FCGR2A (Fc gamma receptor IIa)

Gene

• Entrez ID: 2212
• Gene name: Fc gamma receptor IIa
• Gene symbol: FCGR2A
• Synonyms (NCBI Gene): CD32, CD32A, CDw32, FCG2, FCGR2, FCGR2A1, FcGR, FcgammaRIIa, IGFR2
• Chromosome: 1
• Chromosome location: 1q23.3
• Summary: This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801274	A>C,G	Benign, drug-response, risk-factor	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT711491	hsa-miR-4275	HITS-CLIP	19536157
MIRT711490	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT711489	hsa-miR-1305	HITS-CLIP	19536157
MIRT711491	hsa-miR-4275	HITS-CLIP	19536157
MIRT711490	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT711489	hsa-miR-1305	HITS-CLIP	19536157
MIRT711491	hsa-miR-4275	HITS-CLIP	19536157
MIRT711490	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT711489	hsa-miR-1305	HITS-CLIP	19536157
MIRT531614	hsa-miR-512-5p	PAR-CLIP	22012620
MIRT531613	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT531612	hsa-miR-6777-3p	PAR-CLIP	22012620
MIRT531611	hsa-miR-6761-5p	PAR-CLIP	22012620
MIRT711491	hsa-miR-4275	HITS-CLIP	19536157
MIRT711490	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT711489	hsa-miR-1305	HITS-CLIP	19536157
MIRT711491	hsa-miR-4275	HITS-CLIP	19536157
MIRT711490	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT711489	hsa-miR-1305	HITS-CLIP	19536157
MIRT711491	hsa-miR-4275	HITS-CLIP	19536157
MIRT711490	hsa-miR-29b-2-5p	HITS-CLIP	19536157
MIRT711489	hsa-miR-1305	HITS-CLIP	19536157
MIRT531614	hsa-miR-512-5p	PAR-CLIP	22012620
MIRT531613	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT531612	hsa-miR-6777-3p	PAR-CLIP	22012620
MIRT531611	hsa-miR-6761-5p	PAR-CLIP	22012620
MIRT993844	hsa-miR-103a	CLIP-seq
MIRT993845	hsa-miR-107	CLIP-seq
MIRT993846	hsa-miR-1184	CLIP-seq
MIRT993847	hsa-miR-1273g	CLIP-seq
MIRT993848	hsa-miR-188-5p	CLIP-seq
MIRT993849	hsa-miR-324-5p	CLIP-seq
MIRT993850	hsa-miR-4418	CLIP-seq
MIRT993851	hsa-miR-509-3-5p	CLIP-seq
MIRT993852	hsa-miR-509-5p	CLIP-seq
MIRT993853	hsa-miR-3192	CLIP-seq
MIRT993854	hsa-miR-3689a-3p	CLIP-seq
MIRT993855	hsa-miR-3689c	CLIP-seq
MIRT993856	hsa-miR-3929	CLIP-seq
MIRT993857	hsa-miR-4419b	CLIP-seq
MIRT993858	hsa-miR-4478	CLIP-seq
MIRT993859	hsa-miR-4728-5p	CLIP-seq
MIRT993860	hsa-miR-485-5p	CLIP-seq
MIRT1994741	hsa-miR-10a	CLIP-seq
MIRT1994742	hsa-miR-10b	CLIP-seq
MIRT1994743	hsa-miR-339-5p	CLIP-seq
MIRT1994744	hsa-miR-4421	CLIP-seq
MIRT1994745	hsa-miR-4684-5p	CLIP-seq
MIRT993860	hsa-miR-485-5p	CLIP-seq
MIRT1994746	hsa-miR-593	CLIP-seq
MIRT2228887	hsa-miR-194	CLIP-seq
MIRT2228888	hsa-miR-29a	CLIP-seq
MIRT2228889	hsa-miR-29b	CLIP-seq
MIRT2228890	hsa-miR-29c	CLIP-seq
MIRT2228891	hsa-miR-4662a-3p	CLIP-seq
MIRT2228892	hsa-miR-4793-3p	CLIP-seq
MIRT2228893	hsa-miR-508-5p	CLIP-seq
MIRT2228894	hsa-miR-555	CLIP-seq
MIRT2228895	hsa-miR-661	CLIP-seq
MIRT2228896	hsa-miR-766	CLIP-seq
MIRT1994741	hsa-miR-10a	CLIP-seq
MIRT1994742	hsa-miR-10b	CLIP-seq
MIRT1994743	hsa-miR-339-5p	CLIP-seq
MIRT1994744	hsa-miR-4421	CLIP-seq
MIRT1994745	hsa-miR-4684-5p	CLIP-seq
MIRT1994746	hsa-miR-593	CLIP-seq
MIRT1994741	hsa-miR-10a	CLIP-seq
MIRT1994742	hsa-miR-10b	CLIP-seq
MIRT1994743	hsa-miR-339-5p	CLIP-seq
MIRT1994744	hsa-miR-4421	CLIP-seq
MIRT1994745	hsa-miR-4684-5p	CLIP-seq
MIRT1994746	hsa-miR-593	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007166	Process	Cell surface receptor signaling pathway	IBA	21873635
GO:0019864	Function	IgG binding	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0050776	Process	Regulation of immune response	IBA	21873635

Other IDs

• MIM: 146790
• HGNC: 3616
• e!Ensembl: ENSG00000143226

Protein

• UniProt ID: P12318
• Protein name: Low affinity immunoglobulin gamma Fc region receptor II-a (IgG Fc receptor II-a) (CDw32) (Fc-gamma RII-a) (Fc-gamma-RIIa) (FcRII-a) (CD antigen CD32)
• Protein function: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.
• PDB: 1FCG, 1H9V, 3D5O, 3RY4, 3RY5, 3RY6, 8CHA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13895	Ig_2	40 → 119	Immunoglobulin domain	Domain
  PF13895	Ig_2	123 → 205	Immunoglobulin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found on monocytes, neutrophils and eosinophil platelets.
• Sequence:

  MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTL
  TCQGARSPESDSIQWFHNGNLIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVL
  SEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGKSQKFSHLDPTFSIPQANHS
  HSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIY
  CRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDD
  KNIYLTLPPNDHVNSNN

• Sequence length: 317

Pathways

KEGG:

Phagosome
Osteoclast differentiation
Platelet activation
Neutrophil extracellular trap formation
Fc gamma R-mediated phagocytosis
Pathogenic Escherichia coli infection
Yersinia infection
Leishmaniasis
Staphylococcus aureus infection
Tuberculosis
Coronavirus disease - COVID-19
Systemic lupus erythematosus

Reactome:

FCGR activation
Regulation of actin dynamics for phagocytic cup formation
Role of phospholipids in phagocytosis
Neutrophil degranulation
FCGR3A-mediated IL10 synthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Cystic fibrosis	Cystic Fibrosis	rs113993960, rs121908745, rs77101217, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs121909008, rs77010898, rs121909009, rs121909010, rs387906360, rs387906361, rs80034486, rs74767530, rs387906362, rs121909011, rs121908776, rs121909012, rs75961395, rs79850223, rs121908804, rs387906363, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs121909017, rs121909018, rs121909019, rs143570767, rs387906366, rs78194216, rs75528968, rs75039782, rs77902683, rs121908748, rs387906367, rs121909023, rs141158996, rs121908766, rs387906369, rs387906370, rs121909025, rs121909026, rs121908751, rs121908750, rs121909028, rs746418935, rs79282516, rs387906371, rs77409459, rs78802634, rs121909031, rs76554633, rs121909033, rs75115087, rs79633941, rs121908773, rs121909036, rs121909037, rs79635528, rs121908761, rs121908764, rs387906375, rs75389940, rs121909042, rs121908775, rs387906376, rs387906377, rs387906378, rs121909043, rs1797973431, rs387906379, rs121908784, rs121908769, rs121909045, rs387906380, rs267606723, rs121909047, rs75096551, rs193922498, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs193922504, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922509, rs193922510, rs386134230, rs193922514, rs121908797, rs193922515, rs144055758, rs76151804, rs78984783, rs77035409, rs193922519, rs193922520, rs193922521, rs193922523, rs193922524, rs193922526, rs193922528, rs193922532, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs77284892, rs121908779, rs79660178, rs36210737, rs121908749, rs121908763, rs121908792, rs121908794, rs121908801, rs121908796, rs121908772, rs121908768, rs79031340, rs78909279, rs397508136, rs397508137, rs397508138, rs397508139, rs397508140, rs397508141, rs397508144, rs121908774, rs397508146, rs397508148, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508169, rs397508171, rs397508173, rs397508174, rs397508175, rs397508176, rs397508177, rs397508178, rs397508179, rs397508181, rs397508182, rs397508183, rs397508184, rs397508186, rs1800074, rs397508190, rs397508192, rs397508195, rs397508196, rs151020603, rs397508197, rs397508198, rs397508200, rs397508201, rs397508203, rs397508204, rs397508205, rs397508207, rs397508208, rs397508209, rs397508211, rs397508214, rs397508216, rs397508217, rs397508222, rs397508223, rs397508225, rs397508227, rs397508230, rs397508231, rs397508233, rs397508243, rs121908800, rs397508244, rs397508246, rs397508247, rs397508249, rs397508250, rs397508251, rs397508252, rs397508253, rs397508257, rs397508258, rs397508261, rs397508263, rs397508266, rs397508267, rs397508269, rs397508272, rs397508273, rs397508274, rs397508276, rs397508277, rs397508278, rs397508279, rs397508283, rs397508285, rs397508289, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs397508302, rs397508303, rs397508306, rs397508307, rs397508308, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs397508320, rs397508323, rs121908780, rs121908809, rs397508324, rs397508325, rs397508327, rs397508328, rs397508331, rs397508333, rs397508334, rs397508336, rs397508339, rs397508341, rs121908760, rs397508343, rs397508344, rs397508345, rs397508346, rs397508348, rs397508350, rs397508351, rs397508353, rs397508354, rs397508356, rs121908810, rs397508364, rs397508365, rs397508360, rs397508368, rs374946172, rs397508371, rs145449046, rs397508372, rs397508376, rs397508377, rs397508378, rs397508379, rs397508380, rs397508382, rs397508387, rs397508388, rs397508389, rs397508391, rs397508393, rs397508394, rs397508399, rs397508400, rs397508401, rs397508412, rs397508413, rs397508416, rs121908791, rs121909034, rs149790377, rs397508426, rs397508431, rs397508433, rs397508435, rs397508440, rs397508441, rs397508445, rs397508447, rs397508451, rs397508453, rs397508458, rs397508461, rs397508462, rs397508464, rs397508466, rs397508467, rs397508470, rs1562914028, rs397508472, rs397508475, rs397508476, rs397508477, rs397508479, rs397508480, rs397508482, rs397508484, rs121908781, rs397508486, rs397508490, rs1554392027, rs397508493, rs397508496, rs397508498, rs397508499, rs397508500, rs397508503, rs397508505, rs397508506, rs397508509, rs397508510, rs142394380, rs397508514, rs397508516, rs78769542, rs397508517, rs397508518, rs139304906, rs121908798, rs397508524, rs397508525, rs397508528, rs1554392248, rs397508529, rs397508531, rs397508532, rs397508533, rs397508534, rs397508535, rs397508536, rs397508538, rs146521846, rs397508547, rs397508549, rs397508552, rs397508555, rs397508557, rs397508558, rs397508559, rs397508560, rs397508561, rs139729994, rs397508570, rs397508571, rs397508572, rs397508573, rs397508575, rs77834169, rs397508578, rs397508579, rs397508580, rs397508581, rs397508582, rs397508587, rs121908765, rs397508588, rs397508589, rs35396083, rs397508595, rs144781064, rs1554395323, rs397508596, rs397508598, rs397508599, rs397508600, rs397508602, rs397508604, rs397508609, rs397508612, rs397508613, rs397508614, rs397508615, rs397508616, rs397508620, rs146795445, rs397508624, rs387906373, rs397508630, rs121908808, rs397508633, rs397508635, rs397508636, rs397508637, rs397508643, rs397508645, rs397508650, rs397508653, rs397508654, rs397508657, rs397508658, rs397508662, rs397508667, rs397508668, rs397508671, rs397508672, rs397508673, rs397508675, rs397508678, rs397508680, rs397508684, rs397508685, rs397508686, rs397508689, rs76371115, rs397508695, rs397508696, rs397508701, rs397508702, rs372227120, rs397508706, rs397508707, rs397508710, rs397508712, rs397508714, rs397508715, rs397508716, rs374705585, rs121908770, rs397508718, rs397508720, rs397508721, rs397508729, rs397508731, rs397508732, rs397508734, rs397508735, rs397508736, rs397508737, rs397508740, rs397508746, rs121908771, rs397508750, rs1562882675, rs397508758, rs397508759, rs397508760, rs397508761, rs78440224, rs397508762, rs121908793, rs121908802, rs397508764, rs397508767, rs397508768, rs121908803, rs397508771, rs397508775, rs397508777, rs397508778, rs397508781, rs397508782, rs397508783, rs397508784, rs397508791, rs397508794, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508815, rs397508816, rs397508820, rs397508824, rs397515498, rs672601317, rs672601316, rs672601315, rs672601314, rs786204693, rs397508189, rs755416052, rs786205658, rs797045160, rs1805177, rs797045161, rs387906359, rs797045159, rs3034796, rs886042527, rs1057516232, rs1057517342, rs1057516646, rs1057516619, rs1057516387, rs1057516236, rs1057517276, rs1057517068, rs1057517032, rs1057516415, rs780546355, rs1057516970, rs1057516609, rs121908782, rs1057517404, rs754392413, rs1057516457, rs397508683, rs1800135, rs397508709, rs1060503164, rs775663783, rs1554391033, rs1554391489, rs763843966, rs797045156, rs397508294, rs1554379887, rs1554380497, rs397508163, rs121908785, rs1235397597, rs121909005, rs797045162, rs397508355, rs397508405, rs768963919, rs1554392800, rs1554392801, rs1554396393, rs375661578, rs397508669, rs1554397527, rs397508693, rs1554381605, rs766063304, rs773739166, rs1554379899, rs141482808, rs1554380789, rs1290078234, rs1554396384, rs756219310, rs1554390958, rs1554389836, rs1554398510, rs1801178, rs1554390859, rs1554379846, rs1554380311, rs1199914684, rs367934560, rs1554389241, rs762844777, rs750559671, rs1554381596, rs1554388867, rs1554389346, rs397508386, rs1554380465, rs200955612, rs1554397593, rs1554397769, rs1554380828, rs533959068, rs1554384343, rs1351058559, rs1554389062, rs1554390864, rs1554392282, rs1554392798, rs1554397750, rs984281283, rs1554389486, rs1554391454, rs1554391491, rs1554397497, rs758921701, rs1562895066, rs1562928927, rs1330431481, rs1317756653, rs1562876396, rs1562882755, rs397508256, rs1562884046, rs397508522, rs1562889382, rs1562890223, rs193922730, rs1562891084, rs1204521684, rs1562892359, rs1562892387, rs1562892823, rs1562892895, rs1562898465, rs1562898471, rs1562898496, rs1562898510, rs1562907260, rs1562907873, rs397508381, rs1562911661, rs1562911739, rs1562914082, rs1562914107, rs1562914200, rs1562914641, rs779177972, rs1562914838, rs1470125842, rs397508544, rs1562919371, rs1562923164, rs397508601, rs193922732, rs397508661, rs1562928997, rs1562929633, rs1562929636, rs1562895104, rs1562907232, rs1562907896, rs1562908997, rs1562894926, rs750558115, rs1562876459, rs1562895128, rs756206533, rs1481564133, rs1562914072, rs1562923253, rs1562889180, rs1562894928, rs1562906265, rs1562908889, rs1562928854, rs1584789514, rs1584785196, rs1584793546, rs1301983423, rs1408746819, rs1584787119, rs1584784850, rs1584786454, rs1584789226, rs1584793633, rs1584848754, rs397508404, rs1584789180, rs1584787782, rs1584798316, rs397508699, rs1584850283, rs1299250440, rs377447726, rs1584776437, rs1584812217, rs1584837090, rs1584764596, rs1584785072, rs1584786892, rs1584787657, rs1584787716, rs397508811, rs1584789267, rs1584793451, rs1584810167, rs1381239923, rs1584812361, rs1584812425, rs1584812646, rs1584812696, rs1584812777, rs1584817344, rs1584819340, rs1584822237, rs1584830149, rs1584830154, rs1584837173, rs397508666, rs1584848901, rs1584790302, rs1584821306, rs1584824301, rs1584793368, rs1798858347, rs1792366769, rs1792456313, rs1798467599
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	23128233, 26192919, 28067908
Meconium ileus	Meconium ileus	rs587776905, rs730880325, rs587784573
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	24532676, 23143596, 20453842

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			ClinVar
Crohn disease	Crohn Disease		26192919	ClinVar
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Ankylosing Spondylitis	Ankylosing Spondylitis			GWAS
Crohn Disease	Crohn Disease			GWAS
Diabetes	Diabetes			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Associate	18025239
Acute Disease	Associate	15744239
Aggressive Periodontitis	Associate	22167032
Altitude Sickness	Inhibit	33393628
Alzheimer Disease	Associate	31666081, 33081847, 34602489, 35954209
Angina Pectoris	Associate	22559288
Angina Unstable	Associate	22559288
Arthritis	Associate	16542359, 24896836
Arthritis Juvenile	Associate	12757620
Arthritis Rheumatoid	Associate	10193433, 15593228, 17355628, 19898481, 23121884, 24802006, 25392121, 25848939, 31378115, 32508836, 39351328, 40081680
Asthma	Associate	33602227, 36575422
Atherosclerosis	Associate	30638300
Autoimmune Diseases	Associate	10675363, 17523948, 18204446, 24916518, 29977032, 34970970, 9674755, 9854050
Autoimmune Diseases of the Nervous System	Associate	8556514
Bacterial Infections	Associate	22252124
Biliary Atresia	Associate	34646264
Blister	Associate	32235430
Blood Platelet Disorders	Stimulate	21848694
Blood Platelet Disorders	Associate	29297721
Breast Neoplasms	Associate	23379433, 26450443, 27812689, 28952147, 29879453
Carcinoma Adenosquamous	Associate	34326696
Carcinoma Hepatocellular	Associate	30692520, 35812416
Carcinoma Renal Cell	Associate	36930102
Cardiovascular Diseases	Associate	33441605
Carotid Artery Diseases	Associate	36316672
Carotid Stenosis	Associate	30638300
CD59 Deficiency	Associate	28427365, 30638300, 34970970
Cerebral Infarction	Associate	37268894
Cerebrovascular Disorders	Associate	30638300
Chronic Disease	Associate	20929558
Clear cell metastatic renal cell carcinoma	Associate	27742794
Colitis Ulcerative	Associate	20228799, 26826017, 31480888, 33132321
Colorectal Neoplasms	Associate	22117530, 22486600, 24884501, 30318772
Common Variable Immunodeficiency	Associate	17900300
Communicable Diseases	Associate	10513795, 11576225, 16356189, 18025239, 24916518
Communication Disorders	Associate	19494086
Coronary Artery Disease	Associate	22559288, 27893416, 38335505
Coronavirus Infections	Associate	33766078
COVID 19	Associate	16185324, 17913858, 33833618, 34193364, 35149195, 35309299, 35501302, 36575422, 37390087, 37896870, 38602517
COVID 19 post intensive care syndrome	Associate	34752677
Crohn Disease	Associate	31480888
Cryoglobulinemia Familial Mixed	Associate	21538321
Cystic Fibrosis	Associate	10853863
Death	Associate	35149195, 38335505
Degloving Injuries	Associate	29025244
Demyelinating Diseases	Associate	23452918
Diabetes Mellitus	Associate	16421008
Diabetes Mellitus Type 2	Associate	16421008
Diabetic Angiopathies	Associate	23141924, 35309299
Diabetic Retinopathy	Associate	37773794
Disease	Associate	8556514, 9427722
Disease Progression	Associate	37898408
Drug Hypersensitivity	Associate	23141924
Drug Related Side Effects and Adverse Reactions	Associate	26801900, 27938998
Endocarditis	Associate	21044892
Erythema Ab Igne	Associate	14634123
Esophageal Neoplasms	Associate	32356485
Esophageal Squamous Cell Carcinoma	Associate	32356485
Gastrointestinal Diseases	Associate	9854050
Giant Cell Arteritis	Associate	16846526
Glioma	Associate	33875619
Glomerulonephritis IGA	Associate	23593433
Graft vs Host Disease	Associate	15744239
Granulomatosis with Polyangiitis	Associate	10513795
Granulomatous Disease Chronic	Associate	9854050
Graves Disease	Inhibit	31033004
Head and Neck Neoplasms	Associate	34285919
Heart Diseases	Associate	37268894
Hemangioendothelioma	Associate	38206210
Hemochromatosis	Associate	20929558, 24916518
Hemophilia A	Associate	24916518
Heparin Cofactor II Deficiency	Associate	21848694, 25680756, 37102605, 9674755, 9716579
Heparin Cofactor II Deficiency	Stimulate	34189574
Hepatitis Autoimmune	Associate	37108648
HIV Infections	Associate	12390315, 18025239, 25100508, 29915583, 30013105, 30053296, 31239514, 35616530
HIV Infections	Stimulate	28698276
HIV Seropositivity	Associate	31732191
Huntington Disease	Associate	27742794
Idiopathic Pulmonary Fibrosis	Associate	20929558, 21309737
Ige Responsiveness Atopic	Inhibit	24586589
Ige Responsiveness Atopic	Associate	24586589
Immune System Diseases	Associate	19898481, 26996483, 8556514
Immuno hemolytic anemia	Associate	12871511
Infections	Associate	12393699, 29780387
Inflammation	Associate	12571856, 12757620, 20929558, 25392121, 26448050, 30193587, 30515163, 32434445, 32508836, 34970970, 40446056, 9496155
Inflammation	Stimulate	16167082
Inflammatory Bowel Diseases	Associate	31480888
Insulin Like Growth Factor I Resistance To	Associate	32576231
Irritable Bowel Syndrome	Associate	37648784
Ischemic Attack Transient	Associate	23141924
Kidney Diseases	Associate	12571856, 31509231, 9350662
Leukemia Erythroblastic Acute	Associate	1834702
Leukemia Lymphocytic Chronic B Cell	Associate	30655272, 34912339
Leukemia Myeloid Acute	Associate	15744239, 29720577
Lupus Erythematosus Systemic	Associate	10513796, 11145038, 11229467, 12176802, 12209518, 12960360, 15194589, 15535834, 16968408, 18204446, 1834376, 21719445, 21792837, 22559288, 24896836, 30638300, 32576231, 36371989, 36706536, 37029410, 8636449
Lupus Nephritis	Associate	11229467, 24896836, 31509231, 8636449, 9350662, 9496155
Lymphoma	Associate	15217834, 31919622
Lymphoma	Inhibit	21250972
Lymphoma B Cell	Associate	26448050, 31254446
Lymphoma Follicular	Associate	19672774, 34323957
malar rash	Associate	21719445
Malaria	Associate	24117665, 28427365
Malaria Cerebral	Associate	31666081
Malocclusion Angle Class III	Associate	12571856
Melioidosis	Associate	33496230
Meniere Disease	Associate	21208440
Mouth Diseases	Associate	29025244
Mucocutaneous Lymph Node Syndrome	Associate	22565545, 25101798, 25645453, 26089602, 27893416, 28886140, 30949161, 33772158, 34193364, 36536067, 39359734
Multiple Myeloma	Associate	25510242
Mycoses	Associate	22252124
Myocardial Infarction	Associate	38335505
Neoplasm Metastasis	Associate	31992246, 34285919
Neoplasms	Stimulate	16133109
Neoplasms	Associate	23965133, 24884501, 26739818, 27742794, 30692520, 31919622, 33955587, 34285919, 36930102
Nephritis	Associate	10513796, 11229467, 31509231, 9496155
Pemphigoid Bullous	Associate	29025244
Pemphigus	Associate	29025244
Peri Implantitis	Associate	38597081
Periodontitis	Associate	36316672
Pneumococcal Infections	Associate	19494086
Pneumonia	Associate	21737555
Pneumonia Pneumocystis	Associate	18025239
Proteinuria	Associate	37029410
Psoriasis	Associate	26613086
Pulmonary Alveolar Proteinosis	Associate	12896880
Pulmonary Disease Chronic Obstructive	Associate	39780163
Pulmonary Fibrosis	Associate	20929558
Purpura Thrombocytopenic Idiopathic	Associate	12492589, 22775462, 23032993, 27281793, 28942727, 9674755
Respiratory Distress Syndrome	Associate	23239500
Respiratory Tract Infections	Associate	33766078
Retroperitoneal Fibrosis	Associate	30299252
Sarcoidosis	Associate	37174624
Sarcoidosis Pulmonary	Associate	37174624
Sarcopenia	Associate	40081680
Schizophrenia	Associate	39351328
Seizures	Associate	18372357, 38166692
Sepsis	Associate	19494086
Severe Acute Respiratory Syndrome	Associate	16185324, 21818580, 28427365, 33766078
Severe combined immunodeficiency due to adenosine deaminase deficiency	Associate	36609675
Sjogren's Syndrome	Associate	24097067
Skin Diseases	Associate	27938998
Spondylitis Ankylosing	Associate	22494514
Squamous Cell Carcinoma of Head and Neck	Associate	27217441, 34285919
Still's Disease Adult Onset	Associate	28106835
Stroke	Associate	23141924
Stroke	Stimulate	38335505
Takayasu Arteritis	Associate	26996483, 27769046, 28756073
Thrombasthenia	Associate	19197137
Thrombocytopenia	Associate	12871511, 19197137, 9674755, 9716579
Thrombosis	Associate	16421008, 19197137, 23141924, 25680756, 30692520, 34753174, 9716579
Tuberculosis	Associate	37174624
Vasculitis	Associate	37331172
Venous Thrombosis	Associate	30299252