Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Acromesomelic dysplasia |
Acromesomelic dysplasia Hunter-Thompson type |
rs863223287, rs28936683, rs121909350, rs121909351, rs28931582, rs28929479, rs121912739, rs879255257, rs863225041, rs863225042, rs745854387, rs1057519324, rs1057519335, rs1057519334, rs1057519333, rs1057519336, rs1177728492, rs753644648, rs771373457, rs749952755, rs1828106198, rs1311857509, rs1828226013, rs1827867580, rs1828356952, rs1828565145, rs1828107536 View all (12 more) |
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Brachydactyly |
BRACHYDACTYLY, TYPE A2, Brachydactyly type C, BRACHYDACTYLY, TYPE A1, C |
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 View all (22 more) |
|
Chondrodysplasia punctata |
Chondrodysplasia, Grebe type |
rs80338714, rs398122843, rs121434599, rs121434604, rs2107055197, rs2089231699 |
|
Craniosynostosis |
Craniosynostosis |
rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350 |
|
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 View all (184 more) |
|
Hypophosphatemic rickets |
Hypophosphatemic Rickets, Hypophosphatemic Rickets, Autosomal Recessive, 1, Autosomal recessive hypophosphatemic rickets |
rs104894347, rs28937882, rs587776696, rs587776697, rs587776698, rs121908248, rs587776797, rs121908249, rs193922701, rs193922702, rs886041227, rs886041363, rs886041296, rs886041369, rs866429868, rs1556025994, rs1064793847, rs1556128253, rs1554278331, rs899142959, rs373044722 View all (6 more) |
17033621 |
Hypophosphatemic vitamin d refractory rickets, x-linked |
Autosomal recessive hypophosphatemic vitamin D refractory rickets |
rs2146979490, rs137853268, rs137853269, rs137853270, rs137853271, rs151340626, rs193922454, rs193922455, rs193922456, rs193922457, rs193922458, rs193922459, rs193922460, rs797044808, rs875989883, rs886039583, rs886041361, rs886041364, rs886041368, rs886041372, rs886041227, rs886041223, rs886041695, rs886041363, rs886041225, rs886041631, rs886041446, rs886041362, rs886041839, rs886041367, rs886041374, rs886041529, rs886041359, rs886041224, rs886041369, rs886041226, rs1057517799, rs1057517798, rs866429868, rs770573978, rs1057521800, rs1064793956, rs1064793228, rs1064795106, rs1064796845, rs1131691731, rs1131691841, rs1131691645, rs151306376, rs1556010757, rs1556012055, rs202074612, rs770630990, rs1556012100, rs1556012094, rs1556014263, rs1556014287, rs1556020460, rs1556020474, rs1556020485, rs1556020752, rs1556020798, rs1556020818, rs771208171, rs1556023495, rs1556023503, rs1556023505, rs1556023528, rs1556024541, rs1556025314, rs1556025936, rs1556025968, rs1556026027, rs1556026042, rs1556029499, rs1556029516, rs1556029519, rs1556030465, rs1556030487, rs1556030502, rs1556036014, rs754449807, rs375593493, rs1269067103, rs1556070724, rs1556070890, rs1556071086, rs1556071123, rs1556071138, rs1064796928, rs1556091855, rs1556128043, rs1556128253, rs1556135308, rs1556135467, rs1556135477, rs772130004, rs886041296, rs1556138407, rs1556138590, rs1556138742, rs1556148392, rs1556148532, rs748792378, rs1240767654, rs1556151004, rs1556151071, rs1556151137, rs1556151545, rs1556200989, rs1556201034, rs1556201217, rs1556205815, rs1057517981, rs1556206093, rs1556206335, rs1556206403, rs1556138769, rs1556026033, rs1556020770, rs1400504292, rs1569442206, rs1602240890, rs1602240926, rs1602241023, rs1602244836, rs1602273900, rs1602274883, rs1602274893, rs1602274929, rs1602274950, rs1602288211, rs1602290398, rs1602292528, rs1556025994, rs1602303865, rs1602304005, rs1602307078, rs1602307094, rs1602307107, rs1602324484, rs1602324630, rs1602354302, rs1602363343, rs1602363550, rs1602395717, rs1602402229, rs1602402258, rs1602405079, rs1602405176, rs1602405239, rs1602405375, rs1602411514, rs1602439597, rs1602439611, rs1602439662, rs1602442819, rs1602442871, rs1602273769, rs1602244774, rs1602244810, rs915608304 View all (147 more) |
|
Multiple synostoses syndrome |
MULTIPLE SYNOSTOSES SYNDROME 2 |
rs74315386, rs74315388, rs121909347, rs121918322, rs1555223925, rs1554571213 |
|
Osteochondrodysplasia |
Osteochondrodysplasias |
rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061 |
|
Skeletal dysplasia |
Skeletal dysplasia |
rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more) |
|
Symphalangism |
SYMPHALANGISM, PROXIMAL, 1B |
rs28936683, rs74315388, rs74315389, rs121909349 |
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