|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Asthma |
Asthma |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Anodontia |
Associate
|
36675305 |
| Arthritis Rheumatoid |
Associate
|
15667572, 17393389, 19644859, 20187130, 23460240, 27898717, 28925718 |
| Asthma |
Associate
|
24782592, 40234829 |
| Autoimmune Diseases |
Associate
|
23976978, 34238277 |
| Breast Neoplasms |
Associate
|
23976978, 34868337, 37428249, 37584152, 39287311 |
| Breast Neoplasms |
Inhibit
|
35441740 |
| Carcinoma Hepatocellular |
Associate
|
30116751 |
| Carcinoma Pancreatic Ductal |
Associate
|
40243455 |
| Celiac Disease |
Associate
|
20190752 |
| Cell Transformation Viral |
Stimulate
|
30918139 |
| Cholangitis Sclerosing |
Associate
|
22521342 |
| Chordoma |
Associate
|
18094369 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
9739048 |
| Endometrial Neoplasms |
Associate
|
34158412, 36199963, 36675305 |
| Eosinophilic Esophagitis |
Associate
|
32712105 |
| Esophageal Neoplasms |
Associate
|
32744314 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
32744314 |
| Genetic Predisposition to Disease |
Stimulate
|
27103745 |
| Glioblastoma |
Associate
|
30987862 |
| Glioma |
Stimulate
|
30987862 |
| Graft vs Host Disease |
Associate
|
27103745 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
26650888 |
| Hodgkin Disease |
Associate
|
26650888 |
| Hypoxia |
Associate
|
32312328 |
| Hypoxia Brain |
Stimulate
|
32312328 |
| Infections |
Associate
|
19129446, 21139972, 9765287 |
| Inflammation |
Stimulate
|
15667572 |
| Inflammation |
Associate
|
19680232, 23976978, 9162022 |
| Inflammatory Bowel Diseases |
Associate
|
20187130 |
| Leukemia |
Associate
|
37041226 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
19701890, 22547582 |
| Leukemia Myeloid Acute |
Associate
|
26377688 |
| Lupus Erythematosus Systemic |
Associate
|
34899718 |
| Lupus Nephritis |
Associate
|
35774777 |
| Lymphatic Metastasis |
Associate
|
23976978 |
| Lymphatic Metastasis |
Stimulate
|
28365939 |
| Lymphoma |
Associate
|
19701890, 23692853, 27103745, 33311649 |
| Lymphoma B Cell |
Associate
|
31433965, 35834399 |
| Lymphoma B Cell Marginal Zone |
Associate
|
29674500, 35609565 |
| Lymphoma Follicular |
Associate
|
23445872, 24162788, 26965583, 27103745, 27257180, 27325104, 28533310, 30918139, 33211828, 33945543, 35734168, 36240289, 36994552, 37561599 |
| Lymphoma Large B Cell Diffuse |
Associate
|
22343534, 30918139, 34478526, 34558064, 36240289, 37032379 |
| Lymphoma Non Hodgkin |
Associate
|
26965583 |
| Lymphoma Primary Cutaneous Anaplastic Large Cell |
Associate
|
34382383 |
| Lymphoma T Cell Cutaneous |
Inhibit
|
22297640 |
| Metabolic Diseases |
Associate
|
20592286 |
| Multiple Myeloma |
Associate
|
22634623, 37054944 |
| Myasthenia Gravis |
Associate
|
35979348 |
| Necrosis |
Associate
|
30987862 |
| Neoplasms |
Associate
|
10318773, 15549770, 18094369, 19701890, 22634623, 23976978, 26377688, 30116751, 30987862, 32312328, 32855278, 33602901, 33968070, 34382383, 34558064, 34858395, 36199963, 36351924, 36853790, 37428249, 9739048 View all (6 more) |
| Neoplasms |
Inhibit
|
26650888 |
| Obesity |
Associate
|
19680232 |
| Ovarian Neoplasms |
Associate
|
27458100, 28365939, 32312328 |
| Plaque Atherosclerotic |
Associate
|
15667572 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
27750045 |
| Progressive Transformation of Germinal Centers |
Associate
|
31433965 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
40234829 |
| Respiratory Tract Diseases |
Associate
|
40234829 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
32548602 |
| Status Asthmaticus |
Associate
|
24782592 |
| Triple Negative Breast Neoplasms |
Associate
|
37561599 |
| Tuberculosis Pulmonary |
Inhibit
|
39386167 |
| Urinary Bladder Neoplasms |
Associate
|
32454905, 34708131, 34858395, 38518167 |
| Uterine Cervical Neoplasms |
Associate
|
35942212 |
|