PTPN22 (protein tyrosine phosphatase non-receptor type 22)

Gene

• Entrez ID: 26191
• Gene name: Protein tyrosine phosphatase non-receptor type 22
• Gene symbol: PTPN22
• Synonyms: LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8
• Chromosome: 1
• Chromosome location: 1p13.2
• Summary: This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved i

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006484	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT023898	hsa-miR-1-3p	Microarray	18668037
MIRT053420	hsa-miR-624-3p	Microarray	23807165
MIRT736344	hsa-miR-665	Microarray, qRT-PCR	33430866
MIRT1275404	hsa-miR-4270	CLIP-seq
MIRT1275405	hsa-miR-4423-3p	CLIP-seq
MIRT1275406	hsa-miR-4441	CLIP-seq
MIRT1275407	hsa-miR-181a	CLIP-seq
MIRT1275408	hsa-miR-181b	CLIP-seq
MIRT1275409	hsa-miR-181c	CLIP-seq
MIRT1275410	hsa-miR-181d	CLIP-seq
MIRT1275411	hsa-miR-3671	CLIP-seq
MIRT1275412	hsa-miR-4262	CLIP-seq
MIRT1275413	hsa-miR-502-5p	CLIP-seq
MIRT1275414	hsa-miR-607	CLIP-seq
MIRT2439710	hsa-miR-1305	CLIP-seq
MIRT2439711	hsa-miR-4328	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002230	Process	Positive regulation of defense response to virus by host	IBA	21873635
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	10068674, 16461343, 18056643
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10068674, 11882361, 16461343, 19167335, 21719704, 23871208, 24658140, 25040622, 31980649
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	10940933
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	10068674, 10940933
GO:0005737	Component	Cytoplasm	TAS	20401454
GO:0005829	Component	Cytosol	TAS
GO:0006470	Process	Protein dephosphorylation	IDA	10068674
GO:0006470	Process	Protein dephosphorylation	TAS	21044313
GO:0006914	Process	Autophagy	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	10940933
GO:0010507	Process	Negative regulation of autophagy	IMP	23991106
GO:0010628	Process	Positive regulation of gene expression	IMP	23871208, 23991106
GO:0010629	Process	Negative regulation of gene expression	IMP	23991106
GO:0016791	Function	Phosphatase activity	IDA	23991106
GO:0017124	Function	SH3 domain binding	ISS
GO:0019900	Function	Kinase binding	ISS
GO:0030217	Process	T cell differentiation	IBA	21873635
GO:0030217	Process	T cell differentiation	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23871208
GO:0031663	Process	Lipopolysaccharide-mediated signaling pathway	IMP	23991106
GO:0032481	Process	Positive regulation of type I interferon production	IMP	23871208
GO:0032496	Process	Response to lipopolysaccharide	IMP	23871208
GO:0032715	Process	Negative regulation of interleukin-6 production	IMP	23991106
GO:0032717	Process	Negative regulation of interleukin-8 production	IMP	23991106
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IBA	21873635
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	23991106
GO:0032729	Process	Positive regulation of interferon-gamma production	IMP	23991106
GO:0032817	Process	Regulation of natural killer cell proliferation	IDA	20522204
GO:0034141	Process	Positive regulation of toll-like receptor 3 signaling pathway	IBA	21873635
GO:0034141	Process	Positive regulation of toll-like receptor 3 signaling pathway	IMP	23871208
GO:0034145	Process	Positive regulation of toll-like receptor 4 signaling pathway	IBA	21873635
GO:0034145	Process	Positive regulation of toll-like receptor 4 signaling pathway	IMP	23871208
GO:0034157	Process	Positive regulation of toll-like receptor 7 signaling pathway	IBA	21873635
GO:0034165	Process	Positive regulation of toll-like receptor 9 signaling pathway	IBA	21873635
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IBA	21873635
GO:0035644	Process	Phosphoanandamide dephosphorylation	ISS
GO:0043508	Process	Negative regulation of JUN kinase activity	IMP	23991106
GO:0045088	Process	Regulation of innate immune response	IC	20522204
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10068674
GO:0050852	Process	T cell receptor signaling pathway	IBA	21873635
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050855	Process	Regulation of B cell receptor signaling pathway	NAS	19265110
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IDA	18056643
GO:0050868	Process	Negative regulation of T cell activation	IBA	21873635
GO:0050868	Process	Negative regulation of T cell activation	IMP	18299186
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	23991106
GO:0070433	Process	Negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IBA	21873635
GO:0070433	Process	Negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	23991106
GO:0071225	Process	Cellular response to muramyl dipeptide	IDA	23991106
GO:0071663	Process	Positive regulation of granzyme B production	IBA	21873635
GO:1901222	Process	Regulation of NIK/NF-kappaB signaling	IBA	21873635
GO:1901222	Process	Regulation of NIK/NF-kappaB signaling	IMP	23991106
GO:1902523	Process	Positive regulation of protein K63-linked ubiquitination	IBA	21873635
GO:1902523	Process	Positive regulation of protein K63-linked ubiquitination	IMP	23871208
GO:1903753	Process	Negative regulation of p38MAPK cascade	IBA	21873635
GO:1903753	Process	Negative regulation of p38MAPK cascade	IMP	23991106
GO:2000566	Process	Positive regulation of CD8-positive, alpha-beta T cell proliferation	IBA	21873635

Other IDs

• MIM: 600716
• HGNC: 9652
• e!Ensembl: ENSG00000134242

Protein

• UniProt ID: Q9Y2R2
• Protein name: Tyrosine-protein phosphatase non-receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP) (Lymphoid phosphatase) (LyP) (PEST-domain phosphatase) (PEP)
• Protein function: Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules (PubMed:16461343, PubM
• PDB: 2P6X, 2QCJ, 2QCT, 3BRH, 3H2X, 3OLR, 3OMH, 4J51, 7AAM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00102	Y_phosphatase	54 → 288	Protein-tyrosine phosphatase	Domain

• Sequence:

  MDQREILQKFLDEAQSKKITKEEFANEFLKLKRQSTKYKADKTYPTTVAEKPKNIKKNRY
  KDILPYDYSRVELSLITSDEDSSYINANFIKGVYGPKAYIATQGPLSTTLLDFWRMIWEY
  SVLIIVMACMEYEMGKKKCERYWAEPGEMQLEFGPFSVSCEAEKRKSDYIIRTLKVKFNS
  ETRTIYQFHYKNWPDHDVPSSIDPILELIWDVRCYQEDDSVPICIHCSAGCGRTGVICAI
  DYTWMLLKDGIIPENFSVFSLIREMRTQRPSLVQTQEQYELVYNAVLELFKRQMDVIRDK
  HSGTESQAKHCIPEKNHTLQADSYSPNLPKSTTKAAKMMNQQRTKMEIKESSSFDFRTSE
  ISAKEELVLHPAKSSTSFDFLELNYSFDKNADTTMKWQTKAFPIVGEPLQKHQSLDLGSL
  LFEGCSNSKPVNAAGRYFNSKVPITRTKSTPFELIQQRETKEVDSKENFSYLESQPHDSC
  FVEMQAQKVMHVSSAELNYSLPYDSKHQIRNASNVKHHDSSALGVYSYIPLVENPYFSSW
  PPSGTSSKMSLDLPEKQDGTVFPSSLLPTSSTSLFSYYNSHDSLSLNSPTNISSLLNQES
  AVLATAPRIDDEIPPPLPVRTPESFIVVEEAGEFSPNVPKSLSSAVKVKIGTSLEWGGTS
  EPKKFDDSVILRPSKSVKLRSPKSELHQDRSSPPPPLPERTLESFFLADEDCMQAQSIET
  YSTSYPDTMENSTSSKQTLKTPGKSFTRSKSLKILRNMKKSICNSCPPNKPAESVQSNNS
  SSFLNFGFANRFSKPKGPRNPPPTWNI

• Sequence length: 807

Pathways

Reactome:

Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse

Associated diseases

Causal
Disease name	Disease term	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
Aortic aneurysm	Aortic Aneurysm, Abdominal	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Aortic dissection	Dissection of aorta	rs1553507345
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Arthritis	Arthritis, Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	21150878
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	30595370, 21341673, 21383967, 23055271, 30595370
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	31174203
Carcinoma	Basal cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	31174203
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928
Diabetes insipidus	Diabetes Insipidus	rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757, rs104894758, rs104894759, rs104894760, rs121964892, rs104894328, rs104894329, rs1565636541, rs104894334, rs104894330, rs104894331, rs104894335, rs104894332, rs104894333, rs104894337, rs1565637179, rs1565637189, rs28931580, rs104894338, rs104894339, rs104894341, rs796052096, rs886040961, rs370879515, rs1057518723, rs1064797077, rs1131690792, rs1557100304, rs772201159, rs149659001, rs770810694, rs1557100594, rs1603282342, rs749468605
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	21190368, 17632545, 30224649, 25936594, 19430480, 21980299, 17554260, 21829393, 15004560, 25751624, 30254083, 21190368, 30224649, 30224649, 21190368
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypertension	Hypertensive disease	rs13306026, rs13333226
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	22493691, 30595370, 27182965
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	21983784
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Myasthenia gravis	Myasthenia Gravis	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262	23055271
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Renal insufficiency	Renal Insufficiency	rs1596536873
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	30573655, 17804836, 30891314, 27193031, 17159887, 23143596, 24390342, 21156761, 20453842, 30224649, 19503088, 30423114, 24449572, 24532676, 19898480, 15208781, 22446963, 21190368
Systemic lupus erythematosus	Systemic lupus erythematosus	rs77571059, rs10954213, rs2070197, rs72556554, rs3219018, rs121912990, rs1575496354, rs7574865, rs1307379746, rs758750492, rs1575497576
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Alopecia areata	Alopecia Areata		25608926
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Anorexia	Anorexia
Autoimmune diabetes	Diabetes, Autoimmune, Latent Autoimmune Diabetes in Adults		21190368, 30224649, 30254083
Autoimmune thyroiditis	Autoimmune thyroiditis		22922229, 25936594
Cholangitis	Cholangitis, Sclerosing		26974007
Cranial nerve paralysis	Cranial nerve palsies
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26974007, 18587394, 21102463, 26192919
Brittle diabetes mellitus	Brittle diabetes		21190368, 30224649
Drachtman weinblatt sitarz syndrome	Congenital neurologic anomalies
Dwarfism	Dwarfism
Gangrene	Gangrene
Giant cell arteritis	Giant Cell Arteritis		23946333
Glossitis	Glossitis
Granulomatosis	Granulomatosis
Granulomatosis with polyangiitis	Granulomatosis with polyangiitis		22696186, 22508400
Graves disease	Graves Disease		21190368, 22922229
Hashimoto disease	Hashimoto Disease		22922229
Hodgkin disease	Hodgkin Disease		30194254
Hydronephrosis	Hydronephrosis
Hyperglycemia	Hyperglycemia
Immune system diseases	Immune System Diseases		21383967, 23055271
Impaired cognition	Impaired cognition
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye
Intestinal obstruction	Intestinal Obstruction
Iridocyclitis	Iridocyclitis
Ketosis	Ketosis
Leukopenia	Leukopenia
Lupus erythematosus	Lupus Erythematosus, Systemic		15273934, 22654485, 27193031, 30573655, 26502338, 19838195, 23943494, 18204446, 27399966, 23966601, 21190368, 23950893, 28714469
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy
Mental depression	Depressive disorder	rs587778876, rs587778877
Myositis	Myositis		30573655, 26362759
Nephritis	Nephritis
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		18204446, 21190368
Oligoarticular arthritis	Oligoarticular juvenile idiopathic arthritis
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Pancreatitis	Pancreatitis	rs61734659
Pauciarticular chronic arthritis	Juvenile pauciarticular chronic arthritis		23603761
Pericarditis	Pericarditis
Pleuritis	Pleurisy
Poliosis	Poliosis
Polyarthritis	Polyarthritis
Polymyositis	Polymyositis		26362759
Proptosis	Exophthalmos
Prostatitis	prostatitis
Psychosis	Psychotic Disorders
Ptosis	Blepharoptosis, Ptosis	rs139920573
Renal glomerular disease	Renal glomerular disease
Retinal diseases	Retinal Diseases
Rheumatoid factor-negative polyarticular arthritis	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Scleroderma	Systemic Scleroderma		30573655
Sensory neuropathy	Sensory neuropathy
Sinusitis	Sinusitis
Taussig-bing anomaly	Taussig-Bing Anomaly
Temporal arteritis	Temporal Arteritis		23946333
Ulcerative colitis	Ulcerative Colitis		26974007
Uveomeningoencephalitic syndrome	Uveomeningoencephalitic Syndrome		24816862
Vitiligo	Vitiligo		21326295, 22561518, 20410501, 27723757
Vogt-koyanagi-harada disease	Vogt-Koyanagi-Harada disease