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:0005515	Function	Protein binding	IPI	16189514, 19060904, 32296183, 32814053
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0008168	Function	Methyltransferase activity	TAS
GO:0008171	Function	O-methyltransferase activity	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016206	Function	Catechol O-methyltransferase activity	IBA	21873635
GO:0016206	Function	Catechol O-methyltransferase activity	IDA	11559542, 15645182, 21846718
GO:0016206	Function	Catechol O-methyltransferase activity	TAS
GO:0030424	Component	Axon	IBA	21873635
GO:0030425	Component	Dendrite	IBA	21873635
GO:0032259	Process	Methylation	IDA	11559542
GO:0032259	Process	Methylation	TAS
GO:0032502	Process	Developmental process	IBA	21873635
GO:0042135	Process	Neurotransmitter catabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	IBA	21873635
GO:0042424	Process	Catecholamine catabolic process	IBA	21873635
GO:0042424	Process	Catecholamine catabolic process	IDA	11559542, 15645182, 21846718
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0102084	Function	L-dopa O-methyltransferase activity	IEA
GO:0102938	Function	Orcinol O-methyltransferase activity	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
Disease term	Disease name	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs786205019	10490706
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	16917939
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	16077979, 15455371, 9407957
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	9407957, 15455371, 16077979
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Conotruncal anomaly face syndrome	CONOTRUNCAL ANOMALY FACE SYNDROME	rs28939675, rs1601294362	8886163
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Digeorge syndrome	DiGeorge Syndrome	rs587776825, rs1555895466	8886163
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	16077979, 9407957, 15455371
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Persistent truncus arteriosus	Truncus Arteriosus, Persistent	rs267606914, rs1598737972, rs387906813
Pheochromocytoma	Pheochromocytoma	rs121908826, rs121908830, rs121908821, rs5030821, rs5030820, rs104893826, rs5030808, rs587776644, rs80338844, rs104894306, rs104894309, rs75076352, rs75996173, rs77709286, rs74799832, rs387906651, rs121908813, rs121908822, rs121908814, rs121908825, rs121908827, rs121908829, rs121908831, rs121908815, rs587781773, rs786203251, rs786202100, rs864321636, rs864321638, rs864321639, rs864321643, rs864321641, rs864321642, rs864321640, rs864321644, rs876659130, rs876658477, rs878854594, rs886039439, rs886041237, rs121908816, rs1131691061, rs760169139, rs780133289, rs1558752379	22569243
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Schizophrenia	Schizophrenia, Schizophrenia Spectrum and Other Psychotic Disorders	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	20561508, 18583979, 17123785, 16234811, 28195063
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
22q11.2 deletion syndrome	22q11.2 deletion syndrome			ClinVar
Asthma	Asthma			ClinVar
Behavior disorders	Behavior Disorders		16780746	ClinVar
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease			ClinVar
Major affective disorder	MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9			ClinVar
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Major Depressive Disorder		25037115, 25011686, 24679392, 25106036, 24661160, 25766270, 23351565, 24555772, 24751310, 23706899, 6846043	ClinVar
Otitis media	Chronic otitis media			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Metabolic Syndrome	Metabolic Syndrome			GWAS

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