ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)

Gene

• Entrez ID: 81794
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 10
• Gene symbol: ADAMTS10
• Synonyms (NCBI Gene): ADAM-TS10, ADAMTS-10, WMS, WMS1
• Disease Acronyms (UniProt): WMS1
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434357	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs121434358	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs121434359	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs267606636	C>T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs267606637	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906266	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs431825170	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs886041104	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886041105	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT766323	hsa-miR-3173-3p	CLIP-seq
MIRT766324	hsa-miR-4723-5p	CLIP-seq
MIRT766325	hsa-miR-4779	CLIP-seq
MIRT1925780	hsa-miR-1207-5p	CLIP-seq
MIRT1925781	hsa-miR-4763-3p	CLIP-seq
MIRT1925782	hsa-miR-637	CLIP-seq
MIRT1925780	hsa-miR-1207-5p	CLIP-seq
MIRT2383886	hsa-miR-296-5p	CLIP-seq
MIRT2383887	hsa-miR-4258	CLIP-seq
MIRT2383888	hsa-miR-4436b-3p	CLIP-seq
MIRT1925781	hsa-miR-4763-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IDA	21402694
GO:0003674	Function	Molecular_function	ND
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21402694, 29758265
GO:0006508	Process	Proteolysis	IEA
GO:0008150	Process	Biological_process	ND
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	IDA	21402694

Other IDs

• MIM: 608990
• HGNC: 13201
• e!Ensembl: ENSG00000142303

Protein

• UniProt ID: Q9H324
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 10 (ADAM-TS 10) (ADAM-TS10) (ADAMTS-10) (EC 3.4.24.-)
• Protein function: Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	40 → 180	Reprolysin family propeptide	Family
  PF01421	Reprolysin	239 → 457	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	469 → 537	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	551 → 601	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	706 → 818	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	829 → 884		Domain
  PF19030	TSP1_ADAMTS	888 → 944		Domain
  PF19030	TSP1_ADAMTS	948 → 1002		Domain
  PF19030	TSP1_ADAMTS	1007 → 1057		Domain
  PF08686	PLAC	1069 → 1101	PLAC (protease and lacunin) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in adult tissues. {ECO:0000269|PubMed:15355968}.
• Sequence:

  MAPACQILRWALALGLGLMFEVTHAFRSQDEFLSSLESYEIAFPTRVDHNGALLAFSPPP
  PRRQRRGTGATAESRLFYKVASPSTHFLLNLTRSSRLLAGHVSVEYWTREGLAWQRAARP
  HCLYAGHLQGQASTSHVAISTCGGLHGLIVADEEEYLIEPLHGGPKGSRSPEESGPHVVY
  KRSSLRHPHLDTACGVRDEKPWKGRPWWLRTLKPPPARPLGNETERGQPGLKRSVSRERY
  VETLVVADKMMVAYHGRRDVEQYVLAIMNIVAKLFQDSSLGSTVNILVTRLILLTEDQPT
  LEITHHAGKSLDSFCKWQKSIVNHSGHGNAIPENGVANHDTAVLITRYDICIYKNKPCGT
  LGLAPVGGMCERERSCSVNEDIGLATAFTIAHEIGHTFGMNHDGVGNSCGARGQDPAKLM
  AAHITMKTNPFVWSSCSRDYITSFLDSGLGLCLNNRPPRQDFVYPTVAPGQAYDADEQCR
  FQHGVKSRQCKYGEVCSELWCLSKSNRCITNSIPAAEGTLCQTHTIDKGWCYKRVCVPFG
  SRPEGVDGAWGPWTPWGDCSRTCGGGVSSSSRHCDSPRPTIGGKYCLGERRRHRSCNTDD
  CPPGSQDFREVQCSEFDSIPFRGKFYKWKTYRGGGVKACSLTCLAEGFNFYTERAAAVVD
  GTPCRPDTVDICVSGECKHVGCDRVLGSDLREDKCRVCGGDGSACETIEGVFSPASPGAG
  YEDVVWIPKGSVHIFIQDLNLSLSHLALKGDQESLLLEGLPGTPQPHRLPLAGTTFQLRQ
  GPDQVQSLEALGPINASLIVMVLARTELPALRYRFNAPIARDSLPPYSWHYAPWTKCSAQ
  CAGGSQVQAVECRNQLDSSAVAPHYCSAHSKLPKRQRACNTEPCPPDWVVGNWSLCSRSC
  DAGVRSRSVVCQRRVSAAEEKALDDSACPQPRPPVLEACHGPTCPPEWAALDWSECTPSC
  GPGLRHRVVLCKSADHRATLPPAHCSPAAKPPATMRCNLRRCPPARWVAGEWGECSAQCG
  VGQRQRSVRCTSHTGQASHECTEALRPPTTQQCEAKCDSPTPGDGPEECKDVNKVAYCPL
  VLKFQFCSRAYFRQMCCKTCHGH

• Sequence length: 1103

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Carpal tunnel syndrome	Carpal Tunnel Syndrome	rs28936368, rs121918088	30833571
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
Ectopia lentis	Ectopia Lentis	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Mental retardation	Mild Mental Retardation	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
Microspherophakia	Microspherophakia	rs121918355, rs777661862, rs1566628109, rs1566636728, rs387907174, rs387907175
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
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
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Weill-marchesani syndrome	Weill-Marchesani syndrome, Weill-Marchesani Syndrome, Autosomal Recessive, Weill-Marchesani Syndrome, Autosomal Dominant, WEILL-MARCHESANI SYNDROME 1	rs121434357, rs431825170, rs387906266, rs121434359, rs267606636, rs267606637, rs387906291, rs267606638, rs749116256, rs1555396783, rs137854856, rs267606798, rs727503056, rs1555501030, rs1160509052, rs363806, rs2043337073	15368195, 18567016, 30060141

Unknown
Disease term	Disease name	Evidence	References	Source
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Brachydactyly	Associate	25469541
Breast Neoplasms	Associate	25261644
Carpal Tunnel Syndrome	Associate	30833571
Dwarfism stiff joint ocular abnormalities	Associate	25469541
Ectopia Lentis	Associate	19836009
Glaucoma	Associate	19836009
Growth Disorders	Associate	19836009, 25469541
Microspherophakia	Associate	25469541
Myopia	Associate	19836009
Weill Marchesani Syndrome	Associate	15368195, 19836009, 21402694, 24940034, 25469541, 27779234