GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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AIRE (autoimmune regulator)

Gene

326

Autoimmune regulator

AIRE

AIRE1, APECED, APS1, APSI, PGA1

21q22.3

This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negat

Show/Hide all(82)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41277546	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72650680	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs74162061	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121434254	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121434255	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434256	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121434257	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121434258	A>G,T	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs138066507	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs138489664	G>A,C,T	Likely-pathogenic	Splice donor variant
rs140630532	C>T	Pathogenic	Missense variant, coding sequence variant
rs142788946	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150634562	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs179363878	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs179363880	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs179363882	A>G	Pathogenic	Missense variant, coding sequence variant
rs179363886	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs179363889	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs193922417	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922418	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs199612115	G>T	Likely-pathogenic	Splice donor variant
rs201650973	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267606642	T>G	Pathogenic	Missense variant, coding sequence variant
rs386833672	->A	Pathogenic	Frameshift variant, coding sequence variant
rs386833673	A>T	Likely-pathogenic	Terminator codon variant, stop lost
rs386833674	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs386833675	CTGTCCCCTCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906293	->C	Pathogenic	Frameshift variant, coding sequence variant
rs387906294	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906295	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs746101086	->C	Pathogenic	Frameshift variant, coding sequence variant
rs750764323	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs760280615	T>C	Likely-pathogenic	Splice donor variant
rs763695515	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764819068	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs764878471	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs769305771	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs780906602	G>A	Pathogenic	Splice acceptor variant
rs786204478	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs786204567	->C	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs886041123	CTGA>TGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041124	->CAGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041293	GTG>CT	Pathogenic	Splice donor variant, intron variant
rs940485051	->AGAGCAGCAGCGC	Pathogenic	Frameshift variant, coding sequence variant
rs996389327	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1022025101	G>A	Likely-pathogenic	Splice donor variant
rs1032171597	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1057516225	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516272	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516314	AG>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516411	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516499	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516811	->T	Likely-pathogenic	Splice donor variant
rs1057516985	T>A	Likely-pathogenic	Splice donor variant
rs1057517011	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517072	CGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517241	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1057517254	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517268	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517428	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517878	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691636	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1162316051	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1248788128	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1488613451	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555871777	TACGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555871902	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555871928	AGC>TG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872060	->AGCAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872272	T>C	Likely-pathogenic	Splice donor variant
rs1555872755	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555872879	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555872988	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555872997	->AGCCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555873087	A>G	Likely-pathogenic	Splice acceptor variant
rs1555873118	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555873248	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555873650	A>G	Pathogenic	Splice acceptor variant
rs1568928525	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1601963938	->ACGCCGGCTTCTGAGGCTGCACC	Pathogenic, likely-pathogenic	Stop gained, inframe indel, coding sequence variant
rs1601969230	CG>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601969308	C>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all(40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2169389	hsa-miR-122	CLIP-seq
MIRT2169390	hsa-miR-216a	CLIP-seq
MIRT2169391	hsa-miR-4269	CLIP-seq
MIRT2169392	hsa-miR-4438	CLIP-seq
MIRT2169393	hsa-miR-4463	CLIP-seq
MIRT2169394	hsa-miR-4494	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169397	hsa-miR-5095	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq
MIRT2169389	hsa-miR-122	CLIP-seq
MIRT2471952	hsa-miR-1226	CLIP-seq
MIRT2169390	hsa-miR-216a	CLIP-seq
MIRT2169391	hsa-miR-4269	CLIP-seq
MIRT2471953	hsa-miR-4428	CLIP-seq
MIRT2169392	hsa-miR-4438	CLIP-seq
MIRT2169393	hsa-miR-4463	CLIP-seq
MIRT2169394	hsa-miR-4494	CLIP-seq
MIRT2471954	hsa-miR-4645-5p	CLIP-seq
MIRT2471955	hsa-miR-4673	CLIP-seq
MIRT2471956	hsa-miR-4733-3p	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2471957	hsa-miR-4742-5p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169397	hsa-miR-5095	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq
MIRT2674796	hsa-miR-1273g	CLIP-seq
MIRT2674797	hsa-miR-129-5p	CLIP-seq
MIRT2674798	hsa-miR-1297	CLIP-seq
MIRT2674799	hsa-miR-2052	CLIP-seq
MIRT2674800	hsa-miR-26a	CLIP-seq
MIRT2674801	hsa-miR-26b	CLIP-seq
MIRT2674802	hsa-miR-299-3p	CLIP-seq
MIRT2674803	hsa-miR-4465	CLIP-seq
MIRT2674804	hsa-miR-4491	CLIP-seq
MIRT2674805	hsa-miR-4657	CLIP-seq
MIRT2169395	hsa-miR-4735-5p	CLIP-seq
MIRT2674806	hsa-miR-4740-3p	CLIP-seq
MIRT2169396	hsa-miR-4775	CLIP-seq
MIRT2169398	hsa-miR-590-3p	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
DAXX	Repression	20185822

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11533054
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	11274163
GO:0002458	Process	Peripheral T cell tolerance induction	IBA	21873635
GO:0002458	Process	Peripheral T cell tolerance induction	ISS
GO:0002509	Process	Central tolerance induction to self antigen	IBA	21873635
GO:0002509	Process	Central tolerance induction to self antigen	IMP	26084028
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0003682	Function	Chromatin binding	IDA	18292755
GO:0005515	Function	Protein binding	IPI	17474147, 18292755, 20085707, 20185822
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	NAS	9398840
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	IDA	18292755
GO:0006417	Process	Regulation of translation	IEA
GO:0006955	Process	Immune response	TAS	9398840
GO:0006959	Process	Humoral immune response	IBA	21873635
GO:0008270	Function	Zinc ion binding	IDA	19446523
GO:0016604	Component	Nuclear body	ISS
GO:0032602	Process	Chemokine production	IBA	21873635
GO:0032602	Process	Chemokine production	ISS
GO:0042393	Function	Histone binding	IBA	21873635
GO:0042393	Function	Histone binding	IDA	18292755, 19446523
GO:0042802	Function	Identical protein binding	IPI	15712268, 20185822, 28540407
GO:0045060	Process	Negative thymic T cell selection	IBA	21873635
GO:0045182	Function	Translation regulator activity	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	18292755
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	26084028
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11274163
GO:0097536	Process	Thymus epithelium morphogenesis	IBA	21873635
GO:0097536	Process	Thymus epithelium morphogenesis	ISS
GO:2000410	Process	Regulation of thymocyte migration	IBA	21873635
GO:2000410	Process	Regulation of thymocyte migration	ISS

MIM	HGNC	e!Ensembl
607358	360	ENSG00000160224

Protein

UniProt ID

O43918

Protein name

Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)

Protein function

Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the peripher

PDB

1XWH , 2KE1 , 2KFT , 2LRI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03172	HSR	3 → 103	HSR domain	Domain
PF01342	SAND	196 → 249	SAND domain	Family
PF00628	PHD	298 → 343	PHD-finger	Domain

Sequence

MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFH
ALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPK
ALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNG
IQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSG
SGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECA
VCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEP
PVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVT
PAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPA
APFPS

Sequence length

545

Interactions

View interactions

	KEGG
	Ubiquitin mediated proteolysis Primary immunodeficiency

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	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
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
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent	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
Hypoparathyroidism	Hypoparathyroidism, Familial isolated hypoparathyroidism due to impaired PTH secretion	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Polyglandular autoimmune syndrome	Polyglandular Type I Autoimmune Syndrome, Autoimmune Syndrome Type II, Polyglandular, Polyglandular Type III Autoimmune Syndrome	rs121434254, rs121434255, rs386833675, rs121434256, rs387906293, rs387906294, rs121434258, rs387906295, rs267606642, rs193922418, rs386833672, rs386833673, rs386833674, rs179363894, rs179363889, rs179363882, rs179363883, rs179363884, rs179363876, rs179363877, rs179363886, rs179363878, rs179363879, rs179363885, rs179363880, rs786204478, rs786204567, rs764878471, rs886041124, rs886041293, rs1057516272, rs1057516499, rs1057516225, rs1057517428, rs1057516314, rs1057517241, rs1057517268, rs1057517011, rs1057517254, rs1057516411, rs996389327, rs1057517072, rs1057516985, rs1057516811, rs764819068, rs140630532, rs940485051, rs1555871902, rs138489664, rs1555871777, rs769305771, rs1555872879, rs780906602, rs1555872997, rs1555871928, rs1555872060, rs1022025101, rs1555872988, rs1032171597, rs1555872272, rs1162316051, rs1555872755, rs1555873087, rs1555873248, rs1555873650, rs1568928525, rs1488613451, rs763695515, rs1568932096, rs750764323, rs1601963938, rs746101086, rs1601969308, rs760280615, rs1248788128, rs2040485564, rs755490967, rs1568929576, rs1156582406	17675238, 11524731, 17220063, 9398839, 11836330, 21508664, 28919897, 28446514, 11600535, 9888391, 26915675, 14974083, 27504588, 27588307, 27048654, 17289071, 16114041, 1836330, 18708298, 26141571, 19807739, 18292755, 15712268, 16166780, 12050215, 9837820, 21295522, 12625412, 26084028, 17118990, 9921903, 17189144, 20453472, 22162465, 9398840, 18426830, 26114819, 18616706, 18728167, 27426947, 11274163, 19265170, 28567288, 21724609, 24158785, 16965330, 22104652, 18682433, 22024611, 9856486, 20718774, 12173302, 11275943, 20185822, 20407228, 22450362, 10677297, 19446523, 11524733, 23133448, 15649886, 19758376, 16982213, 22460196, 23342054, 15811934, 9717837, 16982213
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, rs748810737, rs886039867, rs886041040, rs886041502, rs748394238, rs770185023, rs753353134, rs886041773, rs886041376, rs886041178, rs758109813, rs750396156, rs886042613, rs749526785, rs886042722, rs371777049, rs115352681, rs773539640, rs886043417, rs886043587, rs201855602, rs886044304, rs770748359, rs770284500, rs141563823, rs752953889, rs762991211, rs749199721, rs1057517533, rs536593247, rs373208120, rs376894444, rs1057517844, rs374536346, rs116471343, rs865990202, rs1057517700, rs543698823, rs1057518922, rs1057518949, rs368088025, rs1057519193, rs556788423, rs1057519316, rs1057519427, rs1057519317, rs1057519341, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs1057520213, rs766246531, rs1060499783, rs1060501181, rs987233144, rs1064793000, rs1064793001, rs767689418, rs1064793002, rs1060505042, rs748014296, rs62636260, rs1064793289, rs1064795279, rs200712760, rs1064795047, rs1064793506, rs1064793745, rs137954284, rs762150575, rs559155109, rs769671323, rs61755776, rs1064796020, rs199740930, rs1064794848, rs139842473, rs1064794342, rs1064794573, rs778884136, rs777849213, rs1555558169, rs1064797113, rs1064797133, rs1064797134, rs770011113, rs1064797215, rs4672457, rs1064797304, rs773065850, rs1064797364, rs1064797365, rs1085307446, rs1085307972, rs1085307968, rs62645747, rs753886165, rs1555962831, rs1556313552, rs140451304, rs539192853, rs749702843, rs752762669, rs1553449458, rs776788104, rs1553260517, rs145282040, rs773914330, rs757740068, rs1003869920, rs1553252388, rs762388072, rs762159022, rs1362058696, rs1553257498, rs1553257685, rs1288381992, rs1285853856, rs1388040238, rs1553263639, rs751111524, rs1553273280, rs1553274531, rs1035024403, rs746551311, rs780308389, rs1338169194, rs772808534, rs199683808, rs778234759, rs1553188588, rs1553192726, rs764759172, rs541717028, rs746238212, rs1553513437, rs569826109, rs367658438, rs1178184685, rs1553354861, rs754995805, rs770339774, rs1553681348, rs1553687058, rs1553780837, rs1553781176, rs771054395, rs201644238, rs780697796, rs745413794, rs567961453, rs781003757, rs370898371, rs1360937549, rs1553812554, rs753942596, rs144484128, rs146591309, rs773278338, rs1554338016, rs1554268546, rs1554269053, rs1554194404, rs1346842287, rs1554204963, rs1554152094, rs181169439, rs1554183432, rs1554183440, rs930421180, rs1291867456, rs1554214453, rs760798455, rs764163418, rs765129639, rs1554519533, rs1554519538, rs1554519546, rs1554519554, rs1554519555, rs1554519577, rs1554519635, rs1449723475, rs1554519651, rs769601671, rs1554520068, rs1554671407, rs756678484, rs1477733493, rs1555099048, rs1555050487, rs756632517, rs781670422, rs1555302710, rs766096417, rs377257254, rs773372123, rs756806434, rs1555488069, rs1555488573, rs760373259, rs1352458826, rs1555493707, rs750620302, rs189234741, rs752997229, rs1555801989, rs1555791188, rs1555793207, rs1555794302, rs748531024, rs1555961832, rs1555961849, rs1555961852, rs1555961964, rs1555962965, rs1555964122, rs1555964133, rs771039023, rs1555965653, rs1555965712, rs1555968526, rs1556318627, rs1556318633, rs1555468632, rs1555794509, rs1461319754, rs1555049194, rs1555468920, rs1231250334, rs1555792879, rs1555793828, rs1233480483, rs1161389116, rs1554090012, rs1554125521, rs1554417054, rs1554519822, rs1555961624, rs559371453, rs1555487977, rs1441549097, rs758052634, rs1553121073, rs758593134, rs1554289078, rs1553122926, rs764831063, rs754768875, rs374268850, rs1420628245, rs1553781140, rs1555961677, rs1555961787, rs1369414978, rs1366496013, rs774573692, rs534534437, rs769838859, rs777678022, rs753090404, rs201730567, rs199679165, rs143344549, rs777465132, rs1554163929, rs751176116, rs1553454799, rs564754426, rs1553250072, rs141672841, rs1553354826, rs201823777, rs1419157426, rs1553261478, rs1553253747, rs1309140887, rs776886395, rs1553681433, rs1553687118, rs370758397, rs1278053918, rs1555965107, rs1555474009, rs1423102192, rs1553515435, rs753994107, rs1554269081, rs769512989, rs1239043055, rs1555794205, rs1553272035, rs1555216730, rs1555550617, rs1553354522, rs748847284, rs1433546528, rs1555968248, rs1555968524, rs1556318642, rs1553263572, rs199636364, rs765476745, rs768161313, rs1553252499, rs763463859, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs1212608410, rs200871041, rs1553248216, rs757676723, rs747160949, rs764917754, rs1295968274, rs1553261898, rs1553250416, rs764182950, rs753505333, rs747063294, rs1553249294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs111033382, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs199782530, rs370327669, rs944675223, rs769001387, rs199982344, rs1553313308, rs1553261479, rs988693758, rs1553313793, rs760302201, rs1553271001, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1553273421, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553270954, rs1553259179, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs768813865, rs748961218, rs771583281, rs1188025733, rs868562952, rs762384558, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs1187839124, rs767414973, rs376155416, rs1326370032, rs1427770112, rs528919874, rs764229134, rs750840208, rs752736741, rs1165454778, rs1554220416, rs751629543, rs1554171033, rs763028732, rs1168101857, rs747240928, rs1207247951, rs1555454566, rs199830550, rs192907397, rs1429137932, rs1558049084, rs1558151555, rs748983904, rs1057518826, rs1558366840, rs1212998897, rs746141070, rs1560121685, rs1560122302, rs1560134806, rs868349465, rs1562079314, rs1562109990, rs1562140604, rs1562154478, rs749410700, rs1246397238, rs1563329888, rs1563330595, rs1563983151, rs1566561006, rs1566888340, rs1566585766, rs1566945534, rs777989874, rs771551785, rs1568600184, rs1569235677, rs1569237206, rs1569238659, rs1569258901, rs767797828, rs1262416703, rs776591659, rs1557447255, rs747393487, rs140039128, rs1160669210, rs1569257917, rs745422941, rs988133284, rs766053952, rs748369458, rs1558251742, rs1559100465, rs281865520, rs776526721, rs777103184, rs1318739667, rs1471994744, rs1562481438, rs1562263385, rs778627080, rs758660532, rs41314534, rs1301139848, rs777629750, rs970990957, rs1466666397, rs779334655, rs1558146243, rs1569236971, rs1569237077, rs775957498, rs1566560531, rs1558112968, rs552517556, rs777215595, rs373203896, rs752930400, rs1569235999, rs779169631, rs1560046837, rs776727320, rs767994904, rs772057239, rs186643840, rs779983752, rs1562220891, rs1428612396, rs200862689, rs530749007, rs200248198, rs150412614, rs1360258103, rs1573592033, rs1578278438, rs1197105310, rs1582928662, rs777889289, rs1602347992, rs781705903, rs1571572235, rs1571945537, rs201238640, rs1571953381, rs1453306308, rs201863550, rs1571941465, rs1571941589, rs753908845, rs1572060087, rs771000800, rs1570382663, rs772421550, rs1572826522, rs959069360, rs1578278354, rs768210562, rs1578281136, rs766357803, rs750147338, rs1577296602, rs1581180469, rs1581190641, rs1265680220, rs976670244, rs1581312596, rs1581697849, rs753314164, rs61755811, rs748838955, rs1582221424, rs74419361, rs777482895, rs1582376609, rs1468020897, rs1585557752, rs1585563087, rs1250214380, rs1585563204, rs1585563965, rs1585564175, rs879399888, rs1585567204, rs368489658, rs1594866237, rs759339012, rs1595956455, rs1595956595, rs1365926616, rs775887058, rs1596974169, rs1596996962, rs1600341902, rs1600341931, rs1600355373, rs1600355502, rs1600360338, rs1600360654, rs1601891936, rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, rs1589313739, rs1594214013, rs1371805993, rs1594224781, rs1594280914, rs1594246708, rs1594867516, rs1594867597, rs776270511, rs1595957521, rs1028371920, rs1597445687, rs1176869304, rs1597340989, rs886276412, rs1479239564, rs1600342032, rs1184467860, rs1555961440, rs1346308311, rs1601920423, rs1601920599, rs1601923388, rs1601923578, rs907856232, rs1601940608, rs281865302, rs1601951704, rs1601972255, rs1601972449, rs1601978991, rs1602342597, rs1602347786, rs1602347851, rs1276597208, rs1577301137, rs1561671507, rs1595009158, rs1597951232, rs1600342050, rs1602071514, rs1601931052, rs1602342663, rs1658062720, rs1653548589, rs1659645978, rs1659651471, rs1660519681, rs1664301074, rs771257822, rs1656419435, rs1656646424, rs754834155, rs948087886, rs755099565, rs1657965422, rs1657992030, rs1657996197, rs1386612395, rs1660298900, rs764113446, rs1259758261, rs1664490756, rs1667316070, rs1421761057, rs2032462132, rs758733024, rs2036149054, rs2039692173, rs1659900155, rs1659902823, rs1660937747, rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	21505073

Show/Hide Unknown Diseases (13)

Unknown
Disease name	Disease term	dbSNP ID	References
Addison`s disease	Addison Disease
Adrenal hyperplasia	Adrenal hyperplasia
Adrenal hypoplasia, x-linked	X-linked Adrenal Hypoplasia
Alopecia	Alopecia
Autoimmune polyendocrinopathy	Polyendocrinopathies, Autoimmune, Autoimmune polyendocrinopathy type 1, Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant, Autoimmune polyendocrinopathy syndrome, type 1		16982213, 23342054, 22460196
Autoimmune polyendocrinopathy syndrome, with reversible metaphyseal dysplasia	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
Asplenia	Congenital absence of spleen
Dental enamel hypoplasia	Dental Enamel Hypoplasia
Female hypogonadism syndrome	Female hypogonadism syndrome
Polyglandular deficiency syndrome	Polyglandular Deficiency Syndrome, Persian-Jewish Type
Skin cancer	Malignant neoplasm of skin		26168014
Skin neoplasms	Skin Neoplasms		26168014
Testicular hypogonadism	Testicular hypogonadism

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