COMT (catechol-O-methyltransferase)

Gene

• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 116790
• HGNC: 2228
• e!Ensembl: ENSG00000093010

Protein

• UniProt ID: 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

Pathways

KEGG:

Steroid hormone biosynthesis
Tyrosine metabolism
Metabolic pathways
Dopaminergic synapse

Reactome:

Methylation
Enzymatic degradation of dopamine by COMT
Enzymatic degradation of Dopamine by monoamine oxidase

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Bardet-Biedl syndrome	Pathogenic	rs2517476743	RCV003224777

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
22q11.2 deletion syndrome	Uncertain significance	rs6267	RCV005357146
COMT POLYMORPHISM	Benign	rs4680	RCV000019156
COMT-related disorder	Likely benign; Benign	rs745542046, rs1277428084, rs1601526844, rs762482920, rs8192488, rs3218737	RCV003943884 RCV003949252 RCV003946774 RCV003962249 RCV003972942 RCV003922866
methamphetamine use disorder	Benign	rs4818	RCV003313783
Schizophrenia	Benign	rs4680	RCV003633481
Schizophrenia, susceptibility to	Uncertain significance	rs6267	RCV000019157
Tramadol response	Benign; Uncertain significance; drug response	rs4633, rs4818, rs4680, rs6267, rs1601500636, rs1303813995, rs1468243199, rs1601501100, rs1601501107, rs774265748, rs1601501281, rs1213698422, rs764956654, rs1601501698, rs1601511512, rs1601511531, rs1601511537, rs1601511546, rs1601512573, rs1601512579, rs1601512585, rs1601512593, rs1601512599, rs1601512609, rs1601512631, rs144623972, rs1601512664, rs1601512790, rs1601512807, rs188159376, rs1601512964, rs1601525062, rs1601525066, rs1601525072, rs1601525073, rs1601525100, rs972946462, rs1601525317, rs1601526328, rs887838460, rs1393666377, rs1601526354, rs11569716, rs1601526452, rs1601526514, rs1601526839, rs1160435070, rs561536243, rs1601526877, rs1601527054, rs1601527185, rs740602, rs1601527383, rs1601527404, rs373611092, rs76452330, rs544846648, rs1601527641, rs1601527677, rs1601527752, rs1601527756, rs2239393, rs1374067391, rs1601528913, rs754397556, rs778498490, rs1428959883, rs1601529164, rs1601529201, rs1223964672, rs1601529307, rs1601529532, rs1601529589, rs1337529868, rs1601530120, rs147863086, rs1601530284, rs1601530294, rs754436726, rs1601530351, rs201225516, rs769224, rs4646315, rs1601546266, rs1601546307, rs1601546321, rs977343429, rs117222687, rs1601546761, rs1601547251, rs1601547262, rs1601547577, rs1243347237, rs1601547954, rs1601548049, rs1601548161, rs1266810183, rs138327309, rs368314788, rs769605719, rs1406904538, rs1601549242, rs893303657, rs1601549431, rs1601549710, rs1601549960, rs1601550139, rs947572832, rs1601550265, rs1299165007, rs934034534, rs1601550431, rs1601550520, rs1601550617, rs1601550644, rs165599, rs1601550968, rs1306169298, rs1601551125, rs36082074, rs1601551241, rs35478083, rs1601551279, rs1601551305, rs1601551335, rs1601551352, rs1601551364, rs898275789, rs1601551560, rs35481270, rs1407237513, rs165728, rs1601551875, rs1601552131, rs541561684, rs1601552215, rs1601552284, rs1383104098, rs1601552366, rs1601552408, rs1281747131, rs1601552499, rs1601552508, rs1601552524, rs1601552572, rs1601552612, rs1601552651, rs1191232468, rs1426955262, rs1601552910, rs1194870751, rs1601553046, rs1601553128, rs1601553151, rs987022208, rs1601553369, rs1601553380, rs1380337718, rs982843466, rs548235125, rs910999769, rs1043850772, rs554056486, rs1040891994, rs1601553978, rs1042965728, rs570852533, rs1601554157, rs1601554241, rs1388042103	RCV001028888 RCV001029692 RCV001028880 RCV001028887 RCV001029729 RCV001029728 RCV001029727 RCV001029726 RCV001029725 RCV001029724 RCV001028913 RCV001028912 RCV001028911 RCV001028910 RCV001028909 RCV001028908 RCV001028907 RCV001028906 RCV001028905 RCV001028904 RCV001028903 RCV001028902 RCV001028901 RCV001028900 RCV001028899 RCV001028898 RCV001029723 RCV001029722 RCV001029721 RCV001029720 RCV001029719 RCV001029718 RCV001029717 RCV001029716 RCV001029715 RCV001029714 RCV001029713 RCV001029712 RCV001029711 RCV001029710 RCV001029709 RCV001029708 RCV001028897 RCV001028896 RCV001028895 RCV001028894 RCV001028893 RCV001028892 RCV001028891 RCV001028890 RCV001028889 RCV001028886 RCV001028885 RCV001028884 RCV001028883 RCV001028882 RCV001029707 RCV001029706 RCV001029705 RCV001029704 RCV001029703 RCV001029702 RCV001029701 RCV001029700 RCV001029699 RCV001029698 RCV001029697 RCV001029696 RCV001029695 RCV001029694 RCV001029693 RCV001028881 RCV001028879 RCV001028878 RCV001028877 RCV001028876 RCV001028875 RCV001028874 RCV001028873 RCV001028872 RCV001028871 RCV001028870 RCV001028869 RCV001028868 RCV001028867 RCV001028866 RCV001029691 RCV001029690 RCV001029689 RCV001029688 RCV001029687 RCV001029686 RCV001029685 RCV001029684 RCV001029683 RCV001029682 RCV001029681 RCV001029680 RCV001029679 RCV001029678 RCV001029677 RCV001029676 RCV001028865 RCV001028864 RCV001028863 RCV001028862 RCV001028861 RCV001028860 RCV001028859 RCV001028858 RCV001028857 RCV001028856 RCV001028855 RCV001028854 RCV001028853 RCV001028852 RCV001028851 RCV001028850 RCV001029675 RCV001029674 RCV001029673 RCV001029672 RCV001029671 RCV001029670 RCV001029669 RCV001029668 RCV001029667 RCV001029666 RCV001029665 RCV001029664 RCV001029663 RCV001029662 RCV001029661 RCV001029660 RCV001028849 RCV001028848 RCV001028847 RCV001028846 RCV001028845 RCV001028844 RCV001028843 RCV001028842 RCV001028841 RCV001028840 RCV001028839 RCV001028838 RCV001028837 RCV001028836 RCV001028835 RCV001028834 RCV001029659 RCV001029658 RCV001029657 RCV001029656 RCV001029655 RCV001029654 RCV001029653 RCV001029652 RCV001029651 RCV001029650 RCV001029649 RCV001029648 RCV001029647 RCV001029646 RCV001029645 RCV001029644 RCV001028833 RCV001028832 RCV001028831 RCV001028830

Associations from Text Mining
Disease Name	Relationship Type	References
22q11 Deletion Syndrome	Inhibit	17028864
22q11 Deletion Syndrome	Associate	17217925
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	19406978
Abdominal Pain	Associate	28252569
Acute Coronary Syndrome	Associate	17205121, 17264883
Acute Kidney Injury	Associate	19406978, 29426301
Acute Pain	Associate	25102390, 29195501, 32162598, 38408640
Agoraphobia	Associate	38228118
AIDS Associated Nephropathy	Associate	26037113, 31021849
Akathisia Drug Induced	Associate	22615781
Akinetic Mutism	Associate	29472644
Alcohol Related Disorders	Associate	17599809, 27134498
Alcoholism	Associate	38228118
Alzheimer Disease	Associate	18842138, 19793392, 28707072, 29281938, 29480189, 31771069, 32925069, 35599479
Anemia Sickle Cell	Associate	25102390, 32162598, 35285297
Anhedonia	Associate	19025226, 26096878, 34287249, 39358340
Anodontia	Associate	30712251
Anorexia	Associate	34856753
Anorexia Nervosa	Associate	23046831
Antisocial Personality Disorder	Associate	19997043
Anxiety	Associate	15673663, 17504250, 18436194, 18578865, 19398820, 19582565, 20488547, 21110842, 21437260, 23025981, 23112822, 23475824, 24118915, 25598522, 25722948, 28205449, 28252569, 28614354, 30628551, 30909076, 34199792, 34330229, 35346044, 36292653, 37510262, 38228118
Anxiety Disorders	Associate	18436194, 20488547, 24118915, 38228118
Aphasia	Associate	34287249
Aphasia Primary Progressive	Associate	32397876
Arthralgia	Associate	29912452
Asthma	Associate	36395102
Atherosclerosis	Associate	22790479
Atrophy	Associate	18755526
Attention Deficit Disorder with Hyperactivity	Associate	16734939, 17109713, 17886261, 17949513, 18094258, 18580877, 19582565, 19858760, 19997043, 20736997, 20868372, 24163823, 25201318, 25319752, 26560848, 27327562, 28614354, 28630479, 28675949, 28687733, 30379906, 34573389, 34889236
Auditory Perceptual Disorders	Associate	27327562
Autism Spectrum Disorder	Associate	19582565, 23613504, 24015051, 25325218
Back Pain	Associate	24904231
Bipolar Disorder	Associate	16756688, 16984965, 18201871, 18571901, 22370993, 23421957, 23646156, 23861766, 25744938, 27039372, 27063557, 27458023, 27622935, 29565503, 35328036
Body Weight	Associate	25216558, 34573389
Borderline Personality Disorder	Associate	20205808, 22139575, 22247753, 34051678
Brain Concussion	Associate	35627205
Brain Diseases	Associate	18769474, 32997444
Brain Injuries Traumatic	Associate	26394291, 26576546, 27154305, 27769642, 28060209
Brain Neoplasms	Associate	23956130, 27091610, 31123752
Breast Neoplasms	Associate	11556837, 14612555, 15031283, 15237001, 15241822, 16672066, 17295924, 17562079, 17582757, 17689241, 17964424, 17980711, 18632656, 19308726, 20037207, 20591221, 20596647, 21425136, 21673435, 21974969, 24343288, 24460628, 24629213, 26206423, 28205449, 30461653, 32985495, 36672750, 37184910
Breast Neoplasms	Stimulate	30461653
Bulimia	Associate	19447357, 25216558
Bulimia Nervosa	Associate	25216558
Cancer Pain	Associate	17156920, 19094200, 35710811, 36426809
Carcinogenesis	Associate	18474869, 20591221, 27644662, 37564635
Carcinoma Hepatocellular	Associate	30136421
Cardiovascular Diseases	Associate	18842138, 25728832, 27282867, 30045690, 31838976
Cardiovascular Diseases	Inhibit	31838976
Carpal Tunnel Syndrome	Associate	24077209
Central Nervous System Diseases	Associate	17980711
Cerebral Infarction	Associate	23112845
Chronic Disease	Associate	39187813
Chronic Pain	Associate	23773341, 31021849, 31041874, 31490699, 33926923, 36100778, 36672750, 37187218
Chronic Traumatic Encephalopathy	Associate	29338612
Chronobiology Disorders	Associate	20123031
Cognition Disorders	Associate	19369177, 19793392, 21425136, 22573634, 23992923, 25080285, 26576546, 27039372, 27061069, 28869277, 29439855, 29480189, 30424994, 30935427, 32397876, 32985495, 33731765, 37510262, 38176157
Cognitive Dysfunction	Associate	19793392
Colorectal Neoplasms	Associate	23880798, 32059146
Compulsive Personality Disorder	Associate	34856753
Conduct Disorder	Associate	19997043
Conversion Disorder	Associate	23613193, 26560848, 29314589
Coronary Disease	Associate	17264883
Corticobasal Degeneration	Associate	32397876
Craniocerebral Trauma	Associate	26576546
Cutaneous Fistula	Associate	24946318, 28259860
Cyclothymic Disorder	Associate	30991630
Death	Associate	17577421, 25722988
Delirium	Associate	30424994
Dementia	Associate	27061069
Dentin Sensitivity	Associate	24342707
Depressive Disorder	Associate	16756688, 18578865, 18828035, 21110842, 21437260, 22612913, 22832732, 23025981, 23475824, 24077209, 24373571, 27154305, 28205449, 28252569, 28590587, 28740224, 30045690, 34199792, 34856753, 36834016, 37510262
Depressive Disorder Major	Associate	16756688, 18436194, 32459054
Diabetes Mellitus Type 2	Associate	19690620, 27282867, 32925069
Diarrhea	Associate	25037115
DiGeorge Syndrome	Associate	15846854, 16511839, 16734939, 17427209, 17949513, 18769474, 19246329, 20123031, 20488547, 20817203, 21998713, 22763378, 23992923, 24448439, 25325218, 26221035, 27619075, 30935427, 36869225, 39496467
DiGeorge Syndrome	Inhibit	23992923
Disorders of Excessive Somnolence	Associate	34871222
Disorders of Excessive Somnolence	Stimulate	34871222
Disruptive Impulse Control and Conduct Disorders	Associate	20736997, 23155402, 24749760, 35328036
Dissociative Disorders	Associate	17608961
Dizziness	Associate	23112822
Drug Related Side Effects and Adverse Reactions	Associate	17964424
Drug Resistant Epilepsy	Associate	30909076
Dyskinesia Drug Induced	Associate	23093014, 24008922, 29578580, 30075828, 32533012, 32931693
Embolism Fat	Associate	15229337
Emergence Delirium	Associate	30424994
Endometrial Hyperplasia	Associate	25741405
Endometrial Neoplasms	Associate	25741405, 28074437
Endometriosis	Associate	12168735, 28074437, 30608422
Epilepsy Temporal Lobe	Associate	34102472
Erythema	Associate	35710811
Facial Pain	Associate	33030089
Fatigue	Associate	27720787, 33909692
Fatigue Syndrome Chronic	Associate	19647494, 26272340, 27457818, 36284330
Feeding and Eating Disorders	Associate	19447357, 25216558, 38228118
Fetal Macrosomia	Associate	33826421
Fetofetal Transfusion	Associate	21884617
Fibromyalgia	Associate	17961261, 21130573, 23025981, 24342707, 29486785, 33909692, 36100778, 36284330, 37305098
Food Addiction	Associate	30139393
Fragile X Syndrome	Associate	32862204, 40054504
Frontotemporal Dementia	Associate	32397876, 32444540
Frontotemporal Lobar Degeneration	Associate	32444540
general anxiety disorder	Associate	17504250
Glioblastoma	Associate	35802478
Gout	Associate	26147675
Hallucinations	Associate	19369177, 30712251, 32710539, 34684144
Headache	Associate	16688411, 23773341
Hearing Disorders	Associate	28560854
Hearing Loss	Associate	23588304
Heart Diseases	Associate	28399184
Hemochromatosis	Associate	19406978
Hereditary Sensory and Autonomic Neuropathies	Associate	31021849
Heroin Dependence	Associate	23155402
HIV Infections	Associate	23807274, 25515329, 31107306
Hot Flashes	Associate	32217888
Hyperalgesia	Associate	31041874
Hypercholesterolemia	Associate	40532247
Hyperkinesis	Associate	25987702, 27327562
Hypertension	Associate	28746172
Hypothyroidism	Associate	36292653
Hypoxia	Inhibit	19653907
Ichthyosis Bullosa of Siemens	Associate	25722948
IgA Vasculitis	Associate	37305098
Infections	Associate	26272340
Inflammation	Associate	36284330
Internal Hernia	Associate	23475824
Intervertebral Disc Degeneration	Associate	24904231
Intervertebral disc disease	Associate	22612913, 30158547
Irritable Bowel Syndrome	Associate	21437260, 23110189, 25037115, 25722948, 28252569, 31833409
Kidney Diseases	Associate	28560854
Knee Fractures	Associate	38408640
Leiomyoma	Associate	19809499
Leukoencephalopathies	Associate	24551149
Low Back Pain	Associate	22612913, 23773341
Lung Diseases	Associate	30109864, 39187813
Lung Neoplasms	Associate	19174490, 30109864
Lymphangioleiomyomatosis	Associate	10856317
Memory Disorders	Associate	23337869, 25515329, 32985495, 36100778
Mental Disorders	Associate	12366871, 15031283, 15846854, 16483362, 16734939, 17577421, 17949513, 18436194, 18826446, 18828035, 19605537, 20123031, 20488547, 21486391, 21656904, 22216231, 22997551, 23861766, 25722988, 27154305, 30424994, 30909076, 30991630, 32433545, 34682575, 34856753, 37510262, 38228118, 9114031
Mental Retardation Autosomal Recessive 1	Associate	27619075
Metabolic Syndrome	Associate	22370993, 22391769
Microtrauma Physical	Associate	34682575
Migraine Disorders	Associate	16688411, 23773341, 25598522
Mood Disorders	Associate	21073668, 22745815, 22832732
Multiple Sclerosis	Associate	24290452
Muscle Hypotonia	Associate	20053888
Muscle Rigidity	Associate	22615781
Muscular Dystrophy Duchenne	Associate	15537444, 17451372
Musculoskeletal Diseases	Associate	26394291
Musculoskeletal Pain	Associate	20216107, 25218601
Myocardial Infarction	Associate	17577421
Myocardial Ischemia	Associate	17577421
Neoplasms	Associate	15596044, 17577421, 17689241, 17964424, 18159252, 19094200, 21425136, 21974969, 23956130, 24460628, 26798414, 30042310, 30109864, 30136421, 30624689, 33848569, 37187218, 37564635
Neoplasms Germ Cell and Embryonal	Associate	23588304
Neuralgia	Associate	31021849
Neurobehavioral Manifestations	Associate	23861766, 24460628, 27061069
Neurocognitive Disorders	Associate	31107306
Neurodegenerative Diseases	Associate	22573634, 26037113, 34681035
Neuroinflammatory Diseases	Associate	25987702
Neurologic Manifestations	Associate	23613193, 25080285
Obesity	Associate	19690620, 27228958, 30991630
Obesity Abdominal	Associate	26329592
Obsessive Compulsive Disorder	Associate	15005715, 16427255, 16734939, 17949513, 19398820, 19676096, 26996573, 36641432, 9114031
Osteoarthropathy Primary Hypertrophic	Associate	34151861
Ovarian Diseases	Associate	22178088
Ovarian Neoplasms	Associate	23757313
Pain	Associate	16623937, 16688411, 17156920, 17686583, 17961261, 19094200, 20216107, 21130573, 21934178, 22247753, 22612913, 23110189, 23773341, 24077209, 24178190, 24290452, 24342707, 24343288, 24460628, 24825955, 24904231, 25102390, 25218601, 25598522, 25599310, 25722948, 26198390, 26207649, 28205449, 28315479, 28740224, 30628551, 30904518, 31021849, 31041874, 31490699, 31891763, 33848569, 33909692, 34051678, 34283174, 34681035, 34948872, 35285297, 36284330, 36395102, 36426809, 36672750, 37184910, 37187218, 38198369, 38408640
Pain Insensitivity Congenital	Associate	35346044
Pain Postoperative	Associate	24343288, 38408640
Paine syndrome	Associate	21437260, 34283174
Panic Disorder	Associate	15009906, 18436194, 27134498, 32723321, 38228118
Paranoid Disorders	Associate	18721261, 19944543, 21656904
Paresis	Associate	24373571
Parkinson Disease	Associate	17475791, 18755526, 21781348, 23093014, 23408064, 23466833, 24749760, 24825955, 25080285, 27061069, 28399184, 28740224, 28869277, 29247072, 29439855, 29578580, 30897147, 32022467, 32533012, 33021874, 33539026
Patellofemoral Pain Syndrome	Associate	38408640
Pediatric Obesity	Associate	17608961
Periodontitis	Associate	36395102
Persistent Infection	Associate	29195501
Personality Disorders	Associate	18828035, 23155402, 24749760
Phobia Social	Associate	19582565, 34856753
Polycystic Ovary Syndrome	Associate	22178088
Polyendocrinopathies Autoimmune	Associate	17686583
Polyneuropathies	Associate	28759974
Postoperative Nausea and Vomiting	Associate	27729204, 27803457
Postural Orthostatic Tachycardia Syndrome	Associate	34764114
Pre Eclampsia	Associate	33155880, 33537808
Precancerous Conditions	Associate	11556837, 21610218
Primary Ovarian Insufficiency	Associate	24808926
Prostatic Neoplasms	Associate	19022961, 20628004, 27074016
Prostatitis	Associate	14508827
Psychological Trauma	Associate	34856753
Psychotic Disorders	Associate	16734939, 21073668, 23799032, 23992923, 25722988, 30935427, 39358340
Radiation Injuries	Associate	35802478
Renal Insufficiency Chronic	Associate	18366720
Respiratory Distress Syndrome	Associate	22745815
Respiratory Tract Diseases	Associate	34895312
Respiratory Tract Infections	Associate	26272340
Restless Legs Syndrome	Associate	18226951
Salivary Gland Diseases	Associate	36395102
Schizophrenia	Associate	15613245, 15931594, 16483362, 16734939, 16984965, 17217925, 18159252, 18201871, 18381357, 18571901, 19025226, 19369177, 20026221, 22216231, 22370993, 22391769, 22992330, 23030509, 23932573, 25319752, 25722988, 27244233, 27458023, 28273278, 30909076, 32626976, 32950905, 34287249, 36641432, 37510262, 37564635, 38427212
Schizophrenia Treatment Resistant	Associate	36980961
Segmentation syndrome 1	Associate	35690140
Sexual Trauma	Associate	17504250
Shock	Associate	19406978
Shoulder Pain	Associate	17686583, 25599310, 36672750
Sleep Deprivation	Associate	22216231, 29248857, 33920292
Sleep Wake Disorders	Associate	19037200, 22216231, 29472644, 31553501
Smoke Inhalation Injury	Associate	21781348, 39187813
Somatoform Disorders	Associate	37510262
Spinal Dysraphism	Associate	21204206
Squamous Cell Carcinoma of Head and Neck	Associate	35830713
Starvation	Associate	23046831
Stiff Person Syndrome	Associate	22745815
Stomach Neoplasms	Associate	19015200
Stress Disorders Post Traumatic	Associate	25057194, 27769642, 33865170
Substance Related Disorders	Associate	17608961, 32433545, 34681035, 38228118
Sveinsson Chorioretinal Atrophy	Associate	29912452
Syncope	Associate	30636478
Syncope Vasovagal	Associate	36140820
Temporomandibular Joint Disorders	Associate	20216107, 22074755, 25218601, 26198390, 33030089, 33622085, 40435063
Temporomandibular Joint Dysfunction Syndrome	Stimulate	36445911
Temporomandibular Joint Dysfunction Syndrome	Associate	36445911
Thinness	Associate	23046831
Thrombophilia	Associate	15237001
Thrombosis	Associate	31838976
Tics	Associate	19582565
Tobacco Use Disorder	Associate	34895312
Triple Negative Breast Neoplasms	Associate	25722988, 27622935, 34287249
Urinary Bladder Neoplasms	Associate	15596044, 21397529, 30642841
Urinary Bladder Overactive	Associate	23613504
Uterine Cervical Neoplasms	Associate	26798414
Vascular Diseases	Associate	25728832
Voice Disorders	Associate	26313260, 37510262
Vomiting	Associate	35710811
Wounds and Injuries	Associate	17608961, 22745815, 23155402