Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Diabetes mellitus |
Diabetes Mellitus, 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) |
19966805, 25751624 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
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 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Abscess |
Associate
|
35422450 |
Acute Lung Injury |
Associate
|
31184231 |
Adenocarcinoma of Lung |
Associate
|
36101742 |
Adenoma |
Inhibit
|
21871428 |
Alzheimer Disease |
Associate
|
36895559 |
Asthma |
Associate
|
36726728 |
Autistic Disorder |
Associate
|
26106604 |
Bipolar Disorder |
Inhibit
|
35410190 |
Birk Barel Mental Retardation Dysmorphism Syndrome |
Associate
|
30801013 |
Brain Injuries |
Associate
|
30579356 |
Brain Injuries Traumatic |
Inhibit
|
31173307 |
Breast Neoplasms |
Inhibit
|
28051255, 30278461, 35034894 |
Breast Neoplasms |
Associate
|
31488093, 31613058, 32176630, 32618397, 32669097, 33845141, 36033389, 36274054 |
Bronchopulmonary Dysplasia |
Associate
|
37478211 |
Carcinogenesis |
Associate
|
26253106, 26482610, 28263966, 31695090, 37308993 |
Carcinogenesis |
Inhibit
|
28276316, 33256840 |
Carcinoma Hepatocellular |
Inhibit
|
21625215, 31089680, 31531526, 33256840, 36553522 |
Carcinoma Hepatocellular |
Associate
|
23145177, 26444285, 30840267, 31695090, 35049008 |
Carcinoma Non Small Cell Lung |
Associate
|
26482610, 30280775, 31585300, 37308993 |
Carcinoma Non Small Cell Lung |
Inhibit
|
33495842 |
Carcinoma Ovarian Epithelial |
Associate
|
39519394 |
Carcinoma Renal Cell |
Associate
|
30957192, 37429368 |
Carcinoma Squamous Cell |
Associate
|
29741786 |
Cardiomyopathy Dilated |
Associate
|
39273049 |
Cataract Age Related Nuclear |
Associate
|
36987450 |
Cerebral Hemorrhage |
Associate
|
36128917 |
Cerebral Infarction |
Stimulate
|
30579356 |
Cholangiocarcinoma |
Inhibit
|
31539122 |
Choriocarcinoma |
Associate
|
34538870 |
Cognitive Dysfunction |
Inhibit
|
33508742 |
Colonic Neoplasms |
Associate
|
30556866 |
Colorectal Neoplasms |
Inhibit
|
25636452, 28731151, 31413531 |
Colorectal Neoplasms |
Associate
|
26934323, 27391432, 31729423, 32468035, 33094859 |
Congenital contractural arachnodactyly |
Inhibit
|
31539122 |
Crohn Disease |
Associate
|
35422450 |
Cytokine Release Syndrome |
Associate
|
31173307 |
Diabetes Gestational |
Stimulate
|
30575893 |
Diabetes Gestational |
Associate
|
33090678 |
Diabetes Mellitus Type 1 |
Associate
|
19966805, 31455420, 36109769 |
Diabetes Mellitus Type 2 |
Associate
|
24374217, 39529988 |
Diabetes Mellitus Type 2 |
Stimulate
|
30139387, 35876150 |
Diabetic Cardiomyopathies |
Associate
|
31085717 |
Diabetic Retinopathy |
Inhibit
|
32473920 |
Diabetic Retinopathy |
Associate
|
32519748, 39529988 |
Drug Related Side Effects and Adverse Reactions |
Stimulate
|
28731151, 36270092 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
31488093 |
Endometriosis |
Inhibit
|
37392565 |
Esophageal Neoplasms |
Inhibit
|
28539329, 30990378 |
Esophageal Squamous Cell Carcinoma |
Inhibit
|
28539329 |
Esophageal Squamous Cell Carcinoma |
Associate
|
30990378 |
Fibroadenoma |
Associate
|
32176630 |
Fibrosarcoma |
Stimulate
|
34238211 |
Gallbladder Neoplasms |
Associate
|
32633352 |
Gastrointestinal Diseases |
Associate
|
28260796 |
Glioblastoma |
Associate
|
32459347 |
Glioma |
Associate
|
28276316, 32271438, 37525401 |
Glioma |
Inhibit
|
31545491, 32420340 |
HAIR AN syndrome |
Inhibit
|
30535498 |
Heart Defects Congenital |
Associate
|
33407475 |
Hematologic Diseases |
Associate
|
28260796 |
Hemorrhage |
Associate
|
37045944 |
Heredodegenerative Disorders Nervous System |
Associate
|
25559585 |
Hirschsprung Disease |
Associate
|
32748823 |
Hypertension |
Associate
|
30579356, 33635564 |
Hypoxia Brain |
Inhibit
|
36578048 |
Idiopathic Pulmonary Fibrosis |
Stimulate
|
30185671 |
Inflammation |
Associate
|
31173307, 31907972, 32016959, 32520926, 35422450 |
Inflammation |
Inhibit
|
32473920, 32519748 |
Insulin Resistance |
Associate
|
33508742 |
Intellectual Disability |
Associate
|
26106604 |
Leukemia |
Associate
|
19786834, 34949657 |
Leukemia Myeloid Acute |
Inhibit
|
28400619, 34477125 |
Leukemia Myeloid Acute |
Associate
|
28407691, 30876483 |
Liver Cirrhosis |
Inhibit
|
34738631 |
Liver Neoplasms |
Associate
|
21737452 |
Lung Neoplasms |
Inhibit
|
27453422, 29509250 |
Lung Neoplasms |
Associate
|
27852821, 28260796, 30262664, 30280775, 31184231, 31585300, 38376279 |
Lupus Erythematosus Systemic |
Associate
|
19966805 |
Lymphatic Metastasis |
Inhibit
|
25636452, 26574780, 30915750, 30990378 |
Lymphatic Metastasis |
Associate
|
28051255, 28057015, 28740189, 32618397, 36231143 |
Meningioma |
Associate
|
20179190 |
Mouth Neoplasms |
Inhibit
|
33012637 |
Mucopolysaccharidosis I |
Associate
|
36833198 |
Multiple Myeloma |
Stimulate
|
32714991 |
Multiple Myeloma |
Associate
|
36270092 |
Multiple Sclerosis |
Associate
|
19966805, 37845751 |
Myocardial Infarction |
Associate
|
33725773 |
Neoplasm Metastasis |
Inhibit
|
26662307, 28975980, 29132136, 32618397, 33090393 |
Neoplasm Metastasis |
Associate
|
26823857, 26934323, 27391432, 31545491, 32271438, 33012637, 35184425, 35682732, 37308993, 39519394 |
Neoplasms |
Associate
|
15798773, 23977302, 24006224, 24173021, 25625332, 26934323, 28506242, 28715488, 30278461, 30556866, 30840267, 31233485, 31545491, 32176630, 32669097, 33030666, 33090393, 33845141, 35049008, 35184425, 36231143, 37169950 View all (7 more) |
Neoplasms |
Inhibit
|
17569660, 18458333, 18628527, 20032057, 20179190, 25636452, 26090403, 26253106, 26444285, 26574780, 26662307, 27453422, 28057015, 28263966, 28400619, 28539329, 28740189, 28975980, 29132136, 29287592, 29509250, 30102382, 30915750, 30990378, 31089680, 31413531, 31444106, 31488093, 31531526, 31729423, 31793175, 32149111, 32277605, 32459347, 33012637, 33256840, 33495842, 34520792, 36033389, 36553522, 37525401 View all (26 more) |
Neoplasms Basal Cell |
Inhibit
|
33012637 |
Neuroblastoma |
Associate
|
15798773, 27824082, 29615542, 30952905 |
Neuroectodermal Tumors Primitive |
Associate
|
29132136 |
Neuroendocrine Tumors |
Inhibit
|
29132136 |
Neuromyelitis Optica |
Associate
|
37907501 |
Non alcoholic Fatty Liver Disease |
Stimulate
|
33508742 |
Non Muscle Invasive Bladder Neoplasms |
Associate
|
31182759 |
Noonan Syndrome |
Associate
|
32546215 |
Obesity |
Associate
|
24158121, 33090678, 33508742 |
Obesity |
Inhibit
|
27158277 |
Obesity |
Stimulate
|
33616223 |
Obesity Maternal |
Associate
|
24158121 |
Oligodendroglioma |
Associate
|
37525401 |
Oligospermia |
Associate
|
25625849, 30340650 |
Osteoarthritis |
Inhibit
|
26090403 |
Osteoarthritis |
Associate
|
31253047 |
Osteoarthritis Knee |
Stimulate
|
30086750 |
Osteosarcoma |
Inhibit
|
26823857 |
Osteosarcoma |
Associate
|
28506242, 32016959 |
Ovarian Neoplasms |
Associate
|
29150601, 31233485, 32781203 |
Overweight |
Associate
|
27158277 |
Pancreatitis |
Associate
|
36218109 |
Parkinson Disease |
Associate
|
34868009, 39684585 |
Periodontitis |
Associate
|
31398715, 32520926 |
Peritonitis |
Associate
|
39519394 |
Personality Disorders |
Associate
|
36231143 |
Pigmentary Disorder Reticulate with Systemic Manifestations |
Associate
|
39529988 |
Pituitary Neoplasms |
Associate
|
18628527, 21871428, 32233527 |
Pituitary Neoplasms |
Inhibit
|
20032057, 33649837 |
Pneumonia |
Stimulate
|
34558385 |
Pre Eclampsia |
Associate
|
34238211 |
Prostatic Neoplasms |
Associate
|
24513574, 27528026, 32827147, 39341147 |
Proteinuria |
Associate
|
37511572 |
Pulmonary Arterial Hypertension |
Inhibit
|
28848087 |
Pulmonary Disease Chronic Obstructive |
Associate
|
27932875, 32844492, 37215747 |
Pulmonary Disease Chronic Obstructive |
Stimulate
|
32201430 |
Purpura Thrombocytopenic Idiopathic |
Associate
|
37045944 |
Respiratory Distress Syndrome |
Stimulate
|
32844492 |
Respiratory Tract Infections |
Associate
|
32844492 |
Retinoblastoma |
Inhibit
|
26662307, 29287592 |
Rhabdomyosarcoma |
Associate
|
24173021 |
Rhabdomyosarcoma Embryonal |
Associate
|
24173021 |
Rufous oculocutaneous albinism |
Associate
|
28740189 |
Sarcoma |
Associate
|
35238118 |
Sepsis |
Associate
|
31907972 |
Sepsis |
Stimulate
|
32844492 |
Sexual Dysfunction Physiological |
Associate
|
32633352 |
Silver Russell Syndrome |
Associate
|
25351781, 25951829, 30801013, 32546215 |
Small Cell Lung Carcinoma |
Stimulate
|
35184425 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
29575229, 30556872, 30915750, 31793175, 33012637 |
Squamous Cell Carcinoma of Head and Neck |
Inhibit
|
32277605, 36468944 |
Stenosis Pulmonary Artery |
Associate
|
28848087 |
Stomach Neoplasms |
Inhibit
|
24006224, 26253106, 28975980 |
Stomach Neoplasms |
Associate
|
33119060, 39578780 |
Tachycardia Atrioventricular Nodal Reentry |
Inhibit
|
26662307 |
Temple syndrome |
Associate
|
30801013, 30846001, 34039421, 35266280 |
Thyroid Cancer Papillary |
Associate
|
36231143 |
Thyroid Neoplasms |
Associate
|
36231143 |
Trauma Nervous System |
Associate
|
36128917 |
Triple Negative Breast Neoplasms |
Associate
|
30278461 |
Uniparental Disomy |
Associate
|
26114957 |
Urinary Bladder Neoplasms |
Associate
|
27793008, 31182759 |
Uterine Cervical Dysplasia |
Associate
|
35682732 |
Uterine Cervical Neoplasms |
Inhibit
|
26574780, 35682732 |
Uterine Cervical Neoplasms |
Associate
|
27184657, 28057015, 28740189, 37628839, 39510199 |
Vascular Diseases |
Associate
|
30575893 |
Wilms Tumor |
Associate
|
15798773, 32149111 |
Wilms Tumor |
Inhibit
|
33090393 |
Wounds and Injuries |
Associate
|
31184231 |
|