NR1H4 (nuclear receptor subfamily 1 group H member 4)

Gene

• Entrez ID: 9971
• Gene name: Nuclear receptor subfamily 1 group H member 4
• Gene symbol: NR1H4
• Synonyms (NCBI Gene): BAR, FXR, HRR-1, HRR1, PFIC5, RIP14
• Chromosome: 12
• Chromosome location: 12q23.1
• Summary: This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113090017	C>A,G,T	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, intron variant, coding sequence variant, missense variant
rs137946171	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs140648896	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs770757947	->A	Likely-pathogenic	Downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs879255644	->AAA	Pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant
rs1322754256	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant
rs1555335324	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs1555335782	G>A	Likely-pathogenic	Splice donor variant
rs1566464880	A>G	Likely-pathogenic	Missense variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs1593114820	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054133	hsa-miR-92a-3p	Luciferase reporter assay, qRT-PCR, Western blot	25095974
MIRT054133	hsa-miR-92a-3p	Luciferase reporter assay, qRT-PCR, Western blot	25095974
MIRT731905	hsa-miR-192-3p	Luciferase reporter assay	27079614
MIRT731905	hsa-miR-192-3p	Luciferase reporter assay	27079614
MIRT756465	hsa-miR-382-5p	Luciferase reporter assay	34712060
MIRT1192152	hsa-miR-28-5p	CLIP-seq
MIRT1192153	hsa-miR-3139	CLIP-seq
MIRT1192154	hsa-miR-4517	CLIP-seq
MIRT1192155	hsa-miR-4633-3p	CLIP-seq
MIRT1192156	hsa-miR-4712-3p	CLIP-seq
MIRT1192157	hsa-miR-708	CLIP-seq
MIRT2582440	hsa-miR-3938	CLIP-seq
MIRT2582441	hsa-miR-4254	CLIP-seq
MIRT2582442	hsa-miR-4292	CLIP-seq
MIRT2582443	hsa-miR-4308	CLIP-seq
MIRT2582444	hsa-miR-670	CLIP-seq
MIRT2582440	hsa-miR-3938	CLIP-seq
MIRT2582441	hsa-miR-4254	CLIP-seq
MIRT2582442	hsa-miR-4292	CLIP-seq
MIRT2582443	hsa-miR-4308	CLIP-seq
MIRT2582444	hsa-miR-670	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EP300	Repression	18842595
IRF6	Unknown	12525500
IRF7	Unknown	23372731
NR0B1	Repression	21856289
STAT1	Repression	19393742

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	21757002
GO:0000785	Component	Chromatin	IC	27471003
GO:0000785	Component	Chromatin	ISA
GO:0000791	Component	Euchromatin	IDA	21757002
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	26888176
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23767959
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	21757002
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21757002
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001221	Function	Transcription coregulator binding	IPI	14701856
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	21757002, 24211198, 27471003
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9223286
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IDA	27471003
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	10334993
GO:0005515	Function	Protein binding	IPI	12917342, 14684751, 14698205, 15317749, 18391212, 19833092, 21532585, 22345554, 25675114, 26871637, 28514442, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	26888176
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10334992
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007043	Process	Cell-cell junction assembly	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IDA	27471003
GO:0010903	Process	Negative regulation of very-low-density lipoprotein particle remodeling	IEA
GO:0010988	Process	Regulation of low-density lipoprotein particle clearance	IDA	12660231
GO:0015721	Process	Bile acid and bile salt transport	TAS
GO:0016607	Component	Nuclear speck	IDA
GO:0016922	Function	Nuclear receptor binding	TAS	21757002
GO:0030154	Process	Cell differentiation	IBA
GO:0030522	Process	Intracellular receptor signaling pathway	IBA
GO:0032052	Function	Bile acid binding	IBA
GO:0032052	Function	Bile acid binding	IDA	21757002, 23767959
GO:0032052	Function	Bile acid binding	IEA
GO:0032689	Process	Negative regulation of type II interferon production	IDA	21242261
GO:0032689	Process	Negative regulation of type II interferon production	IEA
GO:0032692	Process	Negative regulation of interleukin-1 production	IEA
GO:0032703	Process	Negative regulation of interleukin-2 production	IEA
GO:0032715	Process	Negative regulation of interleukin-6 production	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	21242261
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032740	Process	Positive regulation of interleukin-17 production	IDA	21242261
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IEA
GO:0034255	Process	Regulation of urea metabolic process	IEA
GO:0034255	Process	Regulation of urea metabolic process	ISS	21757002
GO:0035356	Process	Intracellular triglyceride homeostasis	IDA	20447400
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0038185	Process	Nuclear receptor-mediated bile acid signaling pathway	IDA	10334992, 21757002
GO:0038185	Process	Nuclear receptor-mediated bile acid signaling pathway	IEA
GO:0038185	Process	Nuclear receptor-mediated bile acid signaling pathway	TAS	23767959
GO:0038186	Function	Bile acid nuclear receptor activity	IDA	10334992, 21757002, 23767959
GO:0038186	Function	Bile acid nuclear receptor activity	IEA
GO:0038186	Function	Bile acid nuclear receptor activity	TAS
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	20447400
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	21242261
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IEA
GO:0043235	Component	Receptor complex	IDA	10334992
GO:0043565	Function	Sequence-specific DNA binding	IDA	12815072
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	27471003
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23767959
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21757002
GO:0046628	Process	Positive regulation of insulin receptor signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046965	Function	Nuclear retinoid X receptor binding	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0055089	Process	Fatty acid homeostasis	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IDA	20447400
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0070857	Process	Regulation of bile acid biosynthetic process	TAS	21757002
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071398	Process	Cellular response to fatty acid	IDA	20447400
GO:0071638	Process	Negative regulation of monocyte chemotactic protein-1 production	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	TAS	21757002
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:1902122	Function	Chenodeoxycholic acid binding	IDA	10334992
GO:1903413	Process	Cellular response to bile acid	IDA	10334992, 21757002
GO:1903413	Process	Cellular response to bile acid	IEA
GO:1903413	Process	Cellular response to bile acid	IMP	23767959
GO:1904179	Process	Positive regulation of adipose tissue development	IEA
GO:1905695	Process	Positive regulation of phosphatidic acid biosynthetic process	IDA	23767959
GO:2000213	Process	Positive regulation of glutamate metabolic process	IEA
GO:2000213	Process	Positive regulation of glutamate metabolic process	ISS	21757002
GO:2001250	Process	Positive regulation of ammonia assimilation cycle	IEA

Other IDs

• MIM: 603826
• HGNC: 7967
• e!Ensembl: ENSG00000012504

Protein

• UniProt ID: Q96RI1
• Protein name: Bile acid receptor (Farnesoid X-activated receptor) (Farnesol receptor HRR-1) (Nuclear receptor subfamily 1 group H member 4) (Retinoid X receptor-interacting protein 14) (RXR-interacting protein 14)
• Protein function: Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of gen
• PDB: 1OSH, 3BEJ, 3DCT, 3DCU, 3FLI, 3FXV, 3GD2, 3HC5, 3HC6, 3L1B, 3OKH, 3OKI, 3OLF, 3OMK, 3OMM, 3OOF, 3OOK, 3P88, 3P89, 3RUT, 3RUU, 3RVF, 4OIV, 4QE8, 4WVD, 5IAW, 5ICK, 5Q0I, 5Q0J, 5Q0K, 5Q0L, 5Q0M, 5Q0N, 5Q0O, 5Q0P, 5Q0Q, 5Q0R, 5Q0S, 5Q0T, 5Q0U, 5Q0V, 5Q0W, 5Q0X, 5Q0Y, 5Q0Z, 5Q10, 5Q11, 5Q12, 5Q13, 5Q14, 5Q15
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	135 → 204	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	289 → 471	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver and hepatocyte-related cells express mainly FXRalpha1-type isoforms with isoform 3 and isoform 4 in approximately equal proportions. In intestine and kidney mainly FXRalpha2-type isoforms are expressed with isoform 1 and isoform
• Sequence:

  MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYS
  NVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTK
  KPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAVYKCKNGGNCV
  MDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEG
  RDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLI
  LTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSD
  LLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEK
  LQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLC
  EIWDVQ

• Sequence length: 486

Pathways

KEGG:

Bile secretion

Reactome:

Recycling of bile acids and salts
Synthesis of bile acids and bile salts
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
PPARA activates gene expression
Endogenous sterols
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors

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
Cholestasis, progressive familial intrahepatic, 5	Likely pathogenic; Pathogenic	rs1251445242, rs1555335782, rs879255644, rs113090017, rs2500820482, rs2500723504, rs1313639936, rs1593114820	RCV001824258 RCV002244148 RCV000239480 RCV000239570 RCV003492890 RCV003492891 RCV004557240 RCV005860114 RCV000991448	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NR1H4-related disorder	Pathogenic; Likely pathogenic	rs879255644, rs113090017, rs1555335782	RCV004754355 RCV004754356 RCV004754482	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive familial intrahepatic cholestasis type 1	Pathogenic	rs879255644, rs113090017	RCV000240839 RCV000240831	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, 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
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXTRAVASATION OF DIAGNOSTIC AND THERAPEUTIC MATERIALS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	25470824		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17054793		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	19926617, 21525435, 24025864, 28293080		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26609171		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	29730159, 30803859		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31070281		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29976576, 30013964, 30026549, 30996006		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31670489	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29976576, 30013964, 30026549, 30996006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	30996006		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Epithelium	Barrett Epithelium	BEFREE	18510604		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	17054793		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	17054793	Stimulate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	19920191, 30268789		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	27511066	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	22146319		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	26888176	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23061909, 26899873, 28993998		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16439808, 17047076, 21499302, 26545738, 32650752	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27079614, 30787420, 35449124	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34995680	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15604525, 22446874, 23680185, 26165647, 28496032, 28970500, 29958417, 36982249, 37774075	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30787420, 34995680	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28496032, 36123627	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35931808	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23341777	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35347542	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31085240		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30048741, 31812977		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	38266922	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28916388, 30677052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28008998	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	17931734, 25242139, 30393515		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	16506961, 17931734, 25242139, 26045277, 30393515		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	12718893, 18327154, 21330447, 21633855, 23142591, 23546875, 25798860, 25943116, 26888176, 27003131, 28553227, 29080340, 29360226, 29649907, 30373117, 30393515, 30964181, 31196636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	LHGDN	16423920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	19187229, 26888176, 28008998, 30778102, 30964181, 32001325	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	22461449, 23178280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	25798860	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	17681172, 23142591, 24366234, 24498169, 26045277		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	ORPHANET_DG	23142591		★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	23142591, 26888176, 30367658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5	Intrahepatic cholestasis	ORPHANET_DG	26888176		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5	Intrahepatic cholestasis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5	Intrahepatic cholestasis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5	Intrahepatic cholestasis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestatic liver disease	Cholestatic liver disease	BEFREE	11607932, 24954360, 29356312		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	16506961, 17931734		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23644527		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	23189156	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	22929053, 35348180	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27079614, 28969019		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24177031, 27079614	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	26609171		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24177031, 25596928, 32299194, 34995680, 35348180, 35449124, 36129029	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36340269	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28916388, 30677052		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29299069, 31043634		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	CTD_human_DG	21829567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	21887309, 23189156	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	32024859, 32678214	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20060466, 25664662		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19059462, 29717168	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20060466, 25664662		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35348180	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35046895, 38309826	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21565989, 25664662, 26134028, 30517894, 31387746, 9709965		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	31085240		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37337149	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	26655953, 31759089		★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	BEFREE	31812977		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	17047076		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28338522		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	29717168	Associate	★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	26888176		★☆☆☆☆ Found in Text Mining only
Enterocolitis Necrotizing	Enterocolitis	Pubtator	36371157	Associate	★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	BEFREE	30467994		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33686512	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	LHGDN	17054793		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	17054793	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	LHGDN	19195631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	26019035, 36735888	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	27351453, 30484681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	CTD_human_DG	29142166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	26019035	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	29717168, 31388096, 31670489	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	26159280, 27773935, 28190475, 28746779, 29375205, 29765319, 30206765, 31388096		★☆☆☆☆ Found in Text Mining only
Fibroatheroma	Fibroatheroma	CTD_human_DG	30996006		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19910507, 29530598		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	10912798, 8668200		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	BEFREE	21883702		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	27167107	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	15810076, 32597704	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	33686512	Associate	★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	31095947		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	38429422	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29299069, 31043634		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31062417	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	28535186		★☆☆☆☆ Found in Text Mining only
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	Homocystinuria	BEFREE	30408316		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	27510297	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31672964		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	30397356	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	22474125		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	12718893, 30605678		★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	31062417	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	12519787	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19187229	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	28286762		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21887309		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21887309, 32024859	Inhibit	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21887309, 22929053, 39490736	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24105372		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	CTD_human_DG	23178280		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	34510400, 39490736	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	CTD_human_DG	23178280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis	Intrahepatic Cholestasis	LHGDN	15317749, 17681172		★☆☆☆☆ Found in Text Mining only
Intrahepatic cholestasis of pregnancy	Intrahepatic Cholestasis Of Pregnancy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	24366234, 24498169, 26888176, 31482549, 35436901	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	24763552	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	35348180	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27853248	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31298930, 31493504		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22446874, 24465162, 27738335		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	23811326, 25496033		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	26293907, 30275017	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	19059462, 29717168, 31062417, 31670489, 36558100, 37208429	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	19187229	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	23178280, 24091600, 24189133, 29142166, 30556042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	23680185, 24465162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	23680185, 37774075	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	28949776		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28650277, 31295761		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21364590, 23653380	Stimulate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23061909, 26899873, 28993998		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	23178280, 24091600, 24189133, 29142166, 30556042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25596928, 28535186		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28402278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27409173		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18930786, 20940394, 21678469, 27006468, 27079614, 28416481, 28969019, 31070281		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28969019		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17333335		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	20619465		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	25725071, 30397356, 31670489	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29633919, 30135133, 30259754, 31253637, 9709965		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29633919		★☆☆☆☆ Found in Text Mining only
Methylenetetrahydrofolate reductase deficiency	Methylenetetrahydrofolate Reductase Deficiency	BEFREE	30408316		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22265968	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	1666018		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25669983	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	33299887	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30467994		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20309934, 26899873, 27738335, 28402278, 28535186, 28916388, 29651702		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19121815		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26159280, 28746779, 28867301, 28951211, 29649907, 29706895, 29860219, 30095299, 31308634, 31341422, 31442319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	29142166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	23507574, 29375205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	29142166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	10999801, 12395215, 18346809, 21565989, 30013964, 31288013, 9709965		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35348180	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	18346809		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	30799246		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30536462		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31779647	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28402278		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21364590, 23653380, 28402278	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	28692147		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30219060		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29513389		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	29513389		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29513389		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31173497	Associate	★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	26159280, 31196639		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	27696157, 30928103		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	20811628, 27696157, 29310470		★☆☆☆☆ Found in Text Mining only
Progressive familial intrahepatic cholestasis type 5	Intrahepatic Cholestasis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	14988830, 23142591, 26888176, 30367658		★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	CLINVAR_DG	21633855, 26888176		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	35348180	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36924977	Associate	★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21829567		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31298930		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27189492		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28380377		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23341777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	27351453, 30484681, 30807179		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	29142166		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23238937, 25095974, 34510400	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21887309		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35563650	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35347542	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35347542	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	15576845	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	15576845		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	LHGDN	15576845		★☆☆☆☆ Found in Text Mining only