|
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 |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
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 |
| Anemia |
Associate
|
37791774 |
| Anemia Sickle Cell |
Inhibit
|
34115805 |
| Arthritis Psoriatic |
Associate
|
17491095 |
| Atrial Fibrillation |
Associate
|
40304040 |
| Blood Coagulation Disorders |
Inhibit
|
21394629 |
| Blood Coagulation Disorders |
Associate
|
33683204, 36814838, 36982991 |
| Brain Edema |
Associate
|
34549725 |
| Breast Neoplasms |
Associate
|
20103682, 25407022, 29217770, 29997232 |
| Cardiovascular Diseases |
Associate
|
18680534 |
| Carotid Stenosis |
Associate
|
17170365 |
| Cartilage Diseases |
Associate
|
24495480 |
| Cerebral Infarction |
Associate
|
30383853, 40304040 |
| Coronary Artery Disease |
Associate
|
26908601, 35264566 |
| Coronary Artery Disease |
Inhibit
|
35264566 |
| Coronary Disease |
Associate
|
18680534 |
| COVID 19 |
Inhibit
|
33683204, 35033854 |
| Diabetic Nephropathies |
Inhibit
|
26990852 |
| Diabetic Nephropathies |
Associate
|
26990852 |
| Disease Susceptibility |
Associate
|
15954900 |
| Glioblastoma |
Associate
|
22591734 |
| Hemophilia A |
Associate
|
17659055 |
| Hypertensive Retinopathy |
Associate
|
29025399 |
| Hypomagnesemia 5 Renal with Ocular Involvement |
Associate
|
15954900 |
| Hypothermia |
Inhibit
|
37369465 |
| Inflammation |
Inhibit
|
21394629, 33756504, 35264566 |
| Inflammation |
Associate
|
22193922, 28804104, 35264566, 37791774 |
| Inflammatory Bowel Diseases |
Associate
|
35018451 |
| Intracranial Thrombosis |
Associate
|
23741007, 37175682 |
| Kidney Diseases |
Associate
|
15954900 |
| Leukemia |
Associate
|
23342274 |
| Livedoid Vasculopathy |
Associate
|
15954900 |
| Lupus Erythematosus Systemic |
Associate
|
15954900 |
| Lupus Nephritis |
Associate
|
15954900, 19286697 |
| Malaria |
Associate
|
25541704, 28732053, 29025399, 33203751, 37791774 |
| Malaria Cerebral |
Associate
|
23741007, 25541704, 27406562, 29025399, 29339517, 30610112, 33203751, 34549725 |
| Memory Disorders |
Associate
|
18680534 |
| Meningococcal Infections |
Associate
|
11496851 |
| Microvascular Angina |
Associate
|
25541704, 34966385 |
| Mucocutaneous Lymph Node Syndrome |
Associate
|
31645483 |
| Multiple Organ Failure |
Associate
|
25608138 |
| Myocardial Infarction |
Associate
|
18757851 |
| Myotonic Dystrophy |
Associate
|
34462518 |
| Nasopharyngeal Carcinoma |
Associate
|
35169126 |
| Neoplasm Metastasis |
Associate
|
35169126 |
| Neoplasms |
Associate
|
18758062, 22591734, 25407022, 29217770, 35169126, 36814838, 36920782, 38237862 |
| Obesity |
Associate
|
22193922 |
| Obesity Maternal |
Associate
|
20141580 |
| Osteoarthritis |
Associate
|
17491095 |
| Ovarian Neoplasms |
Associate
|
26082331 |
| Peritonitis |
Associate
|
31734630 |
| Pneumonia Pneumococcal |
Associate
|
30290852 |
| Prader Willi Syndrome |
Associate
|
22193922 |
| Pre Eclampsia |
Associate
|
32003123 |
| Preeclamptic toxemia |
Inhibit
|
32003123 |
| Protein C Deficiency |
Associate
|
19133979, 23389250 |
| Pyruvate Carboxylase Deficiency Disease |
Associate
|
17491095 |
| Respiratory Distress Syndrome |
Associate
|
27215212, 28732053 |
| Retinitis Pigmentosa |
Associate
|
29025399 |
| Sepsis |
Associate
|
15710622, 16444434, 21394629 |
| Severe Acute Respiratory Syndrome |
Associate
|
29025399 |
| Shock Septic |
Associate
|
30290852 |
| Skin Neoplasms |
Associate
|
35018451 |
| Stroke |
Associate
|
18680534, 30383853 |
| Synovial Cyst |
Associate
|
24495480 |
| Systemic Inflammatory Response Syndrome |
Associate
|
28804104 |
| Thrombosis |
Associate
|
14576048, 18403391, 19133979, 22193922, 23389250, 25760048, 34981912, 35264566 |
| Triple Negative Breast Neoplasms |
Associate
|
29217770, 34281556 |
| Usher Syndrome Type IE |
Associate
|
23741007 |
| Uterine Cervical Neoplasms |
Associate
|
37308506 |
| Vascular Diseases |
Associate
|
35264566 |
| Vascular System Injuries |
Associate
|
17170365 |
| Venous Thromboembolism |
Associate
|
18403391, 18757851, 19222470, 20141580, 24051141, 26908601, 35264566, 37308506 |
| Venous Thromboembolism |
Stimulate
|
35264566 |
| Venous Thrombosis |
Associate
|
15304035, 18403391, 20141580, 21980494, 22443383 |
|