Causal |
Disease term |
Disease name |
dbSNP ID |
References |
C3 deficiency |
Complement component 3 deficiency |
rs112996548, rs111595742, rs1568229677, rs1599518940 |
4117597 |
Complement component deficiency |
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE, Complement deficiency disease |
rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814 View all (29 more) |
4117597, 18796626, 15781264, 26471127, 7961791 |
Diabetes mellitus |
Diabetes Mellitus, Non-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) |
20504758 |
Hemolytic uremic syndrome |
Hemolytic-Uremic Syndrome, Atypical Hemolytic Uremic Syndrome, Atypical hemolytic uremic syndrome with complement gene abnormality |
rs398124292, rs121964913, rs33972593, rs460897, rs121909590, rs121909583, rs460184, rs104886189, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868, rs886043418, rs1057516191, rs1131690796, rs1553273733, rs1553251787, rs777787526, rs769742294, rs775015499, rs1555599211, rs1558162157, rs1600410451, rs368615806, rs1573026975, rs1573087200, rs1571588257, rs147972030, rs1906529223, rs749415630, rs1573076111, rs1300996807, rs1571616755, rs1571617647, rs1579173999, rs1599510478 View all (24 more) |
26471127 |
Hypertension |
Hypertensive disease |
rs13306026 |
|
Age-related macular degeneration |
Age related macular degeneration, Macular Degeneration, Age-Related, 9, NON RARE IN EUROPE: Age-related macular degeneration |
rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475 View all (20 more) |
17767156, 20385826, 23455636, 20861866, 29346644, 24036952, 20385819, 24036949, 24036950, 22705344, 26691988, 21665990, 17634448 |
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) |
|
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
C3 glomerulopathy |
C3 glomerulopathy |
|
26471127 |
ClinVar |
Hemolytic Uremic Syndrome |
atypical hemolytic-uremic syndrome with C3 anomaly |
|
|
GenCC |
C3 Glomerulonephritis |
C3 glomerulonephritis |
|
|
GenCC |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Macular Degeneration |
Macular Degeneration |
|
|
GWAS |
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 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Abortion Spontaneous |
Associate
|
30131807 |
Acute Kidney Injury |
Associate
|
25523333, 33801801 |
Adenocarcinoma |
Associate
|
9528886 |
Alternating hemiplegia of childhood |
Associate
|
20852386, 21555552, 33519811 |
Alzheimer Disease |
Associate
|
21403675, 32831200, 35387811 |
Anemia Sickle Cell |
Associate
|
30630982 |
Arthritis Rheumatoid |
Associate
|
32884942, 3486637 |
Asthma |
Associate
|
32817007 |
Astrocytoma |
Associate
|
10349852 |
Atherosclerosis |
Associate
|
22194611, 31829184 |
Atrial Fibrillation |
Associate
|
36042613 |
Atypical Hemolytic Uremic Syndrome |
Associate
|
18796626, 19590060, 22246034, 22669319, 25608561, 25879158, 31522186, 35069568 |
Basal Laminar Drusen |
Associate
|
22933840 |
Behcet Syndrome |
Associate
|
26269006 |
Bone Diseases |
Associate
|
37816044 |
Brachydactyly Type D |
Stimulate
|
28504607 |
Brain Diseases |
Associate
|
23028511 |
Brain Injuries |
Associate
|
24475278 |
Breast Neoplasms |
Associate
|
20237941, 21871081, 33658651, 35403306 |
Buschke Ollendorff syndrome |
Associate
|
31616421 |
Carcinoma Hepatocellular |
Associate
|
10931136, 23935864, 26540347, 31136099, 33176600, 33633112 |
Carcinoma Non Small Cell Lung |
Associate
|
26462029, 28371058, 37291119 |
Carcinoma Renal Cell |
Associate
|
34688260 |
Cardiomyopathy Hypertrophic |
Associate
|
31243064 |
Colitis Microscopic |
Associate
|
35301900 |
Colitis Ulcerative |
Associate
|
8504966 |
Colorectal Neoplasms |
Associate
|
11862418 |
Compassion Fatigue |
Stimulate
|
37308987 |
Complement Factor H Deficiency |
Associate
|
29592796, 33519811 |
Complement Factor H Deficiency |
Stimulate
|
29874282, 30975435 |
Conjunctival Diseases |
Associate
|
28918083 |
Coronary Artery Disease |
Associate
|
30611277, 31829184 |
COVID 19 |
Associate
|
32961333, 35032429, 35064759, 36805858, 37244049 |
COVID 19 |
Stimulate
|
35064759 |
Creutzfeldt Jakob Syndrome |
Inhibit
|
27138196 |
Crohn Disease |
Associate
|
10759760 |
Cystic Fibrosis |
Associate
|
1008062 |
Death |
Associate
|
22415003, 26462029, 31844116 |
Diabetes Gestational |
Associate
|
36080270 |
Diabetes Mellitus Type 1 |
Associate
|
27306948 |
Diabetes Mellitus Type 2 |
Associate
|
20019678, 32235466 |
Diabetes Mellitus Type 2 |
Stimulate
|
32819140 |
Diabetic Nephropathies |
Associate
|
34424825 |
Dry Eye Syndromes |
Associate
|
28918083 |
Early Onset Glaucoma |
Associate
|
31844116 |
Endocarditis |
Associate
|
32544089 |
Endometrial Neoplasms |
Associate
|
9314915 |
Endometriosis |
Associate
|
21733505 |
Epilepsy |
Associate
|
20862287 |
Epilepsy Familial Mesial Temporal Lobe |
Associate
|
20862287 |
Epilepsy Temporal Lobe |
Associate
|
20862287 |
Escherichia coli Infections |
Associate
|
33374102 |
Esophageal Squamous Cell Carcinoma |
Associate
|
33650665 |
Fabry Disease |
Associate
|
38304433 |
Fibrosis |
Associate
|
30405606 |
Frontotemporal Dementia |
Associate
|
36064709 |
Gastrointestinal Hemorrhage |
Associate
|
31522186 |
Geographic Atrophy |
Associate
|
19823576, 25962167 |
Glomerulonephritis |
Associate
|
36227893 |
Glomerulonephritis |
Stimulate
|
37713183 |
Glomerulonephritis IGA |
Associate
|
33389462, 37651123 |
Glomerulonephritis Membranoproliferative |
Associate
|
20852386 |
Glycogen Storage Disease Type II |
Associate
|
19117936, 25214719, 32407518 |
Granulomatous Mastitis |
Associate
|
39796280 |
Gray Platelet Syndrome |
Stimulate
|
28707765 |
Heart Diseases |
Associate
|
22246034 |
Heart Failure |
Associate
|
31844116 |
Hematuria |
Associate
|
19590060 |
Hematuria |
Inhibit
|
23963626 |
Hemolytic Uremic Syndrome |
Associate
|
33519811, 33879077 |
Hemorrhage |
Associate
|
31522186 |
Hepatitis Alcoholic |
Associate
|
35490715 |
HIV Infections |
Associate
|
28862830 |
Hyperglycemic Hyperosmolar Nonketotic Coma |
Associate
|
36982499 |
Hypertension |
Associate
|
19590060, 22471352 |
Hypertriglyceridemia |
Associate
|
19828715 |
Hypertrophy Left Ventricular |
Associate
|
31243064 |
Hypothyroidism |
Associate
|
29301248 |
Hypothyroidism Congenital Nongoitrous 2 |
Associate
|
22633261 |
Idiopathic Pulmonary Fibrosis |
Stimulate
|
24958208 |
IgA Deficiency |
Associate
|
22996269 |
IgA Vasculitis |
Stimulate
|
25760949 |
Immunologic Deficiency Syndromes |
Associate
|
25205734, 29874282, 31993713 |
Infections |
Associate
|
36805858 |
Infertility |
Associate
|
21733505 |
Inflammation |
Associate
|
10349852, 22246034, 22674410, 24475278, 25124117, 25214719, 30385096, 34836106, 37173738 |
Inflammation |
Stimulate
|
30032131, 33558694, 35132719, 39673130 |
Inflammatory Bowel Diseases |
Associate
|
20089077 |
Insulin Resistance |
Associate
|
34836106 |
Intestinal Neoplasms |
Associate
|
40312330 |
Kidney Diseases |
Associate
|
25124117, 9648070 |
Kidney Diseases |
Stimulate
|
29555686 |
Kidney Failure Chronic |
Associate
|
19590060, 22246034 |
Latent Tuberculosis |
Stimulate
|
27852671 |
Leprosy |
Associate
|
29565968 |
Leukemia |
Associate
|
31231394 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
22170086 |
Linear IgA Bullous Dermatosis |
Associate
|
28300887 |
Liver Cirrhosis |
Associate
|
38287828 |
Liver Diseases |
Associate
|
23935864 |
Lung Neoplasms |
Associate
|
31854219 |
Lupus Erythematosus Systemic |
Associate
|
18383369, 22949303, 26076826, 28063160, 29884225, 35172900, 35418986, 35543435 |
Lupus Nephritis |
Associate
|
30594048, 30975435, 36104119 |
Lymphatic Metastasis |
Associate
|
33658651 |
Lymphoma B Cell Marginal Zone |
Associate
|
22170086 |
Lymphoma Follicular |
Associate
|
646924 |
Lymphoma Non Hodgkin |
Associate
|
22170086 |
Macular Degeneration |
Associate
|
17634448, 18325906, 19169411, 19202148, 19823576, 20157618, 20664795, 21139680, 21169531, 21197116, 21402993, 21555552, 21906714, 22174912, 22694956, 22933840, 23112567, 23337555, 24453474, 24675670, 24736606, 25124117, 26154559, 26961928, 27099955, 29410599, 29592796, 29801032, 32762675, 33519811, 33618707, 34233521, 35069568, 36036675, 38067097 View all (20 more) |
Macular Degeneration |
Stimulate
|
30820144, 31267090 |
Macular Degeneration Age Related 2 |
Associate
|
23112567 |
Malaria |
Associate
|
34842470 |
Melanoma |
Associate
|
35669782 |
Meningitis Bacterial |
Associate
|
22415003 |
Meningitis Pneumococcal |
Associate
|
22415003 |
Metabolic Syndrome |
Associate
|
19828715 |
Mouth Diseases |
Associate
|
28707765 |
Multiple Sclerosis |
Stimulate
|
23762311 |
Myotonic Dystrophy |
Associate
|
6620325 |
Neoplasm Metastasis |
Inhibit
|
36822455 |
Neoplasms |
Associate
|
26540347, 31136099, 31365168, 31659097 |
Neurocognitive Disorders |
Associate
|
20841369 |
Neuromyelitis Optica |
Associate
|
39457022 |
Noncommunicable Diseases |
Stimulate
|
38187376 |
Nose Diseases |
Associate
|
32724828 |
Obesity |
Associate
|
21203453, 24287500, 24743347, 25415563 |
Obesity |
Stimulate
|
30536591 |
Osteogenesis imperfecta type 1A |
Associate
|
27306948 |
Osteoporosis |
Inhibit
|
29518962 |
Ovarian Neoplasms |
Associate
|
12402151, 28683725 |
Parkinson Disease |
Associate
|
15920296 |
Pneumonia |
Associate
|
35836993 |
Polycystic Ovary Syndrome |
Associate
|
31173497, 32323743, 36980195, 37181037, 40243681 |
Polypoidal Choroidal Vasculopathy |
Associate
|
25388911, 32328755 |
Protein Losing Enteropathies |
Associate
|
35630075 |
Proteinuria |
Associate
|
23963626, 37108355 |
Purpura Thrombocytopenic Idiopathic |
Associate
|
34329516 |
Rectal Neoplasms |
Associate
|
39278399 |
Red Cell Aplasia Pure |
Associate
|
3987091 |
Renal Insufficiency Chronic |
Associate
|
19590060, 32004338 |
Respiratory Distress Syndrome |
Associate
|
32961333 |
Restless Legs Syndrome |
Associate
|
30244532 |
Reticular dysgenesis |
Associate
|
31558345 |
Retinal Detachment |
Associate
|
30142373, 37761846 |
Retinal Drusen |
Associate
|
25214719, 32407518 |
Retinal Vein Occlusion |
Associate
|
27362861, 33270842 |
Retrograde Degeneration |
Associate
|
33558694 |
Scleroderma Diffuse |
Associate
|
33809015, 39273179 |
Scleroderma Systemic |
Associate
|
30885245 |
Seizures Febrile |
Associate
|
20862287 |
Severe Acute Respiratory Syndrome |
Associate
|
34842470 |
Sjogren's Syndrome |
Associate
|
36113315 |
Stevens Johnson Syndrome |
Stimulate
|
31795786 |
Stomach Neoplasms |
Stimulate
|
31928530 |
Thalamic Diseases |
Associate
|
35132719 |
Thyroid Cancer Papillary |
Associate
|
30058426 |
Uveitis Anterior |
Stimulate
|
38187376 |
Uveitis Intermediate |
Associate
|
28408754 |
Uveitis Posterior |
Associate
|
38187376 |
Vasculitis |
Associate
|
2141558, 35747245 |
Vasculitis Leukocytoclastic Cutaneous |
Associate
|
35747245 |
Vision Disorders |
Associate
|
22699975 |
Wounds and Injuries |
Associate
|
30451738 |
|