PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)

Gene

• Entrez ID: 5352
• Gene name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
• Gene symbol: PLOD2
• Synonyms (NCBI Gene): BRKS2, LH2, TLH
• Disease Acronyms (UniProt): BRKS2
• Chromosome: 3
• Chromosome location: 3q24
• Summary: The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptide

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115199093	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs121434459	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121434460	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121434461	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs145809663	T>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, non coding transcript variant
rs749709000	G>-,GG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs778360818	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs893004444	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057524250	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057524251	A>G	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024186	hsa-miR-221-3p	Sequencing	20371350
MIRT027724	hsa-miR-98-5p	Microarray	19088304
MIRT029832	hsa-miR-26b-5p	Microarray	19088304
MIRT047089	hsa-miR-183-5p	CLASH	23622248
MIRT040384	hsa-miR-615-3p	CLASH	23622248
MIRT039306	hsa-miR-425-5p	CLASH	23622248
MIRT052752	hsa-miR-1260b	CLASH	23622248
MIRT439946	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439946	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT1243030	hsa-miR-1197	CLIP-seq
MIRT1243031	hsa-miR-4474-5p	CLIP-seq
MIRT1243032	hsa-miR-4477b	CLIP-seq
MIRT1243033	hsa-miR-548ac	CLIP-seq
MIRT1243034	hsa-miR-548d-3p	CLIP-seq
MIRT1243035	hsa-miR-548z	CLIP-seq
MIRT1243036	hsa-miR-649	CLIP-seq
MIRT1243037	hsa-miR-3685	CLIP-seq
MIRT1243038	hsa-miR-384	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq
MIRT1552359	hsa-miR-1297	CLIP-seq
MIRT1552360	hsa-miR-1305	CLIP-seq
MIRT1552361	hsa-miR-2278	CLIP-seq
MIRT1552362	hsa-miR-24	CLIP-seq
MIRT1552363	hsa-miR-26a	CLIP-seq
MIRT1552364	hsa-miR-26b	CLIP-seq
MIRT1552365	hsa-miR-3065-5p	CLIP-seq
MIRT1552366	hsa-miR-3136-3p	CLIP-seq
MIRT1552367	hsa-miR-3145-3p	CLIP-seq
MIRT1552368	hsa-miR-3166	CLIP-seq
MIRT1552369	hsa-miR-323-3p	CLIP-seq
MIRT1552370	hsa-miR-328	CLIP-seq
MIRT1552371	hsa-miR-338-5p	CLIP-seq
MIRT1552372	hsa-miR-3609	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1552375	hsa-miR-382	CLIP-seq
MIRT1552376	hsa-miR-4436b-5p	CLIP-seq
MIRT1552377	hsa-miR-4465	CLIP-seq
MIRT1552378	hsa-miR-4468	CLIP-seq
MIRT1243032	hsa-miR-4477b	CLIP-seq
MIRT1552379	hsa-miR-4670-3p	CLIP-seq
MIRT1552380	hsa-miR-4714-3p	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT1552381	hsa-miR-498	CLIP-seq
MIRT1552382	hsa-miR-520g	CLIP-seq
MIRT1552383	hsa-miR-520h	CLIP-seq
MIRT1243033	hsa-miR-548ac	CLIP-seq
MIRT1552384	hsa-miR-548ae	CLIP-seq
MIRT1552385	hsa-miR-548ah	CLIP-seq
MIRT1552386	hsa-miR-548aj	CLIP-seq
MIRT1552387	hsa-miR-548am	CLIP-seq
MIRT1243034	hsa-miR-548d-3p	CLIP-seq
MIRT1552388	hsa-miR-548x	CLIP-seq
MIRT1243035	hsa-miR-548z	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq
MIRT2071826	hsa-miR-3163	CLIP-seq
MIRT2071827	hsa-miR-3978	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1552359	hsa-miR-1297	CLIP-seq
MIRT1552360	hsa-miR-1305	CLIP-seq
MIRT1552363	hsa-miR-26a	CLIP-seq
MIRT1552364	hsa-miR-26b	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1552377	hsa-miR-4465	CLIP-seq
MIRT1552381	hsa-miR-498	CLIP-seq
MIRT2595762	hsa-miR-200b	CLIP-seq
MIRT2595763	hsa-miR-200c	CLIP-seq
MIRT2595764	hsa-miR-3117-5p	CLIP-seq
MIRT2595765	hsa-miR-3161	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1243037	hsa-miR-3685	CLIP-seq
MIRT2595766	hsa-miR-3688-3p	CLIP-seq
MIRT2595767	hsa-miR-369-3p	CLIP-seq
MIRT1243038	hsa-miR-384	CLIP-seq
MIRT2071827	hsa-miR-3978	CLIP-seq
MIRT2595768	hsa-miR-429	CLIP-seq
MIRT1552376	hsa-miR-4436b-5p	CLIP-seq
MIRT2595769	hsa-miR-4694-3p	CLIP-seq
MIRT2595770	hsa-miR-4699-5p	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT2595771	hsa-miR-7	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq
MIRT2595762	hsa-miR-200b	CLIP-seq
MIRT2595763	hsa-miR-200c	CLIP-seq
MIRT2595764	hsa-miR-3117-5p	CLIP-seq
MIRT2595765	hsa-miR-3161	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1243037	hsa-miR-3685	CLIP-seq
MIRT2595766	hsa-miR-3688-3p	CLIP-seq
MIRT2595767	hsa-miR-369-3p	CLIP-seq
MIRT1243038	hsa-miR-384	CLIP-seq
MIRT2071827	hsa-miR-3978	CLIP-seq
MIRT2595768	hsa-miR-429	CLIP-seq
MIRT1552376	hsa-miR-4436b-5p	CLIP-seq
MIRT2595769	hsa-miR-4694-3p	CLIP-seq
MIRT2595770	hsa-miR-4699-5p	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT2595771	hsa-miR-7	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEP	15174142
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006464	Process	Cellular protein modification process	TAS	9054364
GO:0006493	Process	Protein O-linked glycosylation	IDA	10934207
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IBA	21873635
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IDA	10934207
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	ISS	9582318
GO:0017185	Process	Peptidyl-lysine hydroxylation	IBA	21873635
GO:0017185	Process	Peptidyl-lysine hydroxylation	IDA	10934207
GO:0017185	Process	Peptidyl-lysine hydroxylation	ISS	9582318
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030867	Component	Rough endoplasmic reticulum membrane	IEA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0033823	Function	Procollagen glucosyltransferase activity	IDA	10934207
GO:0046947	Process	Hydroxylysine biosynthetic process	IDA	10934207
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 601865
• HGNC: 9082
• e!Ensembl: ENSG00000152952

Protein

• UniProt ID: O00469
• Protein name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (EC 1.14.11.4) (Lysyl hydroxylase 2) (LH2)
• Protein function: Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. {ECO:0000250|UniProtKB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03171	2OG-FeII_Oxy	645 → 737	2OG-Fe(II) oxygenase superfamily	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pancreas and muscle. Isoform 1 and isoform 2 are expressed in the majority of the examined cell types. Isoform 2 is specifically expressed in skin, lung, dura and aorta. {ECO:0000269|PubMed:10372558}.
• Sequence:

  MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAK
  YFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAG
  GPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIV
  QQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARA
  KNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSI
  GVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIV
  GPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTR
  HGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERN
  YFVRDKLDPDMALCRNAREMGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDW
  KEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRIS
  GGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQ
  RSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEG
  LPVKNGTRYIAVSFIDP

• Sequence length: 737

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

Collagen biosynthesis and modifying enzymes

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Degenerative polyarthritis, Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066, 19565504
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Bruck syndrome	Bruck syndrome, Bruck syndrome 2, Bruck syndrome 1	rs121434459, rs121434460, rs121434461, rs1567856056, rs387906960, rs1555616552, rs749709000, rs397509383, rs397514674, rs794727669, rs869320752, rs780770356, rs137853883, rs1567855132	15523624, 22689593, 12881513
Osteogenesis imperfecta	Osteogenesis Imperfecta	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	22689593
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Buruli Ulcer	Buruli Ulcer			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	29072684
Breast Neoplasms	Associate	33257795, 37155842
Bruck syndrome 1	Associate	25238597, 27298363, 29178448, 31472299, 39769143, 9927692
Bruck syndrome 1	Inhibit	31472299
Bruck syndrome 2	Associate	20839288, 29178448, 31472299
Bruck syndrome 2	Stimulate	31472299
Calcinosis Cutis	Associate	37146419
Camptodactyly 1	Associate	29178448
Carcinogenesis	Associate	21338529, 34258263, 36071678
Carcinoma Hepatocellular	Associate	35560794, 38052560
Carcinoma Non Small Cell Lung	Associate	29072684
Carcinoma Pancreatic Ductal	Associate	32958051
Carcinoma Renal Cell	Associate	26983694, 31446433, 32986937, 33287763, 33836688, 34388114, 36901940, 37328520, 38008826
Carcinoma Squamous Cell	Associate	33887877
Cleft Palate	Associate	29178448
Colorectal Neoplasms	Associate	29453334, 36071678
Colorectal Neoplasms	Stimulate	37227305
Endometrial Neoplasms	Associate	37227305
Esophageal Squamous Cell Carcinoma	Associate	36042592
Fibrosis	Associate	30303512, 9927692
Fractures Bone	Associate	29178448
Glioblastoma	Associate	16254489, 35682709
Glioma	Associate	28410212
Haspeslagh Fryns Muelenaere syndrome	Associate	29178448
Hypoxia	Associate	23423382, 37452322, 40500522
Hypoxia	Stimulate	28410212, 37146419, 38008826
Hypoxia Brain	Associate	23423382
Hypoxia Brain	Stimulate	37246768, 38008826
Kidney Neoplasms	Associate	33287763
Kyphomelic dysplasia	Associate	29178448
Laryngeal Neoplasms	Associate	32432748
Lymphatic Metastasis	Associate	34944486, 36042592
Neoplasm Invasiveness	Associate	34944486
Neoplasm Metastasis	Associate	26983694, 29072684, 33887877, 34944486, 36042592, 38171245
Neoplasm Metastasis	Stimulate	37227305
Neoplasms	Stimulate	21338529, 34257533
Neoplasms	Associate	23319410, 26983694, 27310702, 29072684, 31446433, 33887877, 34258263, 34944486, 35682709, 36042592, 36901940, 37155842, 37227305
Osteogenesis Imperfecta	Associate	21829228, 29178448
Osteosarcoma	Associate	37227305
Protein S Deficiency	Associate	38052560
Scleroderma Systemic	Stimulate	37246768
Soft Tissue Injuries	Associate	35627171
Squamous Cell Carcinoma of Head and Neck	Associate	33887877, 34257533, 34565301, 34944486, 37452322
Stomach Neoplasms	Associate	34281542, 35789544, 37227305
Thrombosis	Associate	37328520
Urinary Bladder Neoplasms	Associate	27310702
Uterine Cervical Neoplasms	Associate	21338529, 32258155, 34116656, 34258263, 36281082