Linked via 3 of 5 related genesABCG8, ABCA1, CYP7A1 Hyperlipoproteinemia Linked via 3 of 5 related genesABCG8, APOA4, ABCA1 Intrahepatic cholestasis of pregnancy Linked via 2 of 5 related genesABCG8, CYP7A1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Metabolic syndrome	4	["ABCG8","APOA4","ABCA1","CYP7A1"]
Alzheimer disease	3	["ABCG8","APOA4","ABCA1"]
Hyperlipidemia	3	["ABCG8","ABCA1","CYP7A1"]
Hyperlipoproteinemia	3	["ABCG8","APOA4","ABCA1"]
Intrahepatic cholestasis of pregnancy	2	["ABCG8","CYP7A1"]