TMPRSS6 (transmembrane serine protease 6)

Gene

• Entrez ID: 164656
• Gene name: Transmembrane serine protease 6
• Gene symbol: TMPRSS6
• Synonyms (NCBI Gene): IRIDA, MT2
• Disease Acronyms (UniProt): IRIDA
• Chromosome: 22
• Chromosome location: 22q12.3
• Summary: The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853119	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853120	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853121	G>T	Pathogenic	Coding sequence variant, stop gained
rs137853122	A>C	Pathogenic	Coding sequence variant, stop gained
rs137853123	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs267607121	G>T	Pathogenic	Coding sequence variant, missense variant
rs387907018	C>T	Pathogenic	Missense variant, coding sequence variant
rs767094129	CC>-,C,CCC	Pathogenic	Frameshift variant, coding sequence variant
rs775869554	G>A	Pathogenic	Coding sequence variant, stop gained
rs786205058	C>T	Pathogenic	Splice donor variant
rs786205059	C>G	Pathogenic	Splice donor variant
rs786205060	->GGGG	Pathogenic	Frameshift variant, coding sequence variant
rs869320724	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs1384933966	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569024289	G>C	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030016	hsa-miR-26b-5p	Microarray	19088304
MIRT721887	hsa-miR-6798-5p	HITS-CLIP	19536157
MIRT721886	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT721885	hsa-miR-1266-5p	HITS-CLIP	19536157
MIRT721884	hsa-miR-4518	HITS-CLIP	19536157
MIRT721883	hsa-miR-661	HITS-CLIP	19536157
MIRT721882	hsa-miR-2861	HITS-CLIP	19536157
MIRT721881	hsa-miR-6772-5p	HITS-CLIP	19536157
MIRT721880	hsa-miR-4455	HITS-CLIP	19536157
MIRT721879	hsa-miR-609	HITS-CLIP	19536157
MIRT721878	hsa-miR-4417	HITS-CLIP	19536157
MIRT721877	hsa-miR-4265	HITS-CLIP	19536157
MIRT721876	hsa-miR-4296	HITS-CLIP	19536157
MIRT721875	hsa-miR-4322	HITS-CLIP	19536157
MIRT721887	hsa-miR-6798-5p	HITS-CLIP	19536157
MIRT721886	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT721885	hsa-miR-1266-5p	HITS-CLIP	19536157
MIRT721884	hsa-miR-4518	HITS-CLIP	19536157
MIRT721883	hsa-miR-661	HITS-CLIP	19536157
MIRT721882	hsa-miR-2861	HITS-CLIP	19536157
MIRT721881	hsa-miR-6772-5p	HITS-CLIP	19536157
MIRT721880	hsa-miR-4455	HITS-CLIP	19536157
MIRT721879	hsa-miR-609	HITS-CLIP	19536157
MIRT721878	hsa-miR-4417	HITS-CLIP	19536157
MIRT721877	hsa-miR-4265	HITS-CLIP	19536157
MIRT721876	hsa-miR-4296	HITS-CLIP	19536157
MIRT721875	hsa-miR-4322	HITS-CLIP	19536157
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441177	hsa-miR-1291	CLIP-seq
MIRT1441178	hsa-miR-296-5p	CLIP-seq
MIRT1441179	hsa-miR-3173-5p	CLIP-seq
MIRT1441180	hsa-miR-338-3p	CLIP-seq
MIRT1441181	hsa-miR-3689d	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT1441183	hsa-miR-4310	CLIP-seq
MIRT1441184	hsa-miR-4459	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT1441186	hsa-miR-541	CLIP-seq
MIRT1441187	hsa-miR-654-5p	CLIP-seq
MIRT1441188	hsa-miR-665	CLIP-seq
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441180	hsa-miR-338-3p	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT1441183	hsa-miR-4310	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT2353191	hsa-miR-4492	CLIP-seq
MIRT2353192	hsa-miR-4498	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT2353193	hsa-miR-762	CLIP-seq
MIRT1441176	hsa-miR-1179	CLIP-seq
MIRT1441182	hsa-miR-4252	CLIP-seq
MIRT1441183	hsa-miR-4310	CLIP-seq
MIRT1441185	hsa-miR-4663	CLIP-seq
MIRT2646818	hsa-miR-34a	CLIP-seq
MIRT2646819	hsa-miR-34c-5p	CLIP-seq
MIRT2646820	hsa-miR-3684	CLIP-seq
MIRT2646821	hsa-miR-449a	CLIP-seq
MIRT2646822	hsa-miR-449b	CLIP-seq
MIRT2646823	hsa-miR-4646-3p	CLIP-seq
MIRT2646824	hsa-miR-4671-5p	CLIP-seq
MIRT2646818	hsa-miR-34a	CLIP-seq
MIRT2646819	hsa-miR-34c-5p	CLIP-seq
MIRT2646820	hsa-miR-3684	CLIP-seq
MIRT2646821	hsa-miR-449a	CLIP-seq
MIRT2646822	hsa-miR-449b	CLIP-seq
MIRT2646823	hsa-miR-4646-3p	CLIP-seq
MIRT2646824	hsa-miR-4671-5p	CLIP-seq
MIRT2693590	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	19357398
GO:0005615	Component	Extracellular space	IDA	25156943
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	19357398
GO:0005886	Component	Plasma membrane	TAS
GO:0006879	Process	Cellular iron ion homeostasis	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030574	Process	Collagen catabolic process	TAS
GO:0033619	Process	Membrane protein proteolysis	IMP	25156943
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	25156943
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0055072	Process	Iron ion homeostasis	IBA	21873635
GO:0055072	Process	Iron ion homeostasis	IMP	18408718
GO:0097264	Process	Self proteolysis	IMP	25156943

Other IDs

• MIM: 609862
• HGNC: 16517
• e!Ensembl: ENSG00000187045

Protein

• UniProt ID: Q8IU80
• Protein name: Transmembrane protease serine 6 (EC 3.4.21.-) (Matriptase-2)
• Protein function: Membrane-bound serine protease (PubMed:18976966, PubMed:20518742, PubMed:25156943, PubMed:25588876). Through the cleavage of cell surface hemojuvelin (HJV), a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01390	SEA	86 → 192	SEA domain	Family
  PF00057	Ldl_recept_a	490 → 525	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	529 → 566	Low-density lipoprotein receptor domain class A	Repeat
  PF00089	Trypsin	577 → 806	Trypsin	Domain

• Sequence:

  MLLLFHSKRMPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLL
  ALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHFSQDLTRRESSAFRSETAKAQK
  MLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELL
  STVNSSAAVPYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDH
  LASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAGPLEKRLITSVYGCSRQEPVVE
  VLASGAIMAVVWKKGLHSYYDPFVLSVQPVVFQACEVNLTLDNRLDSQGVLSTPYFPSYY
  SPQTHCSWHLTVPSLDYGLALWFDAYALRRQKYDLPCTQGQWTIQNRRLCGLRILQPYAE
  RIPVVATAGITINFTSQISLTGPGVRVHYGLYNQSDPCPGEFLCSVNGLCVPACDGVKDC
  PNGLDERNCVCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVPCGTFTFQCED
  RSCVKKPNPQCDGRPDCRDGSDEEHCDCGLQGPSSRIVGGAVSSEGEWPWQASLQVRGRH
  ICGGALIADRWVITAAHCFQEDSMASTVLWTVFLGKVWQNSRWPGEVSFKVSRLLLHPYH
  EEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSHFFEPGLHCWITGWGALREGGPISNAL
  QKVDVQLIPQDLCSEVYRYQVTPRMLCAGYRKGKKDACQGDSGGPLVCKALSGRWFLAGL
  VSWGLGCGRPNYFGVYTRITGVISWIQQVVT

• Sequence length: 811

Pathways

Reactome:

Collagen degradation
Degradation of the extracellular matrix

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Iron-Refractory Iron Deficiency Anemia, Microcytic hypochromic anemia (disorder)	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	22581667, 18408718, 21618415, 19592582, 19708871, 20232450, 25588876, 25156943, 19357398, 25252070, 20704562, 19747362, 18603562
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
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Intrahepatic cholestasis	Intrahepatic Cholestasis	rs121918299, rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs72549401, rs11568372, rs1553469602, rs387907317, rs387906354, rs752919965, rs72549397, rs111033609, rs121909099, rs387906381, rs121909100, rs121909101, rs121909104, rs121909105, rs387906526, rs121918440, rs387906527, rs72552778, rs387906529, rs121918443, rs72552780, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs515726137, rs587777519, rs587777520, rs587777521, rs879255644, rs113090017, rs864321695, rs776869985, rs864321697, rs80338720, rs746155190, rs879255504, rs886041948, rs886042562, rs769910565, rs758069019, rs886043807, rs72549402, rs72549395, rs188824058, rs763782349, rs375315619, rs754287486, rs1057518679, rs1060499649, rs1060499579, rs1554660803, rs1554407511, rs774824767, rs771690686, rs752992432, rs1553466082, rs72549396, rs772294884, rs764513998, rs1202682161, rs759202962, rs1562774655, rs1562831765, rs1562945221, rs917981474, rs1558927163, rs765889649, rs1562976061, rs72549399, rs1459273753, rs377160065, rs1559183717, rs760750012, rs1051861187, rs1558898789, rs928915940, rs752757689, rs1584678508, rs764581483, rs1574453508, rs751511532, rs1182781290, rs376368459, rs762702807, rs1578499691, rs199791850, rs1452792080, rs1458423947, rs1584747270, rs1584750653, rs1599066459, rs1599069873, rs1599166106, rs1574462504, rs1593114820, rs1057524081, rs1588081022, rs777460754, rs1251192873, rs1588117076, rs748671901, rs139314808, rs749009273, rs1588080674, rs1588080680, rs1588127136, rs1588135086, rs757693457, rs1574445178, rs768922690, rs1584422832, rs1584433525, rs1312396424, rs1792048079, rs774411820, rs575729461
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia	Associate	23433094, 25557470, 30984307, 34444942
Anemia Hemolytic	Associate	22509377, 24175968
Anemia hypochromic microcytic	Associate	18596229
Anemia Iron Deficiency	Associate	18408718, 18596229, 18603562, 19357398, 19818657, 20713458, 20966077, 21873547, 22581667, 23319530, 24782651, 24867957, 25557470, 25588876, 28447549, 28460265, 29194702, 32446932, 34444942, 34780475, 39582459
beta Thalassemia	Associate	23144979
Carcinoma Hepatocellular	Associate	30135444
Carcinoma Non Small Cell Lung	Associate	35178045
Celiac Disease	Associate	29194702, 34444942
Chemical and Drug Induced Liver Injury	Associate	23144979
Chronic Disease	Associate	23433094
Composite Lymphoma	Associate	35052344
Coronary Artery Disease	Associate	28684612
COVID 19	Associate	38309700
Diabetes Mellitus	Associate	36585034
Diabetes Mellitus Type 2	Associate	22301935, 22815867
Fabry Disease	Associate	36140670
Glioma	Associate	27898674
Glycogen Storage Disease XII	Associate	33887194
Heart Diseases	Associate	31226389
Hemochromatosis	Associate	23433094
Hepatitis C Chronic	Associate	37632052
Hypercholesterolemia	Associate	31220083
Hyperferritinemia	Associate	23319530
Hypoxia	Stimulate	20966077
Inflammation	Associate	23433094, 33272965
Iron Deficiencies	Associate	18596229, 18603562, 19818657, 20738301, 22265928, 23144979, 23433094, 28447549, 28460265, 31010126, 33054130, 34780475
Iron Overload	Associate	22301935, 23144979
Iron Refractory Iron Deficiency Anemia	Associate	18408718, 20738301, 22509377, 22581667, 23319530, 25557470, 27643674, 28169443, 28447549, 30135444, 32253873, 32446932, 35893046, 36604716, 39582459
Kidney Failure Chronic	Associate	30984307
Lupus Erythematosus Systemic	Associate	33693920
Menorrhagia	Associate	24782651
Mental Disorders	Associate	31226389
Neoplasms	Associate	35178045
Non alcoholic Fatty Liver Disease	Associate	23144979
Peripheral Arterial Disease	Associate	20927387
Pica	Associate	22265928
Renal Insufficiency	Associate	36585034
Thalassemia	Associate	25557470