Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1312
Gene name	Catechol-O-methyltransferase
Gene symbol	COMT
Synonyms (NCBI Gene)	HEL-S-98n
Chromosome	22
Chromosome location	22q11.21
Summary	Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathwa

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SNP ID	Visualize variation	Clinical significance	Consequence
rs4646315	G>A,C	Drug-response	Intron variant
rs144623972	G>A,C	Drug-response	Upstream transcript variant, intron variant, genic upstream transcript variant
rs188159376	C>T	Drug-response	Intron variant, genic upstream transcript variant
rs972946462	C>T	Drug-response	Intron variant, upstream transcript variant, genic upstream transcript variant
rs1601511512	A>T	Drug-response	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, intron variant
rs1601511531	G>A	Drug-response	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, intron variant
rs1601511537	C>G	Drug-response	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, intron variant
rs1601511546	T>C	Drug-response	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512573	T>G	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512579	G>A	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512585	C>A	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512593	T>C	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512599	C>A	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512609	C>A	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512631	C>T	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601512664	A>T	Drug-response	5 prime UTR variant, genic upstream transcript variant, intron variant
rs1601512790	G>C	Drug-response	5 prime UTR variant, genic upstream transcript variant, intron variant
rs1601512807	G>A	Drug-response	5 prime UTR variant, genic upstream transcript variant, intron variant
rs1601512964	G>A	Drug-response	Genic upstream transcript variant, intron variant
rs1601525062	T>G	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601525066	A>G	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601525072	T>A	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601525073	C>A	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1601525100	C>T	Drug-response	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1601525317	C>A	Drug-response	Genic upstream transcript variant, upstream transcript variant, intron variant

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031679	hsa-miR-16-5p	Proteomics	18668040
MIRT031679	hsa-miR-16-5p	CLASH	23622248
MIRT756304	hsa-miR-30a-5p	Immunoprecipitaion (IP)	38427212
MIRT756305	hsa-miR-34a-5p	Immunoprecipitaion (IP)	38427212
MIRT903650	hsa-miR-3647-3p	CLIP-seq
MIRT903651	hsa-miR-3907	CLIP-seq
MIRT903652	hsa-miR-4282	CLIP-seq
MIRT903653	hsa-miR-4706	CLIP-seq
MIRT903654	hsa-miR-4734	CLIP-seq
MIRT903655	hsa-miR-4749-5p	CLIP-seq
MIRT903656	hsa-miR-548c-3p	CLIP-seq
MIRT903657	hsa-miR-615-5p	CLIP-seq
MIRT903658	hsa-miR-744	CLIP-seq
MIRT903659	hsa-miR-1197	CLIP-seq
MIRT903660	hsa-miR-1203	CLIP-seq
MIRT903661	hsa-miR-1825	CLIP-seq
MIRT903662	hsa-miR-186	CLIP-seq
MIRT903663	hsa-miR-199a-5p	CLIP-seq
MIRT903664	hsa-miR-199b-5p	CLIP-seq
MIRT903665	hsa-miR-214	CLIP-seq
MIRT903666	hsa-miR-218	CLIP-seq
MIRT903667	hsa-miR-298	CLIP-seq
MIRT903668	hsa-miR-3117-3p	CLIP-seq
MIRT903669	hsa-miR-3133	CLIP-seq
MIRT903670	hsa-miR-3152-3p	CLIP-seq
MIRT903671	hsa-miR-33a	CLIP-seq
MIRT903672	hsa-miR-33b	CLIP-seq
MIRT903673	hsa-miR-3619-5p	CLIP-seq
MIRT903674	hsa-miR-3940-3p	CLIP-seq
MIRT903675	hsa-miR-3974	CLIP-seq
MIRT903676	hsa-miR-4291	CLIP-seq
MIRT903677	hsa-miR-433	CLIP-seq
MIRT903678	hsa-miR-4662a-3p	CLIP-seq
MIRT903679	hsa-miR-4676-5p	CLIP-seq
MIRT903680	hsa-miR-4684-3p	CLIP-seq
MIRT903681	hsa-miR-4722-5p	CLIP-seq
MIRT903682	hsa-miR-493	CLIP-seq
MIRT903683	hsa-miR-575	CLIP-seq
MIRT903684	hsa-miR-627	CLIP-seq
MIRT903685	hsa-miR-636	CLIP-seq
MIRT903686	hsa-miR-651	CLIP-seq
MIRT903687	hsa-miR-761	CLIP-seq
MIRT903688	hsa-miR-922	CLIP-seq
MIRT903689	hsa-miR-924	CLIP-seq
MIRT903659	hsa-miR-1197	CLIP-seq
MIRT903690	hsa-miR-1253	CLIP-seq
MIRT903691	hsa-miR-1265	CLIP-seq
MIRT903692	hsa-miR-1292	CLIP-seq
MIRT903693	hsa-miR-1343	CLIP-seq
MIRT903694	hsa-miR-1587	CLIP-seq
MIRT903661	hsa-miR-1825	CLIP-seq
MIRT903662	hsa-miR-186	CLIP-seq
MIRT903695	hsa-miR-1909	CLIP-seq
MIRT903663	hsa-miR-199a-5p	CLIP-seq
MIRT903664	hsa-miR-199b-5p	CLIP-seq
MIRT903665	hsa-miR-214	CLIP-seq
MIRT903666	hsa-miR-218	CLIP-seq
MIRT903696	hsa-miR-2467-3p	CLIP-seq
MIRT903697	hsa-miR-2467-5p	CLIP-seq
MIRT903698	hsa-miR-2861	CLIP-seq
MIRT903699	hsa-miR-296-5p	CLIP-seq
MIRT903700	hsa-miR-3064-5p	CLIP-seq
MIRT903668	hsa-miR-3117-3p	CLIP-seq
MIRT903701	hsa-miR-3120-5p	CLIP-seq
MIRT903669	hsa-miR-3133	CLIP-seq
MIRT903670	hsa-miR-3152-3p	CLIP-seq
MIRT903702	hsa-miR-3158-5p	CLIP-seq
MIRT903671	hsa-miR-33a	CLIP-seq
MIRT903672	hsa-miR-33b	CLIP-seq
MIRT903703	hsa-miR-34a	CLIP-seq
MIRT903704	hsa-miR-34c-5p	CLIP-seq
MIRT903705	hsa-miR-3614-5p	CLIP-seq
MIRT903673	hsa-miR-3619-5p	CLIP-seq
MIRT903706	hsa-miR-3652	CLIP-seq
MIRT903707	hsa-miR-3663-5p	CLIP-seq
MIRT903708	hsa-miR-3678-3p	CLIP-seq
MIRT903709	hsa-miR-3691-3p	CLIP-seq
MIRT903674	hsa-miR-3940-3p	CLIP-seq
MIRT903710	hsa-miR-410	CLIP-seq
MIRT903711	hsa-miR-4281	CLIP-seq
MIRT903712	hsa-miR-4284	CLIP-seq
MIRT903677	hsa-miR-433	CLIP-seq
MIRT903713	hsa-miR-4417	CLIP-seq
MIRT903714	hsa-miR-4430	CLIP-seq
MIRT903715	hsa-miR-4436b-3p	CLIP-seq
MIRT903716	hsa-miR-4436b-5p	CLIP-seq
MIRT903717	hsa-miR-4437	CLIP-seq
MIRT903718	hsa-miR-4471	CLIP-seq
MIRT903719	hsa-miR-4481	CLIP-seq
MIRT903720	hsa-miR-4488	CLIP-seq
MIRT903721	hsa-miR-4492	CLIP-seq
MIRT903722	hsa-miR-4498	CLIP-seq
MIRT903723	hsa-miR-449a	CLIP-seq
MIRT903724	hsa-miR-449b	CLIP-seq
MIRT903725	hsa-miR-4505	CLIP-seq
MIRT903726	hsa-miR-4527	CLIP-seq
MIRT903727	hsa-miR-4646-5p	CLIP-seq
MIRT903728	hsa-miR-4656	CLIP-seq
MIRT903678	hsa-miR-4662a-3p	CLIP-seq
MIRT903729	hsa-miR-4674	CLIP-seq
MIRT903730	hsa-miR-4675	CLIP-seq
MIRT903679	hsa-miR-4676-5p	CLIP-seq
MIRT903680	hsa-miR-4684-3p	CLIP-seq
MIRT903731	hsa-miR-4697-5p	CLIP-seq
MIRT903732	hsa-miR-4731-5p	CLIP-seq
MIRT903733	hsa-miR-4741	CLIP-seq
MIRT903734	hsa-miR-4745-5p	CLIP-seq
MIRT903735	hsa-miR-4796-5p	CLIP-seq
MIRT903683	hsa-miR-575	CLIP-seq
MIRT903736	hsa-miR-580	CLIP-seq
MIRT903684	hsa-miR-627	CLIP-seq
MIRT903737	hsa-miR-635	CLIP-seq
MIRT903685	hsa-miR-636	CLIP-seq
MIRT903738	hsa-miR-637	CLIP-seq
MIRT903686	hsa-miR-651	CLIP-seq
MIRT903739	hsa-miR-661	CLIP-seq
MIRT903740	hsa-miR-760	CLIP-seq
MIRT903687	hsa-miR-761	CLIP-seq
MIRT903741	hsa-miR-762	CLIP-seq
MIRT903689	hsa-miR-924	CLIP-seq
MIRT1920366	hsa-miR-486-3p	CLIP-seq
MIRT1920366	hsa-miR-486-3p	CLIP-seq
MIRT1920366	hsa-miR-486-3p	CLIP-seq
MIRT903659	hsa-miR-1197	CLIP-seq
MIRT903665	hsa-miR-214	CLIP-seq
MIRT903668	hsa-miR-3117-3p	CLIP-seq
MIRT1967928	hsa-miR-3128	CLIP-seq
MIRT903671	hsa-miR-33a	CLIP-seq
MIRT903672	hsa-miR-33b	CLIP-seq
MIRT903673	hsa-miR-3619-5p	CLIP-seq
MIRT903676	hsa-miR-4291	CLIP-seq
MIRT1967929	hsa-miR-4720-5p	CLIP-seq
MIRT903681	hsa-miR-4722-5p	CLIP-seq
MIRT1967930	hsa-miR-4799-3p	CLIP-seq
MIRT903686	hsa-miR-651	CLIP-seq
MIRT903687	hsa-miR-761	CLIP-seq
MIRT903688	hsa-miR-922	CLIP-seq
MIRT903659	hsa-miR-1197	CLIP-seq
MIRT903660	hsa-miR-1203	CLIP-seq
MIRT903661	hsa-miR-1825	CLIP-seq
MIRT903663	hsa-miR-199a-5p	CLIP-seq
MIRT903664	hsa-miR-199b-5p	CLIP-seq
MIRT903665	hsa-miR-214	CLIP-seq
MIRT903666	hsa-miR-218	CLIP-seq
MIRT903667	hsa-miR-298	CLIP-seq
MIRT903668	hsa-miR-3117-3p	CLIP-seq
MIRT903669	hsa-miR-3133	CLIP-seq
MIRT903671	hsa-miR-33a	CLIP-seq
MIRT903672	hsa-miR-33b	CLIP-seq
MIRT903673	hsa-miR-3619-5p	CLIP-seq
MIRT903674	hsa-miR-3940-3p	CLIP-seq
MIRT903675	hsa-miR-3974	CLIP-seq
MIRT903676	hsa-miR-4291	CLIP-seq
MIRT2203856	hsa-miR-4640-5p	CLIP-seq
MIRT903680	hsa-miR-4684-3p	CLIP-seq
MIRT903681	hsa-miR-4722-5p	CLIP-seq
MIRT2203857	hsa-miR-4726-5p	CLIP-seq
MIRT903682	hsa-miR-493	CLIP-seq
MIRT903685	hsa-miR-636	CLIP-seq
MIRT903686	hsa-miR-651	CLIP-seq
MIRT903687	hsa-miR-761	CLIP-seq
MIRT903688	hsa-miR-922	CLIP-seq
MIRT2436424	hsa-miR-1262	CLIP-seq
MIRT903725	hsa-miR-4505	CLIP-seq
MIRT2436425	hsa-miR-4701-3p	CLIP-seq
MIRT2436424	hsa-miR-1262	CLIP-seq
MIRT903665	hsa-miR-214	CLIP-seq
MIRT903667	hsa-miR-298	CLIP-seq
MIRT903673	hsa-miR-3619-5p	CLIP-seq
MIRT903675	hsa-miR-3974	CLIP-seq
MIRT903676	hsa-miR-4291	CLIP-seq
MIRT903725	hsa-miR-4505	CLIP-seq
MIRT2436425	hsa-miR-4701-3p	CLIP-seq
MIRT903681	hsa-miR-4722-5p	CLIP-seq
MIRT2507052	hsa-miR-4740-3p	CLIP-seq
MIRT903682	hsa-miR-493	CLIP-seq
MIRT903687	hsa-miR-761	CLIP-seq
MIRT903688	hsa-miR-922	CLIP-seq
MIRT2436424	hsa-miR-1262	CLIP-seq
MIRT903665	hsa-miR-214	CLIP-seq
MIRT903667	hsa-miR-298	CLIP-seq
MIRT903673	hsa-miR-3619-5p	CLIP-seq
MIRT903675	hsa-miR-3974	CLIP-seq
MIRT903676	hsa-miR-4291	CLIP-seq
MIRT903725	hsa-miR-4505	CLIP-seq
MIRT2436425	hsa-miR-4701-3p	CLIP-seq
MIRT903681	hsa-miR-4722-5p	CLIP-seq
MIRT2507052	hsa-miR-4740-3p	CLIP-seq
MIRT903682	hsa-miR-493	CLIP-seq
MIRT903687	hsa-miR-761	CLIP-seq
MIRT903688	hsa-miR-922	CLIP-seq

Show/Hide all (87)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0001964	Process	Startle response	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0002001	Process	Renin secretion into blood stream	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	11559542
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006693	Process	Prostaglandin metabolic process	IEA
GO:0006950	Process	Response to stress	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008168	Function	Methyltransferase activity	TAS
GO:0008171	Function	O-methyltransferase activity	IEA
GO:0008171	Function	O-methyltransferase activity	TAS	1707278
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009266	Process	Response to temperature stimulus	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014046	Process	Dopamine secretion	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016036	Process	Cellular response to phosphate starvation	IEA
GO:0016206	Function	Catechol O-methyltransferase activity	IBA
GO:0016206	Function	Catechol O-methyltransferase activity	IDA	11559542, 15645182, 21846718
GO:0016206	Function	Catechol O-methyltransferase activity	IEA
GO:0016206	Function	Catechol O-methyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0021696	Process	Cerebellar cortex morphogenesis	IEA
GO:0030424	Component	Axon	IBA
GO:0030425	Component	Dendrite	IBA
GO:0031982	Component	Vesicle	IEA
GO:0032094	Process	Response to food	IEA
GO:0032259	Process	Methylation	IDA	11559542
GO:0032259	Process	Methylation	IEA
GO:0032259	Process	Methylation	TAS
GO:0032502	Process	Developmental process	IBA
GO:0032835	Process	Glomerulus development	IEA
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033555	Process	Multicellular organismal response to stress	IEA
GO:0034097	Process	Response to cytokine	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0035812	Process	Renal sodium excretion	IEA
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	IBA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042420	Process	Dopamine catabolic process	IEA
GO:0042420	Process	Dopamine catabolic process	TAS
GO:0042424	Process	Catecholamine catabolic process	IBA
GO:0042424	Process	Catecholamine catabolic process	IDA	11559542, 15645182, 21846718
GO:0042596	Process	Fear response	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046959	Process	Habituation	IEA
GO:0048243	Process	Norepinephrine secretion	IEA
GO:0050890	Process	Cognition	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0051412	Process	Response to corticosterone	IEA
GO:0060840	Process	Artery development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071314	Process	Cellular response to cocaine	IEA
GO:0071626	Process	Mastication	IEA
GO:0097018	Process	Renal albumin absorption	IEA
GO:0097205	Process	Renal filtration	IEA
GO:1902074	Process	Response to salt	IEA
GO:1903350	Process	Response to dopamine	IEA
GO:1990776	Process	Response to angiotensin	IEA

MIM	HGNC	e!Ensembl
116790	2228	ENSG00000093010

P21964

Protein name

Catechol O-methyltransferase (EC 2.1.1.6)

Protein function

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. {ECO:000

PDB

3A7E , 3BWM , 3BWY , 4PYI , 4PYJ , 4PYK , 4XUC , 4XUD , 4XUE , 5LSA , 6I3C , 6I3D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01596	Methyltransf_3	67 → 228	O-methyltransferase	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain, liver, placenta, lymphocytes and erythrocytes.

Sequence

MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQPIHNLLMGDTKEQRIL
NHVLQHAEPGNAQSVLEAIDTYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCG
YSAVRMARLLSPGARLITIEINPDCAAITQRMVDFAGVKDKVTLVVGASQDIIPQLKKKY
DVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVICPGAPDFLAHVRGSSCFE
CTHYQSFLEYREVVDGLEKAIYKGPGSEAGP

Sequence length

271

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Tyrosine metabolism Metabolic pathways Dopaminergic synapse		Methylation Enzymatic degradation of dopamine by COMT Enzymatic degradation of Dopamine by monoamine oxidase

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Pathogenic	rs2517476743	RCV003224777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (59)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
22q11.2 deletion syndrome	Uncertain significance	ClinVar Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
ANHEDONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★★★★ ★★☆☆☆ 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
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULIMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS ABUSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS USE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMT POLYMORPHISM	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMT-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIAS, PAROXYSMAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSPHORIC MOOD	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUCOCORTICOID DEFICIENCY 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMITTENT EXPLOSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
methamphetamine use disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANIC DISORDER 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL DYSKINESIA	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHEOCHROMOCYTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Benign	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA SPECTRUM AND OTHER PSYCHOTIC DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, susceptibility to	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tramadol response	Benign; Uncertain significance; drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (504)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	11705709, 15935994, 16513880, 17924258, 21447540, 21465565		★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	17028864	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	17217925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11 partial monosomy syndrome	22q11 partial monosomy syndrome	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11.2 deletion syndrome	22q11.2 deletion syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ablepharon	Ablepharon	BEFREE	30084963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Abnormal involuntary movement	Abnormal Involuntary Movement	BEFREE	15261699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22658813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	22569243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Affective Disorders, Psychotic	Affective Psychosis	BEFREE	17706335, 18092319, 18407467, 20493536, 20591499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Affective Disorders, Psychotic	Affective Psychosis	PSYGENET_DG	17706335, 18092319, 18407467, 20493536, 20591499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	28195063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18842138, 19793392, 28707072, 29281938, 29480189, 31771069, 32925069, 35599479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	24035893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	23834492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	25102390, 32162598, 35285297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	25102390, 27636225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	24990354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	19025226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhedonia	Anhedonia	PSYGENET_DG	19025226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhedonia	Anhedonia	Pubtator	19025226, 26096878, 34287249, 39358340	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	30712251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	19852950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	34856753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	11317231, 14681918, 16118784, 17028449, 18574484, 22366815, 23046831, 26808641, 29057600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	LHGDN	16118784, 17028449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	23046831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	19997043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	12605066, 12605099, 15584875, 15900225, 15956988, 16595858, 17079080, 17146014, 17403981, 17504250, 17805313, 17850881, 17941097, 18384078, 18436194 View all (29 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	15673663, 17504250, 18436194, 18578865, 19398820, 19582565, 20488547, 21110842, 21437260, 23025981, 23112822, 23475824, 24118915, 25598522, 25722948 View all (11 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	12605066, 12605099, 15584875, 15900225, 15956988, 16595858, 17079080, 17146014, 17403981, 17504250, 17805313, 17850881, 17941097, 18384078, 18436194 View all (37 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	18436194, 20488547, 24118915, 38228118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	34287249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18545092, 22790479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	29912452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36395102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18545092, 22790479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	22790479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	31586564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	31586564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	18755526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	10490706		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	16734939, 17109713, 17886261, 17949513, 18094258, 18580877, 19582565, 19858760, 19997043, 20736997, 20868372, 24163823, 25201318, 25319752, 26560848 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10490706, 10581494, 10898900, 11121197, 12627475, 15613245, 15635644, 16275815, 16676224, 16734939, 16751296, 16865041, 17109713, 17464676, 17886261 View all (40 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	10490706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	27327562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19582565, 23613504, 24015051, 25325218	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23613504, 23643763, 24015051, 25325218, 31586564		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	11378854, 21610500, 26919535		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16917939		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	19429001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	12707935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	CTD_human_DG	16780746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	16492910, 31288722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10395222, 11772685, 15211633, 15936529, 16542182, 16542735, 16756688, 16984965, 18201871, 18571901, 18574484, 18922583, 19025226, 19193231, 19578924 View all (30 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	11772685		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	15211633, 16984965, 18571901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16756688, 16984965, 18201871, 18571901, 22370993, 23421957, 23646156, 23861766, 25744938, 27039372, 27063557, 27458023, 27622935, 29565503, 35328036	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22777684, 23421957, 23861766, 25744938, 25766270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	19193231, 22222175, 22713126, 23861766, 27447284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	BEFREE	20698735, 23026378, 25744938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	14729580, 19443378, 21397529, 27055785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15596044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	25216558, 34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	16436192, 17547583, 18756498, 19906087, 25744938, 31587837, 9264133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	20205808, 22139575, 22247753, 34051678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18769474, 32997444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	26394291, 26576546, 27154305, 27769642, 28060209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23956130, 27091610, 31123752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	19863350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10503880, 10755383, 10766427, 11142424, 11401913, 11556837, 11559542, 11577006, 11606384, 11706521, 11773866, 11955795, 12020974, 12415427, 12727796 View all (64 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	15455371, 16077979, 9407957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11556837, 14612555, 15031283, 15237001, 15241822, 16672066, 17295924, 17562079, 17582757, 17689241, 17964424, 17980711, 18632656, 19308726, 20037207 View all (14 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30461653	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	16436192, 17547583, 25744938, 9264133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	Pubtator	19447357, 25216558	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bulimia	Bulimia	BEFREE	22683321, 26621270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bulimia Nervosa	Bulimia	BEFREE	17028449, 21300128, 22683321, 25216558, 29057600, 29879886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	25216558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	27055785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	17156920, 19094200, 35710811, 36426809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18474869, 20591221, 27644662, 37564635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30136421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	14729580, 19443378, 21397529, 27055785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22331461, 22438067, 22658813, 25280560, 27644662, 30109864, 30157136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11142424, 11303589, 12036914, 15010821, 25124595, 25292091, 26681027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12083324, 21355050, 25035343, 27282867, 28456872, 30045690, 31838976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	18842138, 25728832, 27282867, 30045690, 31838976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31838976	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	24077209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	24077209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	15288375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	17980711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23112845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	29247072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27689550		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26782546, 26798414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26782546, 26798414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	39187813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18366720, 19578796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	18366720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	23773341, 31021849, 31041874, 31490699, 33926923, 36100778, 36672750, 37187218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	12372660, 15118357, 17383818, 20483479, 30790675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	20123031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	29338612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	31142902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16476412, 17579498, 20307169, 20456288, 21425136, 22483299, 23124177, 24862404, 26576546, 28869277		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	CTD_human_DG	17123785		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	19369177, 19793392, 21425136, 22573634, 23992923, 25080285, 26576546, 27039372, 27061069, 28869277, 29439855, 29480189, 30424994, 30935427, 32397876 View all (4 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	19793392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17606708, 23880798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17606708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23880798, 25532943, 30379684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23880798, 32059146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	25598522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	17075359, 19465875, 19997043, 22270685, 26537239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	19997043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18197083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	CTD_human_DG	8886163		★★★★★ ★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL ANOMALY FACE SYNDROME	Conotruncal Anomaly Face Syndrome	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17264883, 25035343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25035343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	17264883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18545092, 25035343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	32397876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	26576546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29055075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	21613790, 30424994, 31046593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	30424994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	16921496, 18596619, 19369177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15852364, 18387741, 19812213, 22890094, 23069674, 24757111, 28869277, 29231139, 30706571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	27061069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression in children	Mental Depression	BEFREE	29627597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	11772685		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Bipolar	Bipolar Disorder	BEFREE	12815746		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Bipolar	Bipolar Disorder	PSYGENET_DG	12815746, 16483362		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	16756688, 16921496, 17403981, 17522626, 17700596, 17941097, 18384078, 18533273, 18535998, 18578865, 18828035, 19235787, 19296553, 19309019, 20577990 View all (37 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	16756688, 18578865, 18828035, 21110842, 21437260, 22612913, 22832732, 23025981, 23475824, 24077209, 24373571, 27154305, 28205449, 28252569, 28590587 View all (6 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	24661160, 24679392, 25011686, 25037115, 25106036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	16756688, 18436194, 32459054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Syndrome	Mental Depression	BEFREE	6846043		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	PSYGENET_DG	6846043		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	17205121, 27282867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17016617, 17205121, 27282867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19690620, 27282867, 32925069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19690620, 25927430, 27282867, 30132342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	25037115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	10450274, 10490696, 12192614, 12402217, 12707935, 12802784, 15505638, 15645182, 16511839, 16734939, 17244108, 17493297, 8886163, 9702744		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	Digeorge syndrome	Pubtator	15846854, 16511839, 16734939, 17427209, 17949513, 18769474, 19246329, 20123031, 20488547, 20817203, 21998713, 22763378, 23992923, 24448439, 25325218 View all (5 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	LHGDN	16511839, 16734939		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	Digeorge syndrome	Pubtator	23992923	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	CTD_human_DG	8886163		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DiGeorge Syndrome	DiGeorge Syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disruptive Behavior Disorder	Disruptive Behavior Disorder	BEFREE	22270685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	20736997, 23155402, 24749760, 35328036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	22113132, 23232665		★★★★★ ★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	20863768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	3160238, 6216990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	19429001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	11865133, 14673217, 18698234, 22083803, 24008922, 25034874, 28315782, 30986504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	LHGDN	16424823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	30379906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphoric mood	Mood Disorder	BEFREE	15584875, 17079080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysphoric mood	Mood Disorder	PSYGENET_DG	15584875, 17079080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyssomnias	Dyssomnia	BEFREE	28205449, 31553501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysthymic Disorder	Dysthymic Disorder	BEFREE	20828831		★★★★★ ★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	18922583, 23963056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	16969275, 17028449, 19852950, 22683321, 26621270, 29057600, 29879886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	21047975, 22886584, 28625321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	BEFREE	6846043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12810635, 14656940, 18318428, 18324659, 18566989, 20887769, 23370603, 24390993, 25741405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	25741405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	25741405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	14656940, 18324659, 18566989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25741405, 28074437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	12168735, 14683420, 16260521, 16527884, 17850881, 21495799, 21958689, 28074437, 30539833, 30608422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	12168735, 28074437, 30608422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	BEFREE	3160238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22881836, 30909076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	34102472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	26650803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	12036914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	19647494, 26272340, 27457818, 36284330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	28968343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	16443508, 18752908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	18752908, 23238870, 24942317, 27491313, 29307622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32397876, 32444540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	10523824, 11166081, 6582811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35802478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	26147675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	15852364, 16921496, 17244108, 18808401, 19159868, 19369177, 23069674, 30894870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	16688411, 23773341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	28560854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	23588304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28399184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	19406978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	17606708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17606708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	31021849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	26887379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	26081309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	31041874	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	BEFREE	17016617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	40532247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	25987702, 27327562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	28235603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28746172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	14654758		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	18442637, 19210038, 21776034, 28461606		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	28560854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	36292653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19653907	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	25722948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Junctional epidermolysis bullosa	Pubtator	25722948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16234808, 16476412, 16542182, 17579498, 19812213, 20307169, 20456288, 21425136, 22483299, 22713126, 22890010, 22890094, 23124177, 23353103, 23861766 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17442488, 19895544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	20863768, 20970736, 24904231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	24904231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	22612913, 30158547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	21437260, 23110189, 25037115, 25722948, 28252569, 30309244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	21437260, 23110189, 25037115, 25722948, 28252569, 31833409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23549522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	28560854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	19406978, 24167357, 29426301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kleine-Levin Syndrome	Kleine-Levin Syndrome	BEFREE	12473762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	29307622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	19809499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	29912452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	23069674		★★★★★ ★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	29307622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15341023, 1847521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	15341023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1847521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	30109864, 39187813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19174490, 30109864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25648260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16214922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	16214922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	16214922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	17606708		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	8988970, 9264133, 9352569, 9702744		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	8988970, 9264133, 9352569, 9702744		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	8988970, 9264133, 9352569, 9702744		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	8988970, 9264133, 9352569, 9702744		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	8988970, 9264133, 9352569, 9702744		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	8988970, 9264133, 9352569, 9702744		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	8988970, 9264133, 9352569, 9702744		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	14618678, 15520843, 15583702, 17417063, 17522626, 18533273, 19095219, 19309019, 19593178, 20071037, 20531207, 20558238, 20584552, 20627703, 21600957 View all (29 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	LHGDN	15583702		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	23351565, 23706899, 24555772, 24751310, 25766270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	10503880, 10755383, 10766427, 11142424, 11401913, 11556837, 11559542, 11577006, 11606384, 11706521, 11773866, 11955795, 12020974, 12415427, 12727796 View all (64 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	15455371, 16077979, 9407957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	12810635, 14656940, 18318428, 18324659, 18566989, 20887769, 23370603, 24390993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	17220335, 27055785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	12971967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22331461, 22438067, 22658813, 25280560, 27644662, 30109864, 30157136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11142424, 11303589, 15010821, 25124595, 25292091, 26681027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25711924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16126332, 16492910, 16569655, 17018638, 17760745, 23096092, 23116175, 23257985, 24682418, 31288722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19015200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	14729580, 19443378, 21397529, 27055785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11401913, 12571159, 16253764, 16492910, 17220335, 17577421, 18257092, 19094200, 22293824, 23820299, 23956130, 24307619, 25551397, 26798414, 27055785 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26782546, 26798414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17606708, 23880798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	15455371, 16077979, 9407957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14504192, 15388245, 16077979, 17018638, 17077994, 17507616, 17562079, 18632656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	15455371, 16077979, 9407957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	15455371, 16077979, 9407957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	11772685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	21397335, 22713126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	11772685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	23337869, 25515329, 32985495, 36100778	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory Disorders	CTD_human_DG	28195063		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory dysfunction	Memory Disorders	BEFREE	17636131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	16756688, 16921496, 17403981, 17522626, 17700596, 17941097, 18384078, 18533273, 18535998, 18578865, 18828035, 19235787, 19296553, 19309019, 20577990 View all (37 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	24661160, 24679392, 25011686, 25037115, 25106036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	10395222, 10490706, 10686561, 11204347, 11525417, 12366871, 12900951, 15124004, 16282778, 16483362, 16542182, 16734939, 17419009, 17577421, 17805313 View all (29 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	CTD_human_DG	16780746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Disorders, Severe	Mental Disorders	CTD_human_DG	16780746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17442488, 19895544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	27619075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22370993, 22391769	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22391769, 23341251, 24448899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	11597779, 16688411, 21095465, 22722321, 23773341, 25598522, 25929431, 26632697, 26988620, 27154995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	16688411, 23773341, 25598522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	19793392, 22890094, 26489081, 28869277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	10490706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	25242632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	10686561, 19700233, 20828831, 23025981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	11992559, 11992560, 15583702, 15626819, 16756688, 16969269, 17522626, 18828035, 20531207, 21600957, 22745815, 23351565, 23928267, 25766270, 29330410 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	12782971		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	21073668, 22745815, 22832732	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	21438144, 22745815, 23351565, 23928267, 25766270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16564429, 24290452, 25242632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24290452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	15537444, 17451372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	16126332		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	31490699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15033250, 17577421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17577421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	17264883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	17577421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	11443519, 11990384, 12517283, 15309313, 25466290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10503880, 16730930, 17507616, 19551860, 21920623, 25532943, 27826992, 28710019, 30042310, 30904591, 31288722, 31617665, 31690419		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10459407, 11955795, 12020974, 23613193, 28456872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	21204206, 24382678, 24990354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28429453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22573634, 26037113, 34681035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12083324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurotic Disorders	Neurotic Disorders	BEFREE	22401966		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	10629435, 12815746, 15956988, 18384078, 19175757, 20090380, 22542868, 23398761, 23928267, 24300663, 27743374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18258609, 22658813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	12402217, 12657658, 14618678, 15169701, 15488308, 15866551, 16027741, 16234808, 16476412, 16505837, 16542735, 16837108, 16921496, 16936704, 16969277 View all (38 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17497175, 18442637, 19690620, 28629779, 30670847, 30761671		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	19690620, 27228958, 30991630	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Abdominal	Obesity	Pubtator	26329592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	10331110, 10523824, 11121168, 11426511, 11525422, 11840516, 12815746, 12900951, 14582147, 16043283, 16187774, 16734939, 17264842, 17949513, 18197083 View all (13 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	LHGDN	16427255, 18446263		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Occipital myelomeningocele	Myelomeningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	18820009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	21550019, 22270685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	34151861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	16734939, 19676096, 22414277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15129369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22178088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	24808926, 28887105		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11142424, 11303589, 15010821, 25124595, 25292091, 26681027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23757313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	35346044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25711924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	21934178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	11772685, 11950461, 12359690, 15009906, 15203287, 17357147, 18440204, 18574484, 18663369, 18832011, 19429001, 19900710, 20048750, 20457471, 22036916 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic Disorder	LHGDN	15009906, 16525418, 17357147, 17728665, 18440204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic disorder	Pubtator	15009906, 18436194, 27134498, 32723321, 38228118	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Disorder	Panic Disorder	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paranoia	Paranoia	BEFREE	18721261, 21656904, 26464454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoid Disorders	Paranoia	Pubtator	18721261, 19944543, 21656904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	19159868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	24373571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10490706, 10895397, 11163295, 11865133, 11955795, 12020974, 12465073, 12815660, 14673217, 15283009, 15355491, 15747357, 15852364, 15965967, 16344532 View all (69 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	11873938, 17475791, 18698234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	17475791, 18755526, 21781348, 23093014, 23408064, 23466833, 24749760, 24825955, 25080285, 27061069, 28399184, 28740224, 28869277, 29247072, 29439855 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	11171904, 15965967, 19909787, 22527346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28418735, 6734032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	26650803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36395102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	18075475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23643763, 25325218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	22569243		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	CTD_human_DG	22569243		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	CTD_human_DG	22569243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	15337664, 15450911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	17612537, 22178088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22178088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	28759974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	LHGDN	18760272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28759974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	19944409, 21080103, 21783175, 24074515, 25329975, 25451452, 26986136, 27769642, 28234210, 28257413, 28833952, 29248614, 29627597, 31291232, 31583809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	24808926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15852364, 18387741, 19812213, 22890094, 24757111, 28869277, 30706571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	21099450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14508827, 16126332, 16492910, 16569655, 17018638, 17704407, 17760745, 23096092, 23116175, 23257985, 24682418, 31288722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19022961, 20628004, 27074016	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	30840133		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	12402217, 12657658, 12707935, 14618678, 15169701, 15488308, 15866551, 16027741, 16234808, 16476412, 16505837, 16542735, 16837108, 16921496, 16936704 View all (42 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	16734939, 21073668, 23799032, 23992923, 25722988, 30935427, 39358340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	LHGDN	18092319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	17606708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	27055785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17220335, 22159223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	34895312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26272340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	18226951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	16828262, 17504246, 25139113, 26745992, 9619160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10450274, 10490696, 10530637, 10581481, 10697824, 11150892, 11204347, 11368843, 11381111, 11525417, 11581117, 11955795, 12020974, 12126868, 12192614 View all (279 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	LHGDN	12082558, 12090821, 12402217, 12799619, 12815735, 12815739, 14754787, 15124004, 15211633, 15261699, 16037677, 16361958, 16424823, 16691129, 16899231 View all (17 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	15613245, 15931594, 16483362, 16734939, 16984965, 17217925, 18159252, 18201871, 18381357, 18571901, 19025226, 19369177, 20026221, 22216231, 22370993 View all (17 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	CTD_human_DG	16234811, 17123785, 18583979, 20561508		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia and related disorders	Schizophrenia	BEFREE	15952869, 17924258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia Spectrum and Other Psychotic Disorders	Schizophrenia	CTD_human_DG	28195063		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophreniform Disorders	Schizophreniform Disorders	BEFREE	15866551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	18663369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	17640440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	10450274, 10490696, 10530637, 12192614, 12402217, 12707935, 12802784, 15505638, 15645182, 16109444, 16511839, 16734939, 17244108, 17493297, 20123031 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	CTD_human_DG	8886163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	10450274, 12192614, 12402217, 12802784, 15505638, 16734939, 17244108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	31142902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31112503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	22216231, 29248857, 33920292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28205449, 31553501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	21204206, 24382678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	15388245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22658813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20979431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35830713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30732962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19015200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19015200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	29912452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	17959908, 20216107, 20336436, 20974455, 22074755, 22337325, 23446089, 25218601, 26198390, 27792797, 29550002, 29935309, 30811655, 31285095, 31490699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	CTD_human_DG	25218601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	11840485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	15237001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	31838976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	17909067		★★★★★ ★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	BEFREE	31490699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Treatment related secondary malignancy	Treatment Related Secondary Malignancy	BEFREE	21425136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25722988, 27622935, 34287249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31617665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	14618678, 15520843, 15583702, 17417063, 17522626, 19095219, 19309019, 19593178, 20071037, 20531207, 20584552, 20627703, 21600957, 21788083, 21940152 View all (16 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	23351565, 23706899, 24555772, 24751310, 25766270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15596044, 21397529, 30642841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Overactive	Overactive bladder	Pubtator	23613504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26798414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	16595228, 17636223, 18752908, 23238870, 23939469, 24777039, 24942317, 27491313, 29307622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	25728832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	BEFREE	30007867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	19112571, 24915010		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	19112571, 24915010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	LHGDN	12782971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	30042310		★★★★★ ★☆☆☆☆ Found in Text Mining only

COMT (catechol-O-methyltransferase)