SOST (sclerostin)

Gene

• Entrez ID: 50964
• Gene name: Sclerostin
• Gene symbol: SOST
• Synonyms (NCBI Gene): CDD, DAND6, SOST1, VBCH
• Disease Acronyms (UniProt): CDD, SOST1, VBCH
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894644	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894645	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs387906320	G>A	Pathogenic	Stop gained, coding sequence variant
rs387907169	C>A,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006748	hsa-miR-218-5p	Luciferase reporter assay	21501592
MIRT006748	hsa-miR-218-5p	Luciferase reporter assay	21501592
MIRT006748	hsa-miR-218-5p	Luciferase reporter assay	21501592
MIRT006748	hsa-miR-218-5p	Luciferase reporter assay	23060446
MIRT007117	hsa-miR-204-5p	Luciferase reporter assay	23472141
MIRT018098	hsa-miR-335-5p	Microarray	18185580
MIRT006748	hsa-miR-218-5p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	27738322
MIRT006748	hsa-miR-218-5p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	27738322
MIRT1380091	hsa-miR-1224-3p	CLIP-seq
MIRT1380092	hsa-miR-1229	CLIP-seq
MIRT1380093	hsa-miR-1260	CLIP-seq
MIRT1380094	hsa-miR-1260b	CLIP-seq
MIRT1380095	hsa-miR-1280	CLIP-seq
MIRT1380096	hsa-miR-1298	CLIP-seq
MIRT1380097	hsa-miR-1470	CLIP-seq
MIRT1380098	hsa-miR-188-5p	CLIP-seq
MIRT1380099	hsa-miR-1913	CLIP-seq
MIRT1380100	hsa-miR-324-3p	CLIP-seq
MIRT1380101	hsa-miR-4641	CLIP-seq
MIRT1380102	hsa-miR-4667-3p	CLIP-seq
MIRT1380103	hsa-miR-4753-3p	CLIP-seq
MIRT1380104	hsa-miR-4759	CLIP-seq
MIRT1380105	hsa-miR-4768-5p	CLIP-seq
MIRT1380106	hsa-miR-532-3p	CLIP-seq
MIRT2113642	hsa-miR-146b-3p	CLIP-seq
MIRT2113643	hsa-miR-3173-5p	CLIP-seq
MIRT2113644	hsa-miR-3918	CLIP-seq
MIRT2113645	hsa-miR-3940-5p	CLIP-seq
MIRT2113646	hsa-miR-4292	CLIP-seq
MIRT2113647	hsa-miR-4507	CLIP-seq
MIRT2113648	hsa-miR-4707-3p	CLIP-seq
MIRT2113649	hsa-miR-491-5p	CLIP-seq
MIRT2113650	hsa-miR-874	CLIP-seq
MIRT2336554	hsa-miR-1205	CLIP-seq
MIRT2336555	hsa-miR-1289	CLIP-seq
MIRT2336556	hsa-miR-2682	CLIP-seq
MIRT2336557	hsa-miR-3198	CLIP-seq
MIRT2336558	hsa-miR-4294	CLIP-seq
MIRT2336559	hsa-miR-4309	CLIP-seq
MIRT2336560	hsa-miR-449c	CLIP-seq
MIRT2336561	hsa-miR-645	CLIP-seq
MIRT2336562	hsa-miR-940	CLIP-seq
MIRT1380092	hsa-miR-1229	CLIP-seq
MIRT1380096	hsa-miR-1298	CLIP-seq
MIRT1380103	hsa-miR-4753-3p	CLIP-seq
MIRT1380105	hsa-miR-4768-5p	CLIP-seq
MIRT2394955	hsa-miR-664	CLIP-seq
MIRT2440720	hsa-miR-1236	CLIP-seq
MIRT1380103	hsa-miR-4753-3p	CLIP-seq
MIRT2440721	hsa-miR-942	CLIP-seq
MIRT2440720	hsa-miR-1236	CLIP-seq
MIRT1380103	hsa-miR-4753-3p	CLIP-seq
MIRT2440721	hsa-miR-942	CLIP-seq
MIRT2440720	hsa-miR-1236	CLIP-seq
MIRT1380103	hsa-miR-4753-3p	CLIP-seq
MIRT2440721	hsa-miR-942	CLIP-seq
MIRT2440720	hsa-miR-1236	CLIP-seq
MIRT1380103	hsa-miR-4753-3p	CLIP-seq
MIRT2440721	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MEF2A	Repression	17696759
MEF2C	Repression	17696759
MEF2D	Repression	17696759

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15908424, 21471202, 21944579, 28514442, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005794	Component	Golgi apparatus	IEA
GO:0008134	Function	Transcription factor binding	IDA	17696759
GO:0008201	Function	Heparin binding	IEA
GO:0009612	Process	Response to mechanical stimulus	IEP	21723865
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IBA	21873635
GO:0030279	Process	Negative regulation of ossification	NAS	11181578, 17696759
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA	21873635
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	14633986
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	15908424
GO:0032991	Component	Protein-containing complex	IEA
GO:0036122	Function	BMP binding	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	17696759
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IDA	17696759
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	15908424
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS

Other IDs

• MIM: 605740
• HGNC: 13771
• e!Ensembl: ENSG00000167941

Protein

• UniProt ID: Q9BQB4
• Protein name: Sclerostin
• Protein function: Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.
• PDB: 2K8P, 3SOV, 6L6R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05463	Sclerostin	1 → 210	Sclerostin (SOST)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed at low levels with highest levels in bone, cartilage, kidney, liver, bone marrow and primary osteoblasts differentiated for 21 days. Detected in the subendothelial layer of the aortic intima (at protein level). {ECO:00
• Sequence:

  MQLPLALCLVCLLVHTAFRVVEGQGWQAFKNDATEIIPELGEYPEPPPELENNKTMNRAE
  NGGRPPHHPFETKDVSEYSCRELHFTRYVTDGPCRSAKPVTELVCSGQCGPARLLPNAIG
  RGKWWRPSGPDFRCIPDRYRAQRVQLLCPGGEAPRARKVRLVASCKCKRLTRFHNQSELK
  DFGTEAARPQKGRKPRPRARSAKANQAELENAY

• Sequence length: 213

Pathways

KEGG:

Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action

Reactome:

Negative regulation of TCF-dependent signaling by WNT ligand antagonists

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Diaphyseal dysplasia	Camurati-Engelmann Syndrome	rs104894719, rs104894720, rs104894721, rs111033611, rs104894722, rs1599893542
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Melnick-needles syndrome	Melnick-Needles Syndrome	rs28935472, rs28935473
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Schwartz-jampel syndrome	Schwartz-Jampel Syndrome	rs886039909, rs927473035, rs1572304438, rs1572356343
Sclerosteosis	Sclerosteosis, SCLEROSTEOSIS 1	rs387906320, rs104894644, rs104894645, rs387906884	20583295, 11181578, 11179006
Spondyloenchondrodysplasia	Spondyloepiphyseal Dysplasia Tarda, X-Linked	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880, rs121912881, rs786200938, rs397514718, rs786200939, rs397514719, rs397514720, rs397514723, rs397514724, rs786200943, rs747171013, rs886039542, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs769540174, rs1554022725, rs1555168505, rs1316347883, rs771866012, rs1553151294, rs1416783446, rs1565460853, rs771258750, rs1226321681, rs1294100541, rs1564532120, rs113683179, rs1597675888, rs1597675890, rs1202786652, rs377527583, rs1603225182, rs2085516391, rs934768094, rs2058757423, rs1589509307, rs771336246
Spondyloepiphyseal dysplasia	Spondyloepiphyseal Dysplasia	rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099, rs869312907, rs886041895, rs760093841, rs374379931, rs1471554906, rs1567185220, rs1567186585, rs1592198747, rs1239366051, rs1592197682

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Craniodiaphyseal Dysplasia	craniodiaphyseal dysplasia, autosomal dominant, craniodiaphyseal dysplasia			GenCC
Hyperostosis Of Skull	hyperostosis corticalis generalisata			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acromegaly	Inhibit	39741885
Adrenal Insufficiency	Stimulate	30575924
Amyotrophic Lateral Sclerosis	Inhibit	25811776
Aortic Aneurysm Familial Abdominal 1	Associate	17634102
Aortic Valve Calcification of	Stimulate	23288857, 24112318
Arthritis Juvenile	Stimulate	25280749
Arthritis Rheumatoid	Associate	25837853, 30538782, 30880318
Atherosclerosis	Stimulate	23288857
Atherosclerosis	Associate	27001371, 29303699, 30403705, 40731833
Axial Spondyloarthritis	Associate	29303699
Bone Diseases	Associate	17052975, 21164019, 22575440, 22801952, 25155887, 25493951, 26448366, 26749312, 27001371, 27019303, 28493902, 28594289, 28720522, 29550267, 30496210, 30584645, 35617338, 38247829
Bone Diseases	Inhibit	23165952, 26546060, 36506070
Bone Diseases Developmental	Associate	20336693
Bone Diseases Metabolic	Associate	21543425, 23389587, 25196993, 27744012, 31354894, 32777114, 36124027
Bone Diseases Metabolic	Stimulate	36506070
Bone Marrow Diseases	Stimulate	36506070
Bone Neoplasms	Associate	27498059, 38247829
Bone Resorption	Stimulate	32501831
Breast Neoplasms	Associate	24903965, 34718410
Calcinosis	Associate	25997652
Carcinoma Lobular	Associate	27019303
Cardiovascular Diseases	Associate	24112318, 25919636, 29303699, 36574760, 37919715, 39182106
Cardiovascular Diseases	Stimulate	29928063
Carotid Artery Diseases	Associate	30314461
Carotid Stenosis	Stimulate	23288857
Cartilage Diseases	Inhibit	28259981
Cerebral Palsy	Stimulate	28720522
Cholangitis	Associate	27019303
Cholestasis	Associate	27019303
Chronic Kidney Disease Mineral and Bone Disorder	Associate	21164019, 26749312, 27001371, 28493902
Chronic Kidney Disease Mineral and Bone Disorder	Stimulate	23430206
Colorectal Neoplasms	Associate	34718410, 38092774
Conversion Disorder	Associate	21937621
Coronary Artery Disease	Associate	24112318, 25618029
Craniodiaphyseal Dysplasia	Associate	40605263
Death	Associate	25465028, 26546060, 29928063
Diabetes Gestational	Associate	36947076
Diabetes Mellitus	Associate	24136102, 24227537, 25811776, 37925419, 39182106
Diabetes Mellitus	Stimulate	39237913
Diabetes Mellitus Type 2	Associate	23288857, 25582311, 28239825, 30547685, 36947076
Diabetes Mellitus Type 2	Stimulate	24227537, 32777114, 37919715
Diabetic Angiopathies	Inhibit	24227537
Diplopia	Associate	40605263
Disease	Stimulate	29303699
Dyslipidemias	Associate	40731833
Embolism Fat	Stimulate	25144629
Esophageal Squamous Cell Carcinoma	Associate	22364398
Familial Hypophosphatemic Rickets	Associate	36124027
Femoral Fractures Distal	Stimulate	28239825
Femoral Neck Fractures	Associate	20200987
Fibrosis	Associate	24386373
Fibrous Dysplasia of Bone	Associate	36958543
Fibrous Dysplasia Polyostotic	Associate	36958543
Focal Nodular Hyperplasia	Inhibit	18931653
Fractures Bone	Stimulate	22836717, 32777114
Fractures Bone	Inhibit	23165952
Fractures Bone	Associate	25155887, 25582311, 28239825, 33784435, 35689460
Gastrointestinal Diseases	Stimulate	38233947
Gaucher Disease	Associate	36506070
Genetic Diseases Inborn	Associate	40605263
Glomerulonephritis	Associate	37466605
Heart Valve Diseases	Associate	30575924
Hemolytic Uremic Syndrome	Stimulate	27001371
Hepatitis C	Associate	24386373
Hip Fractures	Associate	20200987, 36363523
HIV Infections	Associate	25919636
Hypercalciuria Absorptive 2	Associate	24763863
Hyperostosis Diffuse Idiopathic Skeletal	Stimulate	28153008
Hyperparathyroidism Secondary	Associate	27846800
Hypertension	Associate	29303699, 30482161, 40731833
Hypesthesia	Associate	40605263
Hypoparathyroidism	Stimulate	21937621
Hypophosphatasia	Associate	28436937
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Associate	24763863
Hypoxia	Inhibit	20336693
Hypoxia	Stimulate	28594289, 37929653
Inflammation	Associate	23062122
Juvenile osteoporosis	Inhibit	21308775
Juvenile osteoporosis	Associate	23389587
Kidney Diseases	Stimulate	31881044
Kidney Failure Chronic	Stimulate	23430206, 25118597, 30584645
Lipodystrophy Congenital Generalized	Associate	28390904
Liver Cirrhosis Alcoholic	Stimulate	34978341
Liver Cirrhosis Biliary	Associate	27019303
Lung Diseases Interstitial	Associate	38233947
Lupus Erythematosus Systemic	Inhibit	34058801
MASS syndrome	Associate	24606091, 26348019
Metabolic Syndrome	Associate	29303699
Multiple Myeloma	Associate	32501831
Musculoskeletal Abnormalities	Associate	36506070
Musculoskeletal Diseases	Stimulate	36506070
Myalgia	Associate	25280749
Myopathies Structural Congenital	Inhibit	19877044
Neoplasm Metastasis	Inhibit	18931653
Neoplasm Metastasis	Associate	38247829
Neoplasms	Associate	22364398, 27498059, 34718410, 38247829
Neoplasms Adipose Tissue	Associate	29799857
Nephrosis congenital	Stimulate	31354894
Neuroblastoma	Associate	40605263
Obesity	Associate	22362819, 22392834, 31701693
Odontogenic Cyst Calcifying	Inhibit	24178795
Ossification of Posterior Longitudinal Ligament	Stimulate	28153008
Osteitis Deformans	Stimulate	36124027
Osteoarthritis	Inhibit	19877044
Osteoarthritis	Stimulate	26071314
Osteoarthritis	Associate	28953627, 37918800
Osteoarthritis Hip	Associate	20200987, 28275825
Osteoarthritis Knee	Associate	27665782
Osteochondrodysplasias	Associate	11836356, 23074140, 40605263
Osteogenesis Imperfecta	Associate	28370407, 29044725, 36124027
Osteoporosis	Associate	17052975, 22692843, 22801952, 23430206, 24136102, 24568269, 25118597, 25155887, 26250343, 26751728, 26930606, 27498059, 29504704, 30026596, 31197079, 31526333, 31774873, 32501831, 34034718
Osteoporosis	Inhibit	21452281, 22575440, 35705746, 39389544
Osteoporosis	Stimulate	36506070
Osteoporosis pseudoglioma syndrome	Associate	35237949
Osteoporotic Fractures	Associate	22836717, 31526333, 35705746
Overweight	Stimulate	31701693
Pain	Associate	36506070
Parathyroid Diseases	Associate	21937621
Periodontitis	Inhibit	32501831
Periodontitis	Associate	37925419, 40127057
Peripheral Arterial Disease	Stimulate	40731833
Plaque Atherosclerotic	Associate	24178795
Plaque Atherosclerotic	Stimulate	30314461
Prediabetic State	Associate	31701693
Prostatic Neoplasms	Associate	18931653, 30116403
Proteinuria	Associate	37466605
Pulmonary Arterial Hypertension	Associate	38233947
Pulmonary Disease Chronic Obstructive	Inhibit	35963832
Renal Insufficiency	Associate	36574760
Renal Insufficiency Chronic	Stimulate	25118597, 26390291, 30075054
Renal Insufficiency Chronic	Associate	26749312, 27312441, 29048521, 30575924, 32816133, 36970967
Sarcoma	Associate	27498059
Scleroderma Systemic	Stimulate	38233947
Sclerosteosis	Associate	11836356, 17052975, 21786318, 25984533, 26751728, 35052419, 35208525, 40605263
Sjogren's Syndrome	Inhibit	34058801
Spinal Cord Injuries	Associate	22006831, 22575440, 22801952, 25484108
Spondylitis Ankylosing	Associate	19877044, 23062122, 29854850
Spondylitis Ankylosing	Stimulate	23509994
Squamous Cell Carcinoma of Head and Neck	Inhibit	37970929
Squamous Cell Carcinoma of Head and Neck	Associate	38247829
Stiff Skin Syndrome	Associate	27082570, 30482161, 30547685
Stroke	Stimulate	30496210
Symphalangism C. S. Lewis Type	Associate	30547685
Tooth Resorption	Associate	24763863
Turner Syndrome	Associate	35237949
Urinary Bladder Neoplasms	Associate	38172792
Uterine Cervical Neoplasms	Associate	30344797
Vascular Calcification	Associate	24178795, 25465028, 25618029, 35313524, 36574760, 37179214, 40731833
Vascular Calcification	Inhibit	26546060
Vascular Diseases	Associate	27001371
Ventricular Remodeling	Stimulate	32701210
Weight Loss	Stimulate	22392834