|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Severe combined immunodeficiency disease |
t-b+ severe combined immunodeficiency due to jak3 deficiency |
rs786205517, rs137852624, rs774202259, rs1568400897, rs137852625, rs1568404443, rs137852626, rs886039394, rs149316157, rs137852627, rs1599873591, rs755706305, rs193922361, rs749481781, rs1380154594, rs1057523762, rs1011307501, rs193922364, rs761583890, rs1599876167, rs1486760100, rs936493226, rs267605358, rs769633203 View all (9 more) |
N/A |
| severe combined immunodeficiency disease |
Severe combined immunodeficiency disease |
rs1555743321, rs774202259, rs193922361, rs886039394, rs193922364, rs267605358 |
N/A |
| Adenocarcinoma |
adenoid cystic carcinoma |
rs886039394 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
32509861 |
| Agammaglobulinemia |
Associate
|
32691468 |
| Arthritis |
Associate
|
16096332 |
| Arthritis Rheumatoid |
Associate
|
16096332, 16760256, 17223651, 31181818, 36614150 |
| Arthrogryposis |
Associate
|
36466884 |
| Ataxia Telangiectasia |
Associate
|
16170336, 27602765 |
| Axial Spondyloarthritis |
Associate
|
26671920 |
| Breast Neoplasms |
Associate
|
18403594, 23238254, 27119652, 27993161, 31795964, 34572592 |
| Bronchiolitis |
Associate
|
26541527 |
| Calcinosis |
Associate
|
33173427 |
| Carcinogenesis |
Associate
|
20149240, 31049933 |
| Carcinoma Hepatocellular |
Associate
|
8662778, 9933465 |
| Carcinoma Non Small Cell Lung |
Associate
|
29082853, 31599032 |
| Carcinoma Renal Cell |
Associate
|
17898043, 20339477, 27063186, 27174587, 27741505, 36100323 |
| Carcinoma Squamous Cell |
Associate
|
29980281, 30445744 |
| Cardiomyopathies |
Associate
|
39294340 |
| Cardiovascular Diseases |
Associate
|
19282076 |
| Cerebral Infarction |
Associate
|
32960689 |
| Chemical and Drug Induced Liver Injury |
Associate
|
36466884 |
| Cholangiocarcinoma |
Associate
|
38113975 |
| Colonic Neoplasms |
Associate
|
16192633 |
| Colorectal Neoplasms |
Associate
|
16192633, 27756406, 28675510 |
| Cytomegalovirus Infections |
Associate
|
40225147 |
| Dermatitis Atopic |
Stimulate
|
27711196 |
| Diabetes Mellitus |
Associate
|
28427244 |
| Diabetes Mellitus Type 2 |
Associate
|
28427244 |
| Disease Resistance |
Associate
|
35411095 |
| Down Syndrome |
Associate
|
17456055, 18397343 |
| Epidermolysis bullosa simplex Ogna type |
Associate
|
28675510 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
26857264 |
| Fever |
Associate
|
40225147 |
| GATA2 Deficiency |
Associate
|
27297789, 28284718, 33526873, 39276532 |
| Genetic Diseases Inborn |
Associate
|
33040328, 9354668 |
| Graft vs Host Disease |
Associate
|
14525593 |
| Head and Neck Neoplasms |
Associate
|
30777857 |
| Hematologic Neoplasms |
Associate
|
20149240 |
| Hemorrhage |
Associate
|
39276532 |
| Hepatitis B |
Associate
|
33040328 |
| Hidradenitis Suppurativa |
Associate
|
38049071 |
| Hodgkin Disease |
Associate
|
39625996 |
| IgA Vasculitis |
Associate
|
23968543 |
| Immune System Diseases |
Associate
|
23012362, 27063186, 32558259, 35482138 |
| Immunologic Deficiency Syndromes |
Associate
|
14615376, 8676091, 8986719 |
| Infections |
Associate
|
36466884 |
| Inflammation |
Associate
|
14978128, 29530480, 31348552, 32047494, 33590796, 34286840, 39317454 |
| Intervertebral Disc Degeneration |
Associate
|
38095643 |
| Laryngitis |
Associate
|
29700339 |
| Leukemia |
Associate
|
29187379, 35411095 |
| Leukemia Biphenotypic Acute |
Associate
|
34934076 |
| Leukemia Lymphoma Adult T Cell |
Associate
|
10229324 |
| Leukemia Megakaryoblastic Acute |
Associate
|
17456055, 18397343, 20149240 |
| Leukemia Myelomonocytic Juvenile |
Associate
|
38385260 |
| Leukemia Prolymphocytic |
Associate
|
37485976 |
| Leukemia Prolymphocytic T Cell |
Associate
|
24825865 |
| Leukemia T Cell |
Associate
|
18397343 |
| Lichen Planus |
Stimulate
|
27711196 |
| Lung Diseases |
Stimulate
|
39625996 |
| Lung Neoplasms |
Associate
|
26014096 |
| Lupus Erythematosus Cutaneous |
Associate
|
27711196 |
| Lymphoma |
Associate
|
20211620 |
| Lymphoma B Cell Marginal Zone |
Associate
|
29293620 |
| Lymphoma Extranodal NK T Cell |
Associate
|
25980440, 28284718, 31002364, 31822801 |
| Lymphoma Large Cell Anaplastic |
Associate
|
16825495, 19608866 |
| Lymphoma Mantle Cell |
Associate
|
16048411 |
| Lymphoma T Cell |
Associate
|
25205547, 26854024, 31049933, 34895266 |
| Lymphoma T Cell Cutaneous |
Associate
|
21346774, 24523507, 25915535, 26082451, 26244872, 27144517 |
| Lymphoma T Cell Peripheral |
Associate
|
26536348, 30420593 |
| Lymphopenia |
Associate
|
25205547 |
| Melanoma |
Inhibit
|
32051510 |
| Melanoma Cutaneous Malignant |
Associate
|
19626699 |
| Mesothelioma Malignant |
Associate
|
25588929 |
| Mungan Syndrome |
Associate
|
18397343 |
| Mycosis Fungoides |
Associate
|
24621498, 26082451 |
| Myelodysplastic Syndromes |
Associate
|
35396491 |
| Myeloproliferative Disorders |
Associate
|
17456055, 18397343 |
| Myeloproliferative Syndrome Transient |
Associate
|
18397343 |
| Myopathies Structural Congenital |
Associate
|
29700339 |
| Necrosis |
Associate
|
32558259 |
| Neoplasm Metastasis |
Associate
|
25009010 |
| Neoplasm Metastasis |
Inhibit
|
32051510 |
| Neoplasm Metastasis |
Stimulate
|
33083484 |
| Neoplasms |
Associate
|
16778083, 18829468, 19667409, 19812686, 20149240, 20211620, 20339477, 22675565, 23012362, 23238254, 24833526, 25009010, 26244872, 28359267, 29082853, 30914738, 31093971, 32558259, 36100323, 39276532, 39769218 View all (6 more) |
| Neoplasms Squamous Cell |
Associate
|
26379152 |
| Nephrotic Syndrome |
Associate
|
22252769 |
| Neuroendocrine Tumors |
Associate
|
36307579 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
27197286 |
| Obesity |
Associate
|
24058506 |
| Ovarian Neoplasms |
Inhibit
|
25070180 |
| Ovarian Neoplasms |
Associate
|
32639993 |
| Pancreatic Neoplasms |
Associate
|
21455317 |
| Paraganglioma |
Associate
|
35800185 |
| Personality Disorders |
Associate
|
27144517 |
| Pneumonia Pneumocystis |
Associate
|
36466884 |
| Polycythemia |
Associate
|
38244120 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
28245838 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
22237106, 25595890, 26206799, 27602765, 29187379, 35411095 |
| Primary Immunodeficiency Diseases |
Associate
|
32265901 |
| Psoriasis |
Associate
|
27711196 |
| Pulmonary Embolism |
Associate
|
24337368 |
| Pyoderma Gangrenosum |
Stimulate
|
27711196 |
| Respiratory Tract Neoplasms |
Associate
|
40225147 |
| Sarcoma |
Associate
|
27642091 |
| Severe Combined Immunodeficiency |
Associate
|
10075926, 11260071, 14615376, 15831699, 17456055, 20149240, 23001410, 23384681, 24794685, 26321643, 27227461, 28109013, 29713328, 29728406, 30032486, 30778343, 32265901, 32754152, 33040328, 34718043, 35303369, 36466884, 40225147, 8676091, 8704236, 8986719, 9182906, 9354668, 9446656, 9753072, 9933465 View all (16 more) |
| Sezary Syndrome |
Associate
|
24621498 |
| Skin Diseases |
Associate
|
27711196 |
| Smooth Muscle Tumor |
Associate
|
33590796 |
| Spondylitis Ankylosing |
Associate
|
29530480 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
30777857 |
| Stomach Neoplasms |
Associate
|
26857264, 33328548 |
| Stomach Neoplasms |
Stimulate
|
33083484 |
| Thyroid cancer follicular |
Associate
|
31248021 |
| Transient Myeloproliferative Disorder of Down Syndrome |
Associate
|
17456055 |
| Urethral Neoplasms |
Associate
|
31348552 |
| Uterine Cervical Neoplasms |
Associate
|
35492074 |
| Waldenstrom Macroglobulinemia |
Associate
|
30402490 |
| X Linked Combined Immunodeficiency Diseases |
Associate
|
22039266, 25205547, 33040328, 35052377, 8676091, 8704236, 9933465 |
|