Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 View all (71 more) |
29059683 |
Diabetes mellitus |
Diabetes Mellitus, Non-Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 View all (293 more) |
22325160 |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
10900012 |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
21738487 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
18936756 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Hirschsprung Disease |
Hirschsprung disease |
|
|
GenCC |
Diabetes |
Diabetes |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Dementia |
Dementia |
|
|
GWAS |
Coronary artery disease |
Coronary artery disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acrocephalosyndactylia |
Associate
|
31490983 |
Atherosclerosis |
Associate
|
19292868, 23717417, 31610782, 40527779 |
Atrophy |
Associate
|
23226416 |
Azoospermia Nonobstructive |
Inhibit
|
24842676 |
Breast Neoplasms |
Associate
|
23082122, 31073170, 34575972, 36960852 |
Carcinogenesis |
Associate
|
36087034 |
Carcinoma Hepatocellular |
Associate
|
20173757, 24776759, 34311471, 34981667, 37828054 |
Carcinoma Non Small Cell Lung |
Associate
|
32568455, 33939316, 35806291 |
Carcinoma Ovarian Epithelial |
Associate
|
36512324 |
Carcinoma Pancreatic Ductal |
Associate
|
28521289 |
Carcinoma Renal Cell |
Associate
|
33647481, 34285190, 36694250 |
Cardiovascular Diseases |
Associate
|
23680128, 35652342 |
Carotid Stenosis |
Associate
|
31610782 |
Cell Transformation Neoplastic |
Associate
|
29328367 |
Chemical and Drug Induced Liver Injury |
Associate
|
24152445 |
Colonic Neoplasms |
Stimulate
|
31299935 |
Colorectal Neoplasms |
Associate
|
16817902, 31299935, 31601152, 36348128 |
Congenital Hyperinsulinism |
Stimulate
|
20699619 |
Coronary Artery Disease |
Associate
|
28095459, 28367087, 36380121, 39614436 |
Coronary Artery Disease |
Inhibit
|
31610782 |
Coronary Artery Disease |
Stimulate
|
32323776 |
Coronary Disease |
Associate
|
23840567, 39953634 |
COVID 19 |
Stimulate
|
37669865 |
Dementia |
Associate
|
20167577 |
Diabetes Gestational |
Associate
|
38326276 |
Diabetes Mellitus |
Associate
|
17019602, 18654640, 26095709, 28521289, 31169416, 36529747 |
Diabetes Mellitus Type 2 |
Associate
|
14742839, 17019602, 19292868, 19720801, 24614076, 26095709, 27148772, 30600310, 31169416, 31506343, 32041280, 32710190, 36529747 |
Diabetes Mellitus Type 2 |
Inhibit
|
17030965, 18448614 |
Dyslipidemias |
Associate
|
19913854, 27301461, 35899893 |
Dyslipidemias |
Stimulate
|
31299935 |
Embolism Fat |
Associate
|
30845774, 33207858 |
Endocrine System Diseases |
Associate
|
30180878 |
Endometrial Neoplasms |
Associate
|
22672904, 24105476, 24614076, 34039951, 37305395 |
Endometrial Neoplasms |
Stimulate
|
24614076, 28176325 |
Endotoxemia |
Inhibit
|
30422702 |
Fatty Liver |
Associate
|
19733654, 23103837, 24603540, 32332706, 35152538, 37385614 |
Fatty Liver |
Stimulate
|
25406988, 33096687 |
Fibrosis |
Associate
|
39941038 |
Gait Ataxia |
Associate
|
24514572 |
Gerstmann Syndrome |
Associate
|
31159817, 35162967, 37572939 |
Glioma |
Associate
|
24077277, 35894143 |
Glomerulonephritis IGA |
Associate
|
35769467 |
Glucosephosphate Dehydrogenase Deficiency |
Inhibit
|
33485183 |
Hearing Loss |
Associate
|
26095709 |
Hepatitis C |
Stimulate
|
24478438, 27193023 |
Hyperinsulinism |
Associate
|
22471940, 27301461 |
Hyperlipidemias |
Associate
|
27777315 |
Hyperlipoproteinemia Type II |
Associate
|
33028190 |
Hypertriglyceridemia |
Associate
|
27301461 |
Ichthyosis follicularis atrichia photophobia syndrome |
Associate
|
32497488 |
Inflammation |
Inhibit
|
26718495 |
Inflammatory Bowel Diseases |
Associate
|
35769467 |
Insulin Resistance |
Associate
|
18654640, 19733654, 19913854, 21701566, 35417665 |
Iron Overload |
Stimulate
|
21114893 |
Leukoencephalopathies |
Associate
|
31691183 |
Lipodystrophy |
Associate
|
21993218 |
Lipodystrophy Familial Partial |
Associate
|
21993218 |
Liver Cirrhosis |
Associate
|
24152445 |
Liver Failure |
Associate
|
24152445 |
Lung Neoplasms |
Stimulate
|
35806291 |
Lung Neoplasms |
Associate
|
36087034 |
Lymphatic Metastasis |
Stimulate
|
24776759, 34799559 |
Lymphatic Metastasis |
Associate
|
31887541, 36171622 |
Melanoma |
Associate
|
30970006, 31316083 |
Metabolic Diseases |
Associate
|
22848045, 33978191, 34526523, 35843982 |
Metabolic Syndrome |
Associate
|
26771965, 27301461, 28095459, 34780523, 39294274, 40243421 |
Multiple Myeloma |
Associate
|
34378191 |
Multiple Sclerosis |
Associate
|
39953634 |
Muscle Rigidity |
Associate
|
24514572 |
Muscular Atrophy |
Stimulate
|
23226416 |
Myotonic Dystrophy |
Stimulate
|
30845774 |
Nasopharyngeal Carcinoma |
Associate
|
34546840, 35628510 |
Neoplasm Invasiveness |
Stimulate
|
34799559 |
Neoplasm Metastasis |
Associate
|
24776759, 32464305, 39851231 |
Neoplasms |
Associate
|
11082286, 22690709, 28617309, 29514980, 31118427, 31299935, 31379107, 31887541, 32464305, 34116604, 34272396, 34575972, 35534729, 35710732, 35894143, 39215079 View all (1 more) |
Neoplasms |
Stimulate
|
22672904, 24776759, 35806291, 37090107 |
Neoplasms Adipose Tissue |
Associate
|
22309242, 28095459, 30425339, 32901515, 35417665 |
Neoplasms Squamous Cell |
Associate
|
34272396 |
Non alcoholic Fatty Liver Disease |
Associate
|
23985808, 25634759, 27572914, 28902428, 30948912, 33671486, 34808393, 36771140 |
Non alcoholic Fatty Liver Disease |
Stimulate
|
32332706 |
Norrie disease |
Associate
|
32041280 |
Obesity |
Associate
|
11707537, 15833942, 17030965, 19292868, 19733654, 24614076, 27467133, 30422702, 35417665, 36529747, 37106328, 37385614 |
Obesity |
Stimulate
|
19913854, 30845774, 34526523 |
Osteoarthritis |
Associate
|
34899727 |
Osteosarcoma |
Associate
|
31736227 |
Pancreatitis |
Inhibit
|
15833942 |
Parkinson Disease |
Associate
|
21738487, 24514572 |
Periodontal Diseases |
Associate
|
28083517 |
Phyllodes Tumor of the Prostate |
Associate
|
33807257 |
Polycystic Ovary Syndrome |
Stimulate
|
28176325, 31618328 |
Polycystic Ovary Syndrome |
Associate
|
37445796, 39294274 |
Potocki Lupski syndrome |
Associate
|
28413209 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
37072664 |
Progeria |
Associate
|
21993218 |
Prostatic Neoplasms |
Associate
|
18774944, 20025723, 22540830, 25294820, 29784665, 31395683, 32258129, 33471067, 33780364, 34948018, 38279172 |
Prostatic Neoplasms Castration Resistant |
Associate
|
25880275 |
Reperfusion Injury |
Associate
|
36840630 |
Schizophrenia |
Associate
|
24329191, 25433960 |
Sitosterolemia |
Associate
|
9610773 |
Sleep Apnea Obstructive |
Associate
|
30600310 |
Sleep Deprivation |
Associate
|
25197809 |
Smith Magenis Syndrome |
Associate
|
12180145 |
Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
37090107 |
Stomach Neoplasms |
Associate
|
32464305, 36171622 |
Tertiary Lymphoid Structures |
Stimulate
|
37090107 |
Thyroid Neoplasms |
Associate
|
31887541, 38436206 |
Thyroid Nodule |
Stimulate
|
31887541 |
Tremor |
Associate
|
24514572 |
Urinary Bladder Neoplasms |
Associate
|
34116604, 35685866, 37542643 |
Weight Loss |
Stimulate
|
11707537 |
Weight Loss |
Associate
|
19913854 |
Weight Loss |
Inhibit
|
34526523 |
|