PLA2G4A (phospholipase A2 group IVA)

Gene

• Entrez ID: 5321
• Gene name: Phospholipase A2 group IVA
• Gene symbol: PLA2G4A
• Synonyms: GURDP, PLA2G4, cPLA2, cPLA2-alpha
• Chromosome: 1
• Chromosome location: 1q31.1
• Summary: This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434634	T>C	Pathogenic	Missense variant, coding sequence variant
rs121434635	G>A	Pathogenic	Missense variant, coding sequence variant
rs1557895416	G>C	Pathogenic	Coding sequence variant, missense variant
rs1557901999	AGTA>-	Pathogenic	Intron variant, splice donor variant
rs1571392612	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022551	hsa-miR-124-3p	Microarray	18668037
MIRT028507	hsa-miR-30a-5p	Proteomics	18668040
MIRT047518	hsa-miR-10a-5p	CLASH	23622248
MIRT041616	hsa-miR-146b-5p	CLASH	23622248
MIRT052653	hsa-miR-449c-5p	CLASH	23622248
MIRT700778	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT700777	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT700776	hsa-miR-940	HITS-CLIP	23313552
MIRT700775	hsa-miR-3929	HITS-CLIP	23313552
MIRT700774	hsa-miR-4419b	HITS-CLIP	23313552
MIRT700773	hsa-miR-4478	HITS-CLIP	23313552
MIRT700772	hsa-miR-6783-5p	HITS-CLIP	23313552
MIRT700771	hsa-miR-5588-3p	HITS-CLIP	23313552
MIRT700770	hsa-miR-2114-5p	HITS-CLIP	23313552
MIRT700769	hsa-miR-5690	HITS-CLIP	23313552
MIRT700768	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT700767	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT700766	hsa-miR-1827	HITS-CLIP	23313552
MIRT700765	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT700764	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT700763	hsa-miR-1909-3p	HITS-CLIP	23313552
MIRT700762	hsa-miR-6722-3p	HITS-CLIP	23313552
MIRT700761	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT700760	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT700759	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT700758	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT700757	hsa-miR-665	HITS-CLIP	23313552
MIRT671771	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT671770	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT671769	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT671768	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT671767	hsa-miR-4284	HITS-CLIP	23824327
MIRT671766	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671765	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT671764	hsa-miR-7977	HITS-CLIP	23824327
MIRT700778	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT700777	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT700776	hsa-miR-940	HITS-CLIP	23313552
MIRT700775	hsa-miR-3929	HITS-CLIP	23313552
MIRT700774	hsa-miR-4419b	HITS-CLIP	23313552
MIRT700773	hsa-miR-4478	HITS-CLIP	23313552
MIRT700772	hsa-miR-6783-5p	HITS-CLIP	23313552
MIRT700771	hsa-miR-5588-3p	HITS-CLIP	23313552
MIRT700770	hsa-miR-2114-5p	HITS-CLIP	23313552
MIRT700769	hsa-miR-5690	HITS-CLIP	23313552
MIRT700768	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT700767	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT700766	hsa-miR-1827	HITS-CLIP	23313552
MIRT700765	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT700764	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT700763	hsa-miR-1909-3p	HITS-CLIP	23313552
MIRT700762	hsa-miR-6722-3p	HITS-CLIP	23313552
MIRT700761	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT700760	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT700759	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT700758	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT700757	hsa-miR-665	HITS-CLIP	23313552
MIRT671771	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT671770	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT671769	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT671768	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT671767	hsa-miR-4284	HITS-CLIP	23824327
MIRT671766	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671765	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT671764	hsa-miR-7977	HITS-CLIP	23824327
MIRT2594860	hsa-miR-1183	CLIP-seq
MIRT2594861	hsa-miR-1301	CLIP-seq
MIRT2594862	hsa-miR-145	CLIP-seq
MIRT2594863	hsa-miR-3180-5p	CLIP-seq
MIRT2594864	hsa-miR-362-5p	CLIP-seq
MIRT2594865	hsa-miR-3647-3p	CLIP-seq
MIRT2594866	hsa-miR-369-3p	CLIP-seq
MIRT2594867	hsa-miR-374a	CLIP-seq
MIRT2594868	hsa-miR-374b	CLIP-seq
MIRT2594869	hsa-miR-383	CLIP-seq
MIRT2594870	hsa-miR-433	CLIP-seq
MIRT2594871	hsa-miR-4660	CLIP-seq
MIRT2594872	hsa-miR-4676-5p	CLIP-seq
MIRT2594873	hsa-miR-4712-5p	CLIP-seq
MIRT2594874	hsa-miR-4714-3p	CLIP-seq
MIRT2594875	hsa-miR-4769-3p	CLIP-seq
MIRT2594876	hsa-miR-4772-5p	CLIP-seq
MIRT2594877	hsa-miR-4795-3p	CLIP-seq
MIRT2594878	hsa-miR-496	CLIP-seq
MIRT2594879	hsa-miR-500b	CLIP-seq
MIRT2594880	hsa-miR-501-5p	CLIP-seq
MIRT2594881	hsa-miR-5047	CLIP-seq
MIRT2594882	hsa-miR-505	CLIP-seq
MIRT2594883	hsa-miR-518a-5p	CLIP-seq
MIRT2594884	hsa-miR-527	CLIP-seq
MIRT2594885	hsa-miR-575	CLIP-seq
MIRT2594886	hsa-miR-579	CLIP-seq
MIRT2594887	hsa-miR-605	CLIP-seq
MIRT2594888	hsa-miR-633	CLIP-seq
MIRT2594889	hsa-miR-770-5p	CLIP-seq
MIRT2594890	hsa-miR-891b	CLIP-seq
MIRT2594860	hsa-miR-1183	CLIP-seq
MIRT2594862	hsa-miR-145	CLIP-seq
MIRT2594864	hsa-miR-362-5p	CLIP-seq
MIRT2594865	hsa-miR-3647-3p	CLIP-seq
MIRT2594869	hsa-miR-383	CLIP-seq
MIRT2594870	hsa-miR-433	CLIP-seq
MIRT2594872	hsa-miR-4676-5p	CLIP-seq
MIRT2594875	hsa-miR-4769-3p	CLIP-seq
MIRT2594876	hsa-miR-4772-5p	CLIP-seq
MIRT2594878	hsa-miR-496	CLIP-seq
MIRT2594879	hsa-miR-500b	CLIP-seq
MIRT2594880	hsa-miR-501-5p	CLIP-seq
MIRT2594883	hsa-miR-518a-5p	CLIP-seq
MIRT2594884	hsa-miR-527	CLIP-seq
MIRT2594885	hsa-miR-575	CLIP-seq
MIRT2594887	hsa-miR-605	CLIP-seq
MIRT2594890	hsa-miR-891b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	11375391
GO:0001516	Process	Prostaglandin biosynthetic process	IDA	27642067
GO:0001516	Process	Prostaglandin biosynthetic process	IEA
GO:0001516	Process	Prostaglandin biosynthetic process	IMP	18451993
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	IEA
GO:0004622	Function	Lysophospholipase activity	IDA	12672805, 16617059, 27642067
GO:0004623	Function	Phospholipase A2 activity	IBA	21873635
GO:0004623	Function	Phospholipase A2 activity	IDA	8702602
GO:0004623	Function	Phospholipase A2 activity	NAS	8381049
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	9430701, 9665851
GO:0005544	Function	Calcium-dependent phospholipid binding	IBA	21873635
GO:0005544	Function	Calcium-dependent phospholipid binding	IDA	9665851
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005635	Component	Nuclear envelope	IDA	11375391
GO:0005737	Component	Cytoplasm	IDA	11375391
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	NAS	8381049
GO:0005829	Component	Cytosol	TAS
GO:0006071	Process	Glycerol metabolic process	IEA
GO:0006640	Process	Monoacylglycerol biosynthetic process	IDA	7794891
GO:0006644	Process	Phospholipid metabolic process	TAS
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0006663	Process	Platelet activating factor biosynthetic process	NAS	9430701
GO:0006690	Process	Icosanoid metabolic process	NAS	9430701
GO:0008374	Function	O-acyltransferase activity	IDA	7794891
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IDA	12672805
GO:0010572	Process	Positive regulation of platelet activation	IMP	18451993
GO:0019369	Process	Arachidonic acid metabolic process	IDA	7794891
GO:0019369	Process	Arachidonic acid metabolic process	IEA
GO:0019369	Process	Arachidonic acid metabolic process	TAS
GO:0019370	Process	Leukotriene biosynthetic process	IMP	18451993
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	12672805
GO:0032308	Process	Positive regulation of prostaglandin secretion	IEA
GO:0034478	Process	Phosphatidylglycerol catabolic process	IDA	9425121
GO:0034638	Process	Phosphatidylcholine catabolic process	IDA	7794891, 9425121, 12672805, 14709560, 17472963
GO:0035965	Process	Cardiolipin acyl-chain remodeling	TAS
GO:0036148	Process	Phosphatidylglycerol acyl-chain remodeling	TAS
GO:0036149	Process	Phosphatidylinositol acyl-chain remodeling	TAS
GO:0036150	Process	Phosphatidylserine acyl-chain remodeling	TAS
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	IDA	16617059
GO:0036151	Process	Phosphatidylcholine acyl-chain remodeling	TAS
GO:0036152	Process	Phosphatidylethanolamine acyl-chain remodeling	TAS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0043032	Process	Positive regulation of macrophage activation	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046475	Process	Glycerophospholipid catabolic process	IBA	21873635
GO:0047498	Function	Calcium-dependent phospholipase A2 activity	IBA	21873635
GO:0047498	Function	Calcium-dependent phospholipase A2 activity	IDA	7794891, 9425121, 14709560, 16617059, 17472963
GO:0047498	Function	Calcium-dependent phospholipase A2 activity	IMP	18451993
GO:0047499	Function	Calcium-independent phospholipase A2 activity	IDA	12672805
GO:0050482	Process	Arachidonic acid secretion	IEA
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IDA	12672805
GO:0071236	Process	Cellular response to antibiotic	IEA
GO:0102545	Function	Phosphatidyl phospholipase B activity	IEA
GO:0102567	Function	Phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine)	IEA
GO:0102568	Function	Phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine)	IEA
GO:1902387	Function	Ceramide 1-phosphate binding	IDA	17472963

Other IDs

• MIM: 600522
• HGNC: 9035
• e!Ensembl: ENSG00000116711

Protein

• UniProt ID: P47712
• Protein name: Cytosolic phospholipase A2 (cPLA2) (Phospholipase A2 group IVA) [Includes: Phospholipase A2 (EC 3.1.1.4) (Phosphatidylcholine 2-acylhydrolase); Lysophospholipase (EC 3.1.1.5)]
• Protein function: Has primarily calcium-dependent phospholipase and lysophospholipase activities, with a major role in membrane lipid remodeling and biosynthesis of lipid mediators of the inflammatory response (PubMed:10358058, PubMed:14709560, PubMed:16617059, P
• PDB: 1BCI, 1CJY, 1RLW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	18 → 123	C2 domain	Domain
  PF01735	PLA2_B	190 → 675	Lysophospholipase catalytic domain	Family

• Sequence:

  MSFIDPYQHIIVEHQYSHKFTVVVLRATKVTKGAFGDMLDTPDPYVELFISTTPDSRKRT
  RHFNNDINPVWNETFEFILDPNQENVLEITLMDANYVMDETLGTATFTVSSMKVGEKKEV
  PFIFNQVTEMVLEMSLEVCSCPDLRFSMALCDQEKTFRQQRKEHIRESMKKLLGPKNSEG
  LHSARDVPVVAILGSGGGFRAMVGFSGVMKALYESGILDCATYVAGLSGSTWYMSTLYSH
  PDFPEKGPEEINEELMKNVSHNPLLLLTPQKVKRYVESLWKKKSSGQPVTFTDIFGMLIG
  ETLIHNRMNTTLSSLKEKVNTAQCPLPLFTCLHVKPDVSELMFADWVEFSPYEIGMAKYG
  TFMAPDLFGSKFFMGTVVKKYEENPLHFLMGVWGSAFSILFNRVLGVSGSQSRGSTMEEE
  LENITTKHIVSNDSSDSDDESHEPKGTENEDAGSDYQSDNQASWIHRMIMALVSDSALFN
  TREGRAGKVHNFMLGLNLNTSYPLSPLSDFATQDSFDDDELDAAVADPDEFERIYEPLDV
  KSKKIHVVDSGLTFNLPYPLILRPQRGVDLIISFDFSARPSDSSPPFKELLLAEKWAKMN
  KLPFPKIDPYVFDREGLKECYVFKPKNPDMEKDCPTIIHFVLANINFRKYRAPGVPRETE
  EEKEIADFDIFDDPESPFSTFNFQYPNQAFKRLHDLMHFNTLNNIDVIKEAMVESIEYRR
  QNPSRCSVSLSNVEARRFFNKEFLSKPKA

• Sequence length: 749

Pathways

KEGG:

Glycerophospholipid metabolism
Ether lipid metabolism
Arachidonic acid metabolism
Linoleic acid metabolism
alpha-Linolenic acid metabolism
Metabolic pathways
MAPK signaling pathway
Ras signaling pathway
Phospholipase D signaling pathway
Necroptosis
Vascular smooth muscle contraction
VEGF signaling pathway
Platelet activation
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Glutamatergic synapse
Serotonergic synapse
Long-term depression
Inflammatory mediator regulation of TRP channels
GnRH signaling pathway
Ovarian steroidogenesis
Oxytocin signaling pathway
Choline metabolism in cancer

Reactome:

phospho-PLA2 pathway
Acyl chain remodelling of PC
Acyl chain remodeling of CL
Acyl chain remodelling of PS
Acyl chain remodelling of PE
Acyl chain remodelling of PI
Acyl chain remodelling of PG
Hydrolysis of LPC
Synthesis of PA
Arachidonic acid metabolism
ADP signalling through P2Y purinoceptor 1
Platelet sensitization by LDL
COPI-independent Golgi-to-ER retrograde traffic

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	15816863
Asthma	Asthma, Occupational	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	27504716
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	15301788
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	21119660
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, rs10520699, rs11852999, 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	21119660
Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	rs121434634, rs121434635, rs1557895416, rs1557901999, rs1571392612
Dermatitis	Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	18287786
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
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	21119660
Platelet-type bleeding disorder	Blood Platelet Disorders	rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972, rs572295823, rs550565800, rs869320714, rs869320716, rs757188030, rs1057518838, rs1057518837, rs148051111, rs1555122100, rs1554724694, rs755459581, rs752492512, rs1592371840, rs747559032, rs778608263, rs148910227, rs3211901, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs551607784, rs774996406, rs200434813	18451993
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, 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	16181776, 19560328, 17629734, 18562188, 15999343

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis with dementia	Amyotrophic Lateral Sclerosis With Dementia		15816863
Bipolar disorder	Bipolar Disorder		20038946, 12895207
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		21119660
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26192919
Cryptogenic multifocal ulcerous stenosing enteritis	Cryptogenic multifocal ulcerous stenosing enteritis		23268370
Deficiency of phospholipase a2	PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF
Duodenal ulcer	Duodenal Ulcer		18451993
Gastric ulcer	Curling Ulcer, Gastric ulcer		18451993
Inborn errors of metabolism	Inborn Errors of Metabolism		18451993
Iron deficiency anemia	Iron deficiency anemia
Respiratory distress syndrome	Respiratory Distress Syndrome, Adult		10881173
Schizoaffective disorder	Schizoaffective Disorder		18562188
Ulcer of esophagus	Ulcer of esophagus