LPO (lactoperoxidase)

Gene

• Entrez ID: 4025
• Gene name: Lactoperoxidase
• Gene symbol: LPO
• Synonyms (NCBI Gene): SPO
• Chromosome: 17
• Chromosome location: 17q22
• Summary: This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the gene

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1116526	hsa-miR-3545-3p	CLIP-seq
MIRT1116527	hsa-miR-4475	CLIP-seq
MIRT1116528	hsa-miR-4521	CLIP-seq
MIRT1116529	hsa-miR-4704-3p	CLIP-seq
MIRT1116530	hsa-miR-616	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001580	Process	Detection of chemical stimulus involved in sensory perception of bitter taste	IDA	24248522
GO:0004601	Function	Peroxidase activity	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	24248522
GO:0005737	Component	Cytoplasm	IEA
GO:0006979	Process	Response to oxidative stress	NAS	8964511
GO:0016323	Component	Basolateral plasma membrane	IDA	19059195
GO:0018969	Process	Thiocyanate metabolic process	IEA
GO:0020037	Function	Heme binding	IEA
GO:0036393	Function	Thiocyanate peroxidase activity	IBA	21873635
GO:0036393	Function	Thiocyanate peroxidase activity	IDA	12626341
GO:0042742	Process	Defense response to bacterium	IBA	21873635
GO:0042742	Process	Defense response to bacterium	IDA	12626341
GO:0042744	Process	Hydrogen peroxide catabolic process	IEA
GO:0045454	Process	Cell redox homeostasis	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 150205
• HGNC: 6678
• e!Ensembl: ENSG00000167419

Protein

• UniProt ID: P22079
• Protein name: Lactoperoxidase (LPO) (EC 1.11.1.7) (Salivary peroxidase) (SPO)
• Protein function: Heme-containing oxidoreductase which catalyzes the conversion of thiocyanate (SCN(-)) into antimicrobial agent hypothiocyanous acid (OSCN(-)) in the presence of hydrogen peroxide (H2O2) (By similarity). Also involved in the conversion of iodide
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03098	An_peroxidase	138 → 684	Animal haem peroxidase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mammary gland, milk and salivary gland. Found in bronchial submucosal glands. {ECO:0000269|PubMed:10715594, ECO:0000269|PubMed:12626341}.
• Sequence:

  MRVLLHLPALLASLILLQAAASTTRAQTTRTSAISDTVSQAKVQVNKAFLDSRTRLKTAM
  SSETPTSRQLSEYLKHAKGRTRTAIRNGQVWEESLKRLRQKASLTNVTDPSLDLTSLSLE
  VGCGAPAPVVRCDPCSPYRTITGDCNNRRKPALGAANRALARWLPAEYEDGLSLPFGWTP
  GKTRNGFPLPLAREVSNKIVGYLNEEGVLDQNRSLLFMQWGQIVDHDLDFAPDTELGSSE
  YSKAQCDEYCIQGDNCFPIMFPPNDPKAGTQGKCMPFFRAGFVCPTPPYKSLAREQINAL
  TSFLDASFVYSSEPSLASRLRNLSSPLGLMAVNQEVSDHGLPYLPYDSKKPSPCEFINTT
  ARVPCFLAGDSRASEHILLATSHTLFLREHNRLARELKRLNPQWDGEKLYQEARKILGAF
  VQIITFRDYLPILLGDHMQKWIPPYQGYSESVDPRISNVFTFAFRFGHLEVPSSMFRLDE
  NYQPWGPEPELPLHTLFFNTWRMVKDGGIDPLVRGLLAKKSKLMKQNKMMTGELRNKLFQ
  PTHRIHGFDLAAINTQRCRDHGQPGYNSWRAFCDLSQPQTLEELNTVLKSKMLAKKLLGL
  YGTPDNIDIWIGAIAEPLVERGRVGPLLACLLGKQFQQIRDGDRFWWENPGVFTNEQKDS
  LQKMSFSRLVCDNTRITKVPRDPFWANSYPYDFVDCSAIDKLDLSPWASVKN

• Sequence length: 712

Pathways

KEGG:

Salivary secretion
Chemical carcinogenesis - reactive oxygen species

Reactome:

Events associated with phagocytolytic activity of PMN cells

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bardet-biedl syndrome	BARDET-BIEDL SYNDROME 13	rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059, rs587777804, rs104893678, rs104893679, rs104893680, rs104893681, rs587777806, rs587777807, rs119103286, rs587777808, rs201938124, rs137852856, rs587777810, rs137852857, rs137852858, rs587777811, rs606231137, rs119466001, rs119466002, rs587777812, rs587777824, rs121908174, rs121908175, rs121908176, rs121908177, rs121908178, rs121908179, rs138043021, rs587777825, rs587777826, rs121908180, rs121908181, rs281797258, rs74315396, rs74315397, rs587777827, rs74315399, rs137853154, rs281797259, rs587777828, rs1574339529, rs767221160, rs121908581, rs121908582, rs111033570, rs111033571, rs1588218453, rs121434632, rs113994189, rs113994192, rs28938468, rs113624356, rs121917777, rs587777829, rs587777830, rs113994195, rs113994196, rs113994178, rs113994190, rs113994191, rs137854887, rs587777836, rs587777837, rs148374859, rs387907136, rs193922710, rs193922711, rs431825171, rs386834044, rs386834046, rs386834047, rs386834050, rs201933838, rs386834051, rs386834149, rs386834152, rs386834153, rs62640570, rs386834159, rs199474722, rs137854907, rs151344630, rs179363897, rs62640580, rs62640582, rs62640574, rs62638179, rs281865187, rs281865188, rs62640578, rs515726134, rs515726135, rs515726136, rs587777546, rs587783009, rs587783010, rs587783016, rs587777846, rs587777847, rs672601379, rs727503781, rs727503818, rs727503853, rs786204444, rs786204701, rs768443448, rs770556842, rs786204705, rs786204575, rs786204573, rs786204671, rs756368560, rs749974697, rs786205636, rs786205855, rs370540673, rs794727006, rs797044632, rs794727070, rs766608755, rs370119681, rs758329611, rs770258677, rs376306240, rs797045946, rs797045948, rs797045706, rs863224529, rs863224530, rs762511626, rs863224534, rs863224782, rs761101213, rs863224522, rs869025207, rs869025208, rs869025204, rs869025205, rs869025209, rs869025211, rs869025210, rs869025206, rs863225187, rs771454167, rs575767207, rs756302731, rs780624853, rs863225182, rs863225189, rs863225183, rs727503855, rs863225186, rs758550675, rs768933093, rs756853299, rs878853352, rs371496675, rs878853360, rs377031435, rs878855095, rs200699377, rs746797123, rs886039875, rs751375244, rs775081992, rs886039799, rs886039801, rs886039798, rs758522600, rs886039805, rs886039802, rs886039800, rs886039797, rs780225183, rs886041464, rs760165634, rs886042359, rs886042360, rs886042729, rs201196733, rs773139166, rs886043841, rs886044106, rs886044668, rs770218590, rs752202089, rs1057515576, rs1057517193, rs764245266, rs1057516449, rs1057516507, rs1057517007, rs1057516451, rs376894444, rs1057516933, rs1057516502, rs1057516330, rs1057517332, rs1057516427, rs1057517143, rs746875134, rs1057516661, rs1057516371, rs1057516533, rs1057516901, rs775769424, rs773632109, rs1057516628, rs1057516754, rs375413604, rs1057516669, rs1057517031, rs773864735, rs759682922, rs1057517156, rs1057517206, rs1057516623, rs765561672, rs1057516998, rs1057516836, rs1057517184, rs1057516266, rs1057516753, rs774095109, rs1057516240, rs1057516701, rs1057516861, rs147030232, rs865870355, rs775043799, rs757641323, rs773386777, rs1057518822, rs1057519165, rs1057519027, rs775710800, rs1060499781, rs137962929, rs1060503690, rs1166022838, rs775950661, rs1060500996, rs367882912, rs1060503692, rs749017489, rs766087213, rs1064796315, rs1555202695, rs763762899, rs777464278, rs1555220638, rs1553794304, rs1578522416, rs780059308, rs1555202801, rs1553529427, rs1473611414, rs1553941312, rs752762669, rs898539189, rs1555202645, rs762668200, rs756632517, rs965522059, rs1555049194, rs1302879683, rs1555212271, rs1555220625, rs200818935, rs1553930514, rs1381368546, rs747388658, rs759376012, rs766670248, rs1555534964, rs1555202697, rs1286714661, rs1272411609, rs1555202584, rs567573386, rs1452465499, rs747685252, rs1555523398, rs1555213204, rs1555202538, rs1555197766, rs1555202806, rs1555801973, rs1460517643, rs1555047786, rs1555802009, rs1221499782, rs771266705, rs781174906, rs1170451277, rs1555225566, rs772757329, rs1553933472, rs991365297, rs1269565757, rs1555047409, rs200116631, rs776645403, rs757609119, rs770891152, rs751361090, rs753338844, rs1397714772, rs769588983, rs1553941255, rs1553941258, rs1553941279, rs1553941369, rs1195341481, rs1284876635, rs1553941540, rs1444062882, rs756061536, rs1173504533, rs1553941391, rs766741204, rs1553941433, rs745448288, rs770872200, rs1553941304, rs1553941404, rs1553941580, rs751753112, rs1555046748, rs771517209, rs748523268, rs1555050394, rs1014835928, rs1555049933, rs1182864166, rs1313590454, rs1555046611, rs1555049893, rs1555050268, rs1555050404, rs1555202546, rs1555202562, rs769028262, rs1389599028, rs1555202654, rs1555202731, rs1306821707, rs1353098253, rs183771956, rs1555202572, rs1555202583, rs759185809, rs1555202614, rs1555202636, rs758732081, rs1555202740, rs1310735399, rs1555202599, rs1555202642, rs1555202681, rs1278460471, rs1555202607, rs760642305, rs753604828, rs1555202656, rs1555202657, rs1156913215, rs574032499, rs1555202698, rs1555202737, rs760693838, rs202228478, rs1555520256, rs1555521379, rs777234811, rs1555522893, rs1273181642, rs1367927635, rs1555524593, rs1166717771, rs745951028, rs201063733, rs778090540, rs1555522000, rs544773389, rs773862084, rs1555520142, rs1555520220, rs762047808, rs1555521501, rs1555522252, rs764164384, rs1047075022, rs779690256, rs773417074, rs1555523964, rs750506474, rs1488635637, rs1555599412, rs1555521489, rs878962682, rs746171104, rs1555523584, rs375170572, rs1477098739, rs1559122157, rs1565289799, rs1565809409, rs1054138918, rs1466289570, rs1800908907, rs746478265, rs1563049863, rs1560638613, rs1564218190, rs1565809597, rs772170760, rs1565809867, rs750258633, rs1272140892, rs1559121920, rs1339432710, rs138011813, rs1562686929, rs1562917450, rs1565287512, rs1160669210, rs1486200900, rs1565291081, rs1340165752, rs1565809995, rs781421232, rs1565810301, rs1465437164, rs1567412639, rs1567427651, rs767373822, rs1568662687, rs1306231185, rs1568666460, rs780659194, rs1569077441, rs753884599, rs1559126736, rs1226386838, rs1472488128, rs1565835538, rs1565286223, rs763299856, rs1565286202, rs1390963789, rs1560658189, rs772917364, rs1565287921, rs1565809478, rs1567576202, rs1578489760, rs1470030897, rs1229015450, rs767481770, rs1356713858, rs1368647604, rs770084716, rs1559122277, rs561598805, rs1592726020, rs776004321, rs762276925, rs777420525, rs1578491070, rs1578491135, rs745656125, rs1294402003, rs587783017, rs778030031, rs754728136, rs749331348, rs1339975972, rs1468942944, rs760415289, rs1290241933, rs372822977, rs1597016660, rs1578537379, rs1587357327, rs751922029, rs775928735, rs768385647, rs1326810030, rs200113494, rs747266069, rs1490351829, rs1590772920, rs1592491950, rs1039146791, rs1597012997, rs1578577361, rs375548374, rs763473957, rs767822498, rs1578564877, rs1590762360, rs1592784618, rs1595935759, rs2037751886, rs1856758582, rs1951757988, rs1951767864, rs2065331681, rs1592492255, rs45502896, rs745497072, rs1221464366, rs773622064, rs2037752645, rs1354476372, rs772544112, rs1683644662, rs1394015094, rs767005321, rs398124253, rs35904234, rs778850233, rs138744839, rs778431173, rs1951758601, rs1951767589, rs553291328, rs2033254449, rs781310385, rs1364945778, rs761907569, rs1033594764, rs1186821575, rs1199538371, rs1363846772, rs777218224, rs903778224, rs1726566546, rs2039659434, rs761969357, rs1419924139, rs1363498219, rs762782183, rs974173261, rs1560708847, rs1856790811, rs2033937635, rs748471942, rs762633090, rs774490795, rs2065896039, rs759131391, rs1560664459, rs1856202628, rs1856699646, rs752197734, rs1295000119, rs2034232539, rs750073051, rs763559949	16415886, 17397051
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003, rs199469707, rs11230683, rs386834044, rs386834149, rs267604575, rs587777079, rs587777653, rs587783013, rs778149316, rs786204135, rs386834043, rs786204189, rs786204788, rs794729195, rs534542684, rs797045223, rs863224523, rs201502401, rs374144275, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs863225199, rs775518991, rs752300607, rs863225202, rs863225200, rs863225198, rs754637179, rs755459875, rs863225151, rs863225222, rs863225221, rs863225220, rs201010803, rs863225214, rs369488112, rs863225207, rs863225204, rs863225210, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs750436680, rs863225150, rs757863670, rs864309712, rs878855006, rs1114167302, rs768663992, rs760952407, rs1057517498, rs1057517528, rs767384710, rs756789619, rs1057520085, rs1057520162, rs142759730, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs779450345, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs767018622, rs565629362, rs905262279, rs1554214237, rs771866500, rs754404879, rs1554972547, rs1560002959, rs1564430716, rs756276537, rs1431917892, rs1565088283, rs1277577195, rs1562753388, rs772289223, rs777215595, rs747322175, rs751823180, rs751477523, rs187245292, rs1574587553, rs762334514, rs747514855, rs1318058212, rs1583179845, rs1589150410, rs1588830568, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs771226563, rs1784887448, rs781198326	26092869, 17397051
Joubert syndrome	JOUBERT SYNDROME 28	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129, rs267607020, rs137852832, rs62635288, rs137852834, rs267606719, rs1554557920, rs137853107, rs756686115, rs758948621, rs137853108, rs267607119, rs786200867, rs267607115, rs267607116, rs201893408, rs267607118, rs202149403, rs121912606, rs121912607, rs121912608, rs121434348, rs121434349, rs121434350, rs267606641, rs387906270, rs267606916, rs312262895, rs312262894, rs201391050, rs387907003, rs367543065, rs1584916464, rs2117674119, rs781815473, rs1584901211, rs1487082103, rs374349989, rs143149764, rs199469707, rs793888505, rs387907131, rs748510210, rs917404097, rs387907132, rs387907133, rs387907134, rs367543061, rs367543062, rs367543064, rs367543063, rs139675596, rs398122866, rs793888508, rs1596763347, rs1596988259, rs312262830, rs386833749, rs386833751, rs386833752, rs386833757, rs386833760, rs11230683, rs386834044, rs386834148, rs386834152, rs386834153, rs386834157, rs386834158, rs386834180, rs386834182, rs386834202, rs386834205, rs397514726, rs397514753, rs397514754, rs398124546, rs62640570, rs62640581, rs62640572, rs281865189, rs587777138, rs587777139, rs587777140, rs587777141, rs587777142, rs587777143, rs375113643, rs1554562278, rs587777145, rs587777146, rs537456518, rs587777156, rs377177061, rs587783013, rs587783014, rs587783016, rs606231259, rs375009168, rs200407856, rs727503853, rs730882231, rs730882217, rs730882221, rs778149316, rs386834043, rs786205568, rs777686211, rs794729226, rs794729195, rs534542684, rs757350052, rs796052128, rs770566897, rs796052129, rs797045104, rs764719093, rs797045437, rs797045224, rs797045223, rs797046039, rs760830696, rs797045918, rs775883520, rs863225149, rs762998472, rs781252161, rs754221308, rs200904521, rs863225178, rs773881370, rs370880399, rs863225173, rs863225171, rs863225172, rs779823379, rs763735590, rs386833759, rs863225176, rs863225168, rs863225179, rs201502401, rs863225174, rs374144275, rs863225154, rs770758833, rs863225153, rs141507441, rs863225155, rs1554064102, rs775263897, rs863225152, rs147416429, rs749523755, rs863225159, rs863225156, rs768675259, rs863225157, rs141153181, rs863225161, rs863225162, rs773362418, rs863225166, rs863225165, rs863225164, rs776886962, rs863225163, rs863225158, rs530569572, rs779680371, rs756856188, rs863225135, rs863225131, rs863225146, rs863225139, rs372659908, rs863225140, rs755407014, rs863225134, rs863225136, rs776093293, rs863225145, rs772989270, rs863225147, rs541041911, rs764412921, rs863225132, rs863225148, rs863225137, rs863225141, rs371637724, rs777668842, rs863225143, rs753085250, rs863225133, rs753874898, rs863225142, rs863225138, rs863225192, rs863225194, rs374703898, rs863225193, rs771203308, rs761382780, rs863225191, rs863225190, rs773954226, rs751309268, rs863225226, rs863225229, rs863225227, rs863225232, rs863225237, rs863225235, rs863225231, rs116647652, rs863225228, rs863225225, rs751517725, rs863225240, rs863225230, rs863225239, rs863225236, rs863225200, rs745688122, rs755459875, rs863225222, rs201010803, rs863225187, rs771454167, rs779262951, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs727503855, rs863225186, rs863225185, rs758550675, rs863225188, rs201097695, rs869312856, rs863225203, rs540255320, rs863225219, rs778533826, rs863225215, rs863225216, rs863225218, rs863225217, rs369488112, rs754279998, rs750436680, rs863225150, rs863225211, rs863225212, rs863225425, rs863225426, rs864309712, rs869025276, rs869025277, rs374574638, rs869025278, rs751962801, rs749435317, rs886038200, rs886038203, rs886038204, rs886038206, rs149170427, rs886039465, rs886039436, rs764109067, rs886039794, rs886039810, rs886039808, rs886039809, rs781848162, rs780225183, rs886042153, rs373604132, rs376974221, rs886044058, rs1057516038, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs865870355, rs775043799, rs1057518822, rs1057519442, rs556808514, rs756789619, rs1057520085, rs755097302, rs1060499781, rs757208121, rs1064795687, rs777464278, rs985118235, rs751128300, rs142759730, rs770770257, rs200444162, rs1554084360, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs749421099, rs1131691889, rs369523378, rs1334483830, rs1402669959, rs1554614893, rs867342730, rs781670422, rs1555218898, rs1555616593, rs555421894, rs1554104276, rs1554102026, rs1554103267, rs1554852272, rs987735817, rs1555208870, rs750696284, rs1021950925, rs779450345, rs1456714047, rs1242532564, rs1555497891, rs1553773296, rs780910490, rs1554117456, rs766572502, rs1553827236, rs1189289587, rs372048855, rs776094913, rs1554604482, rs747025617, rs771866500, rs1392635342, rs375170572, rs1560002959, rs1380418532, rs756276537, rs1565822519, rs1563720581, rs200063331, rs753884599, rs776901858, rs1560184664, rs1559307932, rs1565088283, rs1561601398, rs1017750255, rs1563672487, rs144610914, rs539010725, rs777215595, rs752472169, rs972221242, rs1445957469, rs1482303814, rs561598805, rs1592833648, rs1465414886, rs1567800920, rs1577396376, rs751823180, rs775449384, rs746415983, rs587783017, rs778030031, rs751477523, rs751444506, rs187245292, rs1574587553, rs1584867379, rs1574582671, rs1586336362, rs1484807480, rs1305821156, rs1280425167, rs1583179845, rs1583276758, rs1586074742, rs1039146791, rs1592836704, rs1592639588, rs1592668925, rs1434632102, rs1594219498, rs1589150410, rs1259897171, rs1588830568, rs1592784618, rs1579888631, rs1580084520, rs1580686235, rs1221464366, rs1595050325, rs142375551, rs1593376626, rs1359437084, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs1336317768, rs756752153, rs1825358020, rs1375090095, rs761907569, rs770126103, rs1200131247, rs542206983, rs80034299, rs1320076769, rs752197734, rs901508284	16415886, 17397051
Meckel syndrome	Meckel syndrome type 1	rs201108965, rs386833831, rs386833830, rs116358011, rs118204052, rs121918201, rs121918202, rs121918203, rs137852835, rs267606719, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187, rs137853108, rs267607119, rs730880323, rs386834052, rs199874059, rs1487082103, rs374349989, rs143149764, rs786205126, rs386833745, rs386833746, rs386833747, rs386833748, rs386833749, rs386833750, rs386833751, rs386833752, rs386833753, rs386833754, rs386833755, rs386833756, rs386833757, rs386833760, rs386833762, rs386833763, rs386833765, rs11230683, rs386833998, rs386834041, rs386834042, rs386834044, rs386834045, rs386834046, rs386834047, rs386834049, rs386834050, rs201933838, rs386834051, rs386834148, rs386834149, rs386834150, rs386834151, rs386834152, rs386834153, rs62640570, rs386834155, rs386834156, rs386834157, rs386834158, rs386834159, rs386834180, rs386834181, rs386834182, rs386834183, rs386834184, rs386834185, rs386834186, rs386834188, rs386834190, rs386834191, rs386834194, rs386834195, rs386834196, rs386834197, rs386834198, rs386834199, rs386834201, rs386834202, rs386834203, rs386834205, rs386834206, rs386834208, rs397514753, rs397514754, rs377177061, rs386834043, rs756368560, rs797046040, rs760830696, rs797045706, rs779823379, rs386833759, rs749439750, rs539400286, rs863225186, rs863225185, rs758550675, rs749435317, rs375278294, rs886039792, rs886039791, rs886039805, rs886039803, rs1057517498, rs1057517528, rs1057517512, rs767384710, rs865870355, rs775043799, rs763762899, rs1555220638, rs1131692180, rs1555525895, rs1415483600, rs762668200, rs1555220625, rs758593134, rs1369768287, rs1555213204, rs765468645, rs747025617, rs751361090, rs1555599412, rs375170572, rs1560184664, rs773740057, rs1213286417, rs1388769907, rs768237094, rs1209421607, rs1577406415, rs763473957, rs1568484575, rs781310385, rs762633090	16415886, 17397051
Meckel-gruber syndrome	Meckel-Gruber syndrome	rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792, rs886039791, rs886039804, rs886039805, rs886039806, rs886039803, rs886039793, rs765468645, rs1598057395, rs768237094	17397051

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		26634245	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Bronchiolitis Obliterans Syndrome	Associate	22806177
Dental Caries	Associate	21940522, 39543892
Diabetic Angiopathies	Associate	39519313
Dry Eye Syndromes	Associate	29234088
Hereditary Breast and Ovarian Cancer Syndrome	Associate	10994878
Meibomian Gland Dysfunction	Associate	29234088
Melanoma	Associate	91379
Multiple Sclerosis	Associate	37299978
Pulmonary Disease Chronic Obstructive	Associate	27814717