EPHX2 (epoxide hydrolase 2)

Gene

• Entrez ID: 2053
• Gene name: Epoxide hydrolase 2
• Gene symbol: EPHX2
• Synonyms (NCBI Gene): ABHD20, CEH, SEH
• Chromosome: 8
• Chromosome location: 8p21.2-p21.1
• Summary: This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial h

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs751141	G>A	Risk-factor	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT690137	hsa-miR-5683	HITS-CLIP	23313552
MIRT690136	hsa-miR-4700-3p	HITS-CLIP	23313552
MIRT690135	hsa-miR-1197	HITS-CLIP	23313552
MIRT690134	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT690133	hsa-miR-4436a	HITS-CLIP	23313552
MIRT690132	hsa-miR-5000-3p	HITS-CLIP	23313552
MIRT690131	hsa-miR-600	HITS-CLIP	23313552
MIRT690130	hsa-miR-3117-5p	HITS-CLIP	23313552
MIRT690129	hsa-miR-2116-5p	HITS-CLIP	23313552
MIRT690128	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT690127	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT661586	hsa-miR-29a-3p	HITS-CLIP	23824327
MIRT661585	hsa-miR-29b-3p	HITS-CLIP	23824327
MIRT661584	hsa-miR-29c-3p	HITS-CLIP	23824327
MIRT661583	hsa-miR-6871-3p	HITS-CLIP	23824327
MIRT661582	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT661581	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT661580	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT661579	hsa-miR-1470	HITS-CLIP	23824327
MIRT661578	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT661577	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661576	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661575	hsa-miR-4469	HITS-CLIP	23824327
MIRT661574	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT661573	hsa-miR-4287	HITS-CLIP	23824327
MIRT661572	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661571	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT661570	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT661569	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT661568	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT661567	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT661566	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT661565	hsa-miR-5682	HITS-CLIP	23824327
MIRT661564	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT661563	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT661562	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT661561	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT661560	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT661559	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT661558	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT690137	hsa-miR-5683	HITS-CLIP	23313552
MIRT690136	hsa-miR-4700-3p	HITS-CLIP	23313552
MIRT690135	hsa-miR-1197	HITS-CLIP	23313552
MIRT690134	hsa-miR-4778-5p	HITS-CLIP	23313552
MIRT690133	hsa-miR-4436a	HITS-CLIP	23313552
MIRT690132	hsa-miR-5000-3p	HITS-CLIP	23313552
MIRT690131	hsa-miR-600	HITS-CLIP	23313552
MIRT690130	hsa-miR-3117-5p	HITS-CLIP	23313552
MIRT690129	hsa-miR-2116-5p	HITS-CLIP	23313552
MIRT690128	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT690127	hsa-miR-4743-3p	HITS-CLIP	23313552
MIRT661586	hsa-miR-29a-3p	HITS-CLIP	23824327
MIRT661585	hsa-miR-29b-3p	HITS-CLIP	23824327
MIRT661584	hsa-miR-29c-3p	HITS-CLIP	23824327
MIRT661583	hsa-miR-6871-3p	HITS-CLIP	23824327
MIRT661582	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT661581	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT661580	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT661579	hsa-miR-1470	HITS-CLIP	23824327
MIRT661578	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT661577	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT661576	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT661575	hsa-miR-4469	HITS-CLIP	23824327
MIRT661574	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT661573	hsa-miR-4287	HITS-CLIP	23824327
MIRT661572	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT661571	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT661570	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT661569	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT661568	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT661567	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT661566	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT661565	hsa-miR-5682	HITS-CLIP	23824327
MIRT661564	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT661563	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT661562	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT661561	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT661560	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT661559	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT661558	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT966821	hsa-miR-103a	CLIP-seq
MIRT966822	hsa-miR-107	CLIP-seq
MIRT966823	hsa-miR-15a	CLIP-seq
MIRT966824	hsa-miR-15b	CLIP-seq
MIRT966825	hsa-miR-16	CLIP-seq
MIRT966826	hsa-miR-195	CLIP-seq
MIRT966827	hsa-miR-424	CLIP-seq
MIRT966828	hsa-miR-4530	CLIP-seq
MIRT966829	hsa-miR-497	CLIP-seq
MIRT2220939	hsa-miR-3192	CLIP-seq
MIRT2220940	hsa-miR-326	CLIP-seq
MIRT2220941	hsa-miR-330-5p	CLIP-seq
MIRT2220942	hsa-miR-4314	CLIP-seq
MIRT2220943	hsa-miR-4646-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IBA
GO:0000287	Function	Magnesium ion binding	IDA	12574510
GO:0001558	Process	Regulation of cell growth	TAS	24681163
GO:0003824	Function	Catalytic activity	IEA
GO:0004301	Function	Epoxide hydrolase activity	IDA	8342951, 10862610, 21217101, 22798687
GO:0004301	Function	Epoxide hydrolase activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	16314446, 18513744
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IDA	8342951, 16314446, 18513744
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18974052
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0015643	Function	Toxic substance binding	IDA	15096040
GO:0016311	Process	Dephosphorylation	IDA	12574508, 22217705
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IDA	12574508, 15196990, 24681163
GO:0033885	Function	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity	IEA
GO:0042577	Function	Lipid phosphatase activity	IBA
GO:0042577	Function	Lipid phosphatase activity	IDA	12574510
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	18974052
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	15096040, 18513744
GO:0046272	Process	Stilbene catabolic process	IDA	8342951
GO:0046839	Process	Phospholipid dephosphorylation	IBA
GO:0046839	Process	Phospholipid dephosphorylation	IDA	12574510
GO:0046872	Function	Metal ion binding	IEA
GO:0052642	Function	Lysophosphatidic acid phosphatase activity	IDA	22217705, 22387545
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0090181	Process	Regulation of cholesterol metabolic process	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	IMP	18974052
GO:0097176	Process	Epoxide metabolic process	IDA	21217101, 22798687
GO:0097176	Process	Epoxide metabolic process	IEA

Other IDs

• MIM: 132811
• HGNC: 3402
• e!Ensembl: ENSG00000120915

Protein

• UniProt ID: P34913
• Protein name: Bifunctional epoxide hydrolase 2 [Includes: Cytosolic epoxide hydrolase 2 (CEH) (EC 3.3.2.10) (Epoxide hydratase) (Soluble epoxide hydrolase) (SEH); Lipid-phosphate phosphatase (EC 3.1.3.76)]
• Protein function: Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12574510, PubMed:12869654, PubMed:22798687). Plays a role in xenobiotic metabolis
• PDB: 1S8O, 1VJ5, 1ZD2, 1ZD3, 1ZD4, 1ZD5, 3ANS, 3ANT, 3I1Y, 3I28, 3KOO, 3OTQ, 3PDC, 3WK4, 3WK5, 3WK6, 3WK7, 3WK8, 3WK9, 3WKA, 3WKB, 3WKC, 3WKD, 3WKE, 4C4X, 4C4Y, 4C4Z, 4HAI, 4J03, 4JNC, 4OCZ, 4OD0, 4X6X, 4X6Y, 4Y2J, 4Y2P, 4Y2Q, 4Y2R, 4Y2S, 4Y2T, 4Y2U, 4Y2V, 4Y2X, 4Y2Y, 5AHX, 5AI0, 5AI4, 5AI5, 5AI6, 5AI8, 5AI9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00702	Hydrolase	3 → 197		Domain
  PF00561	Abhydrolase_1	259 → 531	alpha/beta hydrolase fold	Domain

• Sequence:

  MTLRAAVFDLDGVLALPAVFGVLGRTEEALALPRGLLNDAFQKGGPEGATTRLMKGEITL
  SQWIPLMEENCRKCSETAKVCLPKNFSIKEIFDKAISARKINRPMLQAALMLRKKGFTTA
  ILTNTWLDDRAERDGLAQLMCELKMHFDFLIESCQVGMVKPEPQIYKFLLDTLKASPSEV
  VFLDDIGANLKPARDLGMVTILVQDTDTALKELEKVTGIQLLNTPAPLPTSCNPSDMSHG
  YVTVKPRVRLHFVELGSGPAVCLCHGFPESWYSWRYQIPALAQAGYRVLAMDMKGYGESS
  APPEIEEYCMEVLCKEMVTFLDKLGLSQAVFIGHDWGGMLVWYMALFYPERVRAVASLNT
  PFIPANPNMSPLESIKANPVFDYQLYFQEPGVAEAELEQNLSRTFKSLFRASDESVLSMH
  KVCEAGGLFVNSPEEPSLSRMVTEEEIQFYVQQFKKSGFRGPLNWYRNMERNWKWACKSL
  GRKILIPALMVTAEKDFVLVPQMSQHMEDWIPHLKRGHIEDCGHWTQMDKPTEVNQILIK
  WLDSDARNPPVVSKM

• Sequence length: 555

Pathways

KEGG:

Arachidonic acid metabolism
Metabolic pathways
Peroxisome
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species

Reactome:

Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Biosynthesis of maresins
Peroxisomal protein import

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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPHX2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, familial, 1	Uncertain significance; risk factor	ClinVar CTD, ClinVar CTD, ClinVar	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	30096423		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	26165641		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30637249		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37349091	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29777097		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	25216066	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	23999524, 25824304, 28232135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia Nervosa	Anorexia nervosa	Pubtator	23999524, 25824304, 28232135	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	36233100	Inhibit	★☆☆☆☆ Found in Text Mining only
Arcus Senilis	Arcus Senilis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16115816, 16545818, 16595607, 20425256		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	22986331		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31670489	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	11842228, 22525341, 23305094, 23466098, 34040693	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16115816, 16545818, 16595607, 20425256		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16545818		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	23711456		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	30890645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	32339103	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Ischemia	Brain ischemia	Pubtator	25216066	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25406731, 27150055, 33020551	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31545220, 34278494, 35236335	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23370545		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36475868, 38297313	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16595607, 17460077, 18537101, 19940276, 20425256, 20433684, 21098312, 21642892, 21704394, 30096423		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	16595607, 18537101, 24771868, 28460522, 30096423, 34040693	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18537101		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	18537101, 26686738, 37247449	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	16115816, 18216721, 25216066, 25947240, 27087514, 28409162, 28835580, 37247449	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17460077		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17460077, 18323494		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	23466098	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28552948		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28028752		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25277097	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34564978, 38179743	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	18443590, 20433684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	18443590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16595607, 20065888, 21642892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	16595607, 20065888, 21642892		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18537101, 22503544	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	16595607, 19814804	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16595607, 19814804, 20065888, 21642892		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	31002701		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29735655		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	31801286	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32339103	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	31801286, 37370090	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22503544	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30885203	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28409162, 29629376, 30885203	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29615440, 29629376		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29629376, 34040693, 34545296	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22739108, 29629376		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	38448299	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	28669871		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	25966114		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25966114	Associate	★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	31670489	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	30400724		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	21429967		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	21429967	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	21429967, 29717935	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36475868	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35404482	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	18443590, 20433684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	18443590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	18443590		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25406731	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	14673705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	28757338		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	37565868	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	14673705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	11842228, 19814804, 28460522, 34040693, 38448299	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	17495027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	19814804, 20065888, 30296490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21429967		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31002701		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	38007425	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16115816, 18216721, 18323494, 19940276, 20065888, 25839935, 28835580		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	28835580	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	28552948, 36475868, 38448299	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	38448299	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	26165641		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	28552948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	18443590		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	30761004		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31670489	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23370545	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31222024		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31222024		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31222024		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31222024		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31222024		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19654554		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29407524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	23370545		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29699060, 30394143, 31262891		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21281786		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26785143, 30400724		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	31670489	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25173047	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25173047		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	18443590		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	22525341	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29298899		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19940276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	22525341	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	29298899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	25406731		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28835580	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32192153	Stimulate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	22986331		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	35404482	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29699060, 30394143, 31262891		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11692079		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29735655		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21281786		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21281786, 32687069	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	29717935	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26965288	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28028752		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29206762		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31479425		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	30509266		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26976569, 29407524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	30890645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	32339103	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29802697	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	18319271, 25216066, 37247449	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	23466098, 30885203	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	21429967	Associate	★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only