CTLA4 (cytotoxic T-lymphocyte associated protein 4)

Gene

• Entrez ID: 1493
• Gene name: Cytotoxic T-lymphocyte associated protein 4
• Gene symbol: CTLA4
• Synonyms: ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12
• Chromosome: 2
• Chromosome location: 2q33.2
• Summary: This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, enco

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs231775	A>G,T	Benign, risk-factor	Coding sequence variant, missense variant
rs3087243	G>A	Risk-factor	Downstream transcript variant
rs606231417	C>T	Pathogenic	Stop gained, coding sequence variant
rs606231418	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231419	G>C	Pathogenic	Intron variant
rs606231420	C>A	Pathogenic	Stop gained, coding sequence variant
rs606231421	G>T	Pathogenic	Splice donor variant
rs886041906	G>A	Pathogenic	Stop gained, coding sequence variant
rs1357409506	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1553657378	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1553657387	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553657429	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553657430	C>A	Pathogenic	Coding sequence variant, missense variant
rs1559591695	G>-	Pathogenic	Coding sequence variant, stop gained
rs1581571813	CTGAACCTGGCTACCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1581571901	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1581573640	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1581573705	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1581573923	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004436	hsa-miR-155-5p	Microarray	19193853
MIRT049319	hsa-miR-92a-3p	CLASH	23622248
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	HITS-CLIP	23824327
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	PAR-CLIP	20371350
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	22012620
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT503698	hsa-miR-3924	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503698	hsa-miR-3924	HITS-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT503699	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	HITS-CLIP	23824327
MIRT503697	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT503698	hsa-miR-3924	PAR-CLIP	20371350
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503698	hsa-miR-3924	PAR-CLIP	21572407
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	22012620
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT503698	hsa-miR-3924	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503700	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503699	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503698	hsa-miR-3924	PAR-CLIP	23446348
MIRT503697	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT004436	hsa-miR-155-5p	qRT-PCR, Flow cytometry	37197667
MIRT914813	hsa-miR-3160-3p	CLIP-seq
MIRT914814	hsa-miR-4501	CLIP-seq
MIRT914815	hsa-miR-4504	CLIP-seq
MIRT914816	hsa-miR-4633-3p	CLIP-seq
MIRT914817	hsa-miR-488	CLIP-seq
MIRT914818	hsa-miR-494	CLIP-seq
MIRT914819	hsa-miR-542-3p	CLIP-seq
MIRT914820	hsa-miR-582-3p	CLIP-seq
MIRT1971388	hsa-miR-1248	CLIP-seq
MIRT1971389	hsa-miR-4778-3p	CLIP-seq
MIRT1971388	hsa-miR-1248	CLIP-seq
MIRT2206970	hsa-miR-3182	CLIP-seq
MIRT2206971	hsa-miR-370	CLIP-seq
MIRT2206972	hsa-miR-4297	CLIP-seq
MIRT2206973	hsa-miR-4330	CLIP-seq
MIRT2206974	hsa-miR-4659a-3p	CLIP-seq
MIRT2206975	hsa-miR-4659b-3p	CLIP-seq
MIRT1971389	hsa-miR-4778-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LEF1	Unknown	16297665
MSC	Activation	19561533

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0005515	Function	Protein binding	IPI	7807015, 9398332, 9813138, 11279501, 11279502, 20587542, 21982860, 25241761, 32296183
GO:0005794	Component	Golgi apparatus	IDA	15814706
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IMP	28484017
GO:0006955	Process	Immune response	TAS	3220103
GO:0006974	Process	Cellular response to DNA damage stimulus	IMP	17875758
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IDA	18641304
GO:0030889	Process	Negative regulation of B cell proliferation	IMP	17875758
GO:0031295	Process	T cell costimulation	TAS
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	17875758
GO:0045334	Component	Clathrin-coated endocytic vesicle	IDA	15814706
GO:0045589	Process	Regulation of regulatory T cell differentiation	TAS
GO:0045590	Process	Negative regulation of regulatory T cell differentiation	IBA	21873635
GO:0045590	Process	Negative regulation of regulatory T cell differentiation	IDA	18641304
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15814706
GO:0050777	Process	Negative regulation of immune response	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA	21873635
GO:0050853	Process	B cell receptor signaling pathway	IBA	21873635
GO:0050853	Process	B cell receptor signaling pathway	IMP	17875758
GO:0098636	Component	Protein complex involved in cell adhesion	IDA	7544393

Other IDs

• MIM: 123890
• HGNC: 2505
• e!Ensembl: ENSG00000163599

Protein

• UniProt ID: P16410
• Protein name: Cytotoxic T-lymphocyte protein 4 (Cytotoxic T-lymphocyte-associated antigen 4) (CTLA-4) (CD antigen CD152)
• Protein function: Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28. {ECO:0
• PDB: 1AH1, 1H6E, 1I85, 1I8L, 2X44, 3BX7, 3OSK, 5GGV, 5TRU, 5XJ3, 6RP8, 6RPJ, 6RQM, 6XY2, 7CIO, 7DV4, 7ELX, 7SU0, 7SU1, 8GAB, 8HIT, 9DQ3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	41 → 152	Immunoglobulin V-set domain	Domain

• Sequence:

  MACLGFQRHKAQLNLATRTWPCTLLFFLLFIPVFCKAMHVAQPAVVLASSRGIASFVCEY
  ASPGKATEVRVTVLRQADSQVTEVCAATYMMGNELTFLDDSICTGTSSGNQVNLTIQGLR
  AMDTGLYICKVELMYPPPYYLGIGNGTQIYVIDPEPCPDSDFLLWILAAVSSGLFFYSFL
  LTAVSLSKMLKKRSPLTTGVYVKMPPTEPECEKQFQPYFIPIN

• Sequence length: 223

Pathways

KEGG:

Cell adhesion molecules
T cell receptor signaling pathway
Autoimmune thyroid disease
Rheumatoid arthritis

Reactome:

CTLA4 inhibitory signaling
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)

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
Arthritis	Arthritis, Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Autoimmune lymphoproliferative disorder	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365, rs121913085, rs606231366, rs121913086, rs121913237, rs121913535, rs398122958, rs606231296, rs886039524, rs121913527, rs1554851718, rs1295207359, rs1564699214, rs1564686301, rs1564696849, rs1564691414, rs747862347, rs1589482683, rs1589488463, rs1589488640, rs1589488494, rs1589465172, rs1589478691, rs1589485636, rs778993919, rs1842954041, rs1848315820, rs1207744817, rs1848558128, rs1848671126, rs1848675068, rs1848019699
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	25329329
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, INSULIN-DEPENDENT, 12	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
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
Lymphoma	Lymphoma, T-Cell, Cutaneous	rs11540652, rs1592119138, rs1592123162, rs1599367044	26258847
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	21802280
Myasthenia gravis	Adult-onset 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
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
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
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	23143596, 20453842
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	23666060, 18848621, 12007590
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	25329329
Sezary syndrome	Sezary Syndrome	rs587776632	26258847
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, 20596022
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Bipolar disorder	Bipolar Disorder		21040781, 14678452
Celiac disease	Celiac Disease	rs2305764, rs35218876
Cranial nerve paralysis	Cranial nerve palsies
Ctla4 deficiency	CTLA4 Haploinsufficiency, CTLA4 deficiency		25213377, 25329329, 29077208, 25213377
Ectropion	Ectropion
Eczema	Eczema
Exfoliative dermatitis	Exfoliative dermatitis
Gangrene	Gangrene
Graft-vs-host disease	Graft-vs-Host Disease		14642129
Granulomatosis	Granulomatosis
Granulomatosis with polyangiitis	Granulomatosis with polyangiitis		22508400
Granulomatous slack skin	Granulomatous Slack Skin		26258847
Graves disease	Graves Disease		19731979, 21841780, 23104008
Hashimoto disease	Hashimoto Disease
Hydronephrosis	Hydronephrosis
Hyperkeratosis	Hyperkeratosis
Hypogammaglobulinemia	Hypogammaglobulinemia		25329329
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye
Intestinal diseases	Intestinal Diseases		25329329
Intestinal obstruction	Intestinal Obstruction
Juvenile arthritis	Juvenile psoriatic arthritis		19565504
Leukopenia	Leukopenia
Lupus erythematosus	Lupus Erythematosus, Systemic		23922195
Lymphopenia	Lymphopenia
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	11555351, 21040781
Nail dystrophy	Dystrophia unguium
Nephritis	Nephritis
Nervous system diseases	Peripheral Nervous System Diseases		21228734
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease
Oral submucous fibrosis	Oral Submucous Fibrosis		16311067
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Pancreatitis	Pancreatitis	rs61734659
Pericarditis	Pericarditis
Pleuritis	Pleurisy
Poikiloderma	Poikiloderma
Seronegative polyarthritis	Polyarthritis, Juvenile, Rheumatoid Factor Negative		19565504
Polyarthritis, rheumatoid factor positive	Polyarthritis, Juvenile, Rheumatoid Factor Positive		19565504
Proptosis	Exophthalmos
Prostatitis	prostatitis
Psychosis	Psychotic Disorders
Renal glomerular disease	Renal glomerular disease
Retinal diseases	Retinal Diseases
Sensory neuropathy	Sensory neuropathy
Sinusitis	Sinusitis
Skin neoplasms	Skin Neoplasms
Still disease	Juvenile-Onset Still Disease		19565504
T-cell lymphoma/leukemia	Adult T-Cell Lymphoma/Leukemia		26437031