| Causal |
| Disease term |
Disease name |
dbSNP ID |
References |
| Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
30061737, 27790247, 22544366, 19597492, 28416818, 28460022, 19597491, 29290336, 28416822, 29892015 |
| Diabetes |
Diabetes |
rs80356611 |
27790247 |
| Diabetes mellitus |
Diabetes Mellitus |
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) |
27790247 |
| Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
| 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) |
29273807 |
| Prostate cancer |
Malignant neoplasm of prostate, PROSTATE CANCER, SOMATIC |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
16637072, 17013881, 29610475 |
|
| Unknown |
| Disease term |
Disease name |
Evidence |
References |
Source |
| Coronary heart disease |
Coronary heart disease |
|
27790247 |
ClinVar |
| Heart failure |
Heart failure |
|
27790247 |
ClinVar |
| Ischemic stroke |
Ischemic stroke |
|
26708676 |
ClinVar |
| Mental depression |
Major Depressive Disorder |
|
21042317 |
ClinVar |
| Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
19597492, 30061737, 22544366, 29892015, 19597491 |
ClinVar |
| Neurodevelopmental Disorders |
syndromic complex neurodevelopmental disorder, complex neurodevelopmental disorder |
|
|
GenCC |
| Epilepsy |
epilepsy |
|
|
GenCC |
| Spinocerebellar Ataxia |
spinocerebellar ataxia type 4 |
|
|
GenCC |
| Schizophrenia |
Schizophrenia |
|
|
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 |
| Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
| Mental Depression |
Mental Depression |
|
|
GWAS |
| Hypospadias |
Hypospadias |
|
|
GWAS |
| Thyrotoxic Periodic Paralysis |
Thyrotoxic Periodic Paralysis |
|
|
GWAS |
| Ovarian cancer |
Ovarian cancer |
Conditional KD of IL6 in the OCCA xenograft model delays tumor growth |
|
GWAS, CBGDA |
| Sick Sinus Syndrome |
Sick Sinus Syndrome |
|
|
GWAS |
| Ischemic Stroke |
Ischemic Stroke |
|
|
GWAS |
| Dementia |
Dementia |
|
|
GWAS |
| Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
| Sarcoidosis |
Sarcoidosis |
|
|
GWAS |
| Heart Failure |
Heart Failure |
|
|
GWAS |
| Psoriasis |
Psoriasis |
|
|
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
| Restless Legs Syndrome |
Restless Legs Syndrome |
|
|
GWAS |
|
| Associations from Text Mining |
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
36103249 |
| Adenoma |
Associate
|
28713972 |
| Alzheimer Disease |
Associate
|
30598117 |
| Anxiety |
Associate
|
35577822 |
| Apraxia oculomotor Cogan type |
Associate
|
38035881 |
| Atrial Fibrillation |
Associate
|
19597491, 19597492, 21107608, 21760908, 22384221, 22726630, 22776031, 23132824, 23428961, 24239840, 24910551, 24983873, 25539802, 26267381, 26272656, 26631084, 27261248, 28007413, 28381281, 29624624, 30180182, 30760287, 33155827, 33350184, 34884836, 37824462, 38164777 View all (12 more) |
| Atrial Standstill |
Associate
|
28381281 |
| Autism Spectrum Disorder |
Associate
|
38412861 |
| Autoimmune Diseases of the Nervous System |
Associate
|
39615603 |
| Brachydactyly |
Associate
|
38412861 |
| Brain Neoplasms |
Associate
|
33479213 |
| Breast Neoplasms |
Inhibit
|
16932943, 20720010, 21367855 |
| Breast Neoplasms |
Associate
|
18416817, 18796146, 22452784, 25501155, 36476423 |
| Brugada Syndrome |
Associate
|
34884836 |
| Carcinogenesis |
Associate
|
24651376, 38412861 |
| Carcinogenesis |
Inhibit
|
36476423 |
| Carcinoma Acinar Cell |
Associate
|
34629449 |
| Carcinoma Adenosquamous |
Associate
|
31958074 |
| Carcinoma Basal Cell |
Associate
|
33928395 |
| Carcinoma Non Small Cell Lung |
Associate
|
23144151, 32653938, 35226388, 35798829 |
| Cardiovascular Diseases |
Associate
|
28515798 |
| Cerebral Infarction |
Associate
|
19597491, 28007413, 32202197, 37653506 |
| Cleft Palate |
Associate
|
38412861 |
| Cognition Disorders |
Associate
|
39615603 |
| Colonic Neoplasms |
Associate
|
28713972 |
| Colorectal Neoplasms |
Associate
|
28713972 |
| Communicable Diseases |
Associate
|
30598117 |
| Coronary Artery Disease |
Associate
|
24983873 |
| Coronary Disease |
Associate
|
25797214 |
| COVID 19 |
Associate
|
37653506 |
| Developmental Disabilities |
Associate
|
38412861 |
| Diabetes Mellitus |
Associate
|
25797214 |
| Dyslipidemias |
Associate
|
25797214 |
| Embolic Stroke |
Associate
|
19597491, 22306652, 25961151, 26708676 |
| Encephalitis Viral |
Associate
|
30598117 |
| Endometrial Neoplasms |
Associate
|
26330387, 33536036 |
| Gastroschisis |
Associate
|
32163230 |
| Growth Disorders |
Associate
|
30809043, 38412861 |
| Hematologic Neoplasms |
Associate
|
39615603 |
| Hepatoblastoma |
Associate
|
33368532 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
21367855, 22452784 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
12865944 |
| Hereditary Sensory and Autonomic Neuropathies |
Associate
|
38035881 |
| Heterotaxy Syndrome |
Associate
|
28381281 |
| Hirschsprung Disease |
Associate
|
29093530 |
| Hodgkin Disease |
Associate
|
12865944 |
| Hyperglycinemia Nonketotic |
Associate
|
38035881 |
| Hypertension |
Associate
|
25797214 |
| Infarction Anterior Cerebral Artery |
Associate
|
26708676 |
| Inflammation |
Associate
|
19132087, 30180182 |
| Intellectual Disability |
Associate
|
38412861 |
| Ischemic Attack Transient |
Associate
|
26631084 |
| Ischemic Stroke |
Associate
|
26631084 |
| Lown Ganong Levine Syndrome |
Associate
|
33155827 |
| Lung Diseases |
Associate
|
33479213 |
| Lymphatic Metastasis |
Inhibit
|
23144151 |
| Motor Disorders |
Associate
|
35577822 |
| Mucocutaneous Lymph Node Syndrome |
Associate
|
19132087, 25539802 |
| Neoplasm Invasiveness |
Inhibit
|
22791392 |
| Neoplasm Metastasis |
Associate
|
33479213 |
| Neoplasms |
Inhibit
|
16932943, 20720010, 21367855, 22452784, 26330387, 28713972, 28984200, 33499898, 36476423, 36613756 |
| Neoplasms |
Associate
|
18796146, 22791392, 23144151, 24651376, 32651179, 32653938, 33933102, 34667026 |
| Neurodegenerative Diseases |
Associate
|
35577822 |
| Neuroinflammatory Diseases |
Associate
|
39615603 |
| Osteosarcoma |
Associate
|
32862606 |
| Polyps |
Associate
|
28713972 |
| Post Acute COVID 19 Syndrome |
Associate
|
39615603 |
| Prosopagnosia |
Associate
|
36097363 |
| Prostate cancer familial |
Associate
|
19035517 |
| Prostatic Neoplasms |
Associate
|
16932943, 18416817, 18796146, 31134918, 35347810 |
| Prostatic Neoplasms |
Inhibit
|
19035517 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
33771885 |
| Retinal Dysplasia |
Associate
|
22791392 |
| Sick Sinus Syndrome |
Associate
|
33580673 |
| Small Cell Lung Carcinoma |
Associate
|
38181741 |
| Spinocerebellar Ataxias |
Associate
|
38035881 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
22791392 |
| Stomach Neoplasms |
Associate
|
14978340, 33933102 |
| Stroke |
Associate
|
22776031, 30760287, 32202197, 34727735 |
| Thromboembolism |
Associate
|
28007413 |
| Uterine Cervical Neoplasms |
Associate
|
32718341, 35205332 |
|