ABCB11 (ATP binding cassette subfamily B member 11)

Gene

• Entrez ID: 8647
• Gene name: ATP binding cassette subfamily B member 11
• Gene symbol: ABCB11
• Synonyms (NCBI Gene): ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
• Chromosome: 2
• Chromosome location: 2q31.1
• 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

SNP ID	Visualize variation	Clinical significance	Consequence
rs2287617	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs11568360	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, synonymous variant, coding sequence variant
rs11568361	G>A,C	Uncertain-significance, pathogenic, likely-benign	Missense variant, stop gained, genic upstream transcript variant, coding sequence variant
rs11568362	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant
rs11568370	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs11568372	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs72549395	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72549396	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs72549397	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs72549398	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72549399	C>T	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs72549401	G>A	Pathogenic	Coding sequence variant, stop gained
rs72549402	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs121908935	C>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs138800291	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs140138979	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs140587295	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs143484849	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs147649016	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs183214630	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs183390670	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs183406496	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs183621659	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs188824058	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs188996270	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs192375476	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs199649780	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs199940188	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs200087122	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200912109	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201087979	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs201240844	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201287126	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201881755	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs367874361	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs369104228	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs375137002	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, synonymous variant, coding sequence variant
rs387906354	T>G	Pathogenic	Genic upstream transcript variant, intron variant
rs387907317	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs750944055	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs750991541	G>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs752919965	->ATCTC	Pathogenic	Synonymous variant, frameshift variant, coding sequence variant, terminator codon variant
rs752992432	C>G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs756529333	G>A	Pathogenic	Stop gained, missense variant, coding sequence variant
rs758069019	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs760750012	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs763782349	C>T	Pathogenic	Coding sequence variant, missense variant
rs764296800	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, 5 prime UTR variant
rs764581483	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs765070028	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs769910565	A>C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Intron variant
rs770497192	C>A,G	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs772294884	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs774824767	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs776223452	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs778992761	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886043703	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs886043807	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs886043875	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886043935	C>A,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs886043986	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886044710	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs917981474	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1026511416	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant, upstream transcript variant, genic upstream transcript variant
rs1060499579	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1064797270	AA>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1258387740	A>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1459273753	C>T	Pathogenic	Splice donor variant
rs1553466082	C>T	Pathogenic	Splice acceptor variant
rs1553466489	A>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553469602	C>-	Pathogenic	Splice donor variant, genic upstream transcript variant, coding sequence variant
rs1553545923	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553546495	C>-	Pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant
rs1558894166	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558898789	A>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1558912774	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1558917090	C>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1558927163	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1559183490	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs1559183717	G>A	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1574415650	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1574415738	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1574445178	A>G	Likely-pathogenic	Splice donor variant
rs1574453486	CACAGGGGTCATAGAATCGCTGAATGAGTTGCAGTGCTGTACTTTTTCCAGCTCCACTGGGTCCTACCAGAGCT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1574453508	->GAAGGAATCA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1574462504	->AT	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006901	hsa-miR-33a-5p	Luciferase reporter assay, qRT-PCR	22767443
MIRT661013	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT661012	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT661011	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT661010	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT661008	hsa-miR-4307	HITS-CLIP	23824327
MIRT519051	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT519050	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT519049	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT519047	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519048	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT519046	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT519045	hsa-miR-1538	PAR-CLIP	23446348
MIRT519044	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT519043	hsa-miR-5095	PAR-CLIP	23446348
MIRT519042	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519041	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT661013	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT661012	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT661011	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT661010	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT661008	hsa-miR-4307	HITS-CLIP	23824327
MIRT519051	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT519050	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT519049	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT519047	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519048	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT519046	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT519045	hsa-miR-1538	PAR-CLIP	23446348
MIRT519044	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT519043	hsa-miR-5095	PAR-CLIP	23446348
MIRT519042	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519041	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT755308	hsa-miR-199a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34774795
MIRT758121	hsa-miR-4422	CLIP-seq
MIRT758122	hsa-miR-4509	CLIP-seq
MIRT758123	hsa-miR-4643	CLIP-seq
MIRT758124	hsa-miR-466	CLIP-seq
MIRT758125	hsa-miR-4744	CLIP-seq
MIRT758126	hsa-miR-4789-3p	CLIP-seq
MIRT758127	hsa-miR-4795-3p	CLIP-seq
MIRT758128	hsa-miR-944	CLIP-seq
MIRT2165063	hsa-miR-3614-5p	CLIP-seq
MIRT2165064	hsa-miR-488	CLIP-seq
MIRT2467017	hsa-miR-204	CLIP-seq
MIRT2467018	hsa-miR-211	CLIP-seq
MIRT2467019	hsa-miR-4446-5p	CLIP-seq
MIRT2467020	hsa-miR-4469	CLIP-seq
MIRT2467021	hsa-miR-4727-5p	CLIP-seq
MIRT2467022	hsa-miR-4755-5p	CLIP-seq
MIRT2467023	hsa-miR-544	CLIP-seq
MIRT2467024	hsa-miR-623	CLIP-seq
MIRT2467017	hsa-miR-204	CLIP-seq
MIRT2467018	hsa-miR-211	CLIP-seq
MIRT2467019	hsa-miR-4446-5p	CLIP-seq
MIRT2467020	hsa-miR-4469	CLIP-seq
MIRT2467021	hsa-miR-4727-5p	CLIP-seq
MIRT2467022	hsa-miR-4755-5p	CLIP-seq
MIRT2467023	hsa-miR-544	CLIP-seq
MIRT2467024	hsa-miR-623	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR1H4	Unknown	11387316
NR5A2	Unknown	18270374
RXRA	Unknown	11387316

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	22262466, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005886	Component	Plasma membrane	IDA	22262466
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	20010382, 24643070, 29507376, 30431138
GO:0005886	Component	Plasma membrane	TAS
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	ISS
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IMP	18245269
GO:0006805	Process	Xenobiotic metabolic process	ISS
GO:0006855	Process	Xenobiotic transmembrane transport	IMP	15901796, 18245269
GO:0006855	Process	Xenobiotic transmembrane transport	ISS
GO:0006869	Process	Lipid transport	IEA
GO:0008206	Process	Bile acid metabolic process	IDA	32203132
GO:0008206	Process	Bile acid metabolic process	IMP	20010382, 29507376
GO:0008206	Process	Bile acid metabolic process	ISS
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	18245269
GO:0008559	Function	ABC-type xenobiotic transporter activity	ISS
GO:0009986	Component	Cell surface	IMP	15791618
GO:0015125	Function	Bile acid transmembrane transporter activity	IEA
GO:0015125	Function	Bile acid transmembrane transporter activity	IMP	20010382, 20398791, 29507376
GO:0015125	Function	Bile acid transmembrane transporter activity	ISS
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	IBA
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	IDA	32203132
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	IEA
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	IMP	22262466, 24711118
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	ISS
GO:0015432	Function	ABC-type bile acid transporter activity	IBA
GO:0015432	Function	ABC-type bile acid transporter activity	IDA	18985798, 32203132
GO:0015432	Function	ABC-type bile acid transporter activity	IEA
GO:0015432	Function	ABC-type bile acid transporter activity	IMP	15791618, 15901796
GO:0015432	Function	ABC-type bile acid transporter activity	ISS
GO:0015432	Function	ABC-type bile acid transporter activity	TAS
GO:0015721	Process	Bile acid and bile salt transport	IDA	18985798
GO:0015721	Process	Bile acid and bile salt transport	IEA
GO:0015721	Process	Bile acid and bile salt transport	IMP	15791618, 15901796, 19228692, 20010382, 29507376
GO:0015721	Process	Bile acid and bile salt transport	ISS
GO:0015721	Process	Bile acid and bile salt transport	TAS
GO:0015722	Process	Canalicular bile acid transport	IBA
GO:0015722	Process	Canalicular bile acid transport	IDA	32203132
GO:0015722	Process	Canalicular bile acid transport	IEA
GO:0015722	Process	Canalicular bile acid transport	IMP	20398791, 22262466
GO:0015722	Process	Canalicular bile acid transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IMP	15791618
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016567	Process	Protein ubiquitination	IMP	18829893
GO:0016567	Process	Protein ubiquitination	ISS
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031998	Process	Regulation of fatty acid beta-oxidation	IEA
GO:0031998	Process	Regulation of fatty acid beta-oxidation	ISS
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0046581	Component	Intercellular canaliculus	IEA
GO:0046618	Process	Xenobiotic export from cell	IMP	18245269
GO:0046618	Process	Xenobiotic export from cell	ISS
GO:0046691	Component	Intracellular canaliculus	ISS
GO:0055037	Component	Recycling endosome	ISS
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0055088	Process	Lipid homeostasis	ISS
GO:0055091	Process	Phospholipid homeostasis	IEA
GO:0055091	Process	Phospholipid homeostasis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0120189	Process	Positive regulation of bile acid secretion	IEA
GO:0120189	Process	Positive regulation of bile acid secretion	ISS
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1904251	Process	Regulation of bile acid metabolic process	IEA
GO:1904251	Process	Regulation of bile acid metabolic process	ISS

Other IDs

• MIM: 603201
• HGNC: 42
• e!Ensembl: ENSG00000073734

Protein

• UniProt ID: O95342
• Protein name: Bile salt export pump (EC 7.6.2.-) (ATP-binding cassette sub-family B member 11)
• Protein function: Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis an
• PDB: 6LR0, 7DV5, 7E1A, 8PM6, 8PMD, 8PMJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	62 → 371	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	438 → 587	ABC transporter	Domain
  PF00664	ABC_membrane	755 → 1029	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1096 → 1247	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ.
• Sequence:

  MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIW
  LMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLN
  QNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFR
  RIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWK
  LTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKRE
  VERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLV
  QIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEI
  EFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVT
  VDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNF
  IMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEV
  LSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQG
  NQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKST
  YEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQIL
  GTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAML
  GQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKL
  SLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFI
  EALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRV
  ISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDF
  VDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMID
  GHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDF
  VMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVA
  LDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPI
  S

• Sequence length: 1321

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
ABCB11-related disorder	Likely pathogenic; Pathogenic	rs1692870573, rs139641883, rs1418620415, rs72549401, rs11568372, rs769910565, rs72549402, rs72549395, rs188824058, rs763782349, rs747888517, rs2545249385, rs1694624512, rs1060499579, rs756529333, rs1558917090, rs917981474, rs1459273753, rs764581483, rs774411820, rs752043324, rs1463057954, rs147649016	RCV003953697 RCV003911123 RCV004728992 RCV004742222 RCV003904813 RCV003401248 RCV004742365 RCV003930155 RCV003401274 RCV003897653 RCV004723335 RCV003982736 RCV003966822 RCV003401507 RCV004742525 RCV003965512 RCV004742613 RCV004742622 RCV004742637 RCV003983825 RCV003405409 RCV003953592 RCV003898245	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormal liver function tests during pregnancy	Pathogenic	rs72549398	RCV000414921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign recurrent intrahepatic cholestasis type 2	Pathogenic; Likely pathogenic	rs756323541, rs769983873, rs755647308, rs748862206, rs1692870573, rs2105967839, rs2105984736, rs1553543921, rs369860506, rs199671371, rs1231877314, rs979738325, rs913644236, rs139641883, rs1691171678, rs1470131264, rs1418620415, rs866839234, rs769134865, rs770693935, rs2545409225, rs1247734675, rs72549401, rs11568372, rs387906354, rs752919965, rs121908935, rs72549397, rs769910565, rs147649016, rs758069019, rs886043807, rs886043875, rs72549402, rs72549395, rs188824058, rs763782349, rs1692220779, rs1459273753, rs2545450042, rs2545431676, rs2545271927, rs2545453686, rs2545491327, rs1693517014, rs2545453964, rs1695418522, rs2545383503, rs2545485145, rs2545299615, rs2545431362, rs1163486377, rs72551306, rs2545442611, rs1371940395, rs2105888862, rs766402285, rs2545266793, rs2545383308, rs376632574, rs2545271850, rs1691763747, rs2545364132, rs111482608, rs2545345371, rs2545267498, rs1171005948, rs774411820, rs2545442155, rs2545457176, rs2545456977, rs1356859208, rs751446926, rs2545432325, rs2545487249, rs1186246637, rs2545487369, rs2545450572, rs2545267203, rs145720664, rs1252769722, rs2545450648, rs2545249795, rs2545236621, rs72549398, rs1060499579, rs1064797270, rs752992432, rs756529333, rs72549396, rs772294884, rs1026511416, rs1558917090, rs917981474, rs1558927163, rs72549399, rs1559183717, rs760750012, rs764581483, rs1691232631, rs752043324, rs1463057954, rs1691365745, rs766285158	RCV001329748 RCV004570972 RCV003463040 RCV003469781 RCV002493923 RCV004570948 RCV003464138 RCV001839472 RCV005016737 RCV003475285 RCV003475195 RCV003464278 RCV003475198 RCV003464280 RCV005025517 RCV004571716 RCV005025526 RCV003475163 RCV003475303 RCV005028315 RCV003465839 RCV004571398 RCV005025019 RCV000258070 RCV002482836 RCV003460430 RCV000006974 RCV003472993 RCV000763464 RCV005016673 RCV003463766 RCV003463770 RCV004567834 RCV001198579 RCV003463773 RCV000763465 RCV003475921 RCV003463500 RCV003464969 RCV003465009 RCV003465147 RCV003465172 RCV003474388 RCV003474398 RCV003474408 RCV003474419 RCV003475576 RCV003466149 RCV003459980 RCV003463304 RCV003464823 RCV003466579 RCV003466610 RCV003466654 RCV003464944 RCV003475683 RCV003468378 RCV003468416 RCV003468515 RCV003475714 RCV003475744 RCV003475801 RCV003468630 RCV003461951 RCV003460278 RCV003460306 RCV003460321 RCV003460380 RCV003474499 RCV003475640 RCV003475673 RCV005622243 RCV005014830 RCV005030176 RCV003994781 RCV004574378 RCV004573640 RCV004573894 RCV004575386 RCV004575454 RCV004575505 RCV004575516 RCV004575538 RCV004575623 RCV003470365 RCV000477943 RCV003476175 RCV003465343 RCV003459472 RCV003465346 RCV003338678 RCV003472261 RCV003461004 RCV002499353 RCV001336078 RCV002499359 RCV002485920 RCV002477730 RCV005021143 RCV005622027 RCV005029590 RCV003469360 RCV004570528 RCV003469388 RCV005029798 RCV005014261 RCV003462827	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis, intrahepatic, of pregnancy, 3	Pathogenic; Likely pathogenic	rs11568372, rs769910565, rs188824058, rs764296800, rs1574445178	RCV001003930 RCV001003555 RCV001003929 RCV001003558 RCV001003554	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis, progressive familial intrahepatic, 4	Pathogenic	rs72549402	RCV004783771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial intrahepatic cholestasis type 2	Likely pathogenic; Pathogenic	rs766285158, rs764581483, rs1693198121, rs764125510, rs147649016	RCV001250138 RCV001250137 RCV001250140 RCV001250136 RCV001250139	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intrahepatic cholestasis	Pathogenic	rs72549398	RCV000414921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive familial intrahepatic cholestasis	Likely pathogenic; Pathogenic	rs139641883, rs1418620415, rs1693467305, rs2545487369, rs11568372, rs72549394, rs769910565, rs188824058, rs763782349, rs778415287, rs772294884, rs917981474, rs1559183717, rs760750012, rs764581483, rs1574445178, rs752043324, rs1463057954	RCV004587264 RCV003155448 RCV002302503 RCV002466795 RCV000403023 RCV003230993 RCV003492026 RCV001805001 RCV003330629 RCV005419652 RCV002509461 RCV001805834 RCV003155301 RCV004586912 RCV005056557 RCV002298815 RCV002298908 RCV004587083	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive familial intrahepatic cholestasis type 1	Likely pathogenic; Pathogenic	rs979738325, rs2545450042	RCV005924327 RCV006269844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive familial intrahepatic cholestasis type 2	Likely pathogenic; Pathogenic	rs769983873, rs755647308, rs748862206, rs1692870573, rs188824058, rs369860506, rs2105891596, rs199671371, rs1231877314, rs979738325, rs913644236, rs139641883, rs1691231110, rs1691171678, rs1470131264, rs1292921760, rs1401892400, rs1210590064, rs1447134419, rs1418620415, rs2105891349, rs2105934712, rs777119489, rs866839234, rs2105967973, rs2105912644, rs769134865, rs2105935255, rs2105947080, rs2105888359, rs2545450715, rs2545376269, rs2545228941, rs765860589, rs201296827, rs1162933116, rs766286901, rs770693935, rs2545491426, rs72549401, rs11568372, rs1553469602, rs387907317, rs387906354, rs752919965, rs72549397, rs72549394, rs769910565, rs147649016, rs758069019, rs886043807, rs72549402, rs72549395, rs763782349, rs2287616, rs1692220779, rs2545299615, rs1163486377, rs2545442611, rs1371940395, rs2545383308, rs1691763747, rs1171005948, rs2545494283, rs373201488, rs1421685722, rs2545272260, rs2545484771, rs2545383010, rs2545237313, rs747888517, rs2545256087, rs2545382762, rs2545450430, rs1356859208, rs375151067, rs766285158, rs751446926, rs2545432325, rs2545389626, rs1326800279, rs959196154, rs2545389014, rs2545345449, rs2545389249, rs2545487249, rs1060499579, rs774824767, rs752992432, rs756529333, rs1553466082, rs72549396, rs772294884, rs917981474, rs1558927163, rs72549399, rs1459273753, rs1559183717, rs760750012, rs1558898789, rs764581483, rs1574453508, rs1574462504, rs774411820, rs1691232631, rs752043324, rs1463057954, rs555881834, rs1691365745, rs1695369774, rs1693198121, rs764125510	RCV003339632 RCV005253843 RCV001831406 RCV002493923 RCV001831384 RCV003319485 RCV005254009 RCV005254016 RCV005016918 RCV005253950 RCV002471196 RCV005253951 RCV004771513 RCV005025517 RCV005253965 RCV005253957 RCV005253962 RCV005253902 RCV005253970 RCV005025526 RCV002246624 RCV005253982 RCV005253945 RCV003448430 RCV002052110 RCV002052252 RCV002052254 RCV002248954 RCV002248955 RCV002251145 RCV002280377 RCV002285213 RCV002285214 RCV002285215 RCV002285216 RCV005254721 RCV003992711 RCV005254715 RCV005254134 RCV000006967 RCV000006968 RCV000006970 RCV000032591 RCV000006972 RCV000006973 RCV000006975 RCV003485866 RCV000779283 RCV005016673 RCV001833374 RCV001828248 RCV000779284 RCV000984920 RCV000763465 RCV001833399 RCV003337899 RCV005254797 RCV005608971 RCV005021982 RCV005021983 RCV005254804 RCV005254807 RCV005254808 RCV005254805 RCV003485957 RCV003485958 RCV003485959 RCV003485960 RCV003485961 RCV003485962 RCV003485963 RCV003485964 RCV003485981 RCV003485982 RCV005254828 RCV005622243 RCV003988131 RCV005254841 RCV005014830 RCV005030176 RCV003985209 RCV003988679 RCV003988734 RCV003989922 RCV003988946 RCV003990237 RCV003994781 RCV000477943 RCV001829648 RCV003319383 RCV005411497 RCV005252985 RCV005252986 RCV001329749 RCV002499353 RCV000985104 RCV002499359 RCV001729696 RCV002477730 RCV005021143 RCV000761413 RCV001825543 RCV005253126 RCV000991367 RCV001274996 RCV001828705 RCV001828781 RCV001836183 RCV005253759 RCV005014261 RCV005253752 RCV005614503 RCV005029842 RCV003485692 RCV003485694 RCV003485691 RCV003485693	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive familial intrahepatic cholestasis type 3	Likely pathogenic; Pathogenic	rs772294884	RCV001261597	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pruritus	Pathogenic	rs72549398	RCV000414921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS OF PREGNANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	—	Disgenet	★★☆☆☆ 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 2	—	CTD	★★☆☆☆ 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 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	22522591		★☆☆☆☆ Found in Text Mining only
Afibrinogenemia	Afibrinogenemia	CTD_human_DG	22120137		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	31296176		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29274321		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	28150711	Associate	★☆☆☆☆ Found in Text Mining only
Benign recurrent intrahepatic cholestasis type 2	Benign Intrahepatic Cholestasis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Biliary Atresia	Biliary Atresia	BEFREE	26449593		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34964797, 35029214	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	26888176		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21655989		★☆☆☆☆ Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease	Carbamoyl Phosphate Synthase Deficiency	BEFREE	27493120		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	32203204	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24462510, 28425419, 29138286, 36995996	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	17452236, 21691113		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18395098, 21691113	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	BEFREE	25323205		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	31886153	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	16941683, 19408031, 24914347, 31169656		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	16941683, 19408031, 20163776, 24914347, 25323205, 31169656		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	31538484, 33893772	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	11179459, 22461449, 24713091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	15077010, 15205115, 15578267, 16941683, 17264802, 18176959, 18692205, 19642168, 19845854, 20028269, 20422494, 20422495, 20422497, 20955958, 21320040, 21490445, 22120137, 23213087, 23446990, 23588305, 23685087, 24115678, 24333169, 24359682, 24375397, 25022842, 25323205, 25771912, 25847799, 26382629, 26516723, 26888176, 26999313, 27050426, 27593105, 27988401, 28027573, 28051334, 28150711, 28214689, 28220208, 28385542, 28527154, 29087027, 29090346, 29309877, 29355600, 29407775, 29412511, 29507376, 29563980, 29934967, 30148122, 31016647, 31016665, 31191298, 31479177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	17241866, 18176959, 18395921, 20683201, 21490445, 23197899, 24115678, 24335466, 25022842, 27050426, 27493120, 27759057, 28027573, 28150711, 30934130, 31886153, 31907698, 32203204, 32646411, 33450190, 33868646, 34348275, 34964797, 35894240, 36291160	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	27538918	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	12052824, 17241866, 22947535, 24969679, 26678486, 31538484, 31630127, 34016879	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	33893772	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	12801961, 12825874, 15077010, 15248112, 16394881, 16890614, 16891356, 17855769, 18176959, 18395921, 18853996, 18987030, 19622974, 19882051, 20422495, 20422497, 23022423, 23142591, 23685087, 24366234, 24402531, 27936482, 28924228, 30614300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis of pregnancy	Cholestasis of pregnancy	ORPHANET_DG	23022423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis progressive familial intrahepatic 1	Cholelithiasis	Pubtator	18798335, 20447715, 25022842, 26678486, 28476903, 29973134, 31296176, 31630127, 33899189, 38607191, 9326328	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis progressive familial intrahepatic 1	Cholelithiasis	Pubtator	36995996	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholestasis progressive familial intrahepatic 2	Cholelithiasis	Pubtator	19750581, 20800306, 21490445, 21766090, 22609309, 24115678, 24969679, 26019043, 27114171, 27239116, 27493120, 28150711, 28425419, 33868646, 33899189, 34794484, 38607191	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 1	Cholestasis	CTD_human_DG	21056966		★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 2	Cholestasis	UNIPROT_DG	15300568, 16039748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, benign recurrent intrahepatic 2	Cholestasis	BEFREE	16039748, 23758865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, benign recurrent intrahepatic 2	Cholestasis	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, benign recurrent intrahepatic 2	Cholestasis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, benign recurrent intrahepatic 2	Cholestasis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, benign recurrent intrahepatic 2	Cholestasis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	Intrahepatic cholestasis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	10579978, 10975791, 12370274, 12717091, 15300568, 15578267, 15768832, 15791618, 15841457, 15946126, 16641580, 16868810, 16871584, 17452236, 17538928, 18049123, 18487280, 18692205, 18798335, 18853996, 19364077, 19642168, 19750581, 19845854, 20232290, 20447715, 20800306, 20955958, 21984474, 22609295, 22609309, 23141890, 23142591, 23685087, 23758865, 24115678, 24530123, 24969679, 25022842, 25085279, 25716872, 25847799, 26019043, 26516723, 27114171, 27239116, 27493120, 28150711, 28425419, 28839429, 29238877, 29507376, 30416103, 31004787, 31296176, 9326328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	CTD_human_DG	21056966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	BEFREE	30250015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	UNIPROT_DG	10579978, 11815775, 24969679, 9806540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	CLINVAR_DG	14672610, 15791618, 16871584, 17855769, 18395098, 19101985, 20583290, 24231640, 25847299, 26678486, 9806540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	BEFREE	15300568, 20414253, 20800306, 21490445, 23758865, 25085279, 25342496, 26516723, 27239116, 27368585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	ORPHANET_DG	15791618, 9806540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	GENOMICS_ENGLAND_DG	27604308, 9806540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestatic liver disease	Cholestatic liver disease	BEFREE	18395098, 20422495, 21039337, 22089923		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	20163776, 24914347		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	15578267, 20883210, 21087209, 21490445, 22522591, 23758865, 28855630, 29755014		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28784620	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	15317749, 26449593		★☆☆☆☆ Found in Text Mining only
Congenital hypofibrinogenemia	Congenital afibrinogenemia	CTD_human_DG	22120137		★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	31630127	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28268190		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19669124, 20628598	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	19797282, 19845854, 26888176, 30664572		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	29563980		★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	20583290	Associate	★☆☆☆☆ Found in Text Mining only
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	BEFREE	29563980		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	27825144	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	26019035	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	26019035		★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	CTD_human_DG	22120137		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	22681771, 28425419, 28855630		★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	20447715	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23758865		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22681771, 28292275	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	28292275, 28860020, 29755014	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	34117631, 35029214	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	21811948		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	30280963		★☆☆☆☆ Found in Text Mining only
Hypercholanemia Familial	Hypercholesterolemia	Pubtator	30250217	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	27511381		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	20858683	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	19669124		★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	20447715	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	19669124	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	26382629		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30250217		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30250217	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	18668439		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	LHGDN	18668439		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	11815775, 16039748, 17241866, 19101985, 21811948, 22947535, 23876151, 24969679, 26666282, 29507376, 30148122		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis	Intrahepatic Cholestasis	LHGDN	16039748, 16290310, 16749857, 19101985		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis	Intrahepatic Cholestasis	CTD_human_DG	18049162		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis	Intrahepatic Cholestasis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	18176959, 18798335, 19750581, 20447715, 22681771, 23197899, 24366234, 25218883, 26640927, 26678486, 27239116, 28924228, 29973134, 30091450, 31538484, 31630127, 32917322, 32942997, 33546617, 34016879, 34794484, 35894240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic cholestasis of pregnancy	Intrahepatic Cholestasis Of Pregnancy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39270538	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15780063, 16871584, 22609295, 23213087, 25016225, 28280721, 28425419		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15578267, 19642168, 20883210, 21087209, 21490445, 22522591, 23758865, 28855630, 29755014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	27543206, 28860020, 29755014	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	25392597	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12052824, 28784620, 31538484, 34348275, 34794484, 35894240, 37208429, 37949847	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36995996	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	20010382, 24335466, 28150711, 32634627, 35029214	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	28150711, 28425419		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23213087		★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	BEFREE	19840255, 24914347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21655989		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18395098		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19669124	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	21386085		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	24375397		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	29218485	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	21490445	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15780063, 29651702		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	20883210, 26019035, 26601667, 28774887		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19265796	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	11783115		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12763363, 14999697, 20857261, 25392597		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	14999697		★☆☆☆☆ Found in Text Mining only
Progressive familial intrahepatic cholestasis type 2	Intrahepatic Cholestasis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	10579978, 10975791, 12370274, 12717091, 15300568, 15578267, 15768832, 15791618, 15841457, 15946126, 16039748, 16641580, 16868810, 16871584, 17452236, 17538928, 18049123, 18487280, 18692205, 18798335, 18853996, 19364077, 19642168, 19750581, 19845854, 19882051, 20232290, 20447715, 20800306, 20955958, 21984474, 22609295, 22609309, 23141890, 23142591, 23685087, 23758865, 23797137, 24115678, 24530123, 24969679, 25085279, 25716872, 25847799, 26019043, 26516723, 27114171, 27239116, 27493120, 28150711, 28425419, 28839429, 29238877, 29316097, 29507376, 30416103, 31004787, 9326328		★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	CLINVAR_DG	17855769, 18395098, 9806540		★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	30250217, 36995996	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	29755014		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	32203204	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26019035, 30250015		★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	26382629		★☆☆☆☆ Found in Text Mining only
Urinary Retention	Urinary retention	Pubtator	12052824	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	19111018		★☆☆☆☆ Found in Text Mining only