CYP2C19 (cytochrome P450 family 2 subfamily C member 19)

Gene

• Entrez ID: 1557
• Gene name: Cytochrome P450 family 2 subfamily C member 19
• Gene symbol: CYP2C19
• Synonyms (NCBI Gene): CPCJ, CYP2C, CYPIIC17, CYPIIC19, P450C2C, P450IIC19
• Chromosome: 10
• Chromosome location: 10q23.33
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein local

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4244285	G>A,C	Other, drug-response, likely-benign	Coding sequence variant, synonymous variant
rs4986893	G>A	Other, drug-response	Coding sequence variant, stop gained
rs6413438	C>T	Drug-response	Coding sequence variant, missense variant
rs7902257	G>A	Drug-response	Upstream transcript variant
rs12248560	C>A,T	Other, drug-response, benign	Upstream transcript variant
rs12769205	A>G	Drug-response	Intron variant
rs17878739	T>C	Drug-response	Upstream transcript variant
rs17879685	C>G,T	Drug-response	Missense variant, coding sequence variant
rs17882687	A>C	Drug-response, benign	Missense variant, coding sequence variant
rs17884712	G>A,C	Drug-response	Missense variant, coding sequence variant
rs28399504	A>G,T	Drug-response, other, likely-benign	Missense variant, initiator codon variant
rs41291556	T>C	Drug-response, other	Missense variant, coding sequence variant
rs55640102	A>C,T	Drug-response	Stop lost, terminator codon variant
rs55752064	T>A,C	Drug-response	Missense variant, coding sequence variant
rs56337013	C>T	Drug-response, other	Missense variant, coding sequence variant
rs58973490	G>A	Drug-response	Missense variant, coding sequence variant
rs72552267	G>A	Drug-response	Missense variant, coding sequence variant
rs72558186	T>A,C	Drug-response	Splice donor variant
rs111490789	C>A	Drug-response	Upstream transcript variant
rs113934938	G>A	Drug-response	Missense variant, coding sequence variant
rs118203756	G>C	Drug-response	Missense variant, coding sequence variant
rs118203757	G>A	Drug-response	Missense variant, coding sequence variant
rs118203759	C>A,G	Drug-response	Missense variant, coding sequence variant
rs138142612	G>A	Drug-response	Missense variant, coding sequence variant
rs140278421	G>A,C,T	Drug-response	Missense variant, coding sequence variant
rs145328984	C>A,T	Drug-response	Missense variant, coding sequence variant
rs192154563	C>G,T	Drug-response	Coding sequence variant, missense variant
rs367543001	G>A	Drug-response	5 prime UTR variant
rs367543002	C>T	Drug-response	Coding sequence variant, missense variant
rs367543003	T>C	Drug-response	Coding sequence variant, missense variant
rs370803989	G>A	Drug-response	Coding sequence variant, missense variant
rs375781227	G>A,C	Drug-response	Coding sequence variant, missense variant
rs377184510	A>G	Drug-response	Coding sequence variant, synonymous variant
rs1288601658	A>G,T	Drug-response	Coding sequence variant, missense variant
rs1564656981	A>T	Drug-response	Missense variant, coding sequence variant
rs1564657013	A>G	Drug-response	Missense variant, coding sequence variant
rs1564660997	C>T	Drug-response	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	22012620
MIRT528535	hsa-miR-938	PAR-CLIP	22012620
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	22012620
MIRT528533	hsa-miR-145-5p	PAR-CLIP	22012620
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	22012620
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	22012620
MIRT528530	hsa-miR-874-3p	PAR-CLIP	22012620
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	22012620
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	22012620
MIRT456013	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT456012	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT456011	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT456010	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT456009	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT456008	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT456007	hsa-miR-4459	PAR-CLIP	23592263
MIRT456006	hsa-miR-665	PAR-CLIP	23592263
MIRT456005	hsa-miR-5186	PAR-CLIP	23592263
MIRT456004	hsa-miR-4537	PAR-CLIP	23592263
MIRT456003	hsa-miR-6134	PAR-CLIP	23592263
MIRT456002	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT456001	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT456000	hsa-miR-4683	PAR-CLIP	23592263
MIRT455999	hsa-miR-3689d	PAR-CLIP	23592263
MIRT455998	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT455997	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT455996	hsa-miR-7703	PAR-CLIP	23592263
MIRT455995	hsa-miR-4325	PAR-CLIP	23592263
MIRT455994	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT455993	hsa-miR-1270	PAR-CLIP	23592263
MIRT455992	hsa-miR-620	PAR-CLIP	23592263
MIRT455991	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT731396	hsa-miR-29a-3p	EMSA, Luciferase reporter assay, qRT-PCR, Western blot	26296572
MIRT731396	hsa-miR-29a-3p	EMSA, Luciferase reporter assay, qRT-PCR, Western blot	26296572
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	26701625
MIRT528533	hsa-miR-145-5p	PAR-CLIP	26701625
MIRT528533	hsa-miR-145-5p	PAR-CLIP	26701625
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	26701625
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	26701625
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	26701625
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	26701625
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	26701625
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	26701625
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	26701625
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	26701625
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	26701625
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	26701625
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	26701625
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	26701625
MIRT528530	hsa-miR-874-3p	PAR-CLIP	26701625
MIRT528530	hsa-miR-874-3p	PAR-CLIP	26701625
MIRT528535	hsa-miR-938	PAR-CLIP	26701625
MIRT528535	hsa-miR-938	PAR-CLIP	26701625
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	27292025
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	27292025
MIRT528533	hsa-miR-145-5p	PAR-CLIP	27292025
MIRT528533	hsa-miR-145-5p	PAR-CLIP	27292025
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	27292025
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	27292025
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	27292025
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	27292025
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	27292025
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	27292025
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	27292025
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	27292025
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	27292025
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	27292025
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	27292025
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	27292025
MIRT528530	hsa-miR-874-3p	PAR-CLIP	27292025
MIRT528530	hsa-miR-874-3p	PAR-CLIP	27292025
MIRT528535	hsa-miR-938	PAR-CLIP	27292025
MIRT528535	hsa-miR-938	PAR-CLIP	27292025
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	20371350
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	20371350
MIRT528535	hsa-miR-938	PAR-CLIP	20371350
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	20371350
MIRT528533	hsa-miR-145-5p	PAR-CLIP	20371350
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	20371350
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	20371350
MIRT528530	hsa-miR-874-3p	PAR-CLIP	20371350
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	20371350
MIRT528537	hsa-miR-10b-3p	PAR-CLIP	22012620
MIRT528536	hsa-miR-6780b-3p	PAR-CLIP	22012620
MIRT528535	hsa-miR-938	PAR-CLIP	22012620
MIRT528534	hsa-miR-6886-3p	PAR-CLIP	22012620
MIRT528533	hsa-miR-145-5p	PAR-CLIP	22012620
MIRT528532	hsa-miR-5195-3p	PAR-CLIP	22012620
MIRT528531	hsa-miR-3157-3p	PAR-CLIP	22012620
MIRT528530	hsa-miR-874-3p	PAR-CLIP	22012620
MIRT528529	hsa-miR-3912-5p	PAR-CLIP	22012620
MIRT528528	hsa-miR-3180-5p	PAR-CLIP	22012620
MIRT456013	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT456012	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT456011	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT456010	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT456009	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT456008	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT456007	hsa-miR-4459	PAR-CLIP	23592263
MIRT456006	hsa-miR-665	PAR-CLIP	23592263
MIRT456005	hsa-miR-5186	PAR-CLIP	23592263
MIRT456004	hsa-miR-4537	PAR-CLIP	23592263
MIRT456003	hsa-miR-6134	PAR-CLIP	23592263
MIRT456002	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT456001	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT456000	hsa-miR-4683	PAR-CLIP	23592263
MIRT455999	hsa-miR-3689d	PAR-CLIP	23592263
MIRT455998	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT455997	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT455996	hsa-miR-7703	PAR-CLIP	23592263
MIRT455995	hsa-miR-4325	PAR-CLIP	23592263
MIRT455994	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT455993	hsa-miR-1270	PAR-CLIP	23592263
MIRT455992	hsa-miR-620	PAR-CLIP	23592263
MIRT455991	hsa-miR-6516-5p	PAR-CLIP	23592263

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Repression	20675569

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	18577768
GO:0004497	Function	Monooxygenase activity	IDA	19651758
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004497	Function	Monooxygenase activity	TAS	8110777
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006721	Process	Terpenoid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IDA	19219744, 19651758
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008395	Function	Steroid hydroxylase activity	IMP	18356043
GO:0016020	Component	Membrane	IEA
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	16401082, 19219744
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0018675	Function	(S)-limonene 6-monooxygenase activity	IEA
GO:0018676	Function	(S)-limonene 7-monooxygenase activity	IEA
GO:0019373	Process	Epoxygenase P450 pathway	IBA
GO:0019373	Process	Epoxygenase P450 pathway	TAS
GO:0019825	Function	Oxygen binding	TAS	3442670
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	23118231
GO:0020037	Function	Heme binding	IEA
GO:0032787	Process	Monocarboxylic acid metabolic process	IEA
GO:0042178	Process	Xenobiotic catabolic process	IBA
GO:0042178	Process	Xenobiotic catabolic process	IDA	19029318
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	3442670
GO:0046872	Function	Metal ion binding	IEA
GO:0052741	Function	(R)-limonene 6-monooxygenase activity	IEA
GO:0097267	Process	Omega-hydroxylase P450 pathway	TAS
GO:0120319	Function	Long-chain fatty acid omega-1 hydroxylase activity	IDA	18577768

Other IDs

• MIM: 124020
• HGNC: 2621
• e!Ensembl: ENSG00000165841

Protein

• UniProt ID: P33261
• Protein name: Cytochrome P450 2C19 (EC 1.14.14.1) ((R)-limonene 6-monooxygenase) (EC 1.14.14.53) ((S)-limonene 6-monooxygenase) (EC 1.14.14.51) ((S)-limonene 7-monooxygenase) (EC 1.14.14.52) (CYPIIC17) (CYPIIC19) (Cytochrome P450-11A) (Cytochrome P450-254C) (Fenbendazo
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing
• PDB: 4GQS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	30 → 487	Cytochrome P450	Domain

• Sequence:

  MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKI
  YGPVFTLYFGLERMVVLHGYEVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRW
  KEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASPCDPTFILGCAPCNVICS
  IIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFM
  ESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTE
  TTSTTLRYALLLLLKHPEVTAKVQEEIERVVGRNRSPCMQDRGHMPYTDAVVHEVQRYID
  LIPTSLPHAVTCDVKFRNYLIPKGTTILTSLTSVLHDNKEFPNPEMFDPRHFLDEGGNFK
  KSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNLKSLIDPKDLDTTPVVNGFASVP
  PFYQLCFIPV

• Sequence length: 490

Pathways

KEGG:

Arachidonic acid metabolism
Linoleic acid metabolism
Drug metabolism - cytochrome P450
Metabolic pathways
Serotonergic synapse
Chemical carcinogenesis - DNA adducts

Reactome:

Xenobiotics
CYP2E1 reactions
Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)

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
Acute coronary syndrome	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, 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
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clopidogrel response	Likely benign; other; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP2C19: decreased function	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP2C19: increased function	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP2C19: no function	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP2C19: normal function	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP2C19: uncertain function	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEPHENYTOIN, POOR METABOLISM OF	Likely benign; other; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGUANIL, POOR METABOLISM OF	Likely benign; other; drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
warfarin response - Dosage	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	24615745		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	LHGDN	18394438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	18781853, 19337788, 20801498, 21778720, 21803320, 22116003, 22364155, 22377481, 22974536, 23137413, 23148794, 23257377, 23506580, 24192573, 24279856, 24856643, 25051347, 25542807, 25583161, 26108379, 26218263, 26265611, 26398625, 26521100, 26916483, 27323099, 27924429, 27977637, 28117433, 28473221, 29243114, 29279531, 29804887, 29936693, 30193195, 30760018, 31128980, 31141104, 31658140, 31772608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	19814645		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11037802		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	26233624		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	18957504	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32607875	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28095090		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23877834		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31359356		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	27551817	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	20831548, 27551817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angina Pectoris	Angina pectoris	Pubtator	26147597	Associate	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	25156215	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	20492467	Associate	★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	20492467, 23993903		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23877834, 24347450, 30837874		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	34523245	Inhibit	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23877834, 24347450, 30837874		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	38493365	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17868191		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	12713578	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	12713578		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21160212, 23623526, 25844821, 30659924		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	21160212, 25844821	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17868191		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17868191		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32644829	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24919870, 27356304, 29478129, 30233700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	27356304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26313485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	8890945		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21543025		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17269966, 27875029		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	27875029	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	20549256		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	36698099, 38377518	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15222046, 8752158		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15222046		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	18482659, 18577829, 19706858, 22007612, 23971745, 25008027, 25329996, 26147597, 26521100, 26961113, 27072325, 27977637, 30098132, 31643039, 35418564, 35929455, 38083918	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	24877854, 26265611, 26338921, 26916483, 27137706, 31128980, 32840598, 35144415, 35176816, 35699175, 36792180, 38387302	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14759713, 18024866, 18279059, 18521743, 19156902, 19415745, 21047200, 21830868, 21961651, 22180071, 22702493, 23736997, 23781139, 25339025, 25466287, 26799162, 28798474, 29938344		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18423013, 20102361, 22180071, 23781139, 25466287, 26799162, 29479969, 33432065, 37688505	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Diseases	Bronchial disease	Pubtator	21160212	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Digestive System	Gastric Cancer	BEFREE	23874401		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24906606, 25024626, 25288013, 25921128, 27203676, 29479826, 34863035, 39193514	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15222046, 8752158		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	22183943		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11488523, 15222046, 24510350		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22077251		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19106084, 19706858, 20492467, 22390861, 23074110, 23981380, 25381554, 26147597, 26521100, 26993229, 27368038, 27663770, 29397568, 29936693, 32216088, 32759249, 34506827, 37045502, 37202608, 37551775, 39472784	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	CTD_human_DG	20978260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22088980, 22757746, 23074110, 23981380, 24782221, 25489921, 26522758, 29023376, 29350207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	33745326	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	27411384		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	33611730, 40670064	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24330577, 25207801, 27133299, 27137706, 27233747, 27637911, 28064328, 31006731, 31134829, 32176040, 32644829, 32759249, 33121452, 33246208, 33611730, 34903548, 35249906, 35727586, 37279000, 37795861, 39472784, 39725012	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31134829		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20492467, 23640828, 23849748, 23922007, 24330577, 25030528, 25207801, 25529343, 26019129, 26763917, 26916483, 27348249, 27806998, 29520080, 29707143, 29901608, 30742211, 30932939, 30974489, 31237713		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	21786436, 23849748, 25381554		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	21786436, 35144415	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	29718219		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	15248218		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25201060, 28990182		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	16239354		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11021356, 16239354, 20457439, 25024626		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21317201, 21490239, 24527758, 27127120		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	18957504, 26970786		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	18957504, 26970786		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15467211		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	26993229	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19429918, 19576320, 20845077, 21079055, 21392617, 21476972, 21693476, 21816733, 22071359, 22118006, 22123356, 22591668, 23337798, 23922147, 23981380, 24402637, 24535487, 24608794, 24723553, 25008027, 25329996, 25823779, 25891840, 26071277, 26727381, 27488401, 28473221, 28687336, 28783717, 30403317, 30868490		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19429918, 19576320, 20460345, 20845077, 21079055, 21178986, 21392617, 21476972, 21693476, 21816733, 21862109, 22071359, 22118006, 22123356, 22591668, 23337798, 23830212, 23922147, 23981380, 24262617, 24402637, 24535487, 24608794, 24624918, 24723553, 24821368, 25008027, 25264752, 25329996, 25823779, 25891840, 26071277, 26311225, 26727381, 27213804, 27488401, 27915083, 28473221, 28687336, 28783717, 29257922, 30096456, 30403317, 30868490		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	19429918, 20460345, 21786436, 22118006, 24581091, 25008027, 25156215, 32702814, 32764090, 32840598, 35929455, 37070954, 40295977	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	21168310, 23981380, 26958179, 27488401, 27663770, 28783717, 33327349, 38286794	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19429918, 19576320, 20845077, 21079055, 21168310, 21392617, 21693476, 21816733, 22071359, 22118006, 22123356, 22591668, 23337798, 23922147, 23981380, 24402637, 24535487, 24608794, 24723553, 25008027, 25329996, 25823779, 25891840, 26054681, 26071277, 26727381, 27488401, 28473221, 28687336, 28783717, 30403317, 30868490		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	24330577, 24877854, 32109992	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21038076		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	11412815, 21192344, 21926427, 27895323, 28470111, 29570504, 30837874, 31120287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	11412815, 16812949, 21192344, 21926427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	33048453, 34435592, 34523245	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	36333412, 36698099	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21108610, 26520003, 28664816		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20510210, 21108610, 24821368, 25051347, 26520003, 27009617, 28473221, 28664816, 29922082, 30073432, 31018667		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20510210, 22385219, 27661054, 39472784	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29439084, 34656068, 39436079	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36734157	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20549497, 21939641, 22837373, 24113215, 24608794, 28473221, 28954402, 29023376		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	24113215		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	28817838	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	27417579		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	14615467, 18765869		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	LHGDN	16908943		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	8593788		★☆☆☆☆ Found in Text Mining only
Dyspepsia	Dysphasia	Pubtator	31030500	Associate	★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	20236133		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19499406, 20113968, 21497341, 24796765, 25403437		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19499406, 24796765, 25403437	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	31490856		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	31490856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	10805060, 17304159, 19415824, 20064729, 21985811, 22966884, 24345815, 25323806, 26122019, 29804481, 8874828, 9333104, 9860067		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32868386	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	24819914		★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	BEFREE	20826260, 22785462		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	15222046		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	15222046	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22984423, 25927305	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	20804307, 26580676		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	28373773, 33048453	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	23074110, 28513222		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	23074110, 28513222	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	16960452, 17627038		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	12235924, 16133961		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	10616772, 19942749, 25605208, 26730167		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	25605208, 26730167, 33048453, 36284359	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	23801863	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	16268979, 23801863		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	24366288, 27782887, 28373773	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	12386647, 12823155, 15016609, 15245569, 15988117, 16338278, 17559380, 17725594, 17924835, 18765869, 19259653, 22873740, 26580676, 28373773, 28884817, 29193126, 30050742, 30659924		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	LHGDN	17924835		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	26456622	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	37143396	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	40022682	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	26822491		★☆☆☆☆ Found in Text Mining only
Gonadotropin-Resistant Ovary Syndrome	Gonadotropin-Resistant Ovary Syndrome	CTD_human_DG	15248218		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	36211438	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	18644391		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10886124, 38083918	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15467211		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24519754		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	22260716, 23257377, 24762860, 26521100, 29701129, 29936693, 30742211, 31128980, 34506827, 35172619, 36503270, 36697242, 36792180, 36890711	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25921128	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	25921128	Associate	★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	BEFREE	18702650		★☆☆☆☆ Found in Text Mining only
Hypergonadotropic Ovarian Failure, X-Linked	Premature ovarian failure	CTD_human_DG	15248218		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	24330577		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20460345, 21332417, 27663770, 35016407, 37024851, 39472784	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17597703, 20460345, 21332417, 25986599, 26993229, 27133299, 28473221, 28513222, 28899749, 29098786, 29554005, 31807051		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	27661054	Associate	★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	26970786		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21971440		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	24819914		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	23801863	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	27634953, 29382029		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	29382029	Associate	★☆☆☆☆ Found in Text Mining only
Intrinsic Factor Deficiency	Intrinsic Factor Deficiency	BEFREE	25558073		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	26587656, 29901608, 30742211, 31171523, 33065552, 33246208, 33411687, 33727661, 33795788, 35727586, 36535779, 36697242, 37279000, 37429630, 37795861, 40701985	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23640828, 24080325, 25030528, 25457586, 25489921, 26177117, 26763917, 27233747, 27806998, 29509167, 29804161, 30128710, 30932939, 31006731, 31018667		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	40670064	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27661054		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27661054	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	15248218	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	19814645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	15248218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	15248218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal cleft	Laryngeal cleft	BEFREE	24906606		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	22183943	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26233624	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11037802, 26233624, 31549389		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	26456622, 26894931, 28817838		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11021356, 16077914, 16641871, 25711511, 25921128, 29479826, 29774122		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11021356, 16239354, 20457439, 25024626, 31562869		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	25024626	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	25024626		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	10930962, 34863035	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15222046		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15222046, 24510350	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26456622	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10364917, 17407229		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	21543025		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	37915145	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	17667959, 21861666, 23081704, 24014145, 8835703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	21861666, 24014145, 26343256, 27895323, 29327975, 31842058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	31257122		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	18644391		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14759713, 18024866, 18279059, 18521743, 19156902, 19415745, 21047200, 21830868, 21961651, 22180071, 22702493, 23736997, 23781139, 25339025, 25466287, 26799162, 28798474, 29938344		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15222046, 16268979, 23754447		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	26614509		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11488523, 15222046, 24510350		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25752914		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10471065		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	21716162		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16268979, 25605208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15222046, 8752158		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12419832, 15222046, 16641871, 18854824, 23754447, 24015291, 24519754, 28368717		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	14759713		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	11412815, 21192344, 21926427, 27895323, 28470111, 29570504, 31120287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	11412815, 16812949, 21192344, 21926427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	25113522		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21939641		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26521100	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	27681143	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27681143		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	27663770		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	27663770	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34649359	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17666363, 24519754		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17666363		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17666363	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12919185		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	18482659, 19106083, 20492467, 21511217, 21511218, 22971905, 25001880, 25207801, 26108379, 26147597, 26365936, 26556524, 27072325, 29743380, 32139220, 32759249, 33685396, 34506827, 34903548, 39436079	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19106083, 19108880, 20826260, 21700758, 22190063, 22591668, 22940005, 23922007, 24080325, 25207801, 26873108, 26916483, 29509167, 29554005, 31571629, 31695473		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	19106083		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	22955794, 31591927		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	37202608	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16641871, 21961651, 26331711, 29479826, 29774122		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	27174459		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	27661054		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrotic syndrome	Pubtator	27661054	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	27661054		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31019283		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28817838		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17450472		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	30653146		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23400848	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	23545896, 28470111		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	23781139		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy Ischemic	Optic neuropathy	Pubtator	34903548	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	15248218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	CTD_human_DG	15248218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25752914		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25752914	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	28614176, 30742590		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31559607		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	27356304		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	20808793		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	12656699, 15932363, 16911688, 17295875, 18702650, 18765869, 20804307, 21777277, 25910560, 26580676		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	10073749, 10616772, 16268979, 20457439, 23267857, 25605208, 27611887, 30403784, 30826566, 9867757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peptic Ulcer	Peptic ulcer disease	Pubtator	20457439, 25605208, 33399167	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	24877854, 35988587, 38387302	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	24877854		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	24877854		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Peripheral vascular disease	Pubtator	25851472, 34661267	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26313485		★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	23623526		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	30808393	Associate	★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	15248218		★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 1	Premature Ovarian Failure	CTD_human_DG	15248218		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10471065		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12642692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	21716162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	12713578		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	12713578	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	21038076		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29850024	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32757668	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29520080		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	23623526	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	24458713, 27417579		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22784880		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18520596, 28664816, 29921201		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	29274302		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	8890945		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22984423, 25927305, 28368717		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18644391, 19954746		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	24952855, 29260275, 29404632		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	21816733, 24019397, 24723553, 25156215		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	28553132		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16268979, 25605208		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15222046		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15222046, 25605208	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	26331711		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20492467, 24330577, 25030528, 25207801, 26019129, 26108379, 26587656, 26699760, 29901608, 30742211, 31171523, 32176040, 32568642, 32759249, 33121452, 33411687, 33611730, 33685396, 33795788, 33952670, 34903548, 35176816, 36535779, 37208337, 37279000, 37429630, 40701985	Associate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	25457586		★☆☆☆☆ Found in Text Mining only
Thiopurine S methyltranferase deficiency	Thiopurine s-methyltransferase deficiency	Pubtator	26521100	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	34217665	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	19106084, 21099121, 22118006, 22723959, 23555019, 24581091, 25744629, 26108379, 26147597, 29352151, 29382029, 32139218, 32623598, 33745326, 37045504	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	28553132, 29274302		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	27348249		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	23849748, 27348249, 27806998, 29520080, 29901608, 30974489		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25466287		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25466287	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29130833, 29842871		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	17667959, 21861666, 23081704, 24014145, 8835703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	21861666, 24014145, 26343256, 27895323, 29327975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15222046	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	38376298	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	26894931		★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	BEFREE	28391407		★☆☆☆☆ Found in Text Mining only