Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
|
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 View all (32 more) |
|
Expansile osteolysis |
Familial expansile osteolysis |
rs879253796, rs886037749 |
10615125 |
Hearing loss |
Conductive hearing loss |
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) |
|
Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
|
Hyperphosphatasemia with bone disease |
Hyperphosphatasemia with bone disease |
rs796051868, rs104894091, rs2129878039, rs200071478, rs1307942060 |
25063546 |
Hypertension |
Hypertensive disease |
rs13306026 |
|
Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
|
Myasthenia gravis |
Myasthenia Gravis, Adult-onset myasthenia gravis |
rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262 View all (8 more) |
26562150, 25643325 |
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 View all (37 more) |
|
Osteopetrosis |
Osteopetrosis, Osteopetrosis, Autosomal Recessive 7 |
rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323 View all (73 more) |
18606301 |
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
Paget disease |
Osteitis Deformans, PAGET DISEASE OF BONE 2, EARLY-ONSET, Juvenile Paget disease, NON RARE IN EUROPE: Paget disease of bone |
rs796051862, rs796051869, rs796051870, rs796052213, rs1555767678, rs869025582 |
11351498, 12673693, 20436471 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma, Childhood asthma |
|
31036433, 30929738 |
ClinVar, GWAS |
Vitiligo |
Vitiligo |
|
|
GWAS |
Eczema |
Eczema |
|
|
GWAS |
Myasthenia Gravis |
Myasthenia Gravis |
|
|
GWAS |
Dermatitis |
Dermatitis |
|
|
GWAS |
Osteoarthritis Of Hip |
Osteoarthritis Of Hip |
|
|
GWAS |
Rheumatoid arthritis |
Rheumatoid arthritis |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acro Osteolysis |
Associate
|
36740137 |
Adenocarcinoma |
Associate
|
34724890 |
Adenocarcinoma of Lung |
Associate
|
35437508, 37543671 |
Adenocarcinoma of Lung |
Stimulate
|
39273449 |
Agammaglobulinemia |
Associate
|
18606301, 22271396 |
Ameloblastoma |
Associate
|
21643971 |
Amyotrophic Lateral Sclerosis |
Associate
|
21659498 |
Aortic Valve Calcification of |
Associate
|
28246602 |
Aortic Valve Stenosis |
Associate
|
28246602 |
Aphasia Broca |
Associate
|
36818472 |
Arthritis Psoriatic |
Stimulate
|
28619088 |
Arthritis Rheumatoid |
Associate
|
18839399, 27054952, 27572279, 32815001 |
Atrial Fibrillation |
Associate
|
22001292 |
Atrial Remodeling |
Associate
|
22001292 |
Bone Diseases |
Associate
|
25063546, 26617755, 26781475, 40222603 |
Bone Diseases Metabolic |
Associate
|
22370887 |
Bone Neoplasms |
Associate
|
17982618 |
Bone Resorption |
Associate
|
16936272, 16960694 |
Breast Neoplasms |
Associate
|
21559440, 22824341, 26781475, 27191503, 27893411, 28577080, 28758931, 29932437, 35697931 |
Calcinosis |
Associate
|
16449517 |
Calcinosis Cutis |
Stimulate
|
21407234 |
Carcinogenesis |
Associate
|
34570303 |
Carcinoma Giant Cell |
Associate
|
35697931 |
Carcinoma Ovarian Epithelial |
Associate
|
35163671 |
Carcinoma Renal Cell |
Associate
|
26528707 |
Cardiomegaly |
Associate
|
12929927 |
Cardiovascular Diseases |
Associate
|
22001292 |
Cataract |
Associate
|
32180680 |
Cognition Disorders |
Associate
|
35858838 |
Colonic Neoplasms |
Associate
|
33985413, 36646765 |
Colorectal Neoplasms |
Associate
|
34541005 |
COVID 19 |
Associate
|
36818472 |
Cysts |
Associate
|
21683340 |
Delayed Emergence from Anesthesia |
Associate
|
24081232 |
Dentigerous Cyst |
Associate
|
21683340 |
Diabetes Mellitus |
Associate
|
21659498 |
Disease |
Associate
|
11771666, 31923705 |
Dysosteosclerosis |
Associate
|
31163101 |
Edema |
Associate
|
12568416 |
Endometrial Neoplasms |
Associate
|
29932437 |
Esophageal Neoplasms |
Associate
|
25019155, 25973136 |
Esophageal Squamous Cell Carcinoma |
Associate
|
25019155, 25973136 |
Expansile Bone Lesions |
Associate
|
31923705, 36740137 |
Familial Paget's disease of bone |
Associate
|
36740137 |
Femur Head Necrosis |
Associate
|
26617755 |
Fibrous Dysplasia Polyostotic |
Associate
|
21987421 |
Frailty |
Associate
|
37254268 |
Giant Cell Tumor of Tendon Sheath |
Associate
|
31189751 |
Glioma |
Associate
|
22787434 |
Hearing Loss |
Associate
|
12568416, 12929927, 31923705, 40222603 |
Heart Failure Diastolic |
Associate
|
34685778 |
Heart Valve Diseases |
Associate
|
16449517, 27003233 |
Hip Injuries |
Inhibit
|
21760914 |
Hip Injuries |
Associate
|
21760914 |
Hodgkin Disease |
Associate
|
11675352 |
Hypercalcemia |
Associate
|
11781248, 12929927, 22271396, 31923705, 40222603 |
Hyperostosis corticalis deformans juvenilis |
Associate
|
11771666, 12929927, 20564239, 21987421, 25063546, 31923705, 32298837 |
Immunologic Deficiency Syndromes |
Associate
|
18606301 |
Inflammation |
Associate
|
27003233, 34685778 |
Iron Overload |
Associate
|
37532711 |
Kidney Diseases |
Associate
|
25478860 |
Kidney Neoplasms |
Associate
|
37407978 |
Leukemia Lymphoma Adult T Cell |
Associate
|
11781248 |
Liver Cirrhosis Biliary |
Associate
|
27054952 |
Lymphatic Metastasis |
Stimulate
|
25973136 |
Lymphoma Large B Cell Diffuse |
Associate
|
19412164 |
Melanoma |
Associate
|
21407234 |
Monckeberg Medial Calcific Sclerosis |
Associate
|
21659498 |
Multiple Myeloma |
Associate
|
26762414, 36251145 |
Musculoskeletal Diseases |
Associate
|
12929927 |
Myalgia |
Associate
|
28619088 |
Myasthenia Gravis |
Associate
|
25643325, 35074870 |
Neoplasm Metastasis |
Associate
|
21559440, 26528707, 27191503, 28577080 |
Neoplasms |
Associate
|
21559440, 23369128, 31992773, 35163671, 39273449 |
Neoplasms |
Stimulate
|
26781475 |
Obesity |
Associate
|
16960694 |
Oculocerebrorenal Syndrome |
Associate
|
31923705 |
Odontogenic Cysts |
Associate
|
21643971, 33768738 |
Osteitis Deformans |
Associate
|
11149487, 11473345, 11742440, 12929927, 19578385, 19925894, 20436471, 20564239, 21623375, 21987421, 31923705 |
Osteoarthritis Knee |
Associate
|
30921190 |
Osteolysis |
Associate
|
21643971, 21659498, 33768738 |
Osteonecrosis |
Associate
|
25820558, 26617755 |
Osteopetrosis |
Associate
|
18606301, 20564239, 22271396, 24108692, 32097281, 34049530 |
Osteopetrosis Autosomal Recessive 1 |
Associate
|
19507210 |
Osteopetrosis Autosomal Recessive 7 |
Associate
|
31163101 |
Osteopetrosis mild autosomal recessive form |
Associate
|
18606301, 22271396, 28816234 |
Osteoporosis |
Associate
|
22370887, 34049530 |
Osteoporotic Fractures |
Associate
|
22370887 |
Osteosarcoma |
Associate
|
17982618, 38468522 |
Pain |
Associate
|
12568416 |
Polyostotic osteolytic dysplasia hereditary expansile |
Associate
|
11555792, 11742440, 11771666, 12568416, 12929927, 20564239, 31923705, 36740137 |
Radicular Cyst |
Associate
|
21643971 |
Root Resorption |
Associate
|
40222603 |
Stomach Neoplasms |
Associate
|
30015970, 35421138 |
Tachycardia Sinoatrial Nodal Reentry |
Stimulate
|
34737220 |
Tendinopathy |
Associate
|
40222603 |
Tibial Neuropathy |
Associate
|
12568416 |
Tooth Loss |
Associate
|
12929927, 31923705 |
Transfusion Reaction |
Associate
|
35858838, 37532711 |
Uterine Cervical Dysplasia |
Stimulate
|
25973136 |
Uterine Cervical Neoplasms |
Associate
|
32616510 |
Vascular Calcification |
Associate
|
21659498 |
Weight Loss |
Associate
|
24081232 |
Wiskott Aldrich Syndrome |
Associate
|
32097281 |
Zellweger Syndrome |
Associate
|
21987421 |
|