GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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SOST (sclerostin)

Gene

50964

Sclerostin

SOST

CDD, DAND6, SOST1, VBCH

17q21.31

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-

Show/Hide all(4)

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

Show/Hide all(59)

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

Show/Hide all(3)

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

Show/Hide all(21)

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

MIM	HGNC	e!Ensembl
605740	13771	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

Sequence

MQLPLALCLVCLLVHTAFRVVEGQGWQAFKNDATEIIPELGEYPEPPPELENNKTMNRAE
NGGRPPHHPFETKDVSEYSCRELHFTRYVTDGPCRSAKPVTELVCSGQCGPARLLPNAIG
RGKWWRPSGPDFRCIPDRYRAQRVQLLCPGGEAPRARKVRLVASCKCKRLTRFHNQSELK
DFGTEAARPQKGRKPRPRARSAKANQAELENAY

Sequence length

213

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway Parathyroid hormone synthesis, secretion and action		Negative regulation of TCF-dependent signaling by WNT ligand antagonists

Associated diseases

Show/Hide Causal Diseases (13)

Causal
Disease name	Disease term	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

Show/Hide Unknown Diseases (23)

Unknown
Disease name	Disease term	dbSNP ID	References
Mallet finger	Acquired deformity of finger
Chondrodystrophic myotonia	Schwartz-Jampel Syndrome, Type 1
Congenital anomaly of nose	Congenital anomaly of nose
Cranial nerve paralysis	Cranial nerve palsies
Craniodiaphyseal dysplasia	Craniodiaphyseal dysplasia, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)		21221996
Dwarfism	Dwarfism
Dyschondroplasias	Dyschondroplasias
Esotropia	Esotropia
Facial paralysis	Facial paralysis
Fingernail dysplasia	Fingernail dysplasia
Frontal bossing	Frontal bossing
Hyperostosis of skull	Hyperostosis corticalis generalisata
Impaired cognition	Impaired cognition
Malocclusion	Class III malocclusion
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Osteosclerosis	Osteosclerosis
Papilledema	Papilledema
Proptosis	Exophthalmos
Ptosis	Blepharoptosis, Ptosis	rs139920573
Stenosis of external auditory canal	Stenosis of external auditory canal
Syndactyly of fingers	Simple syndactyly of fingers - first web
Van buchem disease	Van Buchem disease		11836356

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