Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Gastric cancer |
Hereditary Diffuse Gastric Cancer |
rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 View all (244 more) |
|
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
|
Lung adenocarcinoma |
Bronchioloalveolar Adenocarcinoma |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 View all (5 more) |
|
Lung carcinoma |
Non-Small Cell Lung Carcinoma, Carcinoma of lung |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 View all (44 more) |
|
Lung cancer |
Malignant neoplasm of lung |
rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Immunodeficiency |
immunodeficiency 117 |
|
|
GenCC |
Eczema |
Eczema |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
|
|
GWAS |
Crohn Disease |
Crohn Disease |
|
|
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 |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Ulcerative colitis |
Ulcerative colitis |
|
|
GWAS |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Nasal polyposis |
Nasal polyposis |
|
|
GWAS |
Coronary artery disease |
Coronary artery disease |
|
|
GWAS |
Acne |
Acne |
|
|
GWAS |
Psoriasis |
Psoriasis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acute Coronary Syndrome |
Stimulate
|
25997853, 31871426 |
Adenocarcinoma of Lung |
Stimulate
|
24564251 |
Alopecia Areata |
Associate
|
30558329 |
Alzheimer Disease |
Associate
|
34804058 |
Amyotrophic Lateral Sclerosis |
Associate
|
27512062 |
Anhedonia |
Associate
|
30408130 |
Arthritis Juvenile |
Associate
|
11315919, 25540605 |
Arthritis Rheumatoid |
Associate
|
21834067, 25014791, 25452308, 35572839 |
Arthritis Rheumatoid |
Stimulate
|
22401175 |
Atherosclerosis |
Associate
|
38277520 |
Atrial Fibrillation |
Associate
|
33755965 |
Atrophy |
Associate
|
22096509 |
Atypical Squamous Cells of the Cervix |
Associate
|
12204966 |
Autoimmune Diseases |
Stimulate
|
19345417 |
Autoimmune Diseases |
Associate
|
34314424 |
Brain Ischemia |
Associate
|
33336753 |
Breast Neoplasms |
Associate
|
11323500, 14651776, 14993214, 15241475, 16241857, 19697121, 20457620, 26011589, 32784074, 36936167, 37761960 |
Calcinosis Cutis |
Stimulate
|
16371631 |
Caliciviridae Infections |
Associate
|
29753657 |
Carcinogenesis |
Associate
|
11711624, 19574175, 21389130, 32784074, 34158547 |
Carcinogenesis |
Inhibit
|
26011589 |
Carcinoid Tumor |
Associate
|
10942060 |
Carcinoma Basal Cell |
Stimulate
|
17508019 |
Carcinoma Ductal |
Associate
|
11323500 |
Carcinoma Hepatocellular |
Associate
|
21564420, 22056812, 27191889, 27279136, 31727135, 32016965, 32671843, 40612868 |
Carcinoma Non Small Cell Lung |
Associate
|
24564251 |
Carcinoma Non Small Cell Lung |
Inhibit
|
35092496 |
Carcinoma Ovarian Epithelial |
Associate
|
32558345 |
Carcinoma Renal Cell |
Inhibit
|
22890831 |
Carcinoma Renal Cell |
Associate
|
34789838 |
Carcinoma Squamous Cell |
Stimulate
|
24564251 |
Carcinoma Squamous Cell |
Associate
|
36478592 |
Cardiomyopathies |
Associate
|
28150292 |
Celiac Disease |
Associate
|
21288140 |
Celiac Disease |
Stimulate
|
28934294 |
Cell Transformation Neoplastic |
Associate
|
25301365 |
Cell Transformation Viral |
Associate
|
11559933 |
Cerebral Infarction |
Stimulate
|
38277520 |
Chromosome 5q Deletion Syndrome |
Associate
|
8219215 |
Chronic Disease |
Associate
|
20031577 |
Chronic Urticaria |
Associate
|
35371000 |
Clear cell metastatic renal cell carcinoma |
Associate
|
37247083 |
Colitis Ulcerative |
Associate
|
34158547, 38203518 |
Colonic Neoplasms |
Associate
|
25301365, 32925784 |
Colorectal Neoplasms |
Associate
|
25301365, 29720400, 33277837 |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
Associate
|
32765497 |
COVID 19 |
Associate
|
37310504 |
Crohn Disease |
Associate
|
20031577, 34749666, 39199011 |
Cystic Disease Of Lung |
Associate
|
24940638 |
Cystic Fibrosis |
Associate
|
24940638 |
Death |
Associate
|
19697121 |
Death |
Stimulate
|
38203518 |
Diabetes Mellitus |
Associate
|
36978091 |
Diabetes Mellitus Type 2 |
Stimulate
|
32210958 |
Diabetic Nephropathies |
Associate
|
36978091, 37316538 |
Disease |
Associate
|
31809599 |
Down Syndrome |
Inhibit
|
22995210 |
Dyslipidemias |
Inhibit
|
28316372 |
Endometrial Neoplasms |
Associate
|
36481790 |
Epstein Barr Virus Infections |
Associate
|
36519208 |
Fibrosis |
Associate
|
22096509, 36091020 |
Glioma |
Stimulate
|
33902005 |
Glioma |
Associate
|
34643804, 36007277 |
Glycosuria Renal |
Associate
|
36978091 |
Gout |
Associate
|
22393348 |
Hematologic Neoplasms |
Associate
|
21790247, 7687740 |
Hepatitis B Chronic |
Associate
|
27310137 |
HIV Infections |
Associate
|
21200019, 21411754, 22280894, 23799084, 29510721 |
HIV Infections |
Stimulate
|
35336878 |
Hyperlipidemias |
Associate
|
38277520 |
Hypertension |
Associate
|
38277520 |
Hypomagnesemia primary |
Associate
|
35572839 |
Hypoxia |
Associate
|
24927122, 25955133 |
Ichthyosis X Linked |
Associate
|
17947510 |
Immune System Diseases |
Associate
|
24927122 |
Infections |
Associate
|
15516717 |
Inflammation |
Associate
|
10225979, 11315919, 14708625, 22401175, 23807161, 24927122, 25418955, 27310137, 27512062, 28564495, 28585919, 29064427, 30408130, 31140325, 32210958, 34158547, 35618935, 36797040, 36857629, 37303492, 37372943, 39818255 View all (7 more) |
Inflammation |
Stimulate
|
38203518 |
Inflammatory Bowel Diseases |
Associate
|
22467146, 34758847 |
Influenza Human |
Associate
|
31746331 |
Jaundice Obstructive |
Associate
|
27551049 |
Leukemia |
Associate
|
18084608, 30898977 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
12358902 |
Leukemia Monocytic Acute |
Associate
|
21740303 |
Leukemia Myeloid |
Associate
|
8704165 |
Leukemia Myeloid Acute |
Associate
|
11264190, 11559933, 12358902, 21740303, 21790247, 8219215, 8634413 |
Leukemia Myelomonocytic Chronic |
Associate
|
32763828 |
Lown Ganong Levine Syndrome |
Associate
|
28331615 |
Lung Neoplasms |
Inhibit
|
35092496 |
Lupus Erythematosus Systemic |
Associate
|
25418955, 25611806, 28564495, 31790472, 34847931, 36306362, 39818255 |
Lupus Erythematosus Systemic |
Stimulate
|
32730703 |
Lupus Nephritis |
Stimulate
|
31507612 |
Lymphangioleiomyomatosis |
Associate
|
34312290 |
Lymphatic Metastasis |
Associate
|
32925784 |
Lymphoma Large B Cell Diffuse |
Associate
|
23487038 |
Lymphoma Primary Effusion |
Associate
|
31666375 |
Melanoma |
Associate
|
18511292, 20398276, 21197417, 28331615, 32316408, 39237877 |
Microscopic Polyangiitis |
Associate
|
39672520 |
Mitochondrial Diseases |
Stimulate
|
35092496 |
Mouth Diseases |
Associate
|
21389130 |
Multiple Myeloma |
Associate
|
17300840, 35760800 |
Multiple Sclerosis |
Associate
|
18511806 |
Multiple Sclerosis Relapsing Remitting |
Inhibit
|
27036414 |
Muscular Atrophy |
Associate
|
22096509 |
Muscular Atrophy Spinal |
Associate
|
11147573 |
Myelodysplastic Syndromes |
Associate
|
12358902, 18084608, 19345417, 21790247 |
Myelodysplastic Syndromes |
Inhibit
|
8219215 |
Myocardial Infarction |
Associate
|
38277520 |
Myocardial Ischemia |
Associate
|
38277520 |
Myocardial Reperfusion Injury |
Associate
|
27310137 |
Myositis |
Associate
|
25098831 |
Nasopharyngeal Carcinoma |
Associate
|
27149165 |
Nasopharyngeal Neoplasms |
Associate
|
27149165 |
Neoplasm Metastasis |
Associate
|
21964766, 27866197, 28922552, 30485581, 31113461, 32925784, 37303492, 37761960 |
Neoplasm Metastasis |
Inhibit
|
30203045 |
Neoplasms |
Inhibit
|
10508275, 10942060, 11264190, 11323500, 11454803, 11818340, 16636311, 16679314, 17942705, 19129219, 19574175, 19851330, 20457620, 20817723, 20947504, 21197417, 21245151, 21790247, 22890831, 23785404, 24004452, 26011589, 27279136, 32784074 View all (9 more) |
Neoplasms |
Associate
|
11711624, 16241857, 16371631, 16413538, 18694960, 19502235, 20717669, 23071666, 23807161, 26460486, 27176664, 27426982, 27866197, 28494868, 30305853, 30485581, 32925784, 34158547, 34220848, 34743576, 35127252, 35926468, 36481790, 36700205 View all (9 more) |
Neoplasms |
Stimulate
|
32081834, 33902005 |
Neoplasms Germ Cell and Embryonal |
Associate
|
12942126 |
Neural Tube Defects |
Associate
|
15082491, 19345417, 8219215 |
Neuroblastoma |
Associate
|
23071666 |
Organizing Pneumonia |
Associate
|
28564495 |
Osteosarcoma |
Associate
|
31337976 |
Ovarian Neoplasms |
Associate
|
10376977, 20717669, 27806724, 35820543 |
Pancreatic Neoplasms |
Associate
|
11454803, 35677632, 36952469 |
Paraparesis Tropical Spastic |
Associate
|
35835355 |
Parkinson Disease |
Associate
|
28331615 |
Pemphigus |
Associate
|
32926429 |
Periodontal Diseases |
Associate
|
22995210 |
Periodontitis |
Associate
|
32210958, 37090158 |
Polycystic Ovary Syndrome |
Associate
|
28068351, 37140276 |
Primary Myelofibrosis |
Associate
|
32331228 |
Prostatic Neoplasms |
Associate
|
24886089 |
Respiratory Distress Syndrome |
Associate
|
16689659, 34418997 |
Sarcoidosis |
Associate
|
24768588 |
Sarcoma Clear Cell |
Associate
|
39567011 |
Scleroderma Localized |
Associate
|
37372943 |
Sexual Dysfunction Physiological |
Associate
|
28331615 |
Sjogren's Syndrome |
Associate
|
17075845, 29504848 |
Skin Manifestations |
Associate
|
15082491, 19345417 |
Sleep Apnea Obstructive |
Associate
|
22077067 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
35664436 |
Status Asthmaticus |
Associate
|
17947510, 27836955 |
Stomach Neoplasms |
Associate
|
19697121, 19851330, 20507321, 22531515, 23785404, 24927122, 27866197, 31113461, 31659258, 36519208, 37951921 |
Stomatitis Aphthous |
Stimulate
|
21805152 |
Stroke |
Associate
|
38277520 |
Thrombosis |
Associate
|
38277520 |
Thyroiditis Autoimmune |
Associate
|
21757724 |
Tuberculosis |
Associate
|
34213077, 37460564 |
Tuberculosis Meningeal |
Stimulate
|
34213077 |
Tuberculosis Pulmonary |
Associate
|
34213077 |
Urethral Neoplasms |
Associate
|
37247083 |
Urinary Bladder Neoplasms |
Associate
|
17617740 |
Uterine Cervical Neoplasms |
Associate
|
10702232, 11739693, 19574175, 33076322 |
Uveal melanoma |
Associate
|
31025552, 34743576 |
Uveitis |
Associate
|
36834715 |
Vasculitis |
Associate
|
15082491, 36797040 |
Virus Diseases |
Associate
|
11711624, 21411754 |
Virus Diseases |
Stimulate
|
17942705 |
Vitamin D Deficiency |
Associate
|
31871426 |
Vitiligo |
Associate
|
28129744 |
|