ABCB1 (ATP binding cassette subfamily B member 1)

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

Gene

• Entrez ID: 5243
• Gene name: ATP binding cassette subfamily B member 1
• Gene symbol: ABCB1
• Synonyms (NCBI Gene): ABC20, CD243, CLCS, ENPAT, GP170, MDR1, P-GP, PGY1, p-170
• Chromosome: 7
• Chromosome location: 7q21.12
• Summary: The membrane-associated 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

SNPs Show/Hide all (588)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3842	T>C	Drug-response	3 prime UTR variant
rs17064	T>A	Drug-response	3 prime UTR variant
rs868755	T>A,C,G	Drug-response	Intron variant
rs1016793	G>A	Drug-response	Intron variant
rs1045642	A>C,G,T	Not-provided, drug-response, benign	Missense variant, coding sequence variant, synonymous variant
rs1128501	C>A	Pathogenic	Missense variant, coding sequence variant
rs1128503	A>G	Drug-response, benign	Coding sequence variant, synonymous variant
rs1202168	G>A	Drug-response	Intron variant
rs1202170	C>G,T	Drug-response	Intron variant
rs1211152	A>C,G,T	Drug-response	Intron variant
rs1922240	T>A,C	Drug-response	Intron variant
rs1922242	A>C,T	Drug-response	Intron variant
rs2032582	A>C,T	Not-provided, drug-response, risk-factor, benign	Missense variant, coding sequence variant
rs2032588	G>A	Drug-response	Intron variant
rs2214102	T>A,C,G	Drug-response	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs2214103	C>G	Drug-response	Intron variant
rs2235013	C>A,T	Drug-response	Intron variant
rs2235015	C>A,T	Drug-response, benign	Intron variant
rs2235018	T>C	Drug-response	Intron variant
rs2235019	C>A	Drug-response	Intron variant
rs2235020	T>A,G	Drug-response	Intron variant
rs2235021	C>A	Drug-response	Intron variant
rs2235033	A>G,T	Drug-response	Intron variant
rs2235035	G>A	Drug-response	Intron variant
rs2235046	T>A,C,G	Drug-response	Intron variant
rs2235062	G>A,T	Drug-response	Intron variant
rs2235074	G>A	Drug-response	Intron variant
rs2235075	A>G	Drug-response	Intron variant
rs2888599	C>T	Drug-response	Intron variant
rs3213619	A>G	Drug-response	5 prime UTR variant, intron variant
rs3214119	C>-	Drug-response	Intron variant
rs7809208	A>C	Drug-response	Intron variant
rs9282564	T>A,C,G	Drug-response	Coding sequence variant, missense variant
rs10276036	C>A,T	Drug-response	Intron variant
rs13237132	C>G	Drug-response	Intron variant
rs28381817	T>C	Drug-response	Intron variant
rs28381825	T>C	Drug-response	Intron variant
rs28381827	C>T	Drug-response	Intron variant
rs28381848	T>C	Drug-response	Intron variant
rs28381875	C>T	Drug-response	Intron variant
rs28381877	A>G	Drug-response	Intron variant
rs28381903	C>A	Drug-response	Intron variant
rs28381920	G>A	Drug-response	Intron variant
rs55852620	T>G	Benign, drug-response	Missense variant, coding sequence variant
rs58898486	G>T	Drug-response	Intron variant
rs61040122	G>A	Drug-response	Intron variant
rs61122623	C>T	Drug-response	Missense variant, coding sequence variant
rs115493381	C>A,T	Drug-response	Synonymous variant, coding sequence variant
rs116788440	C>T	Drug-response	Intron variant
rs139611979	C>A,T	Drug-response	Missense variant, coding sequence variant, stop gained
rs141755720	C>A	Drug-response	Intron variant
rs147823195	C>A,T	Drug-response	Coding sequence variant, missense variant
rs192365005	A>C,G	Drug-response	Intron variant
rs199578136	C>T	Drug-response	Missense variant, coding sequence variant
rs199676098	G>A,T	Drug-response	Missense variant, coding sequence variant
rs199779996	C>T	Drug-response	Missense variant, coding sequence variant
rs199939852	T>A	Drug-response	Intron variant
rs200120627	T>A,C	Drug-response	Intron variant
rs200490161	A>C,G	Drug-response	Synonymous variant, coding sequence variant
rs200748388	G>A	Drug-response	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs201122883	G>A	Drug-response	Missense variant, coding sequence variant
rs201249149	C>A,T	Drug-response	Missense variant, coding sequence variant
rs201280497	C>A,T	Drug-response	Missense variant, coding sequence variant
rs201609930	C>T	Drug-response	Missense variant, coding sequence variant
rs201678613	T>C	Drug-response	Missense variant, coding sequence variant
rs201725784	G>A,T	Drug-response	Missense variant, coding sequence variant
rs202013565	G>A,T	Drug-response	Intron variant
rs202026600	A>G,T	Drug-response	3 prime UTR variant
rs202180045	C>G,T	Drug-response	Intron variant
rs368096241	C>T	Drug-response	Synonymous variant, coding sequence variant
rs373236080	C>A,G,T	Drug-response	Intron variant
rs373789868	C>G,T	Drug-response	Synonymous variant, coding sequence variant
rs377260637	G>A	Drug-response	Intron variant
rs377623963	G>A,T	Drug-response	Intron variant
rs532094830	G>A,C,T	Drug-response	Synonymous variant, missense variant, coding sequence variant
rs539878014	G>A,C,T	Drug-response	Intron variant
rs547093769	A>C,G	Drug-response	Intron variant
rs549753290	G>A,T	Drug-response	3 prime UTR variant
rs565311765	C>T	Drug-response	Intron variant
rs566654614	A>G,T	Drug-response	Intron variant
rs746205498	C>A,G,T	Drug-response	Intron variant
rs746946995	G>C,T	Drug-response	Coding sequence variant, missense variant
rs749904097	A>C,G	Drug-response	3 prime UTR variant
rs750020655	C>A,T	Drug-response	Coding sequence variant, missense variant
rs751270575	G>T	Drug-response	Coding sequence variant, missense variant
rs752103700	C>T	Drug-response	Intron variant
rs753065601	C>T	Drug-response	Coding sequence variant, missense variant
rs754592414	C>T	Drug-response	Intron variant
rs755085099	C>T	Drug-response	Coding sequence variant, missense variant
rs755399685	C>T	Drug-response	Coding sequence variant, synonymous variant
rs756736504	G>A	Drug-response	Coding sequence variant, missense variant
rs756800740	C>T	Drug-response	Coding sequence variant, missense variant
rs756910860	T>A,C	Drug-response	Intron variant
rs757394498	T>C	Drug-response	Coding sequence variant, missense variant
rs758212180	A>C,T	Drug-response	Coding sequence variant, missense variant
rs758454815	A>C,G	Drug-response	Intron variant
rs758834776	C>T	Drug-response	Coding sequence variant, missense variant
rs759177745	C>G,T	Drug-response	Coding sequence variant, missense variant
rs759986853	G>A,C	Drug-response	Coding sequence variant, missense variant
rs761914266	C>A	Drug-response	Coding sequence variant, missense variant
rs762374613	A>G,T	Drug-response	Intron variant
rs762925936	T>C	Drug-response	Intron variant
rs763629745	C>G,T	Drug-response	Intron variant
rs764061195	T>G	Drug-response	Coding sequence variant, missense variant
rs764463583	G>T	Drug-response	Coding sequence variant, missense variant
rs766402999	C>T	Drug-response	Intron variant
rs768893111	C>T	Drug-response	Intron variant
rs769400173	C>G,T	Drug-response	Coding sequence variant, missense variant
rs770657790	C>T	Drug-response	Coding sequence variant, missense variant
rs773338757	C>T	Drug-response	Intron variant
rs776827328	T>C	Drug-response	Coding sequence variant, missense variant
rs778715012	C>A,T	Drug-response	Intron variant
rs779274456	G>C,T	Drug-response	Coding sequence variant, synonymous variant
rs779701045	A>G,T	Drug-response	Intron variant
rs780878256	G>A,C	Drug-response	Intron variant
rs781008688	C>-	Drug-response	3 prime UTR variant
rs887308819	C>T	Drug-response	3 prime UTR variant
rs898222211	G>A,C	Drug-response	Intron variant
rs915714963	T>C,G	Drug-response	Intron variant
rs924572540	C>T	Drug-response	Intron variant
rs928039773	C>T	Drug-response	Intron variant
rs936689901	A>G,T	Drug-response	Intron variant
rs939340150	C>T	Drug-response	Intron variant
rs949343048	A>G	Drug-response	Intron variant
rs957318449	G>A	Drug-response	Missense variant, coding sequence variant
rs962879803	A>G,T	Drug-response	Intron variant
rs982764376	T>A,C	Drug-response	Intron variant
rs987724889	T>C,G	Drug-response	Intron variant
rs989584849	C>A,T	Drug-response	Intron variant
rs1007307351	G>A,C	Drug-response	Intron variant
rs1008523470	G>A	Drug-response	Intron variant
rs1016975479	G>A,C	Drug-response	Intron variant
rs1018001117	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1027598958	G>A,C	Drug-response	Intron variant
rs1031971223	G>A	Drug-response	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, synonymous variant
rs1046963200	C>A,T	Drug-response	Intron variant
rs1049335068	A>C,G	Drug-response	Intron variant
rs1168879904	G>A,T	Drug-response	Coding sequence variant, missense variant
rs1177210906	A>C,T	Drug-response	Intron variant
rs1201355238	T>C,G	Drug-response	3 prime UTR variant
rs1209017436	T>C	Drug-response	Intron variant
rs1215218029	G>A	Drug-response	Intron variant
rs1225969541	G>A,C	Drug-response	Intron variant
rs1229084791	G>A,C	Drug-response	Intron variant
rs1229537494	C>A,T	Drug-response	Intron variant
rs1235811417	T>C,G	Drug-response	Intron variant
rs1239586220	C>A,T	Drug-response	Intron variant
rs1253462004	C>A,T	Drug-response	Coding sequence variant, missense variant
rs1255216813	C>T	Drug-response	Intron variant
rs1259527290	C>T	Drug-response	Coding sequence variant, missense variant
rs1290687132	G>A	Drug-response	Intron variant
rs1291526534	A>T	Drug-response	Intron variant
rs1292455657	C>T	Drug-response	Missense variant, coding sequence variant
rs1297328873	G>A,T	Drug-response	Coding sequence variant, stop gained, synonymous variant
rs1297599774	C>A,T	Drug-response	Intron variant
rs1306027704	G>C,T	Drug-response	Coding sequence variant, missense variant
rs1309545061	T>A,C	Drug-response	Intron variant
rs1317002705	C>A,G	Drug-response	Intron variant
rs1342363724	A>C,G	Drug-response	Intron variant
rs1347885425	GA>-	Drug-response	Intron variant
rs1353988860	C>G,T	Drug-response	Intron variant
rs1354465955	G>T	Drug-response	Intron variant
rs1368229642	C>T	Drug-response	Intron variant
rs1369339362	G>A,T	Drug-response	Intron variant
rs1370607856	C>A	Drug-response	Intron variant
rs1370696292	C>G,T	Drug-response	Intron variant
rs1372487776	C>A,T	Drug-response	Missense variant, coding sequence variant
rs1373455786	C>A,T	Drug-response	Missense variant, coding sequence variant
rs1374940464	C>G,T	Drug-response	Missense variant, coding sequence variant
rs1375773702	C>A,T	Drug-response	Coding sequence variant, synonymous variant
rs1376124155	C>A,G	Drug-response	Intron variant
rs1377795423	C>T	Drug-response	Missense variant, coding sequence variant
rs1380760525	T>C,G	Drug-response	Intron variant
rs1387659216	T>A,C	Drug-response	Intron variant
rs1403432068	G>A	Drug-response	Missense variant, coding sequence variant
rs1410758133	T>A,G	Drug-response	Intron variant
rs1414173164	G>A,C	Drug-response	3 prime UTR variant
rs1415447553	T>C,G	Drug-response	Missense variant, coding sequence variant
rs1421351917	G>A	Drug-response	Stop gained, coding sequence variant
rs1422618705	A>C,T	Drug-response	Intron variant
rs1445722698	T>A,G	Drug-response	Intron variant
rs1455949602	G>A,C	Drug-response	Synonymous variant, coding sequence variant
rs1457191518	A>G,T	Drug-response	Synonymous variant, stop gained, coding sequence variant
rs1459443271	T>C	Drug-response	Intron variant
rs1464634362	A>C,G	Drug-response	Intron variant
rs1465156359	C>G,T	Drug-response	Intron variant
rs1468049509	A>G,T	Drug-response	Intron variant
rs1472049062	C>T	Drug-response	Intron variant
rs1488249711	G>A,T	Drug-response	Intron variant
rs1563045087	C>T	Drug-response	Intron variant
rs1563063804	A>G,T	Drug-response	Intron variant
rs1563063911	C>G,T	Drug-response	Intron variant
rs1584823236	G>A	Drug-response	3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs1584823240	A>G	Drug-response	3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs1584823244	G>C	Drug-response	3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs1584823254	C>T	Drug-response	3 prime UTR variant, downstream transcript variant, genic downstream transcript variant
rs1584823290	T>G	Drug-response	3 prime UTR variant
rs1584823368	A>G	Drug-response	3 prime UTR variant
rs1584823377	A>G	Drug-response	3 prime UTR variant
rs1584823470	T>G	Drug-response	3 prime UTR variant
rs1584823473	T>A	Drug-response	3 prime UTR variant
rs1584823480	C>A	Drug-response	3 prime UTR variant
rs1584823499	G>A	Drug-response	3 prime UTR variant
rs1584823519	C>G	Drug-response	3 prime UTR variant
rs1584823531	C>T	Drug-response	3 prime UTR variant
rs1584823541	T>C	Drug-response	3 prime UTR variant
rs1584823594	C>G	Drug-response	3 prime UTR variant
rs1584823642	T>G	Drug-response	3 prime UTR variant
rs1584823651	C>G	Drug-response	3 prime UTR variant
rs1584823655	T>G	Drug-response	3 prime UTR variant
rs1584823683	T>-	Drug-response	3 prime UTR variant
rs1584823717	A>G	Drug-response	3 prime UTR variant
rs1584823745	G>A	Drug-response	Synonymous variant, coding sequence variant
rs1584823811	A>C	Drug-response	Missense variant, coding sequence variant
rs1584823866	T>C	Drug-response	Missense variant, coding sequence variant
rs1584824009	C>T	Drug-response	Missense variant, coding sequence variant
rs1584824060	A>T	Drug-response	Missense variant, coding sequence variant
rs1584824131	C>T	Drug-response	Missense variant, coding sequence variant
rs1584824153	G>T	Drug-response	Missense variant, coding sequence variant
rs1584824159	A>C	Drug-response	Missense variant, coding sequence variant
rs1584824182	A>C	Drug-response	Intron variant
rs1584826185	A>G	Drug-response	Intron variant
rs1584826310	C>T	Drug-response	Missense variant, coding sequence variant
rs1584826349	C>T	Drug-response	Missense variant, coding sequence variant
rs1584826422	T>G	Drug-response	Missense variant, coding sequence variant
rs1584826433	T>A	Drug-response	Stop gained, coding sequence variant
rs1584826485	G>A	Drug-response	Stop gained, coding sequence variant
rs1584826521	A>T	Drug-response	Synonymous variant, coding sequence variant
rs1584826524	G>A	Drug-response	Intron variant
rs1584826607	G>A	Drug-response	Intron variant
rs1584826651	T>G	Drug-response	Intron variant
rs1584829568	C>A	Drug-response	Missense variant, coding sequence variant
rs1584829602	C>T	Drug-response	Missense variant, coding sequence variant
rs1584829608	G>C	Drug-response	Missense variant, coding sequence variant
rs1584829753	C>-	Drug-response	Coding sequence variant, frameshift variant
rs1584829851	C>T	Drug-response	Intron variant
rs1584829872	C>T	Drug-response	Intron variant
rs1584834617	A>C	Drug-response	Splice donor variant
rs1584834623	A>C	Drug-response	Missense variant, coding sequence variant
rs1584834796	C>T	Drug-response	Missense variant, coding sequence variant
rs1584834848	A>C	Drug-response	Synonymous variant, coding sequence variant
rs1584834899	T>C	Drug-response	Missense variant, coding sequence variant
rs1584834930	C>T	Drug-response	Missense variant, coding sequence variant
rs1584835033	G>T	Drug-response	Synonymous variant, coding sequence variant
rs1584835130	A>C	Drug-response	Intron variant
rs1584835173	A>G	Drug-response	Intron variant
rs1584835202	C>G,T	Drug-response	Intron variant
rs1584835214	T>A	Drug-response	Intron variant
rs1584835244	T>G	Drug-response	Intron variant
rs1584836629	A>C	Drug-response	Intron variant
rs1584836644	C>A	Drug-response	Intron variant
rs1584836653	A>G	Drug-response	Intron variant
rs1584836737	C>T	Drug-response	Missense variant, coding sequence variant
rs1584840431	T>C	Drug-response	Intron variant
rs1584840436	T>A	Drug-response	Intron variant
rs1584840439	A>T	Drug-response	Intron variant
rs1584840441	G>A	Drug-response	Intron variant
rs1584840613	G>A	Drug-response	Stop gained, coding sequence variant
rs1584840650	A>G	Drug-response	Missense variant, coding sequence variant
rs1584840663	G>T	Drug-response	Intron variant
rs1584840710	G>A	Drug-response	Intron variant
rs1584841757	C>A	Drug-response	Intron variant
rs1584841967	G>A	Drug-response	Intron variant
rs1584841973	A>G	Drug-response	Intron variant
rs1584852928	A>G	Drug-response	Intron variant
rs1584852932	G>A	Drug-response	Intron variant
rs1584853136	A>C	Drug-response	Missense variant, coding sequence variant
rs1584853146	C>T	Drug-response	Missense variant, coding sequence variant
rs1584853152	A>C	Drug-response	Missense variant, coding sequence variant
rs1584857518	C>A	Drug-response	Intron variant
rs1584857539	A>T	Drug-response	Intron variant
rs1584857543	A>C	Drug-response	Intron variant
rs1584857558	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1584857640	C>T	Drug-response	Splice acceptor variant
rs1584859774	C>A	Drug-response	Intron variant
rs1584859789	G>C	Drug-response	Intron variant
rs1584859927	C>T	Drug-response	Missense variant, coding sequence variant
rs1584859968	G>C	Drug-response	Intron variant
rs1584860048	A>C	Drug-response	Intron variant
rs1584861751	C>A	Drug-response	Intron variant
rs1584861789	C>A	Drug-response	Splice donor variant
rs1584861846	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1584861940	G>A	Drug-response	Missense variant, coding sequence variant
rs1584861948	T>A	Drug-response	Missense variant, coding sequence variant
rs1584861959	C>T	Drug-response	Missense variant, coding sequence variant
rs1584861968	G>A	Drug-response	Missense variant, coding sequence variant
rs1584862080	G>A	Drug-response	Intron variant
rs1584862137	G>A	Drug-response	Intron variant
rs1584862144	C>-	Drug-response	Intron variant
rs1584862188	G>A	Drug-response	Intron variant
rs1584862195	T>-	Drug-response	Intron variant
rs1584864515	G>A	Drug-response	Intron variant
rs1584864525	A>C	Drug-response	Intron variant
rs1584864535	T>G	Drug-response	Intron variant
rs1584864540	C>A	Drug-response	Intron variant
rs1584864555	A>G	Drug-response	Intron variant
rs1584864582	G>A	Drug-response	Intron variant
rs1584864590	C>A	Drug-response	Intron variant
rs1584864714	C>T	Drug-response	Missense variant, coding sequence variant
rs1584864725	C>T	Drug-response	Missense variant, coding sequence variant
rs1584864743	T>A	Drug-response	Missense variant, coding sequence variant
rs1584864863	A>T	Drug-response	Intron variant
rs1584864874	GGA>-	Drug-response	Intron variant
rs1584864880	A>T	Drug-response	Intron variant
rs1584864890	C>A	Drug-response	Intron variant
rs1584864923	T>C	Drug-response	Intron variant
rs1584865238	C>A	Drug-response	Intron variant
rs1584865310	A>C	Drug-response	Intron variant
rs1584865377	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1584865847	A>-	Drug-response	Intron variant
rs1584866513	A>G	Drug-response	Intron variant
rs1584866517	T>C	Drug-response	Intron variant
rs1584866531	A>G	Drug-response	Intron variant
rs1584866539	T>C	Drug-response	Intron variant
rs1584866716	T>C	Drug-response	Missense variant, coding sequence variant
rs1584866897	T>-	Drug-response	Intron variant
rs1584867527	T>G	Drug-response	Intron variant
rs1584867530	A>C	Drug-response	Intron variant
rs1584867532	C>A	Drug-response	Intron variant
rs1584867557	A>C	Drug-response	Intron variant
rs1584870154	A>G	Drug-response	Intron variant
rs1584870236	A>T	Drug-response	Intron variant
rs1584870326	A>C	Drug-response	Missense variant, coding sequence variant
rs1584870462	C>T	Drug-response	Missense variant, coding sequence variant
rs1584870522	C>T	Drug-response	Missense variant, coding sequence variant
rs1584870562	C>T	Drug-response	Missense variant, coding sequence variant
rs1584870588	A>G	Drug-response	Intron variant
rs1584870644	A>T	Drug-response	Intron variant
rs1584870717	G>T	Drug-response	Intron variant
rs1584870734	C>T	Drug-response	Intron variant
rs1584870737	T>A	Drug-response	Intron variant
rs1584870744	A>T	Drug-response	Intron variant
rs1584870801	C>T	Drug-response	Intron variant
rs1584870839	A>-	Drug-response	Intron variant
rs1584871120	G>T	Drug-response	Missense variant, coding sequence variant
rs1584871159	C>T	Drug-response	Missense variant, coding sequence variant
rs1584871252	C>-	Drug-response	Intron variant
rs1584871266	TG>-	Drug-response	Intron variant
rs1584871277	C>A	Drug-response	Intron variant
rs1584871295	G>A	Drug-response	Intron variant
rs1584871312	A>G	Drug-response	Intron variant
rs1584871355	G>A	Drug-response	Intron variant
rs1584871437	C>G	Drug-response	Missense variant, coding sequence variant
rs1584871479	T>C	Drug-response	Synonymous variant, coding sequence variant
rs1584871482	G>A	Drug-response	Synonymous variant, coding sequence variant
rs1584871494	T>G	Drug-response	Missense variant, coding sequence variant
rs1584871513	C>A	Drug-response	Missense variant, coding sequence variant
rs1584871572	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1584871577	C>T	Drug-response	Missense variant, coding sequence variant
rs1584871582	T>C	Drug-response	Missense variant, coding sequence variant
rs1584871639	T>A	Drug-response	Missense variant, coding sequence variant
rs1584871672	G>A	Drug-response	Intron variant
rs1584871701	A>T	Drug-response	Intron variant
rs1584871706	G>A	Drug-response	Intron variant
rs1584871734	T>G	Drug-response	Intron variant
rs1584871788	C>T	Drug-response	Intron variant
rs1584871842	T>C	Drug-response	Missense variant, coding sequence variant
rs1584871861	G>A	Drug-response	Stop gained, coding sequence variant
rs1584871933	A>T	Drug-response	Synonymous variant, coding sequence variant
rs1584871947	A>T	Drug-response	Missense variant, coding sequence variant
rs1584871955	G>A	Drug-response	Missense variant, coding sequence variant
rs1584872123	C>T	Drug-response	Intron variant
rs1584872136	A>-	Drug-response	Intron variant
rs1584872141	G>T	Drug-response	Intron variant
rs1584872146	G>-	Drug-response	Intron variant
rs1584872159	A>G	Drug-response	Intron variant
rs1584872191	A>T	Drug-response	Intron variant
rs1584872207	G>A	Drug-response	Intron variant
rs1584872301	A>T	Drug-response	Missense variant, coding sequence variant
rs1584872342	T>G	Drug-response	Synonymous variant, coding sequence variant
rs1584872360	C>-	Drug-response	Coding sequence variant, frameshift variant
rs1584872372	C>T	Drug-response	Missense variant, coding sequence variant
rs1584872523	A>-	Drug-response	Intron variant
rs1584875156	T>G	Drug-response	Intron variant
rs1584875166	T>C	Drug-response	Intron variant
rs1584875299	C>T	Drug-response	Missense variant, coding sequence variant
rs1584875420	A>T	Drug-response	Missense variant, coding sequence variant
rs1584875429	C>T	Drug-response	Missense variant, coding sequence variant
rs1584875546	T>G	Drug-response	Intron variant
rs1584875572	G>A	Drug-response	Intron variant
rs1584875617	A>G	Drug-response	Intron variant
rs1584875679	G>A	Drug-response	Intron variant
rs1584875690	C>-	Drug-response	Intron variant
rs1584875732	G>A	Drug-response	Intron variant
rs1584875845	A>C	Drug-response	Intron variant
rs1584876051	G>A	Drug-response	Intron variant
rs1584876122	G>T	Drug-response	Intron variant
rs1584876165	T>A	Drug-response	Intron variant
rs1584876196	T>C	Drug-response	Intron variant
rs1584876204	G>T	Drug-response	Intron variant
rs1584876354	A>C	Drug-response	Intron variant
rs1584880914	G>A	Drug-response	Intron variant
rs1584880919	T>C	Drug-response	Intron variant
rs1584881029	C>G	Drug-response	Intron variant
rs1584881050	A>C	Drug-response	Intron variant
rs1584881055	T>A	Drug-response	Intron variant
rs1584881535	G>C	Drug-response	Intron variant
rs1584881586	A>-	Drug-response	Intron variant
rs1584881633	C>T	Drug-response	Missense variant, coding sequence variant
rs1584881689	A>C	Drug-response	Missense variant, coding sequence variant
rs1584881716	A>G	Drug-response	Synonymous variant, coding sequence variant
rs1584881721	C>T	Drug-response	Missense variant, coding sequence variant
rs1584882616	T>C	Drug-response	Intron variant
rs1584882620	C>T	Drug-response	Intron variant
rs1584882625	T>C	Drug-response	Intron variant
rs1584882718	C>A	Drug-response	Intron variant
rs1584882723	A>T	Drug-response	Intron variant
rs1584885500	A>G	Drug-response	Intron variant
rs1584885509	T>C	Drug-response	Intron variant
rs1584885551	A>C	Drug-response	Intron variant
rs1584885852	G>A	Drug-response	Intron variant
rs1584885927	C>T	Drug-response	Intron variant
rs1584886037	C>T	Drug-response	Missense variant, coding sequence variant
rs1584886062	C>T	Drug-response	Missense variant, coding sequence variant
rs1584886072	A>C	Drug-response	Missense variant, coding sequence variant
rs1584886173	A>G	Drug-response	Intron variant
rs1584886228	A>G	Drug-response	Intron variant
rs1584886384	T>A	Drug-response	Intron variant
rs1584886392	T>C	Drug-response	Intron variant
rs1584886492	C>T	Drug-response	Intron variant
rs1584886587	T>-	Drug-response	Intron variant
rs1584886661	C>T	Drug-response	Intron variant
rs1584886694	G>-	Drug-response	Coding sequence variant, frameshift variant
rs1584886735	A>T	Drug-response	Synonymous variant, coding sequence variant
rs1584886768	C>T	Drug-response	Missense variant, coding sequence variant
rs1584886787	C>-	Drug-response	Coding sequence variant, frameshift variant
rs1584886875	C>A	Drug-response	Synonymous variant, coding sequence variant
rs1584886962	T>A	Drug-response	Missense variant, coding sequence variant
rs1584886995	A>-	Drug-response	Intron variant
rs1584887050	C>A	Drug-response	Intron variant
rs1584887226	G>A	Drug-response	Intron variant
rs1584887273	A>T	Drug-response	Intron variant
rs1584887296	G>T	Drug-response	Intron variant
rs1584887312	A>T	Drug-response	Intron variant
rs1584887315	A>G,T	Drug-response	Intron variant
rs1584887330	A>T	Drug-response	Intron variant
rs1584887344	C>-	Drug-response	Intron variant
rs1584887358	A>-	Drug-response	Intron variant
rs1584887366	T>-	Drug-response	Intron variant
rs1584889692	G>A	Drug-response	Intron variant
rs1584889697	G>T	Drug-response	Intron variant
rs1584889701	C>T	Drug-response	Intron variant
rs1584889708	C>A	Drug-response	Intron variant
rs1584889711	A>T	Drug-response	Intron variant
rs1584889722	A>C	Drug-response	Intron variant
rs1584889733	T>G	Drug-response	Intron variant
rs1584889745	A>C	Drug-response	Intron variant
rs1584889754	C>T	Drug-response	Intron variant
rs1584889859	G>T	Drug-response	Intron variant
rs1584889905	A>G	Drug-response	Intron variant
rs1584889940	C>A	Drug-response	Intron variant
rs1584889961	T>G	Drug-response	Intron variant
rs1584890095	C>A	Drug-response	Stop gained, coding sequence variant
rs1584890130	G>A	Drug-response	Missense variant, coding sequence variant
rs1584890268	G>A	Drug-response	Intron variant
rs1584890282	A>G	Drug-response	Intron variant
rs1584890294	G>A	Drug-response	Intron variant
rs1584901639	A>C	Drug-response	Intron variant
rs1584901651	A>G	Drug-response	Intron variant
rs1584901654	A>C	Drug-response	Intron variant
rs1584901803	C>-	Drug-response	Intron variant
rs1584901860	C>T	Drug-response	Intron variant
rs1584901891	T>C	Drug-response	Intron variant
rs1584901896	G>A	Drug-response	Intron variant
rs1584901920	G>T	Drug-response	Intron variant
rs1584901951	A>T	Drug-response	Intron variant
rs1584901984	T>C	Drug-response	Intron variant
rs1584901992	T>C	Drug-response	Intron variant
rs1584901996	A>G	Drug-response	Intron variant
rs1584902000	G>C	Drug-response	Intron variant
rs1584902074	T>C	Drug-response	Intron variant
rs1584902150	C>A	Drug-response	Intron variant
rs1584902180	A>G	Drug-response	Intron variant
rs1584902204	G>A	Drug-response	Intron variant
rs1584902218	G>T	Drug-response	Intron variant
rs1584902264	T>-	Drug-response	Intron variant
rs1584902271	C>T	Drug-response	Intron variant
rs1584902336	C>T	Drug-response	Missense variant, coding sequence variant
rs1584902348	C>T	Drug-response	Synonymous variant, coding sequence variant
rs1584902369	C>T	Drug-response	Missense variant, coding sequence variant
rs1584902411	AG>-	Drug-response	Coding sequence variant, frameshift variant
rs1584902425	G>A	Drug-response	Missense variant, coding sequence variant
rs1584902437	C>A	Drug-response	Missense variant, coding sequence variant
rs1584902466	C>-	Drug-response	Coding sequence variant, frameshift variant
rs1584902579	A>G	Drug-response	Synonymous variant, coding sequence variant
rs1584902591	A>-	Drug-response	Intron variant
rs1584902609	A>-	Drug-response	Intron variant
rs1584902619	G>-	Drug-response	Intron variant
rs1584902756	A>T	Drug-response	Intron variant
rs1584910469	A>G	Drug-response	Intron variant
rs1584910473	G>A	Drug-response	Intron variant
rs1584910478	T>C	Drug-response	Intron variant
rs1584910554	C>T	Drug-response	Intron variant
rs1584910566	A>T	Drug-response	Intron variant
rs1584910621	C>G	Drug-response	Intron variant
rs1584910858	C>G	Drug-response	Intron variant
rs1584910872	T>G	Drug-response	Intron variant
rs1584910875	T>C	Drug-response	Intron variant
rs1584910879	A>C	Drug-response	Intron variant
rs1584910893	T>A	Drug-response	Intron variant
rs1584910898	T>A	Drug-response	Intron variant
rs1584910901	G>T	Drug-response	Intron variant
rs1584910904	T>A	Drug-response	Intron variant
rs1584910912	T>A	Drug-response	Intron variant
rs1584910920	T>A,C	Drug-response	Intron variant
rs1584910934	C>T	Drug-response	Intron variant
rs1584910945	T>C	Drug-response	Intron variant
rs1584910949	C>T	Drug-response	Intron variant
rs1584910952	T>C	Drug-response	Intron variant
rs1584910957	C>T	Drug-response	Intron variant
rs1584910973	C>T	Drug-response	Intron variant
rs1584911001	T>C	Drug-response	Intron variant
rs1584911038	C>-	Drug-response	Intron variant
rs1584911058	G>C	Drug-response	Intron variant
rs1584911161	A>C	Drug-response	Missense variant, coding sequence variant
rs1584911169	A>T	Drug-response	Synonymous variant, coding sequence variant
rs1584911173	G>A	Drug-response	Missense variant, coding sequence variant
rs1584911190	C>-	Drug-response	Coding sequence variant, frameshift variant
rs1584911230	A>C	Drug-response	Intron variant
rs1584911242	A>C	Drug-response	Intron variant
rs1584911245	A>C	Drug-response	Intron variant
rs1584911250	A>C	Drug-response	Intron variant
rs1584911254	A>C	Drug-response	Intron variant
rs1584911259	A>C	Drug-response	Intron variant
rs1584911271	A>C	Drug-response	Intron variant
rs1584911278	A>C	Drug-response	Intron variant
rs1584911288	A>C	Drug-response	Intron variant
rs1584911315	A>T	Drug-response	Intron variant
rs1584911850	A>G	Drug-response	Intron variant
rs1584911855	A>G	Drug-response	Intron variant
rs1584911860	C>T	Drug-response	Intron variant
rs1584911866	T>C	Drug-response	Intron variant
rs1584911872	G>A	Drug-response	Intron variant
rs1584911877	C>T	Drug-response	Intron variant
rs1584912048	C>G	Drug-response	Intron variant
rs1584913947	T>G	Drug-response	Intron variant
rs1584913955	T>A	Drug-response	Intron variant
rs1584913959	G>A	Drug-response	Intron variant
rs1584913965	A>T	Drug-response	Intron variant
rs1584913986	A>T	Drug-response	Intron variant
rs1584914074	G>T	Drug-response	Intron variant
rs1584914222	T>A	Drug-response	Intron variant
rs1584914264	A>T	Drug-response	Intron variant
rs1584914268	A>C	Drug-response	Intron variant
rs1584914270	A>G	Drug-response	Intron variant
rs1584914289	C>T	Drug-response	Splice donor variant
rs1584914478	T>G	Drug-response	Intron variant
rs1584914521	G>T	Drug-response	Intron variant
rs1584914617	G>A	Drug-response	Intron variant
rs1584914629	G>A	Drug-response	Intron variant
rs1584914719	T>G	Drug-response	Intron variant
rs1584914842	T>G	Drug-response	Intron variant
rs1584914908	T>C	Drug-response	Intron variant
rs1584914912	T>C	Drug-response	Intron variant
rs1584914920	C>T	Drug-response	Intron variant
rs1584914926	T>C	Drug-response	Intron variant
rs1584914929	A>G	Drug-response	Intron variant
rs1584914931	G>A	Drug-response	Intron variant
rs1584914953	T>C	Drug-response	Intron variant
rs1584914976	C>T	Drug-response	Intron variant
rs1584915016	G>A	Drug-response	Intron variant
rs1584915038	G>A	Drug-response	Intron variant
rs1584915041	G>A	Drug-response	Intron variant
rs1584915050	T>A	Drug-response	5 prime UTR variant, missense variant, coding sequence variant
rs1584915094	A>C	Drug-response	5 prime UTR variant, intron variant
rs1584915124	C>T	Drug-response	5 prime UTR variant, intron variant
rs1584915134	C>A	Drug-response	5 prime UTR variant, intron variant
rs1584915145	A>G	Drug-response	5 prime UTR variant, intron variant
rs1584915173	T>C	Drug-response	5 prime UTR variant, intron variant
rs1584915238	G>A	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915251	C>T	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915278	C>T	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915282	G>T	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915287	C>T	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915300	C>T	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915306	G>A	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915309	C>T	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915313	A>T	Drug-response	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant
rs1584915332	A>G	Drug-response	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915353	G>A	Drug-response	Synonymous variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915357	G>A	Drug-response	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915362	C>A	Drug-response	Stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915370	G>A	Drug-response	Synonymous variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915387	G>A	Drug-response	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915392	G>A	Drug-response	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915394	G>A	Drug-response	Stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915409	G>A	Drug-response	Synonymous variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1584915415	G>A	Drug-response	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant

miRNA Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005656	hsa-miR-451a	qRT-PCR, Luciferase reporter assay, Western blot	18645025
MIRT054152	hsa-miR-129-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25344911
MIRT054152	hsa-miR-129-5p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25344911
MIRT054158	hsa-miR-508-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23893241
MIRT054158	hsa-miR-508-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23893241
MIRT438673	hsa-miR-223-3p	GFP reporter assay, qRT-PCR, Western blot	23925649
MIRT438673	hsa-miR-223-3p	GFP reporter assay, qRT-PCR, Western blot	23925649
MIRT438673	hsa-miR-223-3p	GFP reporter assay, qRT-PCR, Western blot	23925649
MIRT438673	hsa-miR-223-3p	GFP reporter assay, qRT-PCR, Western blot	23925649
MIRT731564	hsa-miR-186-5p	Luciferase reporter assay	26626440
MIRT731564	hsa-miR-186-5p	Luciferase reporter assay	26626440
MIRT054152	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR, Western blot	28012924
MIRT054152	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR, Western blot	28012924
MIRT733751	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32095078
MIRT733751	hsa-miR-214-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32095078
MIRT755917	hsa-miR-224-5p	Luciferase reporter assay, Western blotting, qRT-PCR	35426328
MIRT758129	hsa-miR-223	CLIP-seq
MIRT758130	hsa-miR-3153	CLIP-seq
MIRT758131	hsa-miR-455-3p	CLIP-seq
MIRT758132	hsa-miR-4668-5p	CLIP-seq
MIRT758133	hsa-miR-582-5p	CLIP-seq
MIRT758134	hsa-miR-935	CLIP-seq

Transcription factors Show/Hide all (40)

Transcription factor	Regulation	Reference
CDX2	Unknown	20699370
CEBPB	Activation	15044620
E2F1	Activation	23542036
EAPP	Activation	23542036
EGR1	Activation	11488907;7565762
EGR1	Unknown	10392899;10860921
EP300	Unknown	22154511
ETS1	Activation	20392592
HDAC1	Repression	19435809;20037778
HDAC1	Unknown	20037778
HIF1A	Repression	12067980
HIPK2	Unknown	20646448
HSF1	Unknown	10816597
JUN	Activation	10369069
MBD1	Unknown	17667922
MECP2	Unknown	11865062
MYCN	Repression	7923112
NFKB1	Activation	19763573
NFKB1	Repression	12527911
NFKB1	Unknown	18234965
NFYA	Unknown	18234965;22154511
NFYB	Unknown	18234965
NFYC	Unknown	18234965
NR1I2	Activation	18540626
PITX2	Unknown	23354914
RELA	Activation	19763573
RELA	Unknown	18234965
SIRT1	Activation	20713551
SP1	Activation	10644769;7565762
SP1	Unknown	10860921;8103518
TCF4	Activation	20459685
TCF7L2	Unknown	10987283
TP53	Repression	10029407
TP53	Unknown	18234965
UHRF1	Repression	20037778
WT1	Unknown	10392899;10860921
YBX1	Activation	10644769
YBX1	Repression	17072343
YBX1	Unknown	18234965
ZNRD1	Activation	16373708

Gene ontology (GO) Show/Hide all (123)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IDA	19384922
GO:0000166	Function	Nucleotide binding	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001890	Process	Placenta development	IEA
GO:0005515	Function	Protein binding	IPI	17088979, 20711237
GO:0005524	Function	ATP binding	IDA	28757552, 29371429
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	3768958
GO:0005737	Component	Cytoplasm	IDA	35970996
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	18619525, 23137377, 35970996
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0007595	Process	Lactation	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IDA	26850595, 28757552
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IGI	23893241, 28260112
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	28411377
GO:0008559	Function	ABC-type xenobiotic transporter activity	TAS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009410	Process	Response to xenobiotic stimulus	TAS	3022150
GO:0009914	Process	Hormone transport	IEA
GO:0009986	Component	Cell surface	IDA	19384922
GO:0010046	Process	Response to mycotoxin	IEA
GO:0015562	Function	Efflux transmembrane transporter activity	IDA	26850595, 28587984, 28757552
GO:0015562	Function	Efflux transmembrane transporter activity	IGI	23893241, 28260112
GO:0015562	Function	Efflux transmembrane transporter activity	IMP	25986174, 28411377
GO:0016020	Component	Membrane	IDA	26006083
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	3022150, 3768958
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	8898203, 16361082, 28408210, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022857	Function	Transmembrane transporter activity	ISS
GO:0031526	Component	Brush border membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	26006083
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0033280	Process	Response to vitamin D	IEA
GO:0033762	Process	Response to glucagon	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	IEA
GO:0036146	Process	Cellular response to mycotoxin	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	28757552
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS	3022150
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IBA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	28587984, 28757552
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IMP	25986174
GO:0043215	Process	Daunorubicin transport	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	IDA	8898203
GO:0045332	Process	Phospholipid translocation	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046865	Process	Terpenoid transport	ISS
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IMP	25986174
GO:0050892	Process	Intestinal absorption	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070633	Process	Transepithelial transport	IDA	28757552
GO:0070633	Process	Transepithelial transport	IMP	25986174
GO:0071217	Process	Cellular response to external biotic stimulus	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071236	Process	Cellular response to antibiotic	IEA
GO:0071312	Process	Cellular response to alkaloid	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0071475	Process	Cellular hyperosmotic salinity response	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0072089	Process	Stem cell proliferation	IMP	19384922
GO:0090554	Function	Phosphatidylcholine floppase activity	IBA
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	8898203
GO:0090554	Function	Phosphatidylcholine floppase activity	IEA
GO:0090555	Function	Phosphatidylethanolamine flippase activity	IDA	8898203
GO:0097068	Process	Response to thyroxine	IEA
GO:0097305	Process	Response to alcohol	IEA
GO:0097327	Process	Response to antineoplastic agent	IEA
GO:0098591	Component	External side of apical plasma membrane	ISS	18619525
GO:0099038	Function	Ceramide floppase activity	IDA	8898203
GO:0099040	Process	Ceramide translocation	IBA
GO:0099040	Process	Ceramide translocation	IDA	8898203
GO:0140115	Process	Export across plasma membrane	IDA	28587984
GO:0140115	Process	Export across plasma membrane	IMP	25986174
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140328	Function	Floppase activity	IMP	8898203
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1902065	Process	Response to L-glutamate	IEA
GO:1902396	Process	Protein localization to bicellular tight junction	IEA
GO:1903416	Process	Response to glycoside	IEA
GO:1904057	Process	Negative regulation of sensory perception of pain	IEA
GO:1904148	Process	Cellular response to nonylphenol	IEA
GO:1904446	Process	Positive regulation of establishment of Sertoli cell barrier	IEA
GO:1904478	Process	Regulation of intestinal absorption	IEA
GO:1905039	Process	Carboxylic acid transmembrane transport	IMP	25986174
GO:1905231	Process	Cellular response to borneol	IEA
GO:1905232	Process	Cellular response to L-glutamate	IEA
GO:1905233	Process	Response to codeine	IEA
GO:1905235	Process	Response to quercetin	IEA
GO:1905237	Process	Response to cyclosporin A	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IDA	26850595
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IGI	23893241
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IMP	28260112, 28411377
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	TAS	25344911
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IC	28757552
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IEA
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IMP	25986174
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	ISS	28587984
GO:1990963	Process	Establishment of blood-retinal barrier	IEA
GO:2001025	Process	Positive regulation of response to drug	IEA
GO:2001225	Process	Regulation of chloride transport	IMP	7828597

Other IDs

• MIM: 171050
• HGNC: 40
• e!Ensembl: ENSG00000085563

Protein

• UniProt ID: P08183
• Protein name: ATP-dependent translocase ABCB1 (ATP-binding cassette sub-family B member 1) (Multidrug resistance protein 1) (EC 7.6.2.2) (P-glycoprotein 1) (Phospholipid transporter ABCB1) (EC 7.6.2.1) (CD antigen CD243)
• Protein function: Translocates drugs and phospholipids across the membrane (PubMed:2897240, PubMed:35970996, PubMed:8898203, PubMed:9038218, PubMed:35507548). Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membran
• PDB: 6C0V , 6FN1 , 6FN4 , 6QEX , 7A65 , 7A69 , 7A6C , 7A6E , 7A6F , 7O9W , 8Y6H , 8Y6I , 9CR8 , 9CTC , 9CTF , 9CTG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	51 → 343	ABC transporter transmembrane region	Family
  PF00664	ABC_membrane	711 → 986	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	410 → 559	ABC transporter	Domain
  PF00005	ABC_tran	1053 → 1204	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in small intestine (PubMed:28408210). Expressed in liver, kidney and brain. {ECO:0000269|PubMed:28408210}.
• Sequence:

  MDLEGDRNGGAKKKNFFKLNNKSEKDKKEKKPTVSVFSMFRYSNWLDKLYMVVGTLAAII
  HGAGLPLMMLVFGEMTDIFANAGNLEDLMSNITNRSDINDTGFFMNLEEDMTRYAYYYSG
  IGAGVLVAAYIQVSFWCLAAGRQIHKIRKQFFHAIMRQEIGWFDVHDVGELNTRLTDDVS
  KINEGIGDKIGMFFQSMATFFTGFIVGFTRGWKLTLVILAISPVLGLSAAVWAKILSSFT
  DKELLAYAKAGAVAEEVLAAIRTVIAFGGQKKELERYNKNLEEAKRIGIKKAITANISIG
  AAFLLIYASYALAFWYGTTLVLSGEYSIGQVLTVFFSVLIGAFSVGQASPSIEAFANARG
  AAYEIFKIIDNKPSIDSYSKSGHKPDNIKGNLEFRNVHFSYPSRKEVKILKGLNLKVQSG
  QTVALVGNSGCGKSTTVQLMQRLYDPTEGMVSVDGQDIRTINVRFLREIIGVVSQEPVLF
  ATTIAENIRYGRENVTMDEIEKAVKEANAYDFIMKLPHKFDTLVGERGAQLSGGQKQRIA
  IARALVRNPKILLLDEATSALDTESEAVVQVALDKARKGRTTIVIAHRLSTVRNADVIAG
  FDDGVIVEKGNHDELMKEKGIYFKLVTMQTAGNEVELENAADESKSEIDALEMSSNDSRS
  SLIRKRSTRRSVRGSQAQDRKLSTKEALDESIPPVSFWRIMKLNLTEWPYFVVGVFCAII
  NGGLQPAFAIIFSKIIGVFTRIDDPETKRQNSNLFSLLFLALGIISFITFFLQGFTFGKA
  GEILTKRLRYMVFRSMLRQDVSWFDDPKNTTGALTTRLANDAAQVKGAIGSRLAVITQNI
  ANLGTGIIISFIYGWQLTLLLLAIVPIIAIAGVVEMKMLSGQALKDKKELEGSGKIATEA
  IENFRTVVSLTQEQKFEHMYAQSLQVPYRNSLRKAHIFGITFSFTQAMMYFSYAGCFRFG
  AYLVAHKLMSFEDVLLVFSAVVFGAMAVGQVSSFAPDYAKAKISAAHIIMIIEKTPLIDS
  YSTEGLMPNTLEGNVTFGEVVFNYPTRPDIPVLQGLSLEVKKGQTLALVGSSGCGKSTVV
  QLLERFYDPLAGKVLLDGKEIKRLNVQWLRAHLGIVSQEPILFDCSIAENIAYGDNSRVV
  SQEEIVRAAKEANIHAFIESLPNKYSTKVGDKGTQLSGGQKQRIAIARALVRQPHILLLD
  EATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEHGTHQQL
  LAQKGIYFSMVSVQAGTKRQ

• Sequence length: 1280

Pathways

KEGG Pathway	Reactome Pathway
ABC transporters	ABC-family proteins mediated transport
Bile secretion
MicroRNAs in cancer
Gastric cancer

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
COLCHICINE RESISTANCE	Pathogenic	rs1128501	RCV000014697	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic generalized epilepsy	Likely pathogenic	rs2117129739	RCV001509550	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (81)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ABCB1-related disorder	Benign; Likely benign; drug response; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTISOCIAL PERSONALITY DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	20080907, 22104130	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASEPTIC NECROSIS OF HEAD AND/OR NECK OF FEMUR	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC RHINITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF BONE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	22311042	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS ABUSE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	21332314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	17510421	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	20627363	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	34651315, 37965154, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	22294766, 23977225	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOGLOBULINEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	19570321, 8001500	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	21332314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL MEDITERRANEAN FEVER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM	—	GWAS catalog	28274756	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	34651315	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	22311042	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	23874772	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC NEOPLASMS	—	CTD	22311042	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	drug response	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPITUITARISM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION, ORTHOSTATIC	—	CTD, Disgenet CTD, Disgenet	12082591	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease 13	Uncertain significance; Benign	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	35977952	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY NEOPLASMS	—	CTD	22311042	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	40069456	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	21325069	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MDR1 POLYMORPHISM	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAUSEA	—	CTD	21840870	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	17015054, 21064136	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	8761367	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	CTD, Disgenet CTD, Disgenet	16950614, 25007187	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS OF MEDIAL FEMORAL CONDYLE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	20558393	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, SECONDARY	—	CTD	26457621	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	16950614	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	26198764, 32606422, 35396580, 39753749	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY PARKINSON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	25275603	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tramadol response	Benign; Conflicting classifications of pathogenicity; drug response; Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (811)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	28714181		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	19784880, 20801494, 20801498, 23148794, 25542807, 29936693, 31778598		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1673636, 17852455, 2202383, 29990841		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10198619, 10500774, 10500786, 10897123, 11185984, 12028995, 1283551, 1380280, 16522547, 16614510, 18271955, 1859877, 18702870, 19635183, 21133625, 22037714, 22664042, 24804815, 2564311, 25921280, 27706688, 7808005, 8100604, 8477061, 8528050, 8535665, 8574159, 8632662, 8704189, 9150348, 9886170		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10897123, 11323101, 11531016, 11801309, 11849207, 11964305, 12028995, 12410571, 12691146, 12780787, 1283551, 12851703, 14618619, 14712291, 15102684, 15543372, 16206189, 16522547, 16849280, 17875533, 18243305, 18385010, 19317599, 19352661, 19467705, 19564743, 1972761, 20423567, 21133625, 21509569, 22037714, 23244145, 24142546, 24324065, 24434428, 25482933, 2562856, 25661341, 2765667, 27960630, 29377275, 30176891, 30508724, 30535484, 30598629, 31046876, 7642465, 7694687, 7808005, 7905944, 7910222, 7914748, 8075575, 8097634, 8528050, 9150348, 9490695, 9671132, 9886170		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	8528062		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10214864, 10233413, 10374860, 10500779, 10500792, 11301107, 11986944, 12010657, 1283551, 12926083, 15109536, 15217827, 17038891, 18001833, 19288261, 25155901, 27821506, 29469608, 30674943, 8891227, 9368475		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	10602414		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	10500792		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	10602414		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ABCB4 7 shared diseasesCholecystolithiasis, Colorectal neoplasms, Gallbladder neoplasms, Gallstones, Gastrointestinal disease, Intrahepatic cholestasis of pregnancy, Liver disease 3 shared pathwaysABC transporters, Bile secretion, ABC-family proteins mediated transport 7 shared evidence sourcesGWAS catalog (Cholecystolithiasis), CTD (Colorectal neoplasms), GWAS catalog (Gallbladder neoplasms), GWAS catalog (Gallstones), GWAS catalog (Gastrointestinal disease), GWAS catalog (Intrahepatic cholestasis of pregnancy), GWAS catalog (Liver disease) Related via 7 shared diseases including Cholecystolithiasis, Colorectal neoplasms — evidence mostly GWAS catalog. ABCC2 6 shared diseasesCardiomyopathy, Colorectal neoplasms, Gastrointestinal disease, Heart disease, Nervous system disease, Status epilepticus 3 shared pathwaysABC transporters, Bile secretion, ABC-family proteins mediated transport 9 shared evidence sourcesCTD (Rheumatoid arthritis), CTD (Squamous cell carcinoma), Disgenet (Cardiomyopathy), CTD (Colorectal neoplasms), Disgenet (Heart disease), CTD (Nervous system disease), Disgenet (Nervous system disease), Disgenet (Rheumatoid arthritis), Disgenet (Status epilepticus) Related via 6 shared diseases including Cardiomyopathy, Colorectal neoplasms — evidence mostly Disgenet. ABCG8 7 shared diseasesCholecystolithiasis, Hyperlipidemia, Hyperlipoproteinemia, Gallstones, Heart disease, Intrahepatic cholestasis of pregnancy, Liver disease 2 shared pathwaysABC transporters, Bile secretion 6 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones), Disgenet (Hyperlipidemia), Disgenet (Hyperlipoproteinemia), GWAS catalog (Intrahepatic cholestasis of pregnancy), GWAS catalog (Liver disease) Related via 7 shared diseases including Cholecystolithiasis, Hyperlipidemia — evidence mostly GWAS catalog. ABCC4 2 shared diseasesColorectal neoplasms, Psychotic disorders 3 shared pathwaysABC transporters, Bile secretion, ABC-family proteins mediated transport 3 shared evidence sourcesCTD (Rheumatoid arthritis), CTD (Colorectal neoplasms), Disgenet (Rheumatoid arthritis) Related via 3 shared pathways including ABC transporters, Bile secretion — evidence mostly CTD. ABCC1 5 shared diseasesColorectal neoplasms, Heart disease, Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 2 shared pathwaysABC transporters, ABC-family proteins mediated transport 6 shared evidence sourcesCTD (Squamous cell carcinoma), CTD (Colorectal neoplasms), Disgenet (Heart disease), Disgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 5 shared diseases including Colorectal neoplasms, Heart disease — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ABCB4	7	["Cholecystolithiasis","Colorectal neoplasms","Gallbladder neoplasms","Gallstones","Gastrointestinal disease","Intrahepatic cholestasis of pregnancy","Liver disease"]	3	["ABC transporters","Bile secretion","ABC-family proteins mediated transport"]	7	["GWAS catalog (Cholecystolithiasis)","CTD (Colorectal neoplasms)","GWAS catalog (Gallbladder neoplasms)","GWAS catalog (Gallstones)","GWAS catalog (Gastrointestinal disease)","GWAS catalog (Intrahepatic cholestasis of pregnancy)","GWAS catalog (Liver disease)"]
ABCC2	6	["Cardiomyopathy","Colorectal neoplasms","Gastrointestinal disease","Heart disease","Nervous system disease","Status epilepticus"]	3	["ABC transporters","Bile secretion","ABC-family proteins mediated transport"]	9	["CTD (Rheumatoid arthritis)","CTD (Squamous cell carcinoma)","Disgenet (Cardiomyopathy)","CTD (Colorectal neoplasms)","Disgenet (Heart disease)","CTD (Nervous system disease)","Disgenet (Nervous system disease)","Disgenet (Rheumatoid arthritis)","Disgenet (Status epilepticus)"]
ABCG8	7	["Cholecystolithiasis","Hyperlipidemia","Hyperlipoproteinemia","Gallstones","Heart disease","Intrahepatic cholestasis of pregnancy","Liver disease"]	2	["ABC transporters","Bile secretion"]	6	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)","Disgenet (Hyperlipidemia)","Disgenet (Hyperlipoproteinemia)","GWAS catalog (Intrahepatic cholestasis of pregnancy)","GWAS catalog (Liver disease)"]
ABCC4	2	["Colorectal neoplasms","Psychotic disorders"]	3	["ABC transporters","Bile secretion","ABC-family proteins mediated transport"]	3	["CTD (Rheumatoid arthritis)","CTD (Colorectal neoplasms)","Disgenet (Rheumatoid arthritis)"]
ABCC1	5	["Colorectal neoplasms","Heart disease","Non-neoplastic peripheral nervous system disease","Peripheral nervous system disease","Peripheral neuropathy"]	2	["ABC transporters","ABC-family proteins mediated transport"]	6	["CTD (Squamous cell carcinoma)","CTD (Colorectal neoplasms)","Disgenet (Heart disease)","Disgenet (Non-neoplastic peripheral nervous system disease)","CTD (Peripheral nervous system disease)","Disgenet (Peripheral neuropathy)"]

Diseases Linked via Similar Genes

Biliary cirrhosis Linked via 2 of 5 related genesABCB4, ABCC2 Cholelithiasis Linked via 2 of 5 related genesABCB4, ABCC2 Gallbladder disease Linked via 2 of 5 related genesABCB4, ABCG8 Liver cirrhosis Linked via 2 of 5 related genesABCB4, ABCC2 Nonalcoholic fatty liver disease Linked via 2 of 5 related genesABCB4, ABCC2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Biliary cirrhosis	2	["ABCB4","ABCC2"]
Cholelithiasis	2	["ABCB4","ABCC2"]
Gallbladder disease	2	["ABCB4","ABCG8"]
Liver cirrhosis	2	["ABCB4","ABCC2"]
Nonalcoholic fatty liver disease	2	["ABCB4","ABCC2"]