NR1H2 (nuclear receptor subfamily 1 group H member 2)

Gene

• Entrez ID: 7376
• Gene name: Nuclear receptor subfamily 1 group H member 2
• Gene symbol: NR1H2
• Synonyms (NCBI Gene): LXR-b, LXRB, NER, NER-I, RIP15, UNR
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducibl

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025788	hsa-miR-7-5p	Microarray	17612493
MIRT040136	hsa-miR-615-3p	CLASH	23622248
MIRT724633	hsa-miR-1292-3p	HITS-CLIP	19536157
MIRT724632	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT724633	hsa-miR-1292-3p	HITS-CLIP	19536157
MIRT724632	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT1192133	hsa-miR-1237	CLIP-seq
MIRT1192134	hsa-miR-1299	CLIP-seq
MIRT1192135	hsa-miR-18a	CLIP-seq
MIRT1192136	hsa-miR-18b	CLIP-seq
MIRT1192137	hsa-miR-3127-3p	CLIP-seq
MIRT1192138	hsa-miR-3649	CLIP-seq
MIRT1192139	hsa-miR-4432	CLIP-seq
MIRT1192140	hsa-miR-4520a-5p	CLIP-seq
MIRT1192141	hsa-miR-4520b-5p	CLIP-seq
MIRT1192142	hsa-miR-4735-3p	CLIP-seq
MIRT1192143	hsa-miR-4761-5p	CLIP-seq
MIRT1192144	hsa-miR-4772-3p	CLIP-seq
MIRT1192145	hsa-miR-4782-5p	CLIP-seq
MIRT1192146	hsa-miR-492	CLIP-seq
MIRT1192147	hsa-miR-5096	CLIP-seq
MIRT1192148	hsa-miR-516b	CLIP-seq
MIRT1192149	hsa-miR-7	CLIP-seq
MIRT1192150	hsa-miR-720	CLIP-seq
MIRT1192151	hsa-miR-875-3p	CLIP-seq
MIRT1556742	hsa-miR-3690	CLIP-seq
MIRT1192135	hsa-miR-18a	CLIP-seq
MIRT1192136	hsa-miR-18b	CLIP-seq
MIRT2284550	hsa-miR-296-5p	CLIP-seq
MIRT2284551	hsa-miR-3125	CLIP-seq
MIRT1192137	hsa-miR-3127-3p	CLIP-seq
MIRT2284552	hsa-miR-3179	CLIP-seq
MIRT2284553	hsa-miR-342-5p	CLIP-seq
MIRT2284554	hsa-miR-3916	CLIP-seq
MIRT2284555	hsa-miR-3918	CLIP-seq
MIRT2284556	hsa-miR-3936	CLIP-seq
MIRT2284557	hsa-miR-4476	CLIP-seq
MIRT1192140	hsa-miR-4520a-5p	CLIP-seq
MIRT1192141	hsa-miR-4520b-5p	CLIP-seq
MIRT2284558	hsa-miR-4664-5p	CLIP-seq
MIRT2284559	hsa-miR-4685-5p	CLIP-seq
MIRT2284560	hsa-miR-4686	CLIP-seq
MIRT1192142	hsa-miR-4735-3p	CLIP-seq
MIRT1192143	hsa-miR-4761-5p	CLIP-seq
MIRT2284561	hsa-miR-939	CLIP-seq
MIRT1192137	hsa-miR-3127-3p	CLIP-seq
MIRT1192138	hsa-miR-3649	CLIP-seq
MIRT1192144	hsa-miR-4772-3p	CLIP-seq
MIRT1192146	hsa-miR-492	CLIP-seq
MIRT1192147	hsa-miR-5096	CLIP-seq
MIRT1192137	hsa-miR-3127-3p	CLIP-seq
MIRT1192138	hsa-miR-3649	CLIP-seq
MIRT1192144	hsa-miR-4772-3p	CLIP-seq
MIRT1192146	hsa-miR-492	CLIP-seq
MIRT1192147	hsa-miR-5096	CLIP-seq

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:0000785	Component	Chromatin	ISA
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	9013544
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	IDA	9013544
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	7926814
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	7926814
GO:0005515	Function	Protein binding	IPI	12393874, 15722453, 16189514, 19060904, 20211142, 21331046, 21900206, 24561505, 25661920, 26120082, 28514442, 31515488, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12393874
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	12393874
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	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	ISS
GO:0009755	Process	Hormone-mediated signaling pathway	NAS	27011007
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
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	17186944
GO:0010875	Process	Positive regulation of cholesterol efflux	IBA
GO:0010875	Process	Positive regulation of cholesterol efflux	IEA
GO:0010875	Process	Positive regulation of cholesterol efflux	IMP	17186944
GO:0010883	Process	Regulation of lipid storage	IBA
GO:0010884	Process	Positive regulation of lipid storage	IEA
GO:0010887	Process	Negative regulation of cholesterol storage	IEA
GO:0010887	Process	Negative regulation of cholesterol storage	IMP	17693624
GO:0030154	Process	Cell differentiation	IBA
GO:0030522	Process	Intracellular receptor signaling pathway	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031667	Process	Response to nutrient levels	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:0034191	Function	Apolipoprotein A-I receptor binding	IPI	23931754
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	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042789	Process	MRNA transcription by RNA polymerase II	ISS
GO:0042789	Process	MRNA transcription by RNA polymerase II	NAS	27011007
GO:0043565	Function	Sequence-specific DNA binding	IEA
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	IDA	12393874
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	25661920
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9013544, 16141411, 20219900
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
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	27011007
GO:0046872	Function	Metal ion binding	IEA
GO:0046965	Function	Nuclear retinoid X receptor binding	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IEA
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:0051117	Function	ATPase binding	IPI	23931754
GO:0055088	Process	Lipid homeostasis	IEA
GO:0060336	Process	Negative regulation of type II interferon-mediated signaling pathway	NAS	21268089
GO:0090108	Process	Positive regulation of high-density lipoprotein particle assembly	IEA
GO:0090187	Process	Positive regulation of pancreatic juice secretion	IEA
GO:0090340	Process	Positive regulation of secretion of lysosomal enzymes	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	27011007
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	21173252
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
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: 600380
• HGNC: 7965
• e!Ensembl: ENSG00000131408

Protein

• UniProt ID: P55055
• Protein name: Oxysterols receptor LXR-beta (Liver X receptor beta) (Nuclear receptor NER) (Nuclear receptor subfamily 1 group H member 2) (Ubiquitously-expressed nuclear receptor)
• Protein function: Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing
• PDB: 1P8D, 1PQ6, 1PQ9, 1PQC, 1UPV, 1UPW, 3KFC, 3L0E, 4DK7, 4DK8, 4NQA, 4RAK, 5HJP, 5I4V, 5JY3, 5KYA, 5KYJ, 6JIO, 6K9G, 6K9H, 6K9M, 6S4N, 6S4T, 6S4U, 6S5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	85 → 156	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	256 → 444	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MSSPTTSSLDTPLPGNGPPQPGAPSSSPTVKEEGPEPWPGGPDPDVPGTDEASSACSTDW
  VIPDPEEEPERKRKKGPAPKMLGHELCRVCGDKASGFHYNVLSCEGCKGFFRRSVVRGGA
  RRYACRGGGTCQMDAFMRRKCQQCRLRKCKEAGMREQCVLSEEQIRKKKIRKQQQESQSQ
  SQSPVGPQGSSSSASGPGASPGGSEAGSQGSGEGEGVQLTAAQELMIQQLVAAQLQCNKR
  SFSDQPKVTPWPLGADPQSRDARQQRFAHFTELAIISVQEIVDFAKQVPGFLQLGREDQI
  ALLKASTIEIMLLETARRYNHETECITFLKDFTYSKDDFHRAGLQVEFINPIFEFSRAMR
  RLGLDDAEYALLIAINIFSADRPNVQEPGRVEALQQPYVEALLSYTRIKRPQDQLRFPRM
  LMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE

• Sequence length: 460

Pathways

KEGG:

Efferocytosis
Insulin resistance

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

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30376844		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18478337		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30376844		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26263968		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28763470		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	22529354		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	28099631	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	22529354		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23717417	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder exstrophy	Pubtator	37509153	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16537713, 17728339, 21692063, 22927776, 25535740		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16399771, 17932351, 20183911, 21622940, 23776089, 28704967		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32075687, 37059993	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23838803	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11689286		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16537713, 17728339, 21692063, 22927776, 25535740		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19444904, 24563277, 24582975, 26617899		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16550608, 31195348		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	25209577		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12915808, 21385444, 29719287		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17825393		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17825393		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30376844		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	17256725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNS disorder	CNS Disorder	BEFREE	24662928		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10688865, 12509261, 12867068, 14668933, 18927284, 20100872, 22466611, 23216312, 23683874, 30065996, 30195642		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	11496330, 11689286, 20470425		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21245992	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20470425		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17119055, 21559836, 22294771, 22581836, 29568775, 31104333, 31568607		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20836841, 26450852, 33294438	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17685459		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	23683874		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18711149		★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	20470425		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28099631		★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	31932555	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19292929, 20939869	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19292929, 20939869, 21042792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	27062014		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21750170, 30705597		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29371332	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10961618		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29719287		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19270000		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19270000		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	27437943		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	27437943		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	23838803, 24863943	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	23838803	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31664073	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23720401		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	40108621	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28624040		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	33028190	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29447944		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21245992	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9893669		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31647372		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17575242		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	28894088		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15922480, 28927051		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21147110		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24463447	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29654801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	23679317		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23720401		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16399771, 17932351, 20183911, 21622940, 23776089, 28704967		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21750170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19270000		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	19444904, 24563277, 24582975, 26617899		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16550608, 31195348		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	17575242		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12915808, 21385444		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26617894		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18026184, 22102698, 22382185, 24933002, 27974699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	18470933, 19953607, 20457011, 27058533		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24769428, 26191265, 26722542, 26760766, 27340861		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16537713, 17728339, 21692063, 22927776, 25535740		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11496330, 11689286, 17575242, 18393219, 20679224, 21466822, 22294771, 23216312, 23335232, 24366067, 25115435, 25274682, 26967386, 27908735, 28854356, 30065996		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17825393		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20470425		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	22466611		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17210993, 20807809, 23407396, 23760049, 27908735		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24100084		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30898137		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12399970		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21625209		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11496330, 11689286, 16769089, 20470425, 21385444, 22966016, 28982861, 31202724, 31843141, 8973600		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	22529354, 23726220, 28894088, 31766220		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	12509261		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21075476, 28342452, 28878296		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17108812, 20939869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20939869	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	BEFREE	31371497		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	29630930		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19217805	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25755792, 26339355, 26436406		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12915808, 21385444		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30526541	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26617894		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21951066	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28099631		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18026184, 22102698, 22382185, 24933002, 27974699		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18711149		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22197612		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	17687452, 22336945		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31195348		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11496330, 16103444		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26831662, 27246611, 30035334		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	23335232		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28379545, 29528139		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	8675803		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24769428, 26191265, 26722542, 26760766, 27340861		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32814418	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32814418	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	10961618		★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	BEFREE	10961618		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	10688865, 18676829, 30065996		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31432185	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21245992		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	29654801		★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	22466611, 30065996, 30195642		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	25965418		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	25965418		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10688865, 11496330, 11689286, 12427537, 12867068, 14668933, 15471894, 16550608, 17498315, 18470933, 18927284, 18955168, 20221251, 21390502, 21751198, 23303275, 24366067, 24704021, 25209577, 25393472, 25795128, 28916831, 30065996, 31838380		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum and Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	BEFREE	25500814		★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	10488153, 17682058, 18053706, 23216312, 23604128, 24366067, 29283431, 29660033, 9372923		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	20431719, 29362353		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	16540648, 20431719, 24366067, 28552776		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	23216312		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, variant type	Xeroderma Pigmentosum	BEFREE	20457011		★☆☆☆☆ Found in Text Mining only