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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5205
Gene name	ATPase phospholipid transporting 8B1
Gene symbol	ATP8B1
Synonyms (NCBI Gene)	ATPICBRICFIC1ICP1PFICPFIC1
Chromosome	18
Chromosome location	18q21.31
Summary	This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side o

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34719006	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs35140429	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs111033609	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121909099	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909101	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909104	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909105	G>A	Pathogenic	Stop gained, coding sequence variant
rs140634215	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145750280	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs515726138	G>T	Pathogenic	Missense variant, coding sequence variant
rs761575295	C>T	Pathogenic	Synonymous variant, intron variant, coding sequence variant
rs761784230	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs762363452	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1202682161	C>T	Pathogenic	Coding sequence variant, missense variant

409

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miRTarBase ID	miRNA	Experiments	Reference
MIRT539055	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT539054	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT539052	hsa-miR-4262	PAR-CLIP	22012620
MIRT539053	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT539051	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT539050	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT539048	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT518584	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT518583	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT518582	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT518581	hsa-miR-1273f	PAR-CLIP	23446348
MIRT518580	hsa-miR-4743-5p	PAR-CLIP	23446348
MIRT518579	hsa-miR-4492	PAR-CLIP	23446348
MIRT518577	hsa-miR-4498	PAR-CLIP	23446348
MIRT518578	hsa-miR-5001-5p	PAR-CLIP	23446348
MIRT518576	hsa-miR-762	PAR-CLIP	23446348
MIRT518575	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT518574	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT518573	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT518572	hsa-miR-3170	PAR-CLIP	23446348
MIRT518571	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT518570	hsa-miR-5096	PAR-CLIP	23446348
MIRT539055	hsa-miR-181a-5p	PAR-CLIP	22012620
MIRT539054	hsa-miR-181c-5p	PAR-CLIP	22012620
MIRT539052	hsa-miR-4262	PAR-CLIP	22012620
MIRT539053	hsa-miR-181b-5p	PAR-CLIP	22012620
MIRT539051	hsa-miR-181d-5p	PAR-CLIP	22012620
MIRT539050	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT539048	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT518584	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT518583	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT518582	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT518581	hsa-miR-1273f	PAR-CLIP	23446348
MIRT518580	hsa-miR-4743-5p	PAR-CLIP	23446348
MIRT518579	hsa-miR-4492	PAR-CLIP	23446348
MIRT518577	hsa-miR-4498	PAR-CLIP	23446348
MIRT518578	hsa-miR-5001-5p	PAR-CLIP	23446348
MIRT518576	hsa-miR-762	PAR-CLIP	23446348
MIRT518575	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT518574	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT518573	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT518572	hsa-miR-3170	PAR-CLIP	23446348
MIRT518571	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT518570	hsa-miR-5096	PAR-CLIP	23446348
MIRT809729	hsa-miR-1200	CLIP-seq
MIRT809730	hsa-miR-1243	CLIP-seq
MIRT809731	hsa-miR-1245b-3p	CLIP-seq
MIRT809732	hsa-miR-1272	CLIP-seq
MIRT809733	hsa-miR-1305	CLIP-seq
MIRT809734	hsa-miR-141	CLIP-seq
MIRT809735	hsa-miR-144	CLIP-seq
MIRT809736	hsa-miR-146b-3p	CLIP-seq
MIRT809737	hsa-miR-181a	CLIP-seq
MIRT809738	hsa-miR-181b	CLIP-seq
MIRT809739	hsa-miR-181c	CLIP-seq
MIRT809740	hsa-miR-181d	CLIP-seq
MIRT809741	hsa-miR-197	CLIP-seq
MIRT809742	hsa-miR-200a	CLIP-seq
MIRT809743	hsa-miR-204	CLIP-seq
MIRT809744	hsa-miR-2053	CLIP-seq
MIRT809745	hsa-miR-2054	CLIP-seq
MIRT809746	hsa-miR-211	CLIP-seq
MIRT809747	hsa-miR-216a	CLIP-seq
MIRT809748	hsa-miR-224	CLIP-seq
MIRT809749	hsa-miR-25	CLIP-seq
MIRT809750	hsa-miR-3117-3p	CLIP-seq
MIRT809751	hsa-miR-3121-3p	CLIP-seq
MIRT809752	hsa-miR-3157-3p	CLIP-seq
MIRT809753	hsa-miR-3161	CLIP-seq
MIRT809754	hsa-miR-3169	CLIP-seq
MIRT809755	hsa-miR-3173-5p	CLIP-seq
MIRT809756	hsa-miR-32	CLIP-seq
MIRT809757	hsa-miR-323-3p	CLIP-seq
MIRT809758	hsa-miR-33a	CLIP-seq
MIRT809759	hsa-miR-33b	CLIP-seq
MIRT809760	hsa-miR-363	CLIP-seq
MIRT809761	hsa-miR-3646	CLIP-seq
MIRT809762	hsa-miR-3662	CLIP-seq
MIRT809763	hsa-miR-3663-5p	CLIP-seq
MIRT809764	hsa-miR-367	CLIP-seq
MIRT809765	hsa-miR-3672	CLIP-seq
MIRT809766	hsa-miR-3942-3p	CLIP-seq
MIRT809767	hsa-miR-4282	CLIP-seq
MIRT809768	hsa-miR-4289	CLIP-seq
MIRT809769	hsa-miR-4308	CLIP-seq
MIRT809770	hsa-miR-4324	CLIP-seq
MIRT809771	hsa-miR-4330	CLIP-seq
MIRT809772	hsa-miR-4461	CLIP-seq
MIRT809773	hsa-miR-4463	CLIP-seq
MIRT809774	hsa-miR-4643	CLIP-seq
MIRT809775	hsa-miR-466	CLIP-seq
MIRT809776	hsa-miR-4693-3p	CLIP-seq
MIRT809777	hsa-miR-4709-5p	CLIP-seq
MIRT809778	hsa-miR-4743	CLIP-seq
MIRT809779	hsa-miR-4755-5p	CLIP-seq
MIRT809780	hsa-miR-4759	CLIP-seq
MIRT809781	hsa-miR-4789-3p	CLIP-seq
MIRT809782	hsa-miR-4789-5p	CLIP-seq
MIRT809783	hsa-miR-487a	CLIP-seq
MIRT809784	hsa-miR-511	CLIP-seq
MIRT809785	hsa-miR-513a-3p	CLIP-seq
MIRT809786	hsa-miR-544b	CLIP-seq
MIRT809787	hsa-miR-548ad	CLIP-seq
MIRT809788	hsa-miR-569	CLIP-seq
MIRT809789	hsa-miR-579	CLIP-seq
MIRT809790	hsa-miR-616	CLIP-seq
MIRT809791	hsa-miR-623	CLIP-seq
MIRT809792	hsa-miR-654-3p	CLIP-seq
MIRT809793	hsa-miR-874	CLIP-seq
MIRT809794	hsa-miR-887	CLIP-seq
MIRT809795	hsa-miR-889	CLIP-seq
MIRT809796	hsa-miR-924	CLIP-seq
MIRT809797	hsa-miR-92a	CLIP-seq
MIRT809798	hsa-miR-92b	CLIP-seq
MIRT1545628	hsa-miR-1307	CLIP-seq
MIRT1545629	hsa-miR-4284	CLIP-seq
MIRT1545630	hsa-miR-4638-5p	CLIP-seq
MIRT1939219	hsa-miR-1208	CLIP-seq
MIRT1939220	hsa-miR-122	CLIP-seq
MIRT1939221	hsa-miR-1245	CLIP-seq
MIRT1939222	hsa-miR-125a-5p	CLIP-seq
MIRT1939223	hsa-miR-125b	CLIP-seq
MIRT809734	hsa-miR-141	CLIP-seq
MIRT809736	hsa-miR-146b-3p	CLIP-seq
MIRT1939224	hsa-miR-150	CLIP-seq
MIRT1939225	hsa-miR-1915	CLIP-seq
MIRT809741	hsa-miR-197	CLIP-seq
MIRT1939226	hsa-miR-1976	CLIP-seq
MIRT809742	hsa-miR-200a	CLIP-seq
MIRT809745	hsa-miR-2054	CLIP-seq
MIRT1939227	hsa-miR-3135b	CLIP-seq
MIRT1939228	hsa-miR-3150a-5p	CLIP-seq
MIRT1939229	hsa-miR-3150b-5p	CLIP-seq
MIRT809752	hsa-miR-3157-3p	CLIP-seq
MIRT1939230	hsa-miR-3163	CLIP-seq
MIRT809755	hsa-miR-3173-5p	CLIP-seq
MIRT1939231	hsa-miR-3194-3p	CLIP-seq
MIRT1939232	hsa-miR-3652	CLIP-seq
MIRT809763	hsa-miR-3663-5p	CLIP-seq
MIRT1939233	hsa-miR-3915	CLIP-seq
MIRT1939234	hsa-miR-3940-3p	CLIP-seq
MIRT809769	hsa-miR-4308	CLIP-seq
MIRT1939235	hsa-miR-431	CLIP-seq
MIRT1939236	hsa-miR-4319	CLIP-seq
MIRT1939237	hsa-miR-4430	CLIP-seq
MIRT1939238	hsa-miR-4505	CLIP-seq
MIRT1939239	hsa-miR-4713-5p	CLIP-seq
MIRT1939240	hsa-miR-4726-3p	CLIP-seq
MIRT1939241	hsa-miR-4732-3p	CLIP-seq
MIRT1939242	hsa-miR-4735-5p	CLIP-seq
MIRT1939243	hsa-miR-4775	CLIP-seq
MIRT1939244	hsa-miR-498	CLIP-seq
MIRT1939245	hsa-miR-532-3p	CLIP-seq
MIRT809789	hsa-miR-579	CLIP-seq
MIRT1939246	hsa-miR-590-3p	CLIP-seq
MIRT809790	hsa-miR-616	CLIP-seq
MIRT1939247	hsa-miR-640	CLIP-seq
MIRT1939248	hsa-miR-647	CLIP-seq
MIRT1939249	hsa-miR-670	CLIP-seq
MIRT809793	hsa-miR-874	CLIP-seq
MIRT809796	hsa-miR-924	CLIP-seq
MIRT2178358	hsa-miR-106a	CLIP-seq
MIRT2178359	hsa-miR-106b	CLIP-seq
MIRT2178360	hsa-miR-1178	CLIP-seq
MIRT809729	hsa-miR-1200	CLIP-seq
MIRT1939219	hsa-miR-1208	CLIP-seq
MIRT1939220	hsa-miR-122	CLIP-seq
MIRT2178361	hsa-miR-1227	CLIP-seq
MIRT809730	hsa-miR-1243	CLIP-seq
MIRT1939221	hsa-miR-1245	CLIP-seq
MIRT809731	hsa-miR-1245b-3p	CLIP-seq
MIRT2178362	hsa-miR-125a-3p	CLIP-seq
MIRT2178363	hsa-miR-1260	CLIP-seq
MIRT2178364	hsa-miR-1260b	CLIP-seq
MIRT809732	hsa-miR-1272	CLIP-seq
MIRT2178365	hsa-miR-1290	CLIP-seq
MIRT809733	hsa-miR-1305	CLIP-seq
MIRT1545628	hsa-miR-1307	CLIP-seq
MIRT809734	hsa-miR-141	CLIP-seq
MIRT2178366	hsa-miR-142-5p	CLIP-seq
MIRT809735	hsa-miR-144	CLIP-seq
MIRT809736	hsa-miR-146b-3p	CLIP-seq
MIRT1939224	hsa-miR-150	CLIP-seq
MIRT2178367	hsa-miR-1587	CLIP-seq
MIRT2178368	hsa-miR-17	CLIP-seq
MIRT809737	hsa-miR-181a	CLIP-seq
MIRT809738	hsa-miR-181b	CLIP-seq
MIRT809739	hsa-miR-181c	CLIP-seq
MIRT809740	hsa-miR-181d	CLIP-seq
MIRT2178369	hsa-miR-185	CLIP-seq
MIRT2178370	hsa-miR-188-3p	CLIP-seq
MIRT1939225	hsa-miR-1915	CLIP-seq
MIRT809741	hsa-miR-197	CLIP-seq
MIRT1939226	hsa-miR-1976	CLIP-seq
MIRT809742	hsa-miR-200a	CLIP-seq
MIRT809743	hsa-miR-204	CLIP-seq
MIRT809744	hsa-miR-2053	CLIP-seq
MIRT809745	hsa-miR-2054	CLIP-seq
MIRT2178371	hsa-miR-20a	CLIP-seq
MIRT2178372	hsa-miR-20b	CLIP-seq
MIRT809746	hsa-miR-211	CLIP-seq
MIRT809747	hsa-miR-216a	CLIP-seq
MIRT809748	hsa-miR-224	CLIP-seq
MIRT809749	hsa-miR-25	CLIP-seq
MIRT2178373	hsa-miR-2682	CLIP-seq
MIRT2178374	hsa-miR-27a	CLIP-seq
MIRT2178375	hsa-miR-27b	CLIP-seq
MIRT2178376	hsa-miR-302a	CLIP-seq
MIRT2178377	hsa-miR-302b	CLIP-seq
MIRT2178378	hsa-miR-302c	CLIP-seq
MIRT2178379	hsa-miR-302d	CLIP-seq
MIRT2178380	hsa-miR-302e	CLIP-seq
MIRT2178381	hsa-miR-30a	CLIP-seq
MIRT2178382	hsa-miR-30b	CLIP-seq
MIRT2178383	hsa-miR-30c	CLIP-seq
MIRT2178384	hsa-miR-30d	CLIP-seq
MIRT2178385	hsa-miR-30e	CLIP-seq
MIRT809750	hsa-miR-3117-3p	CLIP-seq
MIRT809751	hsa-miR-3121-3p	CLIP-seq
MIRT2178386	hsa-miR-3124-3p	CLIP-seq
MIRT1939227	hsa-miR-3135b	CLIP-seq
MIRT2178387	hsa-miR-3145-3p	CLIP-seq
MIRT2178388	hsa-miR-3149	CLIP-seq
MIRT1939228	hsa-miR-3150a-5p	CLIP-seq
MIRT1939229	hsa-miR-3150b-5p	CLIP-seq
MIRT2178389	hsa-miR-3156-3p	CLIP-seq
MIRT809752	hsa-miR-3157-3p	CLIP-seq
MIRT2178390	hsa-miR-3160-5p	CLIP-seq
MIRT809753	hsa-miR-3161	CLIP-seq
MIRT809754	hsa-miR-3169	CLIP-seq
MIRT809755	hsa-miR-3173-5p	CLIP-seq
MIRT2178391	hsa-miR-3176	CLIP-seq
MIRT2178392	hsa-miR-3180-5p	CLIP-seq
MIRT2178393	hsa-miR-3182	CLIP-seq
MIRT1939231	hsa-miR-3194-3p	CLIP-seq
MIRT2178394	hsa-miR-3198	CLIP-seq
MIRT809756	hsa-miR-32	CLIP-seq
MIRT809758	hsa-miR-33a	CLIP-seq
MIRT809759	hsa-miR-33b	CLIP-seq
MIRT2178395	hsa-miR-340	CLIP-seq
MIRT2178396	hsa-miR-3529	CLIP-seq
MIRT2178397	hsa-miR-3609	CLIP-seq
MIRT2178398	hsa-miR-3611	CLIP-seq
MIRT809760	hsa-miR-363	CLIP-seq
MIRT1939232	hsa-miR-3652	CLIP-seq
MIRT809762	hsa-miR-3662	CLIP-seq
MIRT809763	hsa-miR-3663-5p	CLIP-seq
MIRT809764	hsa-miR-367	CLIP-seq
MIRT2178399	hsa-miR-3671	CLIP-seq
MIRT2178400	hsa-miR-3682-5p	CLIP-seq
MIRT2178401	hsa-miR-3688-3p	CLIP-seq
MIRT2178402	hsa-miR-3692	CLIP-seq
MIRT2178403	hsa-miR-371-5p	CLIP-seq
MIRT2178404	hsa-miR-371b-5p	CLIP-seq
MIRT2178405	hsa-miR-372	CLIP-seq
MIRT2178406	hsa-miR-373	CLIP-seq
MIRT2178407	hsa-miR-377	CLIP-seq
MIRT2178408	hsa-miR-378g	CLIP-seq
MIRT2178409	hsa-miR-379	CLIP-seq
MIRT2178410	hsa-miR-382	CLIP-seq
MIRT2178411	hsa-miR-3922-3p	CLIP-seq
MIRT2178412	hsa-miR-3934	CLIP-seq
MIRT809766	hsa-miR-3942-3p	CLIP-seq
MIRT2178413	hsa-miR-3977	CLIP-seq
MIRT2178414	hsa-miR-421	CLIP-seq
MIRT2178415	hsa-miR-4267	CLIP-seq
MIRT2178416	hsa-miR-4269	CLIP-seq
MIRT2178417	hsa-miR-4272	CLIP-seq
MIRT809767	hsa-miR-4282	CLIP-seq
MIRT1545629	hsa-miR-4284	CLIP-seq
MIRT2178418	hsa-miR-4306	CLIP-seq
MIRT809769	hsa-miR-4308	CLIP-seq
MIRT2178419	hsa-miR-4309	CLIP-seq
MIRT1939235	hsa-miR-431	CLIP-seq
MIRT2178420	hsa-miR-4312	CLIP-seq
MIRT809770	hsa-miR-4324	CLIP-seq
MIRT809771	hsa-miR-4330	CLIP-seq
MIRT1939237	hsa-miR-4430	CLIP-seq
MIRT2178421	hsa-miR-4451	CLIP-seq
MIRT2178422	hsa-miR-4477b	CLIP-seq
MIRT2178423	hsa-miR-449c	CLIP-seq
MIRT1939238	hsa-miR-4505	CLIP-seq
MIRT2178424	hsa-miR-450b-5p	CLIP-seq
MIRT1545630	hsa-miR-4638-5p	CLIP-seq
MIRT2178425	hsa-miR-4644	CLIP-seq
MIRT2178426	hsa-miR-4650-3p	CLIP-seq
MIRT2178427	hsa-miR-4654	CLIP-seq
MIRT2178428	hsa-miR-4656	CLIP-seq
MIRT2178429	hsa-miR-4659a-3p	CLIP-seq
MIRT2178430	hsa-miR-4659b-3p	CLIP-seq
MIRT809775	hsa-miR-466	CLIP-seq
MIRT2178431	hsa-miR-4667-3p	CLIP-seq
MIRT2178432	hsa-miR-4675	CLIP-seq
MIRT2178433	hsa-miR-4690-3p	CLIP-seq
MIRT809776	hsa-miR-4693-3p	CLIP-seq
MIRT2178434	hsa-miR-4695-3p	CLIP-seq
MIRT2178435	hsa-miR-4700-3p	CLIP-seq
MIRT809777	hsa-miR-4709-5p	CLIP-seq
MIRT2178436	hsa-miR-4712-3p	CLIP-seq
MIRT1939239	hsa-miR-4713-5p	CLIP-seq
MIRT1939240	hsa-miR-4726-3p	CLIP-seq
MIRT2178437	hsa-miR-4731-5p	CLIP-seq
MIRT1939242	hsa-miR-4735-5p	CLIP-seq
MIRT2178438	hsa-miR-4738-3p	CLIP-seq
MIRT2178439	hsa-miR-4740-5p	CLIP-seq
MIRT2178440	hsa-miR-4741	CLIP-seq
MIRT809779	hsa-miR-4755-5p	CLIP-seq
MIRT2178441	hsa-miR-4757-5p	CLIP-seq
MIRT809780	hsa-miR-4759	CLIP-seq
MIRT2178442	hsa-miR-4762-5p	CLIP-seq
MIRT2178443	hsa-miR-4766-5p	CLIP-seq
MIRT2178444	hsa-miR-4768-3p	CLIP-seq
MIRT2178445	hsa-miR-4769-5p	CLIP-seq
MIRT1939243	hsa-miR-4775	CLIP-seq
MIRT2178446	hsa-miR-4795-3p	CLIP-seq
MIRT2178447	hsa-miR-4796-3p	CLIP-seq
MIRT1939244	hsa-miR-498	CLIP-seq
MIRT809784	hsa-miR-511	CLIP-seq
MIRT2178448	hsa-miR-512-3p	CLIP-seq
MIRT809785	hsa-miR-513a-3p	CLIP-seq
MIRT2178449	hsa-miR-513a-5p	CLIP-seq
MIRT2178450	hsa-miR-513c	CLIP-seq
MIRT2178451	hsa-miR-514	CLIP-seq
MIRT2178452	hsa-miR-514b-3p	CLIP-seq
MIRT2178453	hsa-miR-514b-5p	CLIP-seq
MIRT2178454	hsa-miR-518a-5p	CLIP-seq
MIRT2178455	hsa-miR-519d	CLIP-seq
MIRT2178456	hsa-miR-520a-3p	CLIP-seq
MIRT2178457	hsa-miR-520b	CLIP-seq
MIRT2178458	hsa-miR-520c-3p	CLIP-seq
MIRT2178459	hsa-miR-520d-3p	CLIP-seq
MIRT2178460	hsa-miR-520e	CLIP-seq
MIRT2178461	hsa-miR-527	CLIP-seq
MIRT1939245	hsa-miR-532-3p	CLIP-seq
MIRT2178462	hsa-miR-539	CLIP-seq
MIRT2178463	hsa-miR-543	CLIP-seq
MIRT809786	hsa-miR-544b	CLIP-seq
MIRT809787	hsa-miR-548ad	CLIP-seq
MIRT2178464	hsa-miR-548ah	CLIP-seq
MIRT2178465	hsa-miR-548t	CLIP-seq
MIRT2178466	hsa-miR-561	CLIP-seq
MIRT809788	hsa-miR-569	CLIP-seq
MIRT809789	hsa-miR-579	CLIP-seq
MIRT1939246	hsa-miR-590-3p	CLIP-seq
MIRT809790	hsa-miR-616	CLIP-seq
MIRT809791	hsa-miR-623	CLIP-seq
MIRT1939247	hsa-miR-640	CLIP-seq
MIRT2178467	hsa-miR-642b	CLIP-seq
MIRT1939248	hsa-miR-647	CLIP-seq
MIRT809792	hsa-miR-654-3p	CLIP-seq
MIRT2178468	hsa-miR-764	CLIP-seq
MIRT809793	hsa-miR-874	CLIP-seq
MIRT809794	hsa-miR-887	CLIP-seq
MIRT809795	hsa-miR-889	CLIP-seq
MIRT809796	hsa-miR-924	CLIP-seq
MIRT809797	hsa-miR-92a	CLIP-seq
MIRT809798	hsa-miR-92b	CLIP-seq
MIRT2178469	hsa-miR-93	CLIP-seq
MIRT2178470	hsa-miR-940	CLIP-seq
MIRT1939220	hsa-miR-122	CLIP-seq
MIRT1939221	hsa-miR-1245	CLIP-seq
MIRT2178420	hsa-miR-4312	CLIP-seq
MIRT2178441	hsa-miR-4757-5p	CLIP-seq
MIRT1939247	hsa-miR-640	CLIP-seq
MIRT809733	hsa-miR-1305	CLIP-seq
MIRT809737	hsa-miR-181a	CLIP-seq
MIRT809738	hsa-miR-181b	CLIP-seq
MIRT809739	hsa-miR-181c	CLIP-seq
MIRT809740	hsa-miR-181d	CLIP-seq
MIRT809743	hsa-miR-204	CLIP-seq
MIRT809746	hsa-miR-211	CLIP-seq
MIRT809750	hsa-miR-3117-3p	CLIP-seq
MIRT809754	hsa-miR-3169	CLIP-seq
MIRT809779	hsa-miR-4755-5p	CLIP-seq
MIRT809780	hsa-miR-4759	CLIP-seq
MIRT2178446	hsa-miR-4795-3p	CLIP-seq
MIRT809791	hsa-miR-623	CLIP-seq
MIRT1939224	hsa-miR-150	CLIP-seq
MIRT1939225	hsa-miR-1915	CLIP-seq
MIRT1939228	hsa-miR-3150a-5p	CLIP-seq
MIRT1939229	hsa-miR-3150b-5p	CLIP-seq
MIRT1939239	hsa-miR-4713-5p	CLIP-seq
MIRT1939240	hsa-miR-4726-3p	CLIP-seq
MIRT1939244	hsa-miR-498	CLIP-seq
MIRT1939245	hsa-miR-532-3p	CLIP-seq
MIRT1939224	hsa-miR-150	CLIP-seq
MIRT1939225	hsa-miR-1915	CLIP-seq
MIRT1939228	hsa-miR-3150a-5p	CLIP-seq
MIRT1939229	hsa-miR-3150b-5p	CLIP-seq
MIRT1939234	hsa-miR-3940-3p	CLIP-seq
MIRT1939239	hsa-miR-4713-5p	CLIP-seq
MIRT1939240	hsa-miR-4726-3p	CLIP-seq
MIRT1939242	hsa-miR-4735-5p	CLIP-seq
MIRT1939243	hsa-miR-4775	CLIP-seq
MIRT1939244	hsa-miR-498	CLIP-seq
MIRT1939245	hsa-miR-532-3p	CLIP-seq
MIRT1939246	hsa-miR-590-3p	CLIP-seq
MIRT1939221	hsa-miR-1245	CLIP-seq
MIRT1939224	hsa-miR-150	CLIP-seq
MIRT1939225	hsa-miR-1915	CLIP-seq
MIRT1939228	hsa-miR-3150a-5p	CLIP-seq
MIRT1939229	hsa-miR-3150b-5p	CLIP-seq
MIRT2178420	hsa-miR-4312	CLIP-seq
MIRT1939239	hsa-miR-4713-5p	CLIP-seq
MIRT1939240	hsa-miR-4726-3p	CLIP-seq
MIRT2178441	hsa-miR-4757-5p	CLIP-seq
MIRT1939244	hsa-miR-498	CLIP-seq
MIRT1939245	hsa-miR-532-3p	CLIP-seq
MIRT1939247	hsa-miR-640	CLIP-seq

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	19731236, 20947505, 20961850, 21914794, 25239307, 25947375
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA	21914794
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	20947505
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20947505, 20961850, 25315773
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	12880872
GO:0005886	Component	Plasma membrane	TAS
GO:0006855	Process	Xenobiotic transmembrane transport	IDA	20510206
GO:0006869	Process	Lipid transport	IEA
GO:0007030	Process	Golgi organization	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0015247	Function	Aminophospholipid flippase activity	IEA
GO:0015711	Process	Organic anion transport	IEA
GO:0015721	Process	Bile acid and bile salt transport	IEA
GO:0015721	Process	Bile acid and bile salt transport	NAS	12880872
GO:0015914	Process	Phospholipid transport	IEA
GO:0015917	Process	Aminophospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	11682026, 20512993
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0021650	Process	Vestibulocochlear nerve formation	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032534	Process	Regulation of microvillus assembly	IMP	20512993
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0042995	Component	Cell projection	IEA
GO:0045176	Process	Apical protein localization	IMP	27301931
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	IDA	20510206
GO:0045332	Process	Phospholipid translocation	IEA
GO:0045332	Process	Phospholipid translocation	NAS	21914794
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	16628629
GO:0046872	Function	Metal ion binding	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0090554	Function	Phosphatidylcholine floppase activity	IEA
GO:0090556	Function	Phosphatidylserine floppase activity	IEA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IBA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	TAS	12880872
GO:0140327	Function	Flippase activity	IEA
GO:0140331	Process	Aminophospholipid translocation	IEA
GO:0140345	Function	Phosphatidylcholine flippase activity	IDA	25315773, 25947375
GO:0140346	Function	Phosphatidylserine flippase activity	ISS
GO:1901612	Function	Cardiolipin binding	IEA
GO:1903729	Process	Regulation of plasma membrane organization	IEA
GO:1990531	Component	Phospholipid-translocating ATPase complex	IDA	25239307, 25947375
GO:1990531	Component	Phospholipid-translocating ATPase complex	IPI	20961850
GO:2001225	Process	Regulation of chloride transport	IMP	27301931

MIM	HGNC	e!Ensembl
602397	3706	ENSG00000081923

O43520

Protein name

Phospholipid-transporting ATPase IC (EC 7.6.2.1) (ATPase class I type 8B member 1) (Familial intrahepatic cholestasis type 1) (P4-ATPase flippase complex alpha subunit ATP8B1)

Protein function

Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:1794

PDB

7PY4 , 7VGH , 7VGI , 7VGJ , 8OX4 , 8OX5 , 8OX6 , 8OX7 , 8OX8 , 8OX9 , 8OXA , 8OXB , 8OXC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16209	PhoLip_ATPase_N	66 → 145	Phospholipid-translocating ATPase N-terminal	Family
PF00122	E1-E2_ATPase	172 → 413		Family
PF13246	Cation_ATPase	532 → 632		Family
PF16212	PhoLip_ATPase_C	919 → 1173	Phospholipid-translocating P-type ATPase C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine.

Sequence

MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRK
ECTWQVKANDRKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAA
NLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFK
MSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLFWRNTSFPLDADKILLRGCVI
RNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHA
YWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFIN
WDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHR
DASQHNHNKIEQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVD
RTDGQLNYQAASPDEGALVNAARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDR
KRMSIIVRTPEGNIKLYCKGADTVIYERLHRMNPTKQETQDALDIFANETLRTLCLCYKE
IEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLILLGATAIEDKLQDGVPETISK
LAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARMENQRNRGGVYA
KFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKR
RLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNM
IKTAHIGVGISGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFA
FTLVHFWYSFFNGYSAQTAYEDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYI
VGQRDLLFNYKRFFVSLLHGVLTSMILFFIPLGAYLQTVGQDGEAPSDYQSFAVTIASAL
VITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSAGIHVLFPSAFQFTGTASNAL
RQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQWQRRQQVFRR
GVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS

Sequence length

1251

Interactions

View interactions

	Reactome
			Ion transport by P-type ATPases

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)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ATP8B1-related disorder	Likely pathogenic; Pathogenic	rs1194018304, rs374340059, rs111033609, rs121909100, rs121909101, rs140407614, rs2511806400, rs2511652485, rs1202682161	RCV001733830 RCV004548254 RCV004547463 RCV004547464 RCV004547465 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign recurrent intrahepatic cholestasis type 1	Likely pathogenic; Pathogenic	rs1568188537, rs781213892, rs1912544280, rs515726137, rs775370485, rs374340059, rs770257115, rs1007521320, rs387906381, rs121909100, rs2122653939, rs1057523495, rs121909105, rs2511630610, rs761575295 View all (40 more)	RCV003474255 RCV003326001 RCV003475552 RCV003474707 RCV002250869 View all (50 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis, intrahepatic, of pregnancy, 1	Pathogenic; Likely pathogenic	rs770257115, rs121909100, rs121909103, rs773092889, rs1350129130, rs775827012, rs1443328607, rs2511769729, rs2511778163, rs1057524081, rs756395915	RCV005025750 RCV005025026 RCV000007695 RCV005030049 RCV005030050 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs2511766728	RCV005931449	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial intrahepatic cholestasis type 1	Pathogenic	rs121909105, rs1912903065	RCV001250187 RCV001250188	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive familial intrahepatic cholestasis	Likely pathogenic; Pathogenic	rs1568178734, rs2122711426, rs1912544280, rs515726137, rs1007521320, rs111033609, rs121909100, rs773092889, rs757976892, rs1443328607, rs2511769729, rs140665115, rs752757689, rs756395915	RCV001553564 RCV001732825 RCV003231010 RCV002509220 RCV002510307 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive familial intrahepatic cholestasis type 1	Likely pathogenic; Pathogenic	rs765716200, rs781213892, rs515726137, rs1913405478, rs374340059, rs770257115, rs111033609, rs121909099, rs387906381, rs121909100, rs121909101, rs121909104, rs121909105, rs2511652728, rs2511652911 View all (16 more)	RCV001544517 RCV004584921 RCV000114321 RCV002250899 RCV002272580 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs1568188537	RCV005927727	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs1568178734	RCV005916218	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (38)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alagille syndrome, ATP8B1 related	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS OF PREGNANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic cholestasis with episodic jaundice	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive familial intrahepatic cholestasis type 2	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (80)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alagille Syndrome	Alagille Syndrome	BEFREE	17414143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34539672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign recurrent intrahepatic cholestasis type 1	Benign Intrahepatic Cholestasis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	29965997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	21691113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21691113	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	31538484	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	11093741, 11682026, 11745041, 14708891, 15239083, 15317749, 15736649, 15888793, 16819395, 19059530, 19478059, 19882051, 20422494, 20512993, 25022842 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	15736649, 15736650, 15888793, 17241866, 20683201, 23197899, 27050426, 28937026, 34543749, 35894240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis Extrahepatic	Cholelithiasis	Pubtator	20447715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	17241866, 20947505, 26678486, 28937026, 31538484, 35416773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	12801961, 15248112, 15657619, 15888793, 19731236, 19882051, 23142591, 28924228		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis of pregnancy	Cholestasis of pregnancy	ORPHANET_DG	15888793		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis of pregnancy	Cholestasis of pregnancy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis progressive familial intrahepatic 1	Cholelithiasis	Pubtator	15736649, 15888793, 18379143, 20447715, 23197899, 25022842, 28476903, 29104077, 29973134, 33666275, 34283821, 34543749, 36293199, 38607191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 1	Cholestasis	UNIPROT_DG	15239083, 19731236, 9500542, 9918928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 1	Cholestasis	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 1	Cholestasis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 1	Cholestasis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 1	Cholestasis	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1	Cholestasis	UNIPROT_DG	15657619, 15888793, 19731236		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1	Cholestasis	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1	Cholestasis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	10323248, 10679031, 10975791, 11093741, 11682026, 12927934, 15239083, 15300568, 15768832, 16819395, 16868810, 17101580, 17241866, 18937870, 19731236 View all (24 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	UNIPROT_DG	11093741, 15239083, 19731236, 20038848, 23197899, 9500542		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	CLINVAR_DG	15239083, 19731236, 19918981, 26879107, 9500542, 9918928		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	GENOMICS_ENGLAND_DG	27604308, 9500542		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	BEFREE	20414253		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	BEFREE	19133130, 20232290, 20414253, 23141890		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestatic liver disease	Cholestatic liver disease	BEFREE	12880872, 26045263, 31099022, 8933336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	17663686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25335079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24204606, 25335079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33062669	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16628629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	20447715	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	34283821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	12927934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial intrahepatic cholestasis of pregnancy	Cholestasis of pregnancy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	19479804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34539672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	20447715	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	19228886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	26382629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26399999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	11745041, 11815775, 15736649, 17241866, 20947505, 26666282, 26879107, 28919113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis	Intrahepatic Cholestasis	CTD_human_DG	18379143		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	15888793, 20447715, 23060447, 23197899, 24366234, 26678486, 28064265, 28924228, 29973134, 31538484, 32917322, 32942997, 34016879, 34543749, 35416773, 35894240 View all (1 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic cholestasis of pregnancy	Intrahepatic Cholestasis Of Pregnancy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic cholestasis with episodic jaundice	Intrahepatic cholestasis with episodic jaundice	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Failure Chronic	Kidney failure	Pubtator	20947505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17663686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	23197899, 31538484, 34348275, 35894240, 37208429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	20947505, 29104077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29104077, 35416773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	25239307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31105019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19479804, 19918981, 20852622, 23060447, 25737299, 9500542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	20447715	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	19479804, 24260417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	24260417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	28692147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive familial intrahepatic cholestasis type 1	Intrahepatic Cholestasis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	10679031, 10975791, 11682026, 12927934, 15062197, 15239083, 15300568, 15768832, 16868810, 18937870, 19479804, 20038848, 20126555, 20232290, 20414253 View all (18 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	34016879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30636723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	20447715	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	36293199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	19479804, 27534385, 29654655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	26382629		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP8B1 (ATPase phospholipid transporting 8B1)