Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Antithrombin deficiency |
Antithrombin III Deficiency, Hereditary Antithrombin Deficiency |
rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560, rs121909561, rs121909562, rs121909563, rs121909564, rs121909567, rs2102789885, rs2102784614, rs2102778876, rs121909569, rs387906575, rs121909570, rs121909571, rs121909572, rs121909573, rs2102773181, rs2102772927, rs483352856, rs483352854, rs786204063, rs863224495, rs542881762, rs758087836, rs1487411568, rs1460568494, rs1572088775, rs1572088823, rs1572088853, rs1572090173, rs1572091783, rs1572091831, rs1572092076, rs1572092103, rs1572086894, rs1572088865, rs765445413, rs1572090305, rs1572090368, rs1572088348, rs1572090079, rs1449772752, rs1657909645 View all (41 more) |
7959685, 2013320, 1906811, 3179438, 16620552, 24956267, 26748602, 9845533, 6582486, 11794707, 10997988, 7832187, 16908819, 7994035, 12595305, 15164384, 28317092, 7981186, 3080419, 9031473, 8274732, 2365065, 2794060, 2229057, 27322195, 28300866, 24082793, 12894857, 31064749, 23910795, 3805013, 6435583, 9157604, 12353073, 7878627, 1547341, 1469094, 24684277, 1873224, 2615648, 24162787, 11713457, 8443391, 1555650, 3191114, 2781509, 21325262, 7734359, 7989582, 3162733, 8486379, 9759613 View all (37 more) |
Hereditary thrombophilia |
Hereditary thrombophilia due to congenital antithrombin deficiency |
rs121918146, rs121918122, rs761776963 |
|
Liver failure |
Liver Failure, Acute |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 View all (10 more) |
4089794 |
Nephrotic syndrome |
Nephrotic Syndrome |
rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 View all (152 more) |
11304663 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Coronary syndrome |
Acute Coronary Syndrome |
|
7923645 |
ClinVar |
Insomnia |
Insomnia |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
18 Hydroxylase deficiency |
Associate
|
36268972 |
Acquired Immunodeficiency Syndrome |
Inhibit
|
37501065 |
alpha 1 Antitrypsin Deficiency |
Associate
|
12595305 |
Alzheimer Disease |
Stimulate
|
8362984 |
Amyloid angiopathy |
Associate
|
8362984 |
Anemia Sickle Cell |
Associate
|
23249216, 35822297 |
Antithrombin deficiency type 2 |
Associate
|
17492649, 18480576, 20435622, 23910795, 24162787, 24583439, 27708219, 28317092, 28743742, 30608445, 37201530, 8274732 |
Antithrombin deficiency type 2 |
Inhibit
|
24583439 |
Antithrombin deficiency type 2 |
Stimulate
|
39265995 |
Antithrombin III Deficiency |
Associate
|
10997988, 12595305, 1469094, 1520874, 17244682, 17492649, 18480576, 20435622, 2066426, 23910795, 24824609, 25811371, 26748602, 27003919, 27279637, 28303970, 28317092, 2983542, 31554754, 3162535, 32252658, 34207366, 34324211, 34800304, 3512602, 35218943, 35486842, 35764313, 36343066, 36351615, 3663935, 36764659, 36902454, 37501065, 37670493, 37929439, 39423957, 40339963, 6582486, 7994035, 8274732, 9763552 View all (27 more) |
Antithrombin III Deficiency |
Inhibit
|
1469094, 1868237, 32252658, 32422680, 37201530, 6305982, 9763552 |
Arteriovenous Fistula |
Associate
|
23411429 |
Arthritis Infectious |
Associate
|
12010802 |
beta Thalassemia |
Associate
|
10606878, 17911195 |
Blood Coagulation Disorders |
Associate
|
23722320, 24349325, 25119470, 28174134, 30594242, 35062299, 37501065, 8652818 |
Blood Coagulation Disorders |
Inhibit
|
25811371, 8362984 |
Bronchopulmonary Dysplasia |
Inhibit
|
25474412 |
Bronchopulmonary Dysplasia |
Associate
|
37839510 |
Brugada Syndrome |
Associate
|
23276942 |
Carcinoma Hepatocellular |
Inhibit
|
23031791 |
Carcinoma Hepatocellular |
Associate
|
26414287 |
Carcinoma Ovarian Epithelial |
Associate
|
31718609 |
Carcinoma Squamous Cell |
Inhibit
|
29851300 |
Cardiomyopathy Dilated |
Associate
|
18480576 |
Cardiovascular Diseases |
Associate
|
23411630, 29112333 |
Carotid Artery Thrombosis |
Associate
|
11279641, 23910795 |
Cerebral Infarction |
Associate
|
8443391 |
Chronic Limb Threatening Ischemia |
Associate
|
19356951 |
Cognitive Dysfunction |
Associate
|
3567355 |
Colorectal Neoplasms |
Associate
|
30542696 |
Congenital Abnormalities |
Associate
|
3179448 |
Congenital disorder of glycosylation type 1A |
Associate
|
33583911 |
Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate
|
39423957 |
Coronary Aneurysm |
Associate
|
29207079 |
Coronary Artery Disease |
Associate
|
10440909, 29207079 |
Coronary Restenosis |
Associate
|
10440909 |
COVID 19 |
Associate
|
37371071 |
Critical Illness |
Associate
|
19356951 |
Death |
Associate
|
28174134 |
Diabetes Mellitus Type 1 |
Associate
|
1520874 |
Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
8362984 |
Disseminated Intravascular Coagulation |
Inhibit
|
12010802, 18088351 |
Disseminated Intravascular Coagulation |
Associate
|
29851300 |
Dysprothrombinemia |
Associate
|
34256393 |
Endometrial Hyperplasia |
Associate
|
21489304 |
Endometriosis |
Associate
|
37572646 |
Exfoliation Syndrome |
Stimulate
|
30842085 |
Fetal Death |
Associate
|
20664396 |
Fever |
Associate
|
9763552 |
Fibrosis |
Associate
|
11773044 |
Fibrosis |
Inhibit
|
23031791 |
Genetic Diseases Inborn |
Associate
|
10556190 |
Gliosis |
Associate
|
8362984 |
Glomerulonephritis IGA |
Stimulate
|
30547763 |
Glucosephosphate Dehydrogenase Deficiency |
Inhibit
|
35822297 |
Glycogen Storage Disease XIV |
Associate
|
40225925 |
Hearing Loss Sensorineural |
Associate
|
3567355 |
Heart Diseases |
Inhibit
|
29366986 |
Hemophilia B |
Associate
|
26023895 |
Hemorrhage |
Associate
|
11238089, 19563500, 26023895 |
Heparin Cofactor II Deficiency |
Associate
|
1469094 |
Hodgkin Disease |
Associate
|
32235718 |
HTLV I Infections |
Associate
|
35062299 |
Hyperhomocysteinemia |
Associate
|
18612269 |
Hyperlipoproteinemia Type II |
Associate
|
26748602 |
Hypersensitivity Immediate |
Associate
|
10997988, 20435622, 32252658, 33419227, 36268972 |
Hypersensitivity Immediate |
Inhibit
|
32252658 |
Ichthyosis prematurity syndrome |
Associate
|
37839510 |
Idiopathic Noncirrhotic Portal Hypertension |
Associate
|
34052252 |
Immunologic Deficiency Syndromes |
Associate
|
15140129 |
Infant Newborn Diseases |
Associate
|
8274732 |
Infections |
Associate
|
15140129 |
Inflammation |
Inhibit
|
12010802, 30896875 |
Inflammation |
Associate
|
29207079 |
Inflammatory Bowel Diseases |
Associate
|
25878173 |
Intracranial Thrombosis |
Associate
|
12595305, 36351615 |
Ischemia |
Associate
|
19356951 |
Kidney Failure Chronic |
Associate
|
25887069 |
Leg Ulcer |
Associate
|
11279641 |
Leukemia Lymphocytic Chronic B Cell |
Stimulate
|
21812019 |
Lung Diseases |
Associate
|
37839510 |
Lung Neoplasms |
Associate
|
29851300 |
Lupus Erythematosus Systemic |
Stimulate
|
15934123 |
Lymphoma |
Associate
|
18056677 |
Membranous Obstruction of Inferior Vena Cava |
Associate
|
34324211 |
Meningioma |
Associate
|
25413266 |
Mucocutaneous Lymph Node Syndrome |
Associate
|
29207079 |
Multiple Sclerosis |
Stimulate
|
23762311 |
Nasopharyngeal Carcinoma |
Associate
|
30896875 |
Neonatal hemochromatosis |
Associate
|
11773044 |
Neoplasms |
Associate
|
17503403, 18056677, 25413266 |
Neoplasms |
Stimulate
|
30896875 |
Neoplasms by Site |
Associate
|
10997988 |
Neoplastic Syndromes Hereditary |
Associate
|
22716977, 2983542, 36268972 |
Neuralgia Postherpetic |
Associate
|
37966014 |
Obstetric Labor Complications |
Associate
|
34653293 |
Ovarian Hyperstimulation Syndrome |
Associate
|
11872195 |
Paroxysmal ventricular fibrillation |
Associate
|
18980758 |
Peripheral Arterial Disease |
Associate
|
19356951 |
Plaque Amyloid |
Associate
|
8362984 |
Prodromal Symptoms |
Associate
|
19356951 |
Protein S Deficiency |
Stimulate
|
11932669 |
Protein S Deficiency |
Inhibit
|
28607330 |
Proteinuria |
Associate
|
30547763 |
Pulmonary Disease Chronic Obstructive |
Associate
|
10954247, 25329998 |
Pulmonary Embolism |
Associate
|
28174134, 3169232, 9746774 |
Recurrence |
Associate
|
1868237 |
Renal Insufficiency |
Associate
|
15882280 |
Retinal Vein Occlusion |
Inhibit
|
18160589 |
Retinal Vein Occlusion |
Associate
|
29747524 |
Retroperitoneal liposarcoma |
Associate
|
36438917 |
Schizophrenia |
Associate
|
29249827 |
Schizophrenia |
Stimulate
|
29249827 |
Stenosis Pulmonary Artery |
Associate
|
10898281 |
Stroke |
Associate
|
23910795, 34979665 |
Superior Mesenteric Artery Syndrome |
Associate
|
29747524 |
Takayasu Arteritis |
Associate
|
10072118 |
Thromboembolism |
Associate
|
1541698, 1868237, 20824408, 25119470, 28607330, 29366986, 32252658, 37501065, 6305982, 7989582, 9763552 |
Thrombophilia |
Associate
|
16607693, 19558686, 19903694, 23406614, 23411429, 27855570, 28075532, 29747524, 30637129, 35486842, 38309434 |
Thrombophilia |
Inhibit
|
37501065 |
Thrombophilia hereditary |
Associate
|
28075532, 34207366, 36902454, 9746774 |
Thrombophlebitis |
Associate
|
6582486 |
Thrombosis |
Associate
|
10072118, 10954247, 12591924, 12595305, 15140129, 1536946, 17244682, 18612269, 22498748, 22716977, 23910795, 24758255, 24824609, 25811371, 26748602, 27003919, 27279637, 2776881, 2983542, 3162535, 3162733, 32422680, 32457982, 33419227, 35486842, 36764659, 4199363, 8443391, 9746774, 9763552 View all (15 more) |
Tuberculosis |
Stimulate
|
25187886 |
Tumor Lysis Syndrome |
Associate
|
37201530 |
Upper Extremity Deep Vein Thrombosis |
Associate
|
15262837 |
Uveal melanoma |
Associate
|
33120861 |
Venous Thromboembolism |
Associate
|
12239149, 1469094, 22581447, 22812604, 23150947, 25341889, 32457982, 34653293, 35112923, 36268972, 36764659, 39675565, 40339963 |
Venous Thrombosis |
Associate
|
11279641, 15140129, 17244682, 18349091, 1906811, 19139080, 23910795, 25811371, 26982741, 27279637, 30608445, 34324211, 7742536, 9746774 |
Ventricular Dysfunction Left |
Associate
|
35831174 |
Warfarin syndrome |
Associate
|
24162787, 3663935 |
X Linked Combined Immunodeficiency Diseases |
Associate
|
36343066 |
|