Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64241
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily G member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCG8
Synonyms (NCBI Gene) Gene synonyms aliases	GBD4, STSL, STSL1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	GBD4, STSL1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113005049	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs137852987	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs137852988	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852989	C>G	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852990	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852991	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852992	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852993	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs139677898	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs140778634	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs144200355	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs145482605	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs146046068	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147582834	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147991100	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs150654176	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201991639	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369131115	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906323	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs544500542	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs957176669	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Splice acceptor variant
rs1456237152	->GTGAGCGCAGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

Show/Hide all(198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017992	hsa-miR-335-5p	Microarray	18185580
MIRT022678	hsa-miR-124-3p	Microarray	18668037
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT724305	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT611785	hsa-miR-618	HITS-CLIP	19536157
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT611783	hsa-miR-603	HITS-CLIP	19536157
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT695855	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT695854	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT695853	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT695852	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT695851	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT695850	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT695849	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT695848	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695847	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695846	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695845	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695844	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695843	hsa-miR-302e	HITS-CLIP	23313552
MIRT695842	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695841	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695840	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695839	hsa-miR-520b	HITS-CLIP	23313552
MIRT695838	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695837	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695836	hsa-miR-520e	HITS-CLIP	23313552
MIRT695835	hsa-miR-4438	HITS-CLIP	23313552
MIRT695834	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695833	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT695832	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695831	hsa-miR-520h	HITS-CLIP	23313552
MIRT695830	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT695829	hsa-miR-1470	HITS-CLIP	23313552
MIRT695828	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT695827	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695826	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695825	hsa-miR-4290	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695823	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695822	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695821	hsa-miR-5095	HITS-CLIP	23313552
MIRT695820	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT695819	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT518736	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT518735	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT518734	hsa-miR-940	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518733	hsa-miR-6823-5p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	23446348
MIRT518731	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT518730	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT518729	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT518728	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT518727	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT518726	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518724	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT518723	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT518722	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT518721	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	27292025
MIRT695824	hsa-miR-6778-3p	PAR-CLIP	27292025
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT724305	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT611785	hsa-miR-618	HITS-CLIP	19536157
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT611783	hsa-miR-603	HITS-CLIP	19536157
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT695855	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT695854	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT695853	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT695852	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT695851	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT695850	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT695849	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT695848	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695847	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695846	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695845	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695844	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695843	hsa-miR-302e	HITS-CLIP	23313552
MIRT695842	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695841	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695840	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695839	hsa-miR-520b	HITS-CLIP	23313552
MIRT695838	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695837	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695836	hsa-miR-520e	HITS-CLIP	23313552
MIRT695835	hsa-miR-4438	HITS-CLIP	23313552
MIRT695834	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695833	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT695832	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695831	hsa-miR-520h	HITS-CLIP	23313552
MIRT695830	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT695829	hsa-miR-1470	HITS-CLIP	23313552
MIRT695828	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT695827	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695826	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695825	hsa-miR-4290	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695823	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695822	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695821	hsa-miR-5095	HITS-CLIP	23313552
MIRT695820	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT695819	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT518736	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT518735	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT518734	hsa-miR-940	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518733	hsa-miR-6823-5p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	23446348
MIRT518731	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT518730	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT518729	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT518728	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT518727	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT518726	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518724	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT518723	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT518722	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT518721	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT759343	hsa-miR-1227	CLIP-seq
MIRT759344	hsa-miR-1298	CLIP-seq
MIRT759345	hsa-miR-331-3p	CLIP-seq
MIRT759346	hsa-miR-3665	CLIP-seq
MIRT759347	hsa-miR-4308	CLIP-seq
MIRT759348	hsa-miR-4715-3p	CLIP-seq
MIRT759349	hsa-miR-4760-3p	CLIP-seq
MIRT759350	hsa-miR-4762-5p	CLIP-seq
MIRT759351	hsa-miR-4786-3p	CLIP-seq
MIRT759352	hsa-miR-657	CLIP-seq
MIRT759353	hsa-miR-664	CLIP-seq
MIRT759354	hsa-miR-7	CLIP-seq
MIRT2467348	hsa-miR-138	CLIP-seq
MIRT2467349	hsa-miR-4642	CLIP-seq
MIRT2467348	hsa-miR-138	CLIP-seq
MIRT2467349	hsa-miR-4642	CLIP-seq

Transcription factors

Show/Hide all(3)

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

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16870176, 32296183
GO:0005524	Function	ATP binding	IDA	16893193
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0007584	Process	Response to nutrient	IEA
GO:0007588	Process	Excretion	IGI	14504269
GO:0010949	Process	Negative regulation of intestinal phytosterol absorption	IMP	11099417
GO:0014850	Process	Response to muscle activity	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016324	Component	Apical plasma membrane	IMP	14504269
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016887	Function	ATPase activity	IDA	16893193
GO:0030299	Process	Intestinal cholesterol absorption	IC	12208868
GO:0033344	Process	Cholesterol efflux	IGI	14504269
GO:0033344	Process	Cholesterol efflux	IMP	27144356
GO:0038183	Process	Bile acid signaling pathway	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	27144356
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IMP	11099417, 27144356
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IDA	16893193, 27144356
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0045796	Process	Negative regulation of intestinal cholesterol absorption	IMP	11099417
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0055085	Process	Transmembrane transport	TAS
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IGI	14504269

MIM	HGNC	e!Ensembl
605460	13887	ENSG00000143921

Protein

UniProt ID

Q9H221

Protein name

ATP-binding cassette sub-family G member 8 (EC 7.6.2.-) (Sterolin-2)

Protein function

ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in th

PDB

5DO7 , 7JR7 , 7R87 , 7R88 , 7R89 , 7R8A , 7R8B , 8CUB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00005	ABC_tran	88 → 241	ABC transporter	Domain
PF19055	ABC2_membrane_7	270 → 355	ABC-2 type transporter	Family
PF01061	ABC2_membrane	397 → 608	ABC-2 type transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in the liver (PubMed:11099417, PubMed:11452359). Low expression levels in the small intestine and colon (PubMed:11099417). Very low levels in other tissues, including brain, heart and spleen (PubMed:11452359). {

Sequence

MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLAS
QVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITG
RGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFS
QAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHM
VQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFL
WKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH
GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY
ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVF
CCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCF
EGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYV
SLRFIKQKPSQDW

Sequence length

673

Interactions

View interactions

Show/Hide Unknown Diseases (9)

Disease term	Disease name	Source
Unknown
Sitosterolemia	sitosterolemia 1	GenCC
Coronary artery disease	Coronary artery disease	GWAS
Hyperlipidemia	Hyperlipidemia	GWAS
Pancreatitis	Pancreatitis	GWAS
Cholecystitis	Cholecystitis	GWAS
Cholelithiasis	Cholelithiasis	GWAS
Coronary Heart Disease	Coronary Heart Disease	GWAS
Intrahepatic Cholestasis Of Pregnancy	Intrahepatic Cholestasis Of Pregnancy	GWAS
Myocardial Infarction	Myocardial Infarction	GWAS

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
Cardiovascular Diseases	Associate	23241408
Cholecystitis	Associate	39519421
Cholecystitis Acute	Associate	39519421
Cholelithiasis	Associate	20497293, 23406058, 23577061, 24657701, 27981300, 29764733, 30692554, 36981027, 37344314, 37914780, 40428345
Cholestasis	Inhibit	25798860
Coronary Artery Disease	Associate	15375183, 20592455, 21966275, 32702746, 32862661
Gallbladder Diseases	Associate	25920552
Gallbladder Neoplasms	Associate	30692554
Gallstones	Associate	18007013, 23406058, 24657701, 24914347, 29764733, 32702746, 34906072, 37344314
Hematologic Diseases	Associate	24166850
Hemolysis	Associate	16029460, 22297561
Hypercholesterolemia	Associate	14703505, 36991406, 38122934
Hyperlipoproteinemia Type II	Associate	25414277, 30269829, 31327807, 31901240, 34011801, 36648309, 38122934
Insulin Resistance	Associate	15175352
Kidney Calculi	Associate	37344314
Liver Diseases	Associate	31538484
Liver Failure	Associate	25798860
Lung Neoplasms	Associate	25683935
Myocardial Infarction	Associate	24657701, 37914780
Neoplastic Syndromes Hereditary	Associate	34237177
Periodontitis	Associate	34805411
Pre Eclampsia	Associate	35124425
Sitosterolemia	Associate	15175352, 15210841, 15375183, 16029460, 16507104, 22297561, 24166850, 29055934, 31901240, 32641618, 32862661, 34887220, 36329474
Stomach Neoplasms	Associate	24716914
Xanthomatosis	Associate	22297561

ABCG8 (ATP binding cassette subfamily G member 8)