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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	64241
Gene name	ATP binding cassette subfamily G member 8
Gene symbol	ABCG8
Synonyms (NCBI Gene)	GBD4STSLSTSL1
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

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

198

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

Show/Hide all (3)

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

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16870176, 27144356, 32296183
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: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	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016020	Component	Membrane	IEA
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	IEA
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	IBA
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0043235	Component	Receptor complex	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:0055092	Process	Sterol homeostasis	IEA
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

MIM	HGNC	e!Ensembl
605460	13887	ENSG00000143921

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

792

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCG8-related disorder	Likely pathogenic; Pathogenic	rs137852987, rs137852988, rs137852991, rs1426776095, rs544500542, rs934115584, rs1456237152	RCV003407277 RCV003407278 RCV003952343 RCV003410869 RCV003420036 RCV004742522 RCV004742533
Abnormal circulating lipid concentration	Pathogenic	rs2466292637	RCV002283587
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs371646728, rs137852987, rs137852988, rs137852991, rs780072835	RCV005724774 RCV002426490 RCV002408452 RCV003298028 RCV005382518
Early-onset coronary artery disease	Likely pathogenic; Pathogenic	rs137852988, rs2466203768	RCV005406725 RCV004765922
Gallbladder disease 4	Likely pathogenic; Pathogenic	rs137852987	RCV002504749
Sitosterolemia	Likely pathogenic; Pathogenic	rs137852987, rs137852988, rs137852991, rs544500542, rs1456237152, rs957176669	RCV000005255 RCV000005256 RCV000005260 RCV005357786 RCV005357791 RCV000602419
Sitosterolemia 1	Likely pathogenic; Pathogenic	rs762279471, rs1317214046, rs754182905, rs770023485, rs137852987, rs137852988, rs387906323, rs137852991, rs137852992, rs137852993, rs780072835, rs2466201941, rs770488528, rs137854891, rs544500542 View all (6 more)	RCV002245433 RCV002272663 RCV002272852 RCV005636709 RCV000993693 RCV000993692 RCV000005259 RCV000993691 RCV000005261 RCV000005262 RCV005631076 RCV003141324 RCV003141367 RCV000032718 RCV002280880 RCV005630765 RCV001783098 RCV005632514 RCV001784224 RCV003989650 RCV001248858

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Conflicting classifications of pathogenicity	rs113005049	RCV001270619
Familial cancer of breast	Benign; Likely benign	rs148770185	RCV005915340
Familial hemolytic anemia	Uncertain significance	rs779984848	RCV000655925
Gastric cancer	Conflicting classifications of pathogenicity	rs557890655	RCV005901879
Hepatocellular carcinoma	Benign	rs28517482	RCV005896186
Nonpapillary renal cell carcinoma	Uncertain significance	rs886056036	RCV005896187
Pancreatic adenocarcinoma	Uncertain significance	rs376069170	RCV005931904
Premature coronary artery atherosclerosis	Uncertain significance	rs767597558	RCV003444010
Thrombocytopenia	Conflicting classifications of pathogenicity	rs113005049	RCV001270619

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)