|
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 |
| Inflammatory Bowel Disease |
Inflammatory bowel disease (MTAG) |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
24167362, 30509602 |
| Adenocarcinoma of Lung |
Associate
|
38204755, 40179422 |
| Adenoma |
Associate
|
23778325, 30469315 |
| Alveolitis Extrinsic Allergic |
Associate
|
37800807 |
| Amyotrophic Lateral Sclerosis |
Associate
|
33541344, 37328865 |
| Arthritis Juvenile |
Inhibit
|
39389271 |
| Arthritis Psoriatic |
Inhibit
|
39389271 |
| Arthritis Rheumatoid |
Associate
|
37087463 |
| Ascites |
Associate
|
30509602 |
| Asthma |
Associate
|
15038835, 35858526 |
| Atrial Fibrillation |
Associate
|
32197906 |
| Atypical Squamous Cells of the Cervix |
Associate
|
24167362 |
| Balkan Nephropathy |
Associate
|
37629712 |
| Barrett Esophagus |
Inhibit
|
16229808 |
| Barrett Esophagus |
Associate
|
18664505 |
| Bipolar Disorder |
Associate
|
34387669, 36476443 |
| Blood Coagulation Disorders |
Associate
|
37790850 |
| Bowen's Disease |
Associate
|
36085041 |
| Breast Neoplasms |
Associate
|
24278290 |
| Breast Neoplasms |
Inhibit
|
37923090 |
| Bronchiolitis |
Associate
|
37751795 |
| Carcinogenesis |
Inhibit
|
16229808 |
| Carcinogenesis |
Associate
|
25970749, 37790850 |
| Carcinoma Hepatocellular |
Inhibit
|
27965980 |
| Carcinoma Non Small Cell Lung |
Associate
|
28837649 |
| Carcinoma Renal Cell |
Associate
|
25970749, 32316597 |
| Carcinoma Squamous Cell |
Associate
|
36085041, 40179422 |
| Cardiovascular Diseases |
Stimulate
|
25923078 |
| Cataract |
Associate
|
31814699 |
| Cataract Age Related Nuclear |
Associate
|
31814699 |
| Cerebral Infarction |
Associate
|
17122425, 20946167, 28738977 |
| Colonic Neoplasms |
Associate
|
34564978, 38179743 |
| Colorectal Neoplasms |
Associate
|
34364366, 36105798, 37664836 |
| COVID 19 |
Associate
|
38003341 |
| Dementia |
Associate
|
37328865 |
| Diabetes Mellitus Type 1 |
Associate
|
37537394 |
| Diabetes Mellitus Type 2 |
Associate
|
25923078, 30537708, 32049633 |
| Diabetic Nephropathies |
Associate
|
34545296 |
| Endometriosis |
Associate
|
39408909 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
25050929 |
| Fetal Growth Retardation |
Associate
|
38069155 |
| Gallbladder Neoplasms |
Associate
|
24167362 |
| Gastrointestinal Diseases |
Associate
|
23778325 |
| Glutamate Monosodium Sensitivity |
Associate
|
29520099 |
| Graves Disease |
Associate
|
36768762 |
| Hearing Loss Sensorineural |
Associate
|
28738977 |
| Heart Defects Congenital |
Associate
|
26612412 |
| Heat Stress Disorders |
Associate
|
29520099 |
| Hemoglobin SC Disease |
Associate
|
24167362 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate
|
26549939 |
| Infarction Anterior Cerebral Artery |
Associate
|
17122425, 20946167 |
| Inflammation |
Associate
|
32049633 |
| Inflammation |
Stimulate
|
37664836 |
| Inflammatory Breast Neoplasms |
Inhibit
|
24790704 |
| Insulin Resistance |
Associate
|
30537708 |
| Intracranial Thrombosis |
Associate
|
28738977 |
| Kashin Beck Disease |
Associate
|
30153510, 33455417 |
| Leukemia |
Associate
|
27891827 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
26261521 |
| Leukemia Myeloid Acute |
Associate
|
26045745, 27891827, 33369453 |
| Leukemia Myeloid Acute |
Inhibit
|
33202543 |
| Lung Neoplasms |
Associate
|
19887610, 23374247, 27484907, 30260967 |
| Lymphatic Metastasis |
Inhibit
|
23071548 |
| Lymphatic Metastasis |
Associate
|
24167362 |
| Macular Degeneration |
Associate
|
28651595 |
| Muscular Diseases |
Associate
|
39438952 |
| Myelodysplastic Syndromes |
Associate
|
23339595, 27891827, 32967500 |
| Myocardial Infarction |
Associate
|
36553589 |
| Myoma |
Inhibit
|
24518545 |
| Neoplasm Metastasis |
Associate
|
35914155 |
| Neoplasms |
Associate
|
15899813, 23699600, 30153510, 33545567, 34364366, 35914155, 37629712, 37664836, 38179743, 38204755, 38299269 |
| Neoplasms |
Inhibit
|
22539223, 24790704, 25970749, 26045745, 27484907, 30260967 |
| Neoplasms |
Stimulate
|
25050929 |
| Obesity |
Associate
|
30537708 |
| Osteoarthritis |
Inhibit
|
17075858 |
| Osteoarthritis |
Associate
|
33455417 |
| Ovarian Neoplasms |
Associate
|
30509602, 38299269 |
| Pancreatic Neoplasms |
Associate
|
34660806 |
| Parkinson Disease |
Associate
|
31199560 |
| Polycystic Ovary Syndrome |
Associate
|
24279306, 36246893 |
| Post Acute COVID 19 Syndrome |
Associate
|
37373377 |
| Prostatic Neoplasms |
Associate
|
15899813, 23143801, 24769028, 25284284, 31115550 |
| Psoriasis |
Associate
|
27364786 |
| Psychological Distress |
Associate
|
36768762 |
| Rectal Neoplasms |
Associate
|
22371331 |
| Renal Insufficiency Chronic |
Associate
|
39519573 |
| Respiratory Distress Syndrome |
Stimulate
|
22321564 |
| Retinitis Pigmentosa |
Stimulate
|
27297950 |
| Sepsis |
Associate
|
39438952 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
29802697, 33545567 |
| Status Asthmaticus |
Associate
|
15038835 |
| Stomach Neoplasms |
Inhibit
|
23071548 |
| Stomach Neoplasms |
Associate
|
24014049, 30114685, 34773716, 34840985, 35601155, 37790850, 38042786, 39527470, 39762768 |
| Urethral Neoplasms |
Associate
|
37629712 |
| Venous Thromboembolism |
Associate
|
27742707 |
| Weight Loss |
Stimulate
|
30537708 |
|