PLOD3 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 3)

Gene

• Entrez ID: 8985
• Gene name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
• Gene symbol: PLOD3
• Synonyms: BCARD, LH3
• Chromosome: 7
• Chromosome location: 7q22.1
• 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
rs121434414	T>C	Pathogenic	Missense variant, coding sequence variant
rs377320080	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs748105435	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs786205872	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562894320	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000169	hsa-miR-21-5p	Luciferase reporter assay, Quantitative proteomic approach	19253296
MIRT002723	hsa-miR-124-3p	Microarray	15685193
MIRT002723	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT002723	hsa-miR-124-3p	Microarray	15685193
MIRT036230	hsa-miR-320b	CLASH	23622248
MIRT1243042	hsa-miR-1200	CLIP-seq
MIRT1243043	hsa-miR-1207-5p	CLIP-seq
MIRT1243044	hsa-miR-124	CLIP-seq
MIRT1243045	hsa-miR-1271	CLIP-seq
MIRT1243046	hsa-miR-1273g	CLIP-seq
MIRT1243047	hsa-miR-1289	CLIP-seq
MIRT1243048	hsa-miR-140-5p	CLIP-seq
MIRT1243049	hsa-miR-182	CLIP-seq
MIRT1243050	hsa-miR-187	CLIP-seq
MIRT1243051	hsa-miR-2355-5p	CLIP-seq
MIRT1243052	hsa-miR-3186-3p	CLIP-seq
MIRT1243053	hsa-miR-3622a-5p	CLIP-seq
MIRT1243054	hsa-miR-3664-3p	CLIP-seq
MIRT1243055	hsa-miR-3672	CLIP-seq
MIRT1243056	hsa-miR-3689a-3p	CLIP-seq
MIRT1243057	hsa-miR-3689c	CLIP-seq
MIRT1243058	hsa-miR-4269	CLIP-seq
MIRT1243059	hsa-miR-4277	CLIP-seq
MIRT1243060	hsa-miR-4300	CLIP-seq
MIRT1243061	hsa-miR-431	CLIP-seq
MIRT1243062	hsa-miR-4313	CLIP-seq
MIRT1243063	hsa-miR-4324	CLIP-seq
MIRT1243064	hsa-miR-4436b-3p	CLIP-seq
MIRT1243065	hsa-miR-4464	CLIP-seq
MIRT1243066	hsa-miR-4514	CLIP-seq
MIRT1243067	hsa-miR-4640-5p	CLIP-seq
MIRT1243068	hsa-miR-4658	CLIP-seq
MIRT1243069	hsa-miR-4680-5p	CLIP-seq
MIRT1243070	hsa-miR-4692	CLIP-seq
MIRT1243071	hsa-miR-4706	CLIP-seq
MIRT1243072	hsa-miR-4711-3p	CLIP-seq
MIRT1243073	hsa-miR-4726-5p	CLIP-seq
MIRT1243074	hsa-miR-4736	CLIP-seq
MIRT1243075	hsa-miR-4742-5p	CLIP-seq
MIRT1243076	hsa-miR-4748	CLIP-seq
MIRT1243077	hsa-miR-4749-5p	CLIP-seq
MIRT1243078	hsa-miR-4755-3p	CLIP-seq
MIRT1243079	hsa-miR-4758-5p	CLIP-seq
MIRT1243080	hsa-miR-4761-5p	CLIP-seq
MIRT1243081	hsa-miR-4763-3p	CLIP-seq
MIRT1243082	hsa-miR-4795-5p	CLIP-seq
MIRT1243083	hsa-miR-506	CLIP-seq
MIRT1243084	hsa-miR-510	CLIP-seq
MIRT1243085	hsa-miR-516a-3p	CLIP-seq
MIRT1243086	hsa-miR-544b	CLIP-seq
MIRT1243087	hsa-miR-548an	CLIP-seq
MIRT1243088	hsa-miR-563	CLIP-seq
MIRT1243089	hsa-miR-635	CLIP-seq
MIRT1243090	hsa-miR-657	CLIP-seq
MIRT1243091	hsa-miR-759	CLIP-seq
MIRT1243092	hsa-miR-873	CLIP-seq
MIRT1243093	hsa-miR-920	CLIP-seq
MIRT1243094	hsa-miR-96	CLIP-seq
MIRT1243067	hsa-miR-4640-5p	CLIP-seq
MIRT1243073	hsa-miR-4726-5p	CLIP-seq
MIRT1243078	hsa-miR-4755-3p	CLIP-seq
MIRT2456707	hsa-miR-1915	CLIP-seq
MIRT1243062	hsa-miR-4313	CLIP-seq
MIRT1243067	hsa-miR-4640-5p	CLIP-seq
MIRT2456708	hsa-miR-4726-3p	CLIP-seq
MIRT1243073	hsa-miR-4726-5p	CLIP-seq
MIRT1243078	hsa-miR-4755-3p	CLIP-seq
MIRT1243052	hsa-miR-3186-3p	CLIP-seq
MIRT1243055	hsa-miR-3672	CLIP-seq
MIRT1243047	hsa-miR-1289	CLIP-seq
MIRT2688144	hsa-miR-146b-3p	CLIP-seq
MIRT2688145	hsa-miR-1914	CLIP-seq
MIRT1243051	hsa-miR-2355-5p	CLIP-seq
MIRT2688146	hsa-miR-3150a-3p	CLIP-seq
MIRT2688147	hsa-miR-3175	CLIP-seq
MIRT1243052	hsa-miR-3186-3p	CLIP-seq
MIRT1243053	hsa-miR-3622a-5p	CLIP-seq
MIRT1243054	hsa-miR-3664-3p	CLIP-seq
MIRT1243055	hsa-miR-3672	CLIP-seq
MIRT1243058	hsa-miR-4269	CLIP-seq
MIRT1243059	hsa-miR-4277	CLIP-seq
MIRT1243066	hsa-miR-4514	CLIP-seq
MIRT1243069	hsa-miR-4680-5p	CLIP-seq
MIRT1243070	hsa-miR-4692	CLIP-seq
MIRT1243071	hsa-miR-4706	CLIP-seq
MIRT1243075	hsa-miR-4742-5p	CLIP-seq
MIRT1243077	hsa-miR-4749-5p	CLIP-seq
MIRT1243082	hsa-miR-4795-5p	CLIP-seq
MIRT2688148	hsa-miR-491-5p	CLIP-seq
MIRT1243084	hsa-miR-510	CLIP-seq
MIRT1243092	hsa-miR-873	CLIP-seq
MIRT2688149	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001886	Process	Endothelial cell morphogenesis	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 26028330, 29892012, 31515488, 32296183
GO:0005615	Component	Extracellular space	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	10934207
GO:0005783	Component	Endoplasmic reticulum	TAS	9724729
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	10934207, 27435297
GO:0005802	Component	Trans-Golgi network	IEA
GO:0006493	Process	Protein O-linked glycosylation	IMP	10934207
GO:0008104	Process	Protein localization	IEA
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IBA	21873635
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IDA	9582318, 9724729
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IMP	10934207, 18298658
GO:0017185	Process	Peptidyl-lysine hydroxylation	IBA	21873635
GO:0017185	Process	Peptidyl-lysine hydroxylation	IDA	9582318, 9724729
GO:0017185	Process	Peptidyl-lysine hydroxylation	IMP	10934207, 18298658
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IEA
GO:0032963	Process	Collagen metabolic process	IEA
GO:0033823	Function	Procollagen glucosyltransferase activity	IBA	21873635
GO:0033823	Function	Procollagen glucosyltransferase activity	IMP	10934207, 18298658
GO:0042311	Process	Vasodilation	IEA
GO:0046947	Process	Hydroxylysine biosynthetic process	IEA
GO:0048730	Process	Epidermis morphogenesis	IEA
GO:0050211	Function	Procollagen galactosyltransferase activity	IMP	18298658
GO:0050211	Function	Procollagen galactosyltransferase activity	TAS
GO:0060425	Process	Lung morphogenesis	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0070831	Process	Basement membrane assembly	IEA

Other IDs

• MIM: 603066
• HGNC: 9083
• e!Ensembl: ENSG00000106397

Protein

• UniProt ID: O60568
• Protein name: Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 [Includes: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 (EC 1.14.11.4) (Lysyl hydroxylase 3) (LH3); Procollagen glycosyltransferase (EC 2.4.1.50) (EC 2.4.1.66) (Galactosylhydr
• Protein function: Multifunctional enzyme that catalyzes a series of essential post-translational modifications on Lys residues in procollagen (PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:18834968, PubMed:30089812). Plays a redundant role in catalyzi
• PDB: 6FXK, 6FXM, 6FXR, 6FXT, 6FXX, 6FXY, 6TE3, 6TEC, 6TES, 6TEU, 6TEX, 6TEZ, 6WFV, 8ONE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03171	2OG-FeII_Oxy	648 → 738	2OG-Fe(II) oxygenase superfamily	Domain

• Sequence:

  MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITVATAETEGYLRFLRSAE
  FFNYTVRTLGLGEEWRGGDVARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAG
  SPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEVGTGKRFLNSGGFIGFATTIHQIV
  RQWKYKDDDDDQLFYTRLYLDPGLREKLSLNLDHKSRIFQNLNGALDEVVLKFDRNRVRI
  RNVAYDTLPIVVHGNGPTKLQLNYLGNYVPNGWTPEGGCGFCNQDRRTLPGGQPPPRVFL
  AVFVEQPTPFLPRFLQRLLLLDYPPDRVTLFLHNNEVFHEPHIADSWPQLQDHFSAVKLV
  GPEEALSPGEARDMAMDLCRQDPECEFYFSLDADAVLTNLQTLRILIEENRKVIAPMLSR
  HGKLWSNFWGALSPDEYYARSEDYVELVQRKRVGVWNVPYISQAYVIRGDTLRMELPQRD
  VFSGSDTDPDMAFCKSFRDKGIFLHLSNQHEFGRLLATSRYDTEHLHPDLWQIFDNPVDW
  KEQYIHENYSRALEGEGIVEQPCPDVYWFPLLSEQMCDELVAEMEHYGQWSGGRHEDSRL
  AGGYENVPTVDIHMKQVGYEDQWLQLLRTYVGPMTESLFPGYHTKARAVMNFVVRYRPDE
  QPSLRPHHDSSTFTLNVALNHKGLDYEGGGCRFLRYDCVISSPRKGWALLHPGRLTHYHE
  GLPTTWGTRYIMVSFVDP

• Sequence length: 738

Pathways

KEGG:

Lysine degradation
Other types of O-glycan biosynthesis
Metabolic pathways

Reactome:

Collagen biosynthesis and modifying enzymes

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Bone fragility with contractures, arterial rupture, and deafness	Bone Fragility with Contractures, Arterial Rupture, and Deafness	rs786205872, rs748105435, rs1562894320	18834968, 30237576, 30089812
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Connective tissue disease	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	rs5742905, rs80338688, rs80356506, rs104894800, rs104894948, rs28931614, rs121913482, rs28933068, rs121913483, rs137854464, rs121912870, rs387906980, rs587777352, rs527236145, rs189754995, rs730880214, rs794728188, rs863223852, rs745672741, rs763514968, rs1064793914, rs1085307608, rs1131691804, rs1555399144, rs1554787779, rs1555167139, rs1939205327
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Esophagus neoplasm	Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	21642993
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital clubfoot	Congenital clubfoot
Diaphragmatic eventration	Diaphragmatic Eventration
Elbow flexion contracture	Flexion contracture - elbow
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Osteopenia	Osteopenia
Rupture of artery	Rupture of artery