Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anemia |
Anemia |
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) |
|
Burkitt`s lymphoma |
Burkitt Lymphoma |
rs28933407, rs121918683, rs121918684 |
19129520, 18408710, 23751147, 19770381 |
Common variable immunodeficiency |
Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, IMMUNODEFICIENCY, COMMON VARIABLE, 13 |
rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365 View all (35 more) |
26981933, 21548011 |
Diabetes mellitus |
Diabetes Mellitus, 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) |
25751624 |
Diffuse lymphoma |
Diffuse Large B-Cell Lymphoma |
rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291 |
|
Lymphoblastic leukemia |
Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor B-cell lymphoblastic leukemia, LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2, Precursor B-cell acute lymphoblastic leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
19684604, 29632299, 24141364, 29296818, 23996088, 23751147, 19129520, 18408710, 19770381, 29348612, 19684603, 22076464, 23512250 |
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) |
|
Lymphoma |
Lymphoma |
rs11540652, rs1592119138, rs1592123162, rs1599367044 |
11980663 |
Multiple myeloma |
Multiple Myeloma |
rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612 View all (38 more) |
29594489 |
Pancytopenia |
Pancytopenia due to IKZF1 mutations |
rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820 |
|
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Myocardial infarction |
Myocardial Infarction |
|
|
ClinVar |
Nasopharyngeal carcinoma |
Nasopharyngeal carcinoma |
These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. |
20512145 |
ClinVar, CBGDA |
Pancreatitis |
Pancreatitis |
|
|
ClinVar |
Diabetes |
Diabetes |
|
|
GWAS |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Eczema |
Eczema |
|
|
GWAS |
Crohn Disease |
Crohn Disease |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
Rheumatoid arthritis |
Rheumatoid arthritis |
|
|
GWAS |
Ulcerative colitis |
Ulcerative colitis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
22q11 Deletion Syndrome |
Associate
|
34410295 |
Adenocarcinoma |
Associate
|
38644767 |
Adenocarcinoma of Lung |
Associate
|
32787735 |
Anemia |
Associate
|
17934067, 32845957, 37833543 |
Anemia Diamond Blackfan |
Associate
|
34162668 |
Arthritis Psoriatic |
Inhibit
|
33568645 |
Arthritis Rheumatoid |
Inhibit
|
33568645, 35883614 |
Arthritis Rheumatoid |
Associate
|
40048636 |
Ataxia Telangiectasia |
Associate
|
34980595 |
Autoimmune Diseases |
Associate
|
28552951, 33031316 |
Autoimmune Lymphoproliferative Syndrome |
Associate
|
35058929 |
Blast Crisis |
Associate
|
24673583, 35815090 |
Blast Injuries |
Associate
|
34505882 |
Bone Marrow Diseases |
Associate
|
33369444 |
Brain Neoplasms |
Associate
|
31320627 |
Breast Neoplasms |
Associate
|
24098497, 35253733 |
Bronchiolitis Obliterans Syndrome |
Stimulate
|
37231055 |
Burkitt Lymphoma |
Associate
|
24522918 |
Carcinogenesis |
Associate
|
33977077, 35525905 |
Carcinoma Renal Cell |
Associate
|
27173324 |
Chromosome 7 monosomy |
Associate
|
25331116, 26069293 |
Chromosome 7 trisomy 7p |
Associate
|
23065506 |
Colitis Ulcerative |
Associate
|
32908909 |
Colonic Neoplasms |
Associate
|
21737484, 38644767 |
Colorectal Neoplasms |
Associate
|
21737484, 24485021, 25928810, 26445409, 27726312, 29796114, 32958500, 33478584, 33723131, 35000264, 35253733, 35290664, 37438612, 37755164, 37901447, 38644767 View all (1 more) |
Common Variable Immunodeficiency |
Associate
|
26981933, 35479066 |
Crohn Disease |
Associate
|
21383526 |
Death |
Associate
|
26018335, 26131904, 27067989, 34410295 |
Diabetes Mellitus Type 1 |
Associate
|
21270240 |
Down Syndrome |
Associate
|
34560013 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
19138562, 30228232 |
Evans Syndrome |
Associate
|
32845957 |
Fanconi Anemia Complementation Group J |
Associate
|
31784504 |
Gastrointestinal Diseases |
Associate
|
34162668 |
Genetic Diseases Inborn |
Associate
|
21737484, 24055949 |
Genetic Diseases Inborn |
Inhibit
|
35132195 |
Graft vs Host Disease |
Associate
|
37231055 |
Hemangioblastoma |
Associate
|
26768750 |
Hematologic Diseases |
Associate
|
24324784, 32845957, 33031316 |
Hematologic Neoplasms |
Associate
|
10753856, 22422485, 24324784 |
HIV Infections |
Associate
|
38286172 |
Hypoxia |
Associate
|
27899802 |
Immune System Diseases |
Associate
|
35058929, 38438084 |
Immunologic Deficiency Syndromes |
Associate
|
29889099, 32845957, 34162668, 34920454 |
Infections |
Associate
|
25761407, 25806972 |
Inflammation |
Associate
|
28542447, 33568645, 34649980, 34917094, 35815090 |
Inflammatory Bowel Diseases |
Associate
|
29991969 |
Job Syndrome |
Associate
|
35132195 |
Leukemia |
Associate
|
11489963, 11745366, 11937265, 18650450, 21960589, 22106042, 22875627, 24324784, 24564228, 26655717, 27067989, 27899802, 28751559, 31487824, 33531656, 35525905, 35534777, 9892693 View all (3 more) |
Leukemia B Cell |
Inhibit
|
22106042 |
Leukemia B Cell |
Associate
|
22848414, 24673583, 29889099, 32138279 |
Leukemia Biphenotypic Acute |
Associate
|
19138562, 25790293, 26018335, 26655717, 32058318, 32138279, 32661308, 33890726, 34410295, 34957727, 37345307 |
Leukemia Biphenotypic Acute |
Inhibit
|
25678190 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
11054064, 24324784, 27198500 |
Leukemia Lymphoma Adult T Cell |
Associate
|
11937265 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
12648068, 18650450, 19589926, 20082691, 29967129, 35815090, 35896598 |
Leukemia Myeloid |
Associate
|
18519632 |
Leukemia Myeloid Acute |
Associate
|
11054064, 22422485, 22581002, 25331116, 26069293, 32011516, 33081843, 33560403, 33911178, 35534777, 35562747, 35708137, 36442087, 37833543, 38096371 |
Leukemia Myeloid Chronic Phase |
Associate
|
32782381 |
Leukemia Promyelocytic Acute |
Associate
|
26886259 |
Leukemia T Cell |
Associate
|
11054064 |
Lung Neoplasms |
Associate
|
23580163 |
Lupus Erythematosus Systemic |
Associate
|
22046141, 23236436, 26200652, 29945920, 33031316, 33727237 |
Lymphoma |
Associate
|
27588474 |
Lymphoma B Cell |
Associate
|
22106042, 35887217 |
Lymphoma Large B Cell Diffuse |
Associate
|
10753856 |
Lymphoma Primary Effusion |
Associate
|
29954751 |
Lymphoma T Cell |
Associate
|
15015965, 34936696 |
malar rash |
Associate
|
33031316 |
Multiple Myeloma |
Associate
|
24292625, 24914135, 26183205, 26269456, 26430725, 27142104, 27881177, 28052520, 28643330, 29729093, 30228232, 30234487, 30696815, 30760870, 30898137, 31015454, 31915234, 32591583, 33284947, 33547076, 35414773, 36196173, 37934799, 39704419 View all (9 more) |
Muscular Dystrophy Duchenne |
Associate
|
34922439 |
Myeloproliferative Disorders |
Associate
|
27415155 |
Neoplasm Metastasis |
Associate
|
32787735 |
Neoplasm Metastasis |
Inhibit
|
35815090 |
Neoplasms |
Associate
|
11489963, 19138562, 21531982, 21737484, 25869284, 25928810, 26445409, 26575185, 27144525, 27726312, 29796114, 32787735, 32845957, 32958500, 33478584, 34505882, 34583995, 35000264, 35035899, 35253733, 35290664, 35525905, 35896598, 37596276, 37901447 View all (10 more) |
Neoplasms |
Inhibit
|
22106042, 24522918, 26069293, 26655717, 28030830, 31846142, 32138279, 33467550, 33531656, 35534777, 35815090, 37767021 |
Neoplasms Squamous Cell |
Inhibit
|
31846142 |
Neoplastic Syndromes Hereditary |
Associate
|
29763621 |
Neural Tube Defects |
Associate
|
36442087 |
Neuroblastoma |
Associate
|
15606754 |
Neutropenia |
Associate
|
32845957 |
Opportunistic Infections |
Associate
|
37231055 |
Pancreatic Neoplasms |
Associate
|
26023084, 38644767 |
Pdgfrb Associated Chronic Eosinophilic Leukemia |
Associate
|
32011516 |
Periodontitis |
Associate
|
34859622 |
Philadelphia Chromosome |
Associate
|
23521501, 26892479, 30190342, 33895809 |
Pituitary Neoplasms |
Associate
|
12937159 |
Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
22848414, 23930217, 23974192, 24324784, 24366361, 24578304, 26655717, 29498923, 30487223, 30874617, 34547766, 37419244 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
11937265, 18650450, 19129520, 19589926, 19684604, 20042726, 21270240, 21740479, 22848414, 22875627, 23065506, 23508010, 23521501, 23585525, 23692655, 23930217, 24141364, 24564228, 24740809, 24786325, 24976218, 25310577, 25761407, 25806972, 26018335, 26069293, 26131904, 26517351, 26655717, 26790447, 26981933, 27067989, 27161658, 27198500, 27391346, 27588474, 27644650, 27885263, 27899802, 28030830, 28555080, 28751559, 28994305, 29498923, 29507076, 29763621, 29889099, 29957452, 30190342, 30874617, 30940639, 31096545, 31604453, 31869410, 33081843, 33452870, 33890726, 34162668, 34410295, 35932035, 36833191, 37340093, 37767021, 37833543, 38637852, 39210321, 39390455, 39676312, 40295826, 9892693 View all (55 more) |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
19684604 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Inhibit
|
21960589, 24522918, 25261097, 27229714, 27419633, 29247779, 34477813, 35132195 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Inhibit
|
11937265, 33467550 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
12028018, 19138562, 22237106, 23521501, 26404892, 27604872, 29889099, 30874617, 34560013, 34980595, 36281717, 36833191, 37345307, 39940843 |
Prodromal Symptoms |
Associate
|
32958500 |
Propping Zerres syndrome |
Associate
|
25261097 |
Pulmonary Disease Chronic Obstructive |
Associate
|
36655999 |
Recurrence |
Associate
|
26131904 |
Severe Combined Immunodeficiency |
Associate
|
37771582 |
Short QT Syndrome 1 |
Associate
|
32328155 |
Squamous Cell Carcinoma of Head and Neck |
Inhibit
|
16309199 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
34091115 |
Stomach Neoplasms |
Associate
|
35874675 |
Syndrome |
Associate
|
35058929 |
Synovitis |
Associate
|
33568645 |
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities |
Associate
|
37156894 |
Thrombocytopenia |
Associate
|
32845957, 37833543 |
X Linked Combined Immunodeficiency Diseases |
Associate
|
29889099, 37771582 |
|