EPHX1 (epoxide hydrolase 1)

Gene

• Entrez ID: 2052
• Gene name: Epoxide hydrolase 1
• Gene symbol: EPHX1
• Synonyms (NCBI Gene): EPHX, EPOX, HYL1, MEH
• Chromosome: 1
• Chromosome location: 1q42.12
• Summary: Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and det

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1051740	T>C	Benign, drug-response, risk-factor	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs2234922	A>G,T	Benign, drug-response	Intron variant, non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016561	hsa-miR-193b-3p	Proteomics	21512034
MIRT030149	hsa-miR-26b-5p	Microarray	19088304
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT966809	hsa-miR-4453	CLIP-seq
MIRT966810	hsa-miR-4538	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT966814	hsa-miR-3184	CLIP-seq
MIRT966815	hsa-miR-423-5p	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT966816	hsa-miR-4417	CLIP-seq
MIRT966817	hsa-miR-4437	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966818	hsa-miR-4674	CLIP-seq
MIRT966819	hsa-miR-4710	CLIP-seq
MIRT966820	hsa-miR-4792	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT1986357	hsa-miR-1207-5p	CLIP-seq
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT1986358	hsa-miR-184	CLIP-seq
MIRT1986359	hsa-miR-1908	CLIP-seq
MIRT1986360	hsa-miR-1909	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT1986361	hsa-miR-3151	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT1986362	hsa-miR-3191	CLIP-seq
MIRT1986363	hsa-miR-338-3p	CLIP-seq
MIRT1986364	hsa-miR-3612	CLIP-seq
MIRT1986365	hsa-miR-3689d	CLIP-seq
MIRT1986366	hsa-miR-3937	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT1986367	hsa-miR-4265	CLIP-seq
MIRT1986368	hsa-miR-4296	CLIP-seq
MIRT1986369	hsa-miR-4322	CLIP-seq
MIRT966816	hsa-miR-4417	CLIP-seq
MIRT966817	hsa-miR-4437	CLIP-seq
MIRT1986370	hsa-miR-4447	CLIP-seq
MIRT966809	hsa-miR-4453	CLIP-seq
MIRT1986371	hsa-miR-4470	CLIP-seq
MIRT1986372	hsa-miR-4472	CLIP-seq
MIRT966810	hsa-miR-4538	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966818	hsa-miR-4674	CLIP-seq
MIRT1986373	hsa-miR-4723-5p	CLIP-seq
MIRT1986374	hsa-miR-4736	CLIP-seq
MIRT1986375	hsa-miR-4763-3p	CLIP-seq
MIRT1986376	hsa-miR-491-5p	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT1986377	hsa-miR-650	CLIP-seq
MIRT1986378	hsa-miR-663	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT966809	hsa-miR-4453	CLIP-seq
MIRT966810	hsa-miR-4538	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004301	Function	Epoxide hydrolase activity	IBA
GO:0004301	Function	Epoxide hydrolase activity	IDA	22798687, 24958911
GO:0004301	Function	Epoxide hydrolase activity	TAS	7516776
GO:0005515	Function	Protein binding	IPI	32814053, 35156780, 36012204
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008142	Function	Oxysterol binding	IEA
GO:0008142	Function	Oxysterol binding	ISS
GO:0009636	Process	Response to toxic substance	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016803	Function	Ether hydrolase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IDA	24958911
GO:0033961	Function	Cis-stilbene-oxide hydrolase activity	IDA	24958911
GO:0033961	Function	Cis-stilbene-oxide hydrolase activity	IEA
GO:0033961	Function	Cis-stilbene-oxide hydrolase activity	TAS
GO:0097176	Process	Epoxide metabolic process	IBA
GO:0097176	Process	Epoxide metabolic process	IDA	22798687
GO:0120253	Process	Hydrocarbon catabolic process	IEA

Other IDs

• MIM: 132810
• HGNC: 3401
• e!Ensembl: ENSG00000143819

Protein

• UniProt ID: P07099
• Protein name: Epoxide hydrolase 1 (EC 3.3.2.9) (Epoxide hydratase) (Microsomal epoxide hydrolase) (mEH)
• Protein function: Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00561	Abhydrolase_1	142 → 405	alpha/beta hydrolase fold	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in liver. {ECO:0000269|PubMed:12878321}.
• Sequence:

  MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEI
  HDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKI
  EGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKNHGLSDEHVFEV
  ICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
  SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
  HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVML
  YWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSAFPFELLHTPEKWVRFKYPKL
  ISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ

• Sequence length: 455

Pathways

KEGG:

Metabolism of xenobiotics by cytochrome P450
Bile secretion
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species

Reactome:

Phase I - Functionalization of compounds

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
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASBESTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic fibrosis	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Decreased total lymphocyte count	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPHX1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPOXIDE HYDROLASE 1 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERCHOLANEMIA	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY NONPOLYPOSIS COLON CANCER	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLANEMIA, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholanemia, familial 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRE-ECLAMPSIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ 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	19593802, 22930568		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	29605894		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	29605894		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	22447130		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11289100, 14988221, 15668489, 18093316		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	17082176, 18093316		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	11289100, 14988221, 15668489, 17082176, 22161138		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22930568		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	20731606		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	21228414		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22994552		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	11124296, 15774926		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38104851	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	24533712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	17711870, 20516053, 21183608, 30293161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	17711870, 18439551, 22610343	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28672935		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18200441, 8752158		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	18200441		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	19657367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	19657367	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	24260161		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	24260161	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15280903, 17416769, 18423013, 22564471, 24840637, 25222243, 25966185, 30539453		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17416769, 18423013, 22564471	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	23648357		★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	BEFREE	15928955		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17695473, 22524818, 26295053	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	7892276	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18200441, 8752158		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	10676631, 12359356, 18383527		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10209943, 10717332, 10732758, 11352855, 11375900, 11551408, 11597790, 11813302, 11815396, 12141066, 12234692, 12915882, 12935919, 15199549, 15640939, 15901990, 16005144, 16357600, 17273734, 17337085, 18258609, 18298806, 18571762, 19479063, 20091863, 21302624, 21649467, 22206016, 22987024, 23055191, 23378225, 23928928, 25222243, 25312477, 9850050		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10732758	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11255266, 11809533, 21480392, 31174441, 8944076		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24013430		★☆☆☆☆ Found in Text Mining only
Centriacinar Emphysema	Pulmonary Emphysema	CTD_human_DG	9288046		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15138035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	15138035		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19593802, 21983886, 22930568		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	21983886		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	17711870		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22994552		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	10193341, 10601573, 10639528, 12234472, 15161530, 15218992, 15702235, 16456143, 16919984, 17203192, 17363767, 17564249, 18461673, 18614560, 20516053, 20932192, 21044285, 21309732, 21651746, 21721950, 21734345, 22118311, 25999707, 27173271, 28464990, 9288046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	15702235, 17363767, 17564249, 18461673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	9288046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	21734345	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10408710		★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINGEN_DG	11758809, 25058500, 7516776		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15924351, 16039674, 18093316, 18768509, 20878130, 20886582, 22352736, 22415791, 22928041		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10408710, 17695473, 18093316, 20886582, 25058500, 28018104	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15924351, 18093316		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11849215, 12935919, 15470755, 16424821, 17685459, 18394656, 19177501, 21097530		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	31348278		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17380322, 31348278		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12631667, 21228703		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	12631667	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22555758		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	21228414		★☆☆☆☆ Found in Text Mining only
Diffuse Mixed-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	11283205, 17212663, 24013430		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	10853854, 17363767, 17686149, 21734345	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15692831, 19952982, 24125961, 24861996, 31164100, 31650507		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26555147, 31164100	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	11255266, 21480392		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12854128, 20659238, 22447130, 23681797, 24222229, 24615030, 24803829, 25714851		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12854128, 20659238, 22447130, 23681797, 24222229, 24615030, 24803829, 25714851		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	12854128, 19360286	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	12854128	Associate	★☆☆☆☆ Found in Text Mining only
Familial hypercholanemia	Hypercholanemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	22610071		★☆☆☆☆ Found in Text Mining only
Focal Emphysema	Emphysema	CTD_human_DG	9288046		★☆☆☆☆ Found in Text Mining only
Follicular Cyst	Follicular cyst	Pubtator	23651475	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	12491039, 18383527, 18425322, 25923690		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31348278	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	24013430		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	17296285	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	17296285	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	CLINGEN_DG	11758809, 25058500, 7516776		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	11758809, 25058500, 7516776		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	11758809, 25058500, 7516776		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	11758809, 25058500, 7516776		★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Hypercholanemia Familial	Hypercholesterolemia	Pubtator	12878321, 25992604	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholanemia, Familial	Hypercholanemia	GENOMICS_ENGLAND_DG	12704386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholanemia, Familial	Hypercholanemia	ORPHANET_DG	12878321, 25992604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholanemia, Familial	Hypercholanemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	31143115		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	32728162	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19017876, 30867055	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21228703		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34342583	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	34638773	Associate	★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	21983886		★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	LHGDN	12359356		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16284498		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39300580	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11849215, 22930568, 29605894, 30644597		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	29605894		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21453055		★☆☆☆☆ Found in Text Mining only
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	34342583	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10817627, 11440964, 12085365, 12579257, 12907637, 15734960, 18816171, 19754350, 23451147, 23955801, 31566711, 8944076		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12085365, 18816171		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	7892276		★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	17564249		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	21734345	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10601573, 12915882, 15901990, 18298806, 37965333	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	12915882, 15640939, 17273734, 18298806, 18571762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17114358, 17311802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31222024		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	31222024		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28672935		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	CTD_human_DG	11406608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	12397416, 23651475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	23651475, 33883344	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Diffuse	Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Lymphoma, Intermediate-Grade	Intermediate Grade Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell	Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Noncleaved-Cell	Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Lymphoma, Undifferentiated	Lymphoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	15774926	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	12491039, 18383527, 18425322, 25923690		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	16697254		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	16697254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15280903, 17416769, 22564471, 24840637, 25222243, 30539453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	12854128, 20659238, 22447130, 23681797, 24222229, 24615030, 24803829, 25714851		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	10676631, 12359356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10209943, 10717332, 10732758, 11352855, 11375900, 11551408, 11597790, 11813302, 11815396, 12141066, 12234692, 12915882, 12935919, 15199549, 15640939, 15901990, 16005144, 16357600, 17273734, 17337085, 18258609, 18298806, 18571762, 19479063, 20091863, 21302624, 21649467, 22206016, 22987024, 23055191, 23378225, 23928928, 25222243, 25312477, 9850050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17114358, 17311802		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21453055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11255266, 11809533, 31174441, 8944076		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16614120, 17919073, 21716162, 22103900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17919073, 21716162, 24763052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	26295053		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	26295053		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17164366		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18200441, 8752158		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11122850, 11597790, 12419832, 12935919, 15924351, 16005144, 16697254, 18406439, 18571762, 18816171, 19287329, 19754350, 21445251, 21653646, 25261893, 26216302, 30633570		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15138035		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10408710		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22994552		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22994552	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16949155, 19657367, 19736056		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	CTD_human_DG	16949155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	19657367	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	17380322, 29298899		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	29298899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	11255266, 17082176, 17273734, 17548691, 9014203		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15640939, 17273734		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	15838728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	LHGDN	15838728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral cleft	Oral cleft	BEFREE	11471167		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	10676631		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11255266, 11809533, 31174441, 8944076		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	11809533		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21480392	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21480392	Associate	★☆☆☆☆ Found in Text Mining only
Panacinar Emphysema	Panacinar emphysema	CTD_human_DG	9288046		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	19287329		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22301281	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	19287329		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11692079		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	12798882, 24505354		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	12798882, 24505354	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	11489754, 16926176, 21598178		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	19593802		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	21983886		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16614120, 17919073, 21716162, 22103900		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	14719475	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17919073, 21716162, 24763052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	10601573, 10639528, 15218992, 15702235, 15817713, 16456143, 17363767, 18461673, 19017876, 19111454, 20525719, 21044285, 21309732, 21734345, 22118311, 22976395, 25999707, 27193053, 27421065, 34707353	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	10193341, 10853854, 11281420, 17363767, 17686149, 21734345, 9288046		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	CTD_human_DG	9288046		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	17564249		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	17564249		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	17711870	Associate	★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	CTD_human_DG	11406608		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	24861996		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31164100	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	26295053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	26295053	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	10732758		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	14669306, 16029924, 17173682, 18406439, 22447130, 30633570		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	10732758		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12491039, 20568895		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	24861996		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17164366		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	24861996		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11283205		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21228703		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19252927, 22524818	Associate	★☆☆☆☆ Found in Text Mining only