NR1H3 (nuclear receptor subfamily 1 group H member 3)

Gene

• Entrez ID: 10062
• Gene name: Nuclear receptor subfamily 1 group H member 3
• Gene symbol: NR1H3
• Synonyms (NCBI Gene): LXR-a, LXRA, RLD-1
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006068	hsa-miR-613	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	21310851
MIRT006068	hsa-miR-613	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	21310851
MIRT006068	hsa-miR-613	ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot	21310851
MIRT006068	hsa-miR-613	Luciferase reporter assay	23496987
MIRT006068	hsa-miR-613	Luciferase reporter assay	23496987
MIRT054618	hsa-miR-206	Luciferase reporter assay, qRT-PCR, Western blot	24603323
MIRT006068	hsa-miR-613	qRT-PCR, Luciferase reporter assay, Western blot	24751522
MIRT006068	hsa-miR-613	qRT-PCR, Luciferase reporter assay, Western blot	24751522

Transcription factors

Transcription factor	Regulation	Reference
PPARG	Unknown	11604492

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
GO:0000785	Component	Chromatin	IDA	18511497
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18511497
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	19229075
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	7744246
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IDA	19481530
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	7744246, 24603323
GO:0005515	Function	Protein binding	IPI	12040021, 15722453, 19481530, 20219900, 20682316, 21516116, 23455924, 24713062, 25416956, 25661920, 25910212, 25962847, 26120082, 26871637, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	25661920
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7744246
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	7744246
GO:0009755	Process	Hormone-mediated signaling pathway	ISS
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IC	17693624
GO:0010745	Process	Negative regulation of macrophage derived foam cell differentiation	IEA
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IEA
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IMP	17693624
GO:0010875	Process	Positive regulation of cholesterol efflux	IBA
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	16141411, 19481530
GO:0010875	Process	Positive regulation of cholesterol efflux	IEA
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	17186944
GO:0010875	Process	Positive regulation of cholesterol efflux	TAS	24603323
GO:0010883	Process	Regulation of lipid storage	IBA
GO:0010887	Process	Negative regulation of cholesterol storage	IEA
GO:0010887	Process	Negative regulation of cholesterol storage	IMP	17693624
GO:0015485	Function	Cholesterol binding	TAS	11090131
GO:0030154	Process	Cell differentiation	IBA
GO:0030522	Process	Intracellular receptor signaling pathway	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0032369	Process	Negative regulation of lipid transport	IEA
GO:0032369	Process	Negative regulation of lipid transport	IMP	17693624
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	16141411
GO:0032570	Process	Response to progesterone	IDA	16141411
GO:0032810	Function	Sterol response element binding	IDA	19628791
GO:0034145	Process	Positive regulation of toll-like receptor 4 signaling pathway	IDA	18511497
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	IEA
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	ISS
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	18511497
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042752	Process	Regulation of circadian rhythm	TAS	18511497
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	7744246
GO:0042789	Process	MRNA transcription by RNA polymerase II	ISS
GO:0043031	Process	Negative regulation of macrophage activation	IEA
GO:0043031	Process	Negative regulation of macrophage activation	ISS
GO:0043235	Component	Receptor complex	IDA	18511497
GO:0043277	Process	Apoptotic cell clearance	IMP	19628791
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IEA
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IMP	17186944
GO:0045861	Process	Negative regulation of proteolysis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	25661920
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19628791
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7744246, 16141411, 18511497, 19481530, 20219900, 20837115
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	17186944, 19229075
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	24603323
GO:0046872	Function	Metal ion binding	IEA
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IDA	23499676
GO:0048550	Process	Negative regulation of pinocytosis	IEA
GO:0048550	Process	Negative regulation of pinocytosis	IMP	17693624
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0055088	Process	Lipid homeostasis	IEA
GO:0055088	Process	Lipid homeostasis	ISS
GO:0055092	Process	Sterol homeostasis	IEA
GO:0055092	Process	Sterol homeostasis	ISS
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	NAS	21268089
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0070328	Process	Triglyceride homeostasis	ISS
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	18511497
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0090188	Process	Negative regulation of pancreatic juice secretion	IEA
GO:0090188	Process	Negative regulation of pancreatic juice secretion	ISS
GO:0090341	Process	Negative regulation of secretion of lysosomal enzymes	IEA
GO:0090341	Process	Negative regulation of secretion of lysosomal enzymes	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	EXP	19167885
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	18511497
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	25416956
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	21173252
GO:1903573	Process	Negative regulation of response to endoplasmic reticulum stress	IEA
GO:1903573	Process	Negative regulation of response to endoplasmic reticulum stress	ISS

Other IDs

• MIM: 602423
• HGNC: 7966
• e!Ensembl: ENSG00000025434

Protein

• UniProt ID: Q13133
• Protein name: Oxysterols receptor LXR-alpha (Liver X receptor alpha) (Nuclear receptor subfamily 1 group H member 3)
• Protein function: Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:19481530, PubMed:25661920, PubMed:37478846). Interaction with retinoic acid receptor (RXR) shifts RXR from its role as a silent DNA-binding partner to
• PDB: 1UHL, 3IPQ, 3IPS, 3IPU, 5AVI, 5AVL, 5HJS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	96 → 165	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	243 → 431	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Visceral organs specific expression. Strong expression was found in liver, kidney and intestine followed by spleen and to a lesser extent the adrenals.
• Sequence:

  MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEA
  AEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKG
  FFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLK
  RQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPM
  APDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLL
  ETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLI
  AISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPRMLMKLVSLRTLSSV
  HSEQVFALRLQDKKLPPLLSEIWDVHE

• Sequence length: 447

Pathways

KEGG:

PPAR signaling pathway
Efferocytosis
Insulin resistance
Non-alcoholic fatty liver disease
Hepatitis C

Reactome:

PPARA activates gene expression
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
VLDLR internalisation and degradation
NR1H2 & NR1H3 regulate gene expression linked to lipogenesis
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake
NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose
NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis
NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis

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
Multiple sclerosis	Pathogenic	rs61731956	RCV000211445	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ 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
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	21356276		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29573196		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32276262	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31829999		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24278306	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24278306	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26026644		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	27367046		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	35703085	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20682172, 21903943, 22683903, 25833686, 27016616, 29505925, 30351048, 30393020, 31140825, 31312392, 31524223		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	16311343, 21625070, 23393188, 23451202, 25833686, 27896567, 36211824	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17628006		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20682172, 21903943, 22683903, 25833686, 27016616, 29505925, 30351048, 30393020, 31140825, 31312392, 31524223		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29420090	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29230000, 33941198	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29024600, 30186406		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	38016947	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25729942, 27070640	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	25867319		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	16941683		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	16941683		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	17256725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronobiology Disorders	Chronobiology disorder	Pubtator	21562465	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31104333		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26753692		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16252156, 21562465, 24533572, 27016616		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16252156, 21562465, 24533572, 27016616		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21562465	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	21562465, 23840567, 27070640	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16252156, 19211025, 21562465, 23840567, 24533572		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	31932555	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Seborrheic	Seborrheic dermatitis	Pubtator	17960176	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31806561		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31806561		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33426085, 33788629, 40691909	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19292929, 21042792, 28871240, 9231657		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33426085	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	26379423		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	40691909	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	LHGDN	17628006		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	21562465, 31775661		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	21562465	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	30705597		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30705597		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29371332	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	20677908, 20840863, 21504366, 22641099, 25187371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty liver	Pubtator	22641099, 25474087, 37385614	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	CTD_human_DG	23651738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallstones	Gallstones	Pubtator	18007013	Stimulate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	29617998	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	20854262		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26753692		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	31775661		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31775661		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	16252156		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	30393020		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30031400, 30351048, 30359008		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21562465		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	34854353	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35151242	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38016947	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23204179		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	21114893	Stimulate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25729942		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36189312	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16647568	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16647568		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29230000		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	35246921	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24886807, 30944547	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	24886807		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30705597		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30817182, 31432166		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21334870, 28139275		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28091828		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	18250151, 29024600		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31670283	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18209740, 24100084, 31670283		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASDB_DG	22399527		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	22399527		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27253441, 27253448, 27764667, 27764668, 27764669, 29801879		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple sclerosis	Pubtator	27253441, 27253448, 27764668, 27764669	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple Sclerosis	CLINVAR_DG	27253448		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myocardial Infarction	Myocardial infarction	Pubtator	21562465, 30413149, 33667626	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	26753692, 28511797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28511797		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31104333		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25187371, 28225186, 28646531, 29702089, 30351048, 30359008, 30673619, 30851372		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27401614		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17108812, 24180251, 31670283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	26449484, 30813326, 31670283	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	19217805, 33415161, 34899727	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23867395		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23867395	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30526541	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21445555	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25005769		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21334870, 28139275		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17416342		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38031260	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19798078, 23965158		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33316779	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25956304		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	19798078		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	20677908, 20840863, 21504366, 22641099, 25187371, 30359008		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	23651738		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28091828		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33637015, 35151242, 38062450	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21562465, 25729942	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38216619	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	21903943		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	29937560		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	36854764	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	29937560		★☆☆☆☆ Found in Text Mining only