Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia, Sickle Cell |
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) |
28552477 |
Cystic fibrosis |
Cystic Fibrosis |
rs113993960, rs121908745, rs77101217, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs121909008, rs77010898, rs121909009, rs121909010, rs387906360, rs387906361, rs80034486, rs74767530, rs387906362, rs121909011, rs121908776, rs121909012, rs75961395, rs79850223, rs121908804, rs387906363, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs121909017, rs121909018, rs121909019, rs143570767, rs387906366, rs78194216, rs75528968, rs75039782, rs77902683, rs121908748, rs387906367, rs121909023, rs141158996, rs121908766, rs387906369, rs387906370, rs121909025, rs121909026, rs121908751, rs121908750, rs121909028, rs746418935, rs79282516, rs387906371, rs77409459, rs78802634, rs121909031, rs76554633, rs121909033, rs75115087, rs79633941, rs121908773, rs121909036, rs121909037, rs79635528, rs121908761, rs121908764, rs387906375, rs75389940, rs121909042, rs121908775, rs387906376, rs387906377, rs387906378, rs121909043, rs1797973431, rs387906379, rs121908784, rs121908769, rs121909045, rs387906380, rs267606723, rs121909047, rs75096551, rs193922498, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs193922504, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922509, rs193922510, rs386134230, rs193922514, rs121908797, rs193922515, rs144055758, rs76151804, rs78984783, rs77035409, rs193922519, rs193922520, rs193922521, rs193922523, rs193922524, rs193922526, rs193922528, rs193922532, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs77284892, rs121908779, rs79660178, rs36210737, rs121908749, rs121908763, rs121908792, rs121908794, rs121908801, rs121908796, rs121908772, rs121908768, rs79031340, rs78909279, rs397508136, rs397508137, rs397508138, rs397508139, rs397508140, rs397508141, rs397508144, rs121908774, rs397508146, rs397508148, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508169, rs397508171, rs397508173, rs397508174, rs397508175, rs397508176, rs397508177, rs397508178, rs397508179, rs397508181, rs397508182, rs397508183, rs397508184, rs397508186, rs1800074, rs397508190, rs397508192, rs397508195, rs397508196, rs151020603, rs397508197, rs397508198, rs397508200, rs397508201, rs397508203, rs397508204, rs397508205, rs397508207, rs397508208, rs397508209, rs397508211, rs397508214, rs397508216, rs397508217, rs397508222, rs397508223, rs397508225, rs397508227, rs397508230, rs397508231, rs397508233, rs397508243, rs121908800, rs397508244, rs397508246, rs397508247, rs397508249, rs397508250, rs397508251, rs397508252, rs397508253, rs397508257, rs397508258, rs397508261, rs397508263, rs397508266, rs397508267, rs397508269, rs397508272, rs397508273, rs397508274, rs397508276, rs397508277, rs397508278, rs397508279, rs397508283, rs397508285, rs397508289, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs397508302, rs397508303, rs397508306, rs397508307, rs397508308, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs397508320, rs397508323, rs121908780, rs121908809, rs397508324, rs397508325, rs397508327, rs397508328, rs397508331, rs397508333, rs397508334, rs397508336, rs397508339, rs397508341, rs121908760, rs397508343, rs397508344, rs397508345, rs397508346, rs397508348, rs397508350, rs397508351, rs397508353, rs397508354, rs397508356, rs121908810, rs397508364, rs397508365, rs397508360, rs397508368, rs374946172, rs397508371, rs145449046, rs397508372, rs397508376, rs397508377, rs397508378, rs397508379, rs397508380, rs397508382, rs397508387, rs397508388, rs397508389, rs397508391, rs397508393, rs397508394, rs397508399, rs397508400, rs397508401, rs397508412, rs397508413, rs397508416, rs121908791, rs121909034, rs149790377, rs397508426, rs397508431, rs397508433, rs397508435, rs397508440, rs397508441, rs397508445, rs397508447, rs397508451, rs397508453, rs397508458, rs397508461, rs397508462, rs397508464, rs397508466, rs397508467, rs397508470, rs1562914028, rs397508472, rs397508475, rs397508476, rs397508477, rs397508479, rs397508480, rs397508482, rs397508484, rs121908781, rs397508486, rs397508490, rs1554392027, rs397508493, rs397508496, rs397508498, rs397508499, rs397508500, rs397508503, rs397508505, rs397508506, rs397508509, rs397508510, rs142394380, rs397508514, rs397508516, rs78769542, rs397508517, rs397508518, rs139304906, rs121908798, rs397508524, rs397508525, rs397508528, rs1554392248, rs397508529, rs397508531, rs397508532, rs397508533, rs397508534, rs397508535, rs397508536, rs397508538, rs146521846, rs397508547, rs397508549, rs397508552, rs397508555, rs397508557, rs397508558, rs397508559, rs397508560, rs397508561, rs139729994, rs397508570, rs397508571, rs397508572, rs397508573, rs397508575, rs77834169, rs397508578, rs397508579, rs397508580, rs397508581, rs397508582, rs397508587, rs121908765, rs397508588, rs397508589, rs35396083, rs397508595, rs144781064, rs1554395323, rs397508596, rs397508598, rs397508599, rs397508600, rs397508602, rs397508604, rs397508609, rs397508612, rs397508613, rs397508614, rs397508615, rs397508616, rs397508620, rs146795445, rs397508624, rs387906373, rs397508630, rs121908808, rs397508633, rs397508635, rs397508636, rs397508637, rs397508643, rs397508645, rs397508650, rs397508653, rs397508654, rs397508657, rs397508658, rs397508662, rs397508667, rs397508668, rs397508671, rs397508672, rs397508673, rs397508675, rs397508678, rs397508680, rs397508684, rs397508685, rs397508686, rs397508689, rs76371115, rs397508695, rs397508696, rs397508701, rs397508702, rs372227120, rs397508706, rs397508707, rs397508710, rs397508712, rs397508714, rs397508715, rs397508716, rs374705585, rs121908770, rs397508718, rs397508720, rs397508721, rs397508729, rs397508731, rs397508732, rs397508734, rs397508735, rs397508736, rs397508737, rs397508740, rs397508746, rs121908771, rs397508750, rs1562882675, rs397508758, rs397508759, rs397508760, rs397508761, rs78440224, rs397508762, rs121908793, rs121908802, rs397508764, rs397508767, rs397508768, rs121908803, rs397508771, rs397508775, rs397508777, rs397508778, rs397508781, rs397508782, rs397508783, rs397508784, rs397508791, rs397508794, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508815, rs397508816, rs397508820, rs397508824, rs397515498, rs672601317, rs672601316, rs672601315, rs672601314, rs786204693, rs397508189, rs755416052, rs786205658, rs797045160, rs1805177, rs797045161, rs387906359, rs797045159, rs3034796, rs886042527, rs1057516232, rs1057517342, rs1057516646, rs1057516619, rs1057516387, rs1057516236, rs1057517276, rs1057517068, rs1057517032, rs1057516415, rs780546355, rs1057516970, rs1057516609, rs121908782, rs1057517404, rs754392413, rs1057516457, rs397508683, rs1800135, rs397508709, rs1060503164, rs775663783, rs1554391033, rs1554391489, rs763843966, rs797045156, rs397508294, rs1554379887, rs1554380497, rs397508163, rs121908785, rs1235397597, rs121909005, rs797045162, rs397508355, rs397508405, rs768963919, rs1554392800, rs1554392801, rs1554396393, rs375661578, rs397508669, rs1554397527, rs397508693, rs1554381605, rs766063304, rs773739166, rs1554379899, rs141482808, rs1554380789, rs1290078234, rs1554396384, rs756219310, rs1554390958, rs1554389836, rs1554398510, rs1801178, rs1554390859, rs1554379846, rs1554380311, rs1199914684, rs367934560, rs1554389241, rs762844777, rs750559671, rs1554381596, rs1554388867, rs1554389346, rs397508386, rs1554380465, rs200955612, rs1554397593, rs1554397769, rs1554380828, rs533959068, rs1554384343, rs1351058559, rs1554389062, rs1554390864, rs1554392282, rs1554392798, rs1554397750, rs984281283, rs1554389486, rs1554391454, rs1554391491, rs1554397497, rs758921701, rs1562895066, rs1562928927, rs1330431481, rs1317756653, rs1562876396, rs1562882755, rs397508256, rs1562884046, rs397508522, rs1562889382, rs1562890223, rs193922730, rs1562891084, rs1204521684, rs1562892359, rs1562892387, rs1562892823, rs1562892895, rs1562898465, rs1562898471, rs1562898496, rs1562898510, rs1562907260, rs1562907873, rs397508381, rs1562911661, rs1562911739, rs1562914082, rs1562914107, rs1562914200, rs1562914641, rs779177972, rs1562914838, rs1470125842, rs397508544, rs1562919371, rs1562923164, rs397508601, rs193922732, rs397508661, rs1562928997, rs1562929633, rs1562929636, rs1562895104, rs1562907232, rs1562907896, rs1562908997, rs1562894926, rs750558115, rs1562876459, rs1562895128, rs756206533, rs1481564133, rs1562914072, rs1562923253, rs1562889180, rs1562894928, rs1562906265, rs1562908889, rs1562928854, rs1584789514, rs1584785196, rs1584793546, rs1301983423, rs1408746819, rs1584787119, rs1584784850, rs1584786454, rs1584789226, rs1584793633, rs1584848754, rs397508404, rs1584789180, rs1584787782, rs1584798316, rs397508699, rs1584850283, rs1299250440, rs377447726, rs1584776437, rs1584812217, rs1584837090, rs1584764596, rs1584785072, rs1584786892, rs1584787657, rs1584787716, rs397508811, rs1584789267, rs1584793451, rs1584810167, rs1381239923, rs1584812361, rs1584812425, rs1584812646, rs1584812696, rs1584812777, rs1584817344, rs1584819340, rs1584822237, rs1584830149, rs1584830154, rs1584837173, rs397508666, rs1584848901, rs1584790302, rs1584821306, rs1584824301, rs1584793368, rs1798858347, rs1792366769, rs1792456313, rs1798467599 View all (694 more) |
26417704 |
Papillary renal carcinoma |
Papillary Renal Cell Carcinoma |
rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 |
23797736 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
17013881 |
Renal carcinoma |
Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney |
rs121913668, rs121913670, rs121913243, rs786202724 |
23797736 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chromophobe carcinoma |
Chromophobe Renal Cell Carcinoma |
|
23797736 |
ClinVar |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
Bicuspid aortic valve |
Bicuspid aortic valve |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Stimulate
|
11076872, 15563666 |
Adenocarcinoma |
Associate
|
15461591, 17090193, 17425390, 19236510, 20303649, 38062562 |
Adenocarcinoma |
Inhibit
|
26898938 |
Adenocarcinoma Bronchiolo Alveolar |
Associate
|
32887938 |
Adenocarcinoma in Situ |
Associate
|
17090193 |
Adenocarcinoma of Lung |
Associate
|
14657954, 29317712, 30236127 |
Adenocarcinoma of Lung |
Stimulate
|
8638091 |
Anophthalmia with pulmonary hypoplasia |
Associate
|
27283771 |
Asthma |
Associate
|
34995380 |
Atrial Fibrillation |
Associate
|
33834070 |
Barrett Esophagus |
Associate
|
11076872, 14583090, 15563666 |
Biliary Tract Neoplasms |
Associate
|
18475301 |
Brain Neoplasms |
Associate
|
17090193 |
Breast Neoplasms |
Associate
|
15976813, 16690615, 19761616, 27846863, 29281999, 37239898, 37454130, 38243319 |
Buschke Lowenstein Tumor |
Associate
|
20591909 |
Calcinosis Cutis |
Associate
|
23446997, 30683863 |
Carcinogenesis |
Associate
|
10940270, 14583090, 15461591, 17037983, 23497483, 36400876 |
Carcinoma |
Associate
|
18665193, 24671186, 37905642 |
Carcinoma Adenosquamous |
Stimulate
|
17425390 |
Carcinoma in Situ |
Associate
|
20228782 |
Carcinoma Large Cell |
Associate
|
17425390 |
Carcinoma Medullary |
Associate
|
24437456 |
Carcinoma Mucoepidermoid |
Associate
|
21072847 |
Carcinoma Non Small Cell Lung |
Associate
|
17425390, 23370366, 24947164, 33629637, 8638091 |
Carcinoma Pancreatic Ductal |
Associate
|
15461591, 16049287, 24228110, 24476519, 24714692, 27283771, 33328627 |
Carcinoma Renal Cell |
Associate
|
25753955, 27124015, 28128276, 33501493 |
Carcinoma Squamous Cell |
Stimulate
|
17425390, 20591909, 8638091 |
Carcinoma Squamous Cell |
Associate
|
19188823, 29317712 |
Cardiomyopathy Dilated |
Associate
|
33860048 |
Castleman Disease |
Associate
|
37839777 |
Cholangiocarcinoma |
Associate
|
37324940 |
Colitis Ulcerative |
Associate
|
31826065 |
Colonic Diseases |
Inhibit
|
26898938 |
Colonic Neoplasms |
Associate
|
20564074, 32949121 |
Colorectal Neoplasms |
Associate
|
20564074, 23497483, 23566254, 25124610, 25295732, 25573589, 30236127, 30683863, 31091244, 33431054, 33714943, 37384668, 38492821, 39333321 |
Constriction Pathologic |
Associate
|
22173169 |
Contracture |
Associate
|
30431579 |
COVID 19 |
Associate
|
34448730 |
Crohn Disease |
Associate
|
11559653, 28885228, 34469062, 36817485 |
Cystic Disease Of Lung |
Associate
|
35065708 |
Cystic Fibrosis |
Associate
|
35065708 |
Cysts |
Associate
|
20717734, 30794864 |
Death |
Associate
|
25197366 |
Dermatofibrosarcoma |
Associate
|
35441365 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
20303649 |
Dry Eye Syndromes |
Associate
|
21245952, 37106448 |
Endometrial Neoplasms |
Associate
|
17090193 |
Endometrial Stromal Tumors |
Associate
|
21536545, 25231134, 28558780 |
Endometriosis |
Associate
|
21349170, 24939955, 26285705 |
Eosinophilic Esophagitis |
Associate
|
29691386, 35437997 |
Esophageal Squamous Cell Carcinoma |
Associate
|
17037983, 26673820 |
Fibrosarcoma |
Associate
|
25231134, 25353281, 31592798, 33368602 |
Fibrosis |
Inhibit
|
32887938 |
Fractures Spontaneous |
Associate
|
20591909 |
Gallbladder Neoplasms |
Associate
|
23101681 |
Ganglioneuroblastoma |
Associate
|
31698611 |
Ganglioneuroma |
Associate
|
31698611 |
Gastroesophageal Reflux |
Associate
|
14583090 |
Gastroesophageal Reflux |
Stimulate
|
17037983 |
Glioblastoma |
Associate
|
36400876 |
Glioma |
Associate
|
36400876 |
Growth Disorders |
Associate
|
30431579 |
Hyperplasia |
Associate
|
20591909 |
Hypoxia |
Associate
|
27109098 |
Idiopathic Pulmonary Fibrosis |
Stimulate
|
32887938 |
Infertility |
Associate
|
21349170, 24939955, 26285705 |
Inflammation |
Associate
|
18573283, 20591909 |
Inflammatory Bowel Diseases |
Associate
|
28885228 |
Insulin Resistance |
Associate
|
27477082 |
Intellectual Disability |
Associate
|
30431579 |
Jaundice Obstructive |
Stimulate
|
33328627 |
Leiomyomatosis esophageal and vulval with nephropathy |
Stimulate
|
20591909 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
15461591 |
Leukoplakia |
Associate
|
33544383 |
Leukoplakia Oral |
Associate
|
33544383 |
Lung Neoplasms |
Associate
|
14657954, 23370366, 24204934, 29317712, 29560830, 8638091 |
Lymphatic Metastasis |
Stimulate
|
19761616 |
Lymphatic Metastasis |
Associate
|
23101681, 23152882 |
Melanoma |
Associate
|
16690615, 35688970 |
Melanoma Cutaneous Malignant |
Associate
|
20591909 |
Mesothelioma |
Associate
|
28128276, 29317712 |
Mesothelioma Malignant |
Associate
|
33501493 |
Nasopharyngeal Carcinoma |
Associate
|
33790390 |
Necrosis |
Associate
|
27124015 |
Neoplasm Metastasis |
Stimulate
|
16690615 |
Neoplasm Metastasis |
Associate
|
17406026, 19761616, 20423995, 21059814, 23464473, 25367394, 29281999, 29777904, 38492821 |
Neoplasms |
Associate
|
11418607, 14583090, 14657954, 15563666, 15976813, 16690615, 16891313, 17037983, 17425390, 17595659, 18475301, 18665193, 19127263, 19236510, 19761616, 20423995, 20564074, 21059814, 21072847, 23370366, 23497483, 23921963, 24204560, 24204934, 25197366, 25367394, 25753955, 27124015, 27278378, 27283771, 28060749, 28548128, 29777904, 30107644, 30236127, 31698611, 32164724, 32701958, 32959209, 33141488, 33544383, 33629637, 33714943, 36400876, 36817485, 37097347, 37401119, 37454130, 38062562, 38243319, 38460673, 39238637, 39333321 View all (38 more) |
Neoplasms |
Stimulate
|
17406026, 8638091 |
Neoplasms Glandular and Epithelial |
Associate
|
14657954 |
Neoplasms Squamous Cell |
Associate
|
19188823 |
Neuroblastoma |
Associate
|
31698611, 33172452 |
Non Muscle Invasive Bladder Neoplasms |
Associate
|
39817975 |
Nonsyndromic sensorineural hearing loss |
Associate
|
34567527 |
Oculocutaneous albinism type 2 |
Associate
|
32887938 |
Otitis Media |
Stimulate
|
11350794 |
Otitis Media |
Associate
|
14690056 |
Ovarian Neoplasms |
Associate
|
16880776, 18665193, 23370366, 32650224 |
Pancreatic Intraductal Neoplasms |
Associate
|
20717734, 23921963, 24714692 |
Pancreatic Neoplasms |
Associate
|
10920259, 10938282, 11418607, 15461591, 17406026, 17595659, 18157915, 18381409, 20303649, 20423995, 21059814, 22580602, 24204560, 24714692, 24971005, 25367394, 27109098, 27230679, 27237318, 27283771, 28060749, 29550476, 29777904, 30236127, 30794864, 33082357 View all (11 more) |
Pancreatic Neoplasms |
Stimulate
|
22537161, 23544943 |
Pancreatitis Chronic |
Associate
|
24476519 |
Pemphigus |
Associate
|
37839777 |
Periodontitis |
Associate
|
26686060 |
Philadelphia Chromosome |
Associate
|
37819686 |
Polyps |
Inhibit
|
27705923 |
Precancerous Conditions |
Associate
|
33328627 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
37819686 |
Prostatic Neoplasms |
Associate
|
34512870 |
Pulmonary Disease Chronic Obstructive |
Associate
|
28198987 |
Retinal Dysplasia |
Stimulate
|
11076872 |
Retinal Dysplasia |
Associate
|
23921963 |
Rhabdomyosarcoma Alveolar |
Associate
|
33368602 |
Skin Diseases |
Associate
|
20591909 |
Skin Neoplasms |
Associate
|
30236127 |
Skull Base Neoplasms |
Associate
|
27901492 |
Spinocerebellar Ataxias |
Associate
|
30431579 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
33315534, 33544383, 37080394 |
Stomach Diseases |
Associate
|
23921963, 24714692, 25573589 |
Stomach Neoplasms |
Stimulate
|
10940270 |
Stomach Neoplasms |
Associate
|
18573283, 23152882, 23464473, 26330360, 30236127, 31915505, 32701958 |
Tertiary Lymphoid Structures |
Stimulate
|
19761616 |
Triple Negative Breast Neoplasms |
Associate
|
30366040 |
Urethral Neoplasms |
Inhibit
|
24671186 |
Urinary Bladder Neoplasms |
Associate
|
24671186, 25197366, 30236127 |
Uterine Cervical Dysplasia |
Stimulate
|
15563666 |
Uterine Cervical Dysplasia |
Associate
|
19188823, 23446997 |
Uterine Diseases |
Associate
|
24939955 |
Vasculitis Leukocytoclastic Cutaneous |
Associate
|
20591909 |
von Willebrand Diseases |
Associate
|
28060749 |
Warts |
Stimulate
|
20591909 |
|