DIO3 (iodothyronine deiodinase 3)

Gene

• Entrez ID: 1735
• Gene name: Iodothyronine deiodinase 3
• Gene symbol: DIO3
• Synonyms (NCBI Gene): 5DIII, D3, DIOIII, TXDI3
• Chromosome: 14
• Chromosome location: 14q32.31
• Summary: The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3`,5-triiodothyronine (T3)

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT936621	hsa-let-7a	CLIP-seq
MIRT936622	hsa-let-7b	CLIP-seq
MIRT936623	hsa-let-7c	CLIP-seq
MIRT936624	hsa-let-7d	CLIP-seq
MIRT936625	hsa-let-7e	CLIP-seq
MIRT936626	hsa-let-7f	CLIP-seq
MIRT936627	hsa-let-7g	CLIP-seq
MIRT936628	hsa-let-7i	CLIP-seq
MIRT936629	hsa-miR-1206	CLIP-seq
MIRT936630	hsa-miR-1321	CLIP-seq
MIRT936631	hsa-miR-1915	CLIP-seq
MIRT936632	hsa-miR-3175	CLIP-seq
MIRT936633	hsa-miR-4270	CLIP-seq
MIRT936634	hsa-miR-4441	CLIP-seq
MIRT936635	hsa-miR-4445	CLIP-seq
MIRT936636	hsa-miR-4458	CLIP-seq
MIRT936637	hsa-miR-4500	CLIP-seq
MIRT936638	hsa-miR-4726-3p	CLIP-seq
MIRT936639	hsa-miR-4739	CLIP-seq
MIRT936640	hsa-miR-4756-5p	CLIP-seq
MIRT936641	hsa-miR-935	CLIP-seq
MIRT936642	hsa-miR-98	CLIP-seq
MIRT1977151	hsa-miR-1301	CLIP-seq
MIRT1977152	hsa-miR-3162-3p	CLIP-seq
MIRT1977153	hsa-miR-3614-5p	CLIP-seq
MIRT1977154	hsa-miR-3616-3p	CLIP-seq
MIRT1977155	hsa-miR-3944-5p	CLIP-seq
MIRT1977156	hsa-miR-4660	CLIP-seq
MIRT1977157	hsa-miR-4721	CLIP-seq
MIRT1977158	hsa-miR-4734	CLIP-seq
MIRT1977159	hsa-miR-5047	CLIP-seq
MIRT1977160	hsa-miR-593	CLIP-seq
MIRT1977161	hsa-miR-647	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004800	Function	Thyroxine 5'-deiodinase activity	IBA	21873635
GO:0004800	Function	Thyroxine 5'-deiodinase activity	NAS	7593630
GO:0004800	Function	Thyroxine 5'-deiodinase activity	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006590	Process	Thyroid hormone generation	TAS
GO:0010008	Component	Endosome membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0033798	Function	Thyroxine 5-deiodinase activity	IDA	18566113
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042403	Process	Thyroid hormone metabolic process	IBA	21873635
GO:0042403	Process	Thyroid hormone metabolic process	IGI	26305885
GO:0042404	Process	Thyroid hormone catabolic process	IEA
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042480	Process	Negative regulation of eye photoreceptor cell development	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046549	Process	Retinal cone cell development	IEA
GO:0097474	Process	Retinal cone cell apoptotic process	IEA

Other IDs

• MIM: 601038
• HGNC: 2885
• e!Ensembl: ENSG00000197406

Protein

• UniProt ID: P55073
• Protein name: Thyroxine 5-deiodinase (EC 1.21.99.3) (5DIII) (DIOIII) (Type 3 DI) (Type III iodothyronine deiodinase)
• Protein function: Plays a crucial role in the metabolism of thyroid hormones (TH) and has specific roles in TH activation and inactivation by deiodination (PubMed:7593630, PubMed:12586771, PubMed:12746313, PubMed:18821722). Catalyzes the deiodination of L-thyroxi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00837	T4_deiodinase	38 → 293	Iodothyronine deiodinase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placenta and several fetal tissues. {ECO:0000269|PubMed:7593630}.
• Sequence:

  MPRQATSRLVVGEGEGSQGASGPAATMLRSLLLHSLRLCAQTASCLVLFPRFLGTAFMLW
  LLDFLCIRKHFLGRRRRGQPEPEVELNSEGEEVPPDDPPICVSDDNRLCTLASLKAVWHG
  QKLDFFKQAHEGGPAPNSEVVLPDGFQSQHILDYAQGNRPLVLNFGSCTUPPFMARMSAF
  QRLVTKYQRDVDFLIIYIEEAHPSDGWVTTDSPYIIPQHRSLEDRVSAARVLQQGAPGCA
  LVLDTMANSSSSAYGAYFERLYVIQSGTIMYQGGRGPDGYQVSELRTWLERYDEQLHGAR
  PRRV

• Sequence length: 304

Pathways

KEGG:

Thyroid hormone signaling pathway

Reactome:

Regulation of thyroid hormone activity

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	24781735
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	25330770
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	25330770
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	25330770
Papillary thyroid carcinoma	Papillary thyroid carcinoma	rs751409106	28030816
Schizophrenia	Schizophrenia	rs13447324, 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	21727898
Thyroid cancer	Familial Nonmedullary Thyroid Cancer	rs119486096, rs104894171, rs28933406, rs11554290, rs121913364, rs797044990, rs1564566774, rs200989342	28030816

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Spontaneous	Inhibit	37968664
Adenocarcinoma of Lung	Associate	27829231
Breast Neoplasms	Associate	29051564, 32807826, 37741974
Carcinoma Hepatocellular	Associate	21737452, 36482325
Carcinoma Renal Cell	Associate	12778072
Carcinoma Squamous Cell	Associate	27829231
Cardiovascular Diseases	Associate	34895303
Compulsive Personality Disorder	Associate	29483278
Death	Associate	32807826
Diabetes Mellitus	Associate	30519591
Dyskinesia Drug Induced	Associate	26718579
Dystonic Disorders	Associate	20960437
Fatty Liver Alcoholic	Associate	32106257
Giant Cell Tumor of Bone	Associate	25005035
Giant Cell Tumors	Associate	25005035
Glioblastoma	Associate	32459347
Hematologic Neoplasms	Associate	19750229
Hepatoblastoma	Associate	32240714
Heredodegenerative Disorders Nervous System	Associate	25559585
Ischemia	Inhibit	30649309
Liposarcoma Myxoid	Associate	25115389
Lung Neoplasms	Associate	27829231
Multiple Myeloma	Associate	15755896, 25886144
Multiple Sclerosis	Associate	30743997
Neoplasm Metastasis	Associate	23105110
Neoplasms	Associate	19750229, 23105110, 25005035, 27829231, 28837140, 29051564, 32459347, 32807826, 34813763, 36221911, 36482325
Neoplasms	Inhibit	35445910
Neuraminidase 1 deficiency	Associate	25115389
Non alcoholic Fatty Liver Disease	Associate	32106257
Obesity	Associate	36320063
Osteoarthritis Knee	Associate	22102359
Parkinson Disease	Associate	29483278, 29541577
Prostatic Neoplasms	Associate	26658999
Respiratory Insufficiency	Associate	27829231
Uniparental disomy paternal chromosome 14	Associate	34813763
Urinary Bladder Neoplasms	Associate	30526300, 34196584
Vitamin D Deficiency	Associate	23219444