PTGS1 (prostaglandin-endoperoxide synthase 1)

Gene

• Entrez ID: 5742
• Gene name: Prostaglandin-endoperoxide synthase 1
• Gene symbol: PTGS1
• Synonyms (NCBI Gene): COX1, COX3, PCOX1, PES-1, PGG/HS, PGHS-1, PGHS1, PHS1, PTGHS
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Bas

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs10306114	A>G	Drug-response	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023020	hsa-miR-124-3p	Microarray	18668037
MIRT040875	hsa-miR-18a-3p	CLASH	23622248
MIRT717703	hsa-miR-4446-3p	HITS-CLIP	19536157
MIRT717702	hsa-miR-125a-5p	HITS-CLIP	19536157
MIRT717701	hsa-miR-125b-5p	HITS-CLIP	19536157
MIRT717700	hsa-miR-4319	HITS-CLIP	19536157
MIRT717699	hsa-miR-4324	HITS-CLIP	19536157
MIRT717698	hsa-miR-1913	HITS-CLIP	19536157
MIRT717697	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT040875	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT717696	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT717695	hsa-miR-4721	HITS-CLIP	19536157
MIRT717694	hsa-miR-7976	HITS-CLIP	19536157
MIRT717693	hsa-miR-3173-5p	HITS-CLIP	19536157
MIRT717692	hsa-miR-6799-3p	HITS-CLIP	19536157
MIRT717691	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT717690	hsa-miR-626	HITS-CLIP	19536157
MIRT717689	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT717688	hsa-miR-1249-5p	HITS-CLIP	19536157
MIRT717687	hsa-miR-6797-5p	HITS-CLIP	19536157
MIRT717686	hsa-miR-4675	HITS-CLIP	19536157
MIRT717685	hsa-miR-4741	HITS-CLIP	19536157
MIRT717684	hsa-miR-346	HITS-CLIP	19536157
MIRT717683	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT717682	hsa-miR-874-3p	HITS-CLIP	19536157
MIRT717681	hsa-miR-6515-5p	HITS-CLIP	19536157
MIRT717680	hsa-miR-4288	HITS-CLIP	19536157
MIRT717679	hsa-miR-632	HITS-CLIP	19536157
MIRT495089	hsa-miR-3651	PAR-CLIP	22291592
MIRT495088	hsa-miR-7153-5p	PAR-CLIP	22291592
MIRT495089	hsa-miR-3651	PAR-CLIP	23708386
MIRT495088	hsa-miR-7153-5p	PAR-CLIP	23708386
MIRT733998	hsa-miR-512-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32678165
MIRT717703	hsa-miR-4446-3p	HITS-CLIP	19536157
MIRT717702	hsa-miR-125a-5p	HITS-CLIP	19536157
MIRT717701	hsa-miR-125b-5p	HITS-CLIP	19536157
MIRT717700	hsa-miR-4319	HITS-CLIP	19536157
MIRT717699	hsa-miR-4324	HITS-CLIP	19536157
MIRT717698	hsa-miR-1913	HITS-CLIP	19536157
MIRT717697	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT040875	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT717696	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT717695	hsa-miR-4721	HITS-CLIP	19536157
MIRT717694	hsa-miR-7976	HITS-CLIP	19536157
MIRT717693	hsa-miR-3173-5p	HITS-CLIP	19536157
MIRT717692	hsa-miR-6799-3p	HITS-CLIP	19536157
MIRT717691	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT717690	hsa-miR-626	HITS-CLIP	19536157
MIRT717689	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT717688	hsa-miR-1249-5p	HITS-CLIP	19536157
MIRT717687	hsa-miR-6797-5p	HITS-CLIP	19536157
MIRT717686	hsa-miR-4675	HITS-CLIP	19536157
MIRT717685	hsa-miR-4741	HITS-CLIP	19536157
MIRT717684	hsa-miR-346	HITS-CLIP	19536157
MIRT717683	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT717682	hsa-miR-874-3p	HITS-CLIP	19536157
MIRT717681	hsa-miR-6515-5p	HITS-CLIP	19536157
MIRT717680	hsa-miR-4288	HITS-CLIP	19536157
MIRT717679	hsa-miR-632	HITS-CLIP	19536157
MIRT495089	hsa-miR-3651	PAR-CLIP	22291592
MIRT495088	hsa-miR-7153-5p	PAR-CLIP	22291592
MIRT495089	hsa-miR-3651	PAR-CLIP	23708386
MIRT495088	hsa-miR-7153-5p	PAR-CLIP	23708386
MIRT1273327	hsa-miR-148a	CLIP-seq
MIRT1273328	hsa-miR-148b	CLIP-seq
MIRT1273329	hsa-miR-152	CLIP-seq
MIRT1273330	hsa-miR-3065-3p	CLIP-seq
MIRT1273331	hsa-miR-3074-5p	CLIP-seq
MIRT1273332	hsa-miR-3173-3p	CLIP-seq
MIRT1273333	hsa-miR-3194-3p	CLIP-seq
MIRT1273334	hsa-miR-338-3p	CLIP-seq
MIRT1273335	hsa-miR-339-5p	CLIP-seq
MIRT1273336	hsa-miR-370	CLIP-seq
MIRT1273337	hsa-miR-3920	CLIP-seq
MIRT1273338	hsa-miR-4264	CLIP-seq
MIRT1273339	hsa-miR-4269	CLIP-seq
MIRT1273340	hsa-miR-433	CLIP-seq
MIRT1273341	hsa-miR-4428	CLIP-seq
MIRT1273342	hsa-miR-4477b	CLIP-seq
MIRT1273343	hsa-miR-4530	CLIP-seq
MIRT1273344	hsa-miR-4690-3p	CLIP-seq
MIRT1273345	hsa-miR-4797-3p	CLIP-seq
MIRT1273346	hsa-miR-490-5p	CLIP-seq
MIRT1273347	hsa-miR-512-5p	CLIP-seq
MIRT1273348	hsa-miR-539	CLIP-seq
MIRT1273349	hsa-miR-581	CLIP-seq
MIRT1273350	hsa-miR-590-3p	CLIP-seq
MIRT1273351	hsa-miR-592	CLIP-seq
MIRT1273352	hsa-miR-597	CLIP-seq
MIRT1273353	hsa-miR-599	CLIP-seq
MIRT1273354	hsa-miR-617	CLIP-seq
MIRT1273355	hsa-miR-668	CLIP-seq
MIRT1273356	hsa-miR-874	CLIP-seq
MIRT1273357	hsa-miR-298	CLIP-seq
MIRT1273358	hsa-miR-3121-3p	CLIP-seq
MIRT1273359	hsa-miR-4524	CLIP-seq
MIRT2080401	hsa-miR-1197	CLIP-seq
MIRT2080402	hsa-miR-2276	CLIP-seq
MIRT2080403	hsa-miR-33a	CLIP-seq
MIRT2080404	hsa-miR-33b	CLIP-seq
MIRT2080405	hsa-miR-3622a-5p	CLIP-seq
MIRT1273338	hsa-miR-4264	CLIP-seq
MIRT2080406	hsa-miR-4423-3p	CLIP-seq
MIRT2080407	hsa-miR-4436a	CLIP-seq
MIRT2080408	hsa-miR-4696	CLIP-seq
MIRT2080409	hsa-miR-4700-3p	CLIP-seq
MIRT2080410	hsa-miR-4731-3p	CLIP-seq
MIRT1273345	hsa-miR-4797-3p	CLIP-seq
MIRT2080411	hsa-miR-4801	CLIP-seq
MIRT2080412	hsa-miR-645	CLIP-seq
MIRT1273327	hsa-miR-148a	CLIP-seq
MIRT1273328	hsa-miR-148b	CLIP-seq
MIRT1273329	hsa-miR-152	CLIP-seq
MIRT2306567	hsa-miR-30a	CLIP-seq
MIRT2306568	hsa-miR-30b	CLIP-seq
MIRT2306569	hsa-miR-30c	CLIP-seq
MIRT2306570	hsa-miR-30d	CLIP-seq
MIRT2306571	hsa-miR-30e	CLIP-seq
MIRT2306572	hsa-miR-3671	CLIP-seq
MIRT1273337	hsa-miR-3920	CLIP-seq
MIRT2306573	hsa-miR-412	CLIP-seq
MIRT1273338	hsa-miR-4264	CLIP-seq
MIRT1273339	hsa-miR-4269	CLIP-seq
MIRT2306574	hsa-miR-4290	CLIP-seq
MIRT2306575	hsa-miR-4291	CLIP-seq
MIRT2306576	hsa-miR-4420	CLIP-seq
MIRT2306577	hsa-miR-4436b-3p	CLIP-seq
MIRT2306578	hsa-miR-4695-3p	CLIP-seq
MIRT2080409	hsa-miR-4700-3p	CLIP-seq
MIRT2306579	hsa-miR-4762-5p	CLIP-seq
MIRT1273345	hsa-miR-4797-3p	CLIP-seq
MIRT1273347	hsa-miR-512-5p	CLIP-seq
MIRT2306580	hsa-miR-607	CLIP-seq
MIRT2306581	hsa-miR-622	CLIP-seq
MIRT2306582	hsa-miR-873	CLIP-seq
MIRT2604189	hsa-miR-1	CLIP-seq
MIRT2604190	hsa-miR-1179	CLIP-seq
MIRT2604191	hsa-miR-1208	CLIP-seq
MIRT2604192	hsa-miR-1299	CLIP-seq
MIRT2604193	hsa-miR-1323	CLIP-seq
MIRT2604194	hsa-miR-146a	CLIP-seq
MIRT2604195	hsa-miR-146b-5p	CLIP-seq
MIRT2604196	hsa-miR-206	CLIP-seq
MIRT2604197	hsa-miR-3122	CLIP-seq
MIRT2604198	hsa-miR-3128	CLIP-seq
MIRT2604199	hsa-miR-3130-5p	CLIP-seq
MIRT2604200	hsa-miR-3157-5p	CLIP-seq
MIRT2604201	hsa-miR-3179	CLIP-seq
MIRT2604202	hsa-miR-3193	CLIP-seq
MIRT2604203	hsa-miR-323b-5p	CLIP-seq
MIRT2604204	hsa-miR-335	CLIP-seq
MIRT2604205	hsa-miR-3673	CLIP-seq
MIRT2604206	hsa-miR-378	CLIP-seq
MIRT2604207	hsa-miR-378b	CLIP-seq
MIRT2604208	hsa-miR-378c	CLIP-seq
MIRT2604209	hsa-miR-378d	CLIP-seq
MIRT2604210	hsa-miR-378e	CLIP-seq
MIRT2604211	hsa-miR-378f	CLIP-seq
MIRT2604212	hsa-miR-378h	CLIP-seq
MIRT2604213	hsa-miR-378i	CLIP-seq
MIRT2604214	hsa-miR-3913-5p	CLIP-seq
MIRT2604215	hsa-miR-422a	CLIP-seq
MIRT2604216	hsa-miR-4252	CLIP-seq
MIRT2306575	hsa-miR-4291	CLIP-seq
MIRT2604217	hsa-miR-4310	CLIP-seq
MIRT2604218	hsa-miR-4482	CLIP-seq
MIRT2604219	hsa-miR-450b-3p	CLIP-seq
MIRT2604220	hsa-miR-4511	CLIP-seq
MIRT2604221	hsa-miR-4520a-5p	CLIP-seq
MIRT2604222	hsa-miR-4520b-5p	CLIP-seq
MIRT2604223	hsa-miR-4638-3p	CLIP-seq
MIRT2604224	hsa-miR-4691-3p	CLIP-seq
MIRT2604225	hsa-miR-4714-5p	CLIP-seq
MIRT2604226	hsa-miR-4720-5p	CLIP-seq
MIRT2604227	hsa-miR-4778-5p	CLIP-seq
MIRT2604228	hsa-miR-4782-5p	CLIP-seq
MIRT2604229	hsa-miR-4799-3p	CLIP-seq
MIRT2604230	hsa-miR-483-3p	CLIP-seq
MIRT2604231	hsa-miR-505	CLIP-seq
MIRT2604232	hsa-miR-508-5p	CLIP-seq
MIRT1273347	hsa-miR-512-5p	CLIP-seq
MIRT2604233	hsa-miR-516b	CLIP-seq
MIRT2604234	hsa-miR-548aa	CLIP-seq
MIRT2604235	hsa-miR-548b-3p	CLIP-seq
MIRT2604236	hsa-miR-548o	CLIP-seq
MIRT2604237	hsa-miR-589	CLIP-seq
MIRT2604238	hsa-miR-596	CLIP-seq
MIRT2604239	hsa-miR-613	CLIP-seq
MIRT2604240	hsa-miR-630	CLIP-seq
MIRT2604241	hsa-miR-665	CLIP-seq
MIRT2604242	hsa-miR-769-3p	CLIP-seq
MIRT2306582	hsa-miR-873	CLIP-seq
MIRT2604243	hsa-miR-875-3p	CLIP-seq
MIRT2604189	hsa-miR-1	CLIP-seq
MIRT2604190	hsa-miR-1179	CLIP-seq
MIRT2604191	hsa-miR-1208	CLIP-seq
MIRT2604192	hsa-miR-1299	CLIP-seq
MIRT2604194	hsa-miR-146a	CLIP-seq
MIRT2604195	hsa-miR-146b-5p	CLIP-seq
MIRT2604196	hsa-miR-206	CLIP-seq
MIRT2604197	hsa-miR-3122	CLIP-seq
MIRT2604198	hsa-miR-3128	CLIP-seq
MIRT2604199	hsa-miR-3130-5p	CLIP-seq
MIRT2604200	hsa-miR-3157-5p	CLIP-seq
MIRT2604201	hsa-miR-3179	CLIP-seq
MIRT2604203	hsa-miR-323b-5p	CLIP-seq
MIRT2604205	hsa-miR-3673	CLIP-seq
MIRT2604214	hsa-miR-3913-5p	CLIP-seq
MIRT2604216	hsa-miR-4252	CLIP-seq
MIRT2306575	hsa-miR-4291	CLIP-seq
MIRT2604217	hsa-miR-4310	CLIP-seq
MIRT2604218	hsa-miR-4482	CLIP-seq
MIRT2604219	hsa-miR-450b-3p	CLIP-seq
MIRT2604220	hsa-miR-4511	CLIP-seq
MIRT2604224	hsa-miR-4691-3p	CLIP-seq
MIRT2604226	hsa-miR-4720-5p	CLIP-seq
MIRT2604227	hsa-miR-4778-5p	CLIP-seq
MIRT2604228	hsa-miR-4782-5p	CLIP-seq
MIRT2604229	hsa-miR-4799-3p	CLIP-seq
MIRT2604230	hsa-miR-483-3p	CLIP-seq
MIRT2604231	hsa-miR-505	CLIP-seq
MIRT2604233	hsa-miR-516b	CLIP-seq
MIRT2604235	hsa-miR-548b-3p	CLIP-seq
MIRT2604237	hsa-miR-589	CLIP-seq
MIRT2604239	hsa-miR-613	CLIP-seq
MIRT2604240	hsa-miR-630	CLIP-seq
MIRT2689052	hsa-miR-7	CLIP-seq
MIRT2604242	hsa-miR-769-3p	CLIP-seq
MIRT2306582	hsa-miR-873	CLIP-seq
MIRT2604243	hsa-miR-875-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF10	Activation	23178857

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001516	Process	Prostaglandin biosynthetic process	ISS
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0004601	Function	Peroxidase activity	IEA
GO:0004666	Function	Prostaglandin-endoperoxide synthase activity	IDA	1380156
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IDA	12355421
GO:0005737	Component	Cytoplasm	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0019371	Process	Cyclooxygenase pathway	IDA	1380156
GO:0019371	Process	Cyclooxygenase pathway	TAS
GO:0020037	Function	Heme binding	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 176805
• HGNC: 9604
• e!Ensembl: ENSG00000095303

Protein

• UniProt ID: P23219
• Protein name: Prostaglandin G/H synthase 1 (EC 1.14.99.1) (Cyclooxygenase-1) (COX-1) (Prostaglandin H2 synthase 1) (PGH synthase 1) (PGHS-1) (PHS 1) (Prostaglandin-endoperoxide synthase 1)
• Protein function: Dual cyclooxygenase and peroxidase that plays an important role in the biosynthesis pathway of prostanoids, a class of C20 oxylipins mainly derived from arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate, AA, C20:4(n-6)), with a particular role in
• PDB: 6Y3C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	33 → 67	EGF-like domain	Domain
  PF03098	An_peroxidase	213 → 576	Animal haem peroxidase	Domain

• Sequence:

  MSRSLLLWFLLFLLLLPPLPVLLADPGAPTPVNPCCYYPCQHQGICVRFGLDRYQCDCTR
  TGYSGPNCTIPGLWTWLRNSLRPSPSFTHFLLTHGRWFWEFVNATFIREMLMRLVLTVRS
  NLIPSPPTYNSAHDYISWESFSNVSYYTRILPSVPKDCPTPMGTKGKKQLPDAQLLARRF
  LLRRKFIPDPQGTNLMFAFFAQHFTHQFFKTSGKMGPGFTKALGHGVDLGHIYGDNLERQ
  YQLRLFKDGKLKYQVLDGEMYPPSVEEAPVLMHYPRGIPPQSQMAVGQEVFGLLPGLMLY
  ATLWLREHNRVCDLLKAEHPTWGDEQLFQTTRLILIGETIKIVIEEYVQQLSGYFLQLKF
  DPELLFGVQFQYRNRIAMEFNHLYHWHPLMPDSFKVGSQEYSYEQFLFNTSMLVDYGVEA
  LVDAFSRQIAGRIGGGRNMDHHILHVAVDVIRESREMRLQPFNEYRKRFGMKPYTSFQEL
  VGEKEMAAELEELYGDIDALEFYPGLLLEKCHPNSIFGESMIEIGAPFSLKGLLGNPICS
  PEYWKPSTFGGEVGFNIVKTATLKKLVCLNTKTCPYVSFRVPDASQDDGPAVERPSTEL

• Sequence length: 599

Pathways

KEGG:

Arachidonic acid metabolism
Metabolic pathways
Platelet activation
Serotonergic synapse
Regulation of lipolysis in adipocytes

Reactome:

COX reactions
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bleeding disorder	Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet	rs121918444, rs398122372, rs398122373, rs773148506, rs1064797083, rs1064797085, rs1064797087, rs761749948	6103258
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	18488158
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	18488158
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12189197
Esophagus neoplasm	Esophageal Neoplasms, Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	12189197
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
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	18488158
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	15167967
Schizophrenia	Schizophrenia	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	22397921

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma, Occupational		25721048	ClinVar
Congestive heart failure	Congestive heart failure		20304815	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		20304815	ClinVar
Myocardial infarction	Myocardial Failure		20304815	ClinVar
Platelet-type bleeding disorder	platelet-type bleeding disorder 12			GenCC
Dementia	Dementia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	35328735
Adenoma	Associate	19205707
Alzheimer Disease	Stimulate	22832605
Alzheimer Disease	Associate	36042609
Arthritis Rheumatoid	Associate	10719816
Arthritis Rheumatoid	Stimulate	33707464
Asthma	Associate	23441755, 25721048
Asthma Aspirin Induced	Associate	16055872, 23441755
Atherosclerosis	Associate	34905596, 36690661
Blood Platelet Disorders	Associate	24989010, 27629384, 28300459
Breast Neoplasms	Associate	10571077, 33800915
Carcinoma Hepatocellular	Inhibit	27965980
Carcinoma Hepatocellular	Associate	31215439
Carcinoma Non Small Cell Lung	Associate	10515422, 11920472
Carcinoma Ovarian Epithelial	Associate	19271346
Carcinoma Renal Cell	Associate	23886173
Carcinoma Squamous Cell	Stimulate	11809691
Carcinoma Squamous Cell	Associate	28886030
Cardiovascular Diseases	Associate	17495879, 26870959
Cerebral Infarction	Associate	31735164
Cerebral Small Vessel Diseases	Associate	31735164
Colitis Ulcerative	Associate	17653443
Colonic Polyps	Associate	37756582
Colorectal Neoplasms	Associate	12734198, 15328521, 18992148, 21976545, 31734182
Colorectal Neoplasms	Stimulate	18992148
Coronary Artery Disease	Associate	24699314, 34905596
Crohn Disease	Associate	19148357
Dental Plaque	Associate	36690661
Diabetes Mellitus	Associate	24136929
Dyslipidemias	Associate	35227068
Endometrial Neoplasms	Associate	18204294, 21816851
Extravasation of Diagnostic and Therapeutic Materials	Associate	32678165
Gerodermia osteodysplastica	Associate	32735324
Gingival Overgrowth	Associate	32455102
Glioblastoma	Associate	29860315
Hemophilia A	Associate	27629384
Hemorrhage	Associate	27629384
Hypoxia	Associate	29860315
Ige Responsiveness Atopic	Associate	16055872
Infertility Male	Associate	22747653
Inflammation	Associate	20818651, 25721048, 35631221
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	19506164
Liver Cirrhosis	Associate	36246566
Lupus Erythematosus Systemic	Associate	24699314
Melanoma	Associate	15251468
Myocardial Infarction	Associate	26658659
Nasal Polyps	Associate	23441755
Neoplasms	Associate	17201156, 31526853, 37481068, 38087324
Nephrosclerosis	Associate	36690661
Neuroblastoma	Associate	17245372
Osteoarthritis	Associate	15262246
Osteoporosis	Associate	33800915
Ovarian Neoplasms	Associate	20404564, 25972361
Pancreatic Neoplasms	Associate	20530583, 24136929
Prostatic Neoplasms	Associate	33623038, 38087324
Psoriasis	Stimulate	31480263
Recurrence	Associate	39179198
Renal Insufficiency Chronic	Associate	35631221
Retinitis Pigmentosa	Stimulate	27297950
Sjogren's Syndrome	Associate	11122255
Smoke Inhalation Injury	Associate	23242413
Spinal Cord Diseases	Inhibit	26214781
Stevens Johnson Syndrome	Associate	25876064
Stomach Diseases	Associate	26830988
Stomach Neoplasms	Associate	11176123
Stroke	Associate	17495879
Synovial Cyst	Associate	8132748
Synovitis	Associate	15262246
Thrombocythemia Essential	Associate	22234683
Thrombocytopenia Platelet Dysfunction Hemolysis and Imbalanced Globin Synthesis	Inhibit	33054111
Uterine Cervical Neoplasms	Stimulate	11809691
Varicocele	Associate	22747653