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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	5244
Gene name	ATP binding cassette subfamily B member 4
Gene symbol	ABCB4
Synonyms (NCBI Gene)	ABC21GBD1ICP3MDR2MDR2/3MDR3PFIC-3PGY3
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 distinc

Show/Hide all (86)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230029	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs8187802	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs8187808	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs45575636	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs58238559	T>C	Pathogenic, benign, benign-likely-benign	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs61730509	C>T	Uncertain-significance, likely-pathogenic, benign	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs72552778	G>A	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs72552780	G>A,C	Pathogenic	Non coding transcript variant, upstream transcript variant, missense variant, stop gained, genic upstream transcript variant, coding sequence variant
rs121918440	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, stop gained
rs121918441	G>T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918442	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs121918443	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs138773456	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs141677867	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs143456575	A>C,G	Likely-pathogenic, uncertain-significance	Synonymous variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs199504845	A>C,G	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs201498350	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs371394487	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs375315619	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs376926391	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs377160065	G>A	Likely-pathogenic, pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs387906526	TATATAG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs387906527	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906528	CT>TTG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906529	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs397514620	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs533310204	G>A,T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs571555115	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs748842753	G>A,C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs750829010	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs752563752	C>T	Likely-pathogenic	Splice acceptor variant
rs752916287	C>G,T	Uncertain-significance, pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs753104429	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs754287486	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs754565782	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs757693457	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs759202962	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs760153272	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs764513998	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs771437431	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs772823352	C>A	Pathogenic	Splice acceptor variant
rs794727183	C>T	Pathogenic	Splice donor variant
rs863225298	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863225299	C>T	Uncertain-significance, likely-pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs886042562	G>A	Pathogenic	Stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs886043725	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886043734	TC>AT	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1037196284	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1051861187	A>G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1187517509	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1245472904	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1326932143	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1348606984	T>C,G	Pathogenic	Splice acceptor variant
rs1458423947	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1471180323	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1554401324	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, stop gained
rs1554401344	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554407511	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554417376	TTTT>-,TTTTT	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1562945221	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1562949296	C>G	Pathogenic	Splice acceptor variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1562961442	C>T	Pathogenic	Intron variant, splice donor variant
rs1562963055	ACACTGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562965036	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562965098	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562965250	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562975541	TGCGAACCAGGGCA>CCTGAATGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562976061	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562976167	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562983272	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562983531	T>C	Pathogenic	Splice acceptor variant
rs1562988165	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562989885	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs1563009379	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1563012148	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1584665400	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1584671714	->A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1584678508	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1584684209	AT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1584742063	T>G	Likely-pathogenic	Splice acceptor variant
rs1584747270	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1584750653	C>T	Likely-pathogenic	Intron variant
rs1584750660	C>A	Likely-pathogenic	Splice donor variant
rs1584754706	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1584754766	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584763429	G>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all (1)

Transcription factor	Regulation	Reference
NR1H4	Activation	14527955

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	19674157
GO:0005524	Function	ATP binding	IEA
GO:0005548	Function	Phospholipid transporter activity	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	24045840
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	24045840, 24806754
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7912658
GO:0005925	Component	Focal adhesion	IDA
GO:0006629	Process	Lipid metabolic process	TAS	7912658
GO:0006869	Process	Lipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7912658
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	8898203, 15258199, 19674157, 24122873
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	17523162
GO:0032376	Process	Positive regulation of cholesterol transport	IMP	24045840
GO:0032782	Process	Bile acid secretion	IEA
GO:0032782	Process	Bile acid secretion	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	17523162
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IMP	8898203
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS	7912658
GO:0045121	Component	Membrane raft	IEA
GO:0045332	Process	Phospholipid translocation	IBA
GO:0045332	Process	Phospholipid translocation	IDA	8898203
GO:0045332	Process	Phospholipid translocation	IEA
GO:0045332	Process	Phospholipid translocation	IMP	24806754
GO:0046581	Component	Intercellular canaliculus	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0055088	Process	Lipid homeostasis	IDA	17523162
GO:0061092	Process	Positive regulation of phospholipid translocation	IDA	17523162
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090554	Function	Phosphatidylcholine floppase activity	IBA
GO:0090554	Function	Phosphatidylcholine floppase activity	IDA	8898203, 17523162, 31873305
GO:0090554	Function	Phosphatidylcholine floppase activity	IEA
GO:0090554	Function	Phosphatidylcholine floppase activity	IMP	24045840, 24806754
GO:0099038	Function	Ceramide floppase activity	IDA	8898203
GO:0099040	Process	Ceramide translocation	IDA	8898203
GO:0140326	Function	ATPase-coupled intramembrane lipid transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1901557	Process	Response to fenofibrate	IEA
GO:1901557	Process	Response to fenofibrate	ISS
GO:1903413	Process	Cellular response to bile acid	IDA	17523162
GO:2001140	Process	Positive regulation of phospholipid transport	IDA	8898203
GO:2001140	Process	Positive regulation of phospholipid transport	IMP	24045840

MIM	HGNC	e!Ensembl
171060	45	ENSG00000005471

P21439

Protein name

Phosphatidylcholine translocator ABCB4 (EC 7.6.2.1) (ATP-binding cassette sub-family B member 4) (Multidrug resistance protein 3) (P-glycoprotein 3)

Protein function

[Isoform 1]: Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of t

PDB

6S7P , 7NIU , 7NIV , 7NIW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	57 → 345	ABC transporter transmembrane region	Family
PF00005	ABC_tran	412 → 561	ABC transporter	Domain
PF00664	ABC_membrane	711 → 985	ABC transporter transmembrane region	Family
PF00005	ABC_tran	1052 → 1210	ABC transporter	Domain

Sequence

MDLEAAKNGTAWRPTSAEGDFELGISSKQKRKKTKTVKMIGVLTLFRYSDWQDKLFMSLG
TIMAIAHGSGLPLMMIVFGEMTDKFVDTAGNFSFPVNFSLSLLNPGKILEEEMTRYAYYY
SGLGAGVLVAAYIQVSFWTLAAGRQIRKIRQKFFHAILRQEIGWFDINDTTELNTRLTDD
ISKISEGIGDKVGMFFQAVATFFAGFIVGFIRGWKLTLVIMAISPILGLSAAVWAKILSA
FSDKELAAYAKAGAVAEEALGAIRTVIAFGGQNKELERYQKHLENAKEIGIKKAISANIS
MGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSILIGAFSVGQAAPCIDAFANA
RGAAYVIFDIIDNNPKIDSFSERGHKPDSIKGNLEFNDVHFSYPSRANVKILKGLNLKVQ
SGQTVALVGSSGCGKSTTVQLIQRLYDPDEGTINIDGQDIRNFNVNYLREIIGVVSQEPV
LFSTTIAENICYGRGNVTMDEIKKAVKEANAYEFIMKLPQKFDTLVGERGAQLSGGQKQR
IAIARALVRNPKILLLDEATSALDTESEAEVQAALDKAREGRTTIVIAHRLSTVRNADVI
AGFEDGVIVEQGSHSELMKKEGVYFKLVNMQTSGSQIQSEEFELNDEKAATRMAPNGWKS
RLFRHSTQKNLKNSQMCQKSLDVETDGLEANVPPVSFLKVLKLNKTEWPYFVVGTVCAIA
NGGLQPAFSVIFSEIIAIFGPGDDAVKQQKCNIFSLIFLFLGIISFFTFFLQGFTFGKAG
EILTRRLRSMAFKAMLRQDMSWFDDHKNSTGALSTRLATDAAQVQGATGTRLALIAQNIA
NLGTGIIISFIYGWQLTLLLLAVVPIIAVSGIVEMKLLAGNAKRDKKELEAAGKIATEAI
ENIRTVVSLTQERKFESMYVEKLYGPYRNSVQKAHIYGITFSISQAFMYFSYAGCFRFGA
YLIVNGHMRFRDVILVFSAIVFGAVALGHASSFAPDYAKAKLSAAHLFMLFERQPLIDSY
SEEGLKPDKFEGNITFNEVVFNYPTRANVPVLQGLSLEVKKGQTLALVGSSGCGKSTVVQ
LLERFYDPLAGTVFVDFGFQLLDGQEAKKLNVQWLRAQLGIVSQEPILFDCSIAENIAYG
DNSRVVSQDEIVSAAKAANIHPFIETLPHKYETRVGDKGTQLSGGQKQRIAIARALIRQP
QILLLDEATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEH
GTHQQLLAQKGIYFSMVSVQAGTQNL

Sequence length

1286

Interactions

View interactions

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
ABCB4-related disorder	Likely pathogenic; Pathogenic	rs745972631, rs1315110517, rs794727183, rs141677867, rs2546830021, rs753420538, rs1812547805, rs2546841439, rs72552778, rs72552780, rs148279875, rs764513998, rs2546830150, rs2546776163, rs1343667900 View all (8 more)	RCV004536332 RCV004529200 RCV004537374 RCV004537375 RCV004545860 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ABCB4-Related Intrahepatic Cholestasis	Likely pathogenic	rs1051861187	RCV001836649	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestasis, intrahepatic, of pregnancy, 3	Likely pathogenic; Pathogenic	rs1012575668, rs794727183, rs141677867, rs748657435, rs1430830807, rs121918440, rs387906527, rs72552778, rs387906528, rs72552780, rs1809302126, rs2546830150, rs754770911, rs1204857679, rs2546853979 View all (25 more)	RCV005356066 RCV005042372 RCV002500473 RCV005622239 RCV005047631 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial intrahepatic cholestasis type 3	Pathogenic	rs148792791, rs1348610360	RCV001250141 RCV001250142	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic cholestasis	Likely pathogenic	rs2546829869	RCV003329127	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Low phospholipid associated cholelithiasis	Likely pathogenic; Pathogenic	rs1012575668, rs931093296, rs794727183, rs141677867, rs1430830807, rs121918440, rs72552778, rs387906528, rs1809302126, rs1265221541, rs753104429, rs764513998, rs759202962, rs377160065, rs1326932143 View all (4 more)	RCV002249216 RCV002249218 RCV005042372 RCV002500473 RCV005047631 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive familial intrahepatic cholestasis	Likely pathogenic; Pathogenic	rs2546854192, rs748657435, rs72552778, rs754287486, rs764513998, rs1051861187, rs757693457	RCV003155658 RCV004765856 RCV003226159 RCV002282130 RCV002469217 RCV004702389 RCV004702571 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive familial intrahepatic cholestasis type 1	Likely pathogenic; Pathogenic	rs1562945221, rs1562976061, rs377160065, rs1458423947, rs1584747270, rs1584750653	RCV000987904 RCV000987912 RCV000987917 RCV000987911 RCV000987914 RCV000987916 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive familial intrahepatic cholestasis type 3	Likely pathogenic; Pathogenic	rs1012575668, rs794727183, rs141677867, rs2546789793, rs2546751311, rs886042562, rs750829010, rs753420538, rs2546759885, rs2546785095, rs748657435, rs2546735615, rs756419705, rs1812558193, rs2546746413 View all (34 more)	RCV005356066 RCV005042372 RCV001808448 RCV003326046 RCV003227537 View all (45 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (41)

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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGITIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGITIS, SCLEROSING	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS OF PREGNANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ 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, 3	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER DISEASE 1	—	CTD, GenCC, HPO CTD, GenCC, HPO CTD, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM	—	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
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Severe early-childhood-onset retinal dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDT DISEASE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (149)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	8574159, 9150348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1972761, 9150348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	23619268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25888430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	25888430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Flutter	Atrial flutter	Pubtator	25888430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	8241511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	40248383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	BEFREE	11420418, 9126799		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary cirrhosis	Biliary cirrhosis	LHGDN	18671305		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	20040336, 30682444		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	20040336, 30682444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	16373701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	1972761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24272336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29777275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17047076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28220208, 32626542	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25367630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31181191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	Pubtator	15258199, 37488596	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	BEFREE	28220208		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	CTD_human_DG	8698195		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	31886153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	CTD_human_DG	16472600, 29808285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	BEFREE	17295178, 31489648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholecystitis	Cholecystitis	CLINVAR_DG	11313316, 12891548, 15077010, 16890614, 17726488, 21119540, 24381502, 24806754, 26153658, 26699824, 28776642, 9419367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	19408031, 23619268, 24914347, 29635711, 30608254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	12891548, 17187437, 17562004, 19018976, 19408031, 20163776, 23619268, 24914347, 25323205, 25612754, 26410236, 27936482, 29635711, 30608254, 31181191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	17273143, 20537830, 23619268, 25612754, 31538484, 32543870, 36111625, 38135884	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	LHGDN	17562004, 17786139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	11313316, 11343249, 11420418, 15077010, 17264802, 17295178, 17562004, 18482588, 18781607, 19998509, 21989363, 24806754, 24914347, 25323205, 26324191 View all (14 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	12801961, 15258199, 17241866, 18176959, 19266607, 19998509, 20683201, 21989363, 24914347, 30964181, 31886153, 33757843, 34348275, 35894240, 36397154, 36901890, 40248383 View all (2 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	17241866, 19998509, 22947535, 24914347, 25593501, 31538484, 34016879, 34348275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	10767346, 11745043, 12801961, 15077010, 15248112, 16696816, 16890614, 16891356, 17187437, 17295178, 18083082, 18176959, 19261551, 19584064, 20422497 View all (16 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis of pregnancy	Cholestasis of pregnancy	ORPHANET_DG	23022423		★★★★★ ★★☆☆☆ 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	29973134, 32321542, 37488596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis progressive familial intrahepatic 3	Cholelithiasis	Pubtator	17273143, 20537830, 21989363, 25533467, 25593501, 27256251, 31000363, 31040306, 31568708, 31728073, 32321542, 32626542, 33256620, 33650203, 33757843 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, benign recurrent intrahepatic 1	Cholestasis	CTD_human_DG	21056966		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	Intrahepatic cholestasis	UNIPROT_DG	10767346, 12746424, 15077010		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	Intrahepatic cholestasis	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ 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	10198778, 10767346, 11313315, 11420418, 11745043, 15768832, 17295178, 17726488, 19133130, 19185004, 19840255, 20422496, 20955958, 21119540, 21514256 View all (26 more)		★★★★★ ★★☆☆☆ 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 1	Intrahepatic cholestasis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	UNIPROT_DG	11313315, 12671900, 17726488, 21119540, 24045840, 24594635, 24806754, 28012258, 9419367		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	BEFREE	17726488, 26117383, 27788395, 28127842, 30079523, 31000363, 31836711		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	ORPHANET_DG	17726488, 21119540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	CTD_human_DG	22184139, 28552422		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 3	Cholestasis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis	BEFREE	20414253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	18482588, 18781607, 24122873, 26153658, 26324191, 31489648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	11313316, 11745043, 17786139, 19018976, 20163776, 23619268, 24914347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	9150348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	CTD_human_DG	22022477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	18781607, 30872395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1347708, 17107902, 7912754, 8241511, 9150348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18781607, 20422496, 21119540, 30357767, 9126799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29371412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29371412	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	28355206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17107902		★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	CTD_human_DG	22022477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial intrahepatic cholestasis of pregnancy	Cholestasis of pregnancy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	18221819, 8698195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	18482588, 18538673, 25173753, 29125588, 31071368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	GWASCAT_DG	28274756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	32058310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	20537830, 23619268, 40248383	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	19937796, 24272336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20809959, 24272336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11223551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11223551, 35285582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25367630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	31728073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22166890, 25544413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	22504834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	11420418, 17241866, 21119540, 22343912, 22947535, 24914347, 26666282		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis	Intrahepatic Cholestasis	LHGDN	12746424, 17187437, 17726488, 18083082		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis	Intrahepatic Cholestasis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	12801961, 14527955, 16891356, 17273143, 18176959, 19266607, 21989363, 24366234, 25218883, 28924228, 29973134, 30091450, 30449124, 31538484, 31568708 View all (6 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
Jaundice, Obstructive	Jaundice	CTD_human_DG	22022477		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10500781, 1972761, 8574159, 9935209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15780063, 23540693, 25331529, 25401338, 25918251, 27589954, 28189755, 28894223, 29285212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	22022477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	18221819, 8698195		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18781607, 20422496, 21119540, 27936482, 30357767, 9126799		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	29390323, 36397154, 36930494, 38135884, 40248383	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	17273143, 36397154, 37488596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28220208, 30449124, 31538484, 31886153, 33650203, 34348275, 35150476, 35203270, 35894240, 37208429, 40248383	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	BEFREE	21119540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30449124, 36397154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29285212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	UNIPROT_DG	11313316, 12891548, 22331132, 23533021, 24723470, 28012258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	BEFREE	17562004, 19018976, 19840255, 21638239, 21989363, 23533021, 24914347, 25544413, 28587926, 30449124, 31181191, 31538486, 31759867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	ORPHANET_DG	17562004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25367630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29777275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	28274756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28220208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25367630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15547752, 25367630, 28220208, 29734330, 29926435, 30357767, 9935209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	21989363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	35150476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	38226983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21705081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	25246735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15780063, 21705081, 25331529, 25367630, 25401338, 29285212, 29371412, 29734330, 8431845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28061436, 28969102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11172599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	20040336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	20040336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	30641095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	17273143	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	8815917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	8815917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12763363, 14999697, 17295178, 18662272, 18671305, 23704821, 24620780, 26324191, 9126799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	20040336, 30682444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	14999697, 17295178, 26324191, 29698570, 30872395, 31489648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	CTD_human_DG	16472600, 29808285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive familial intrahepatic cholestasis type 3	Intrahepatic Cholestasis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	10198778, 10767346, 11313315, 11420418, 11745043, 15768832, 17295178, 17726488, 19133130, 19185004, 19840255, 20422496, 20955958, 21119540, 21514256 View all (27 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22504834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	BEFREE	9716599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	20040336, 30682444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	22504834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12891548, 17562004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28061436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCB4 (ATP binding cassette subfamily B member 4)