|
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 |
| Astrocytoma |
Pilocytic astrocytoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Anemia |
Associate
|
30866520 |
| Arthritis Psoriatic |
Stimulate
|
19114666 |
| Arthritis Psoriatic |
Inhibit
|
23144698 |
| Arthritis Rheumatoid |
Associate
|
21959042 |
| Asthma |
Associate
|
26998837 |
| Atherosclerosis |
Associate
|
20145358, 21981776, 24779513, 29653511, 29853566, 30866520 |
| Bone Diseases Metabolic |
Stimulate
|
36531488 |
| Breast Neoplasms |
Stimulate
|
33753802 |
| Carcinoma Hepatocellular |
Associate
|
33066326 |
| Carcinoma Renal Cell |
Associate
|
28759013, 33828127, 37762031 |
| Carcinoma Squamous Cell |
Associate
|
27907906 |
| Cardiovascular Diseases |
Associate
|
30866520, 32401924 |
| Carotid Stenosis |
Associate
|
29653511 |
| Cerebrovascular Disorders |
Associate
|
35620813 |
| Chordoma |
Associate
|
24452533 |
| Chronic Kidney Disease Mineral and Bone Disorder |
Associate
|
25945605 |
| Congenital Hyperinsulinism |
Stimulate
|
19502420 |
| Coronary Artery Disease |
Associate
|
20145358, 21981776, 26304698, 30866520 |
| Coronary Artery Disease |
Stimulate
|
29653511, 35134201 |
| COVID 19 |
Associate
|
36032171 |
| Death |
Associate
|
36032171 |
| Diabetes Gestational |
Associate
|
28846666, 36359855 |
| Diabetes Mellitus |
Associate
|
26150435, 30866520 |
| Diabetes Mellitus Type 2 |
Associate
|
26304698 |
| Fatty Liver |
Inhibit
|
27768254 |
| Fatty Liver |
Associate
|
29025245, 35549673 |
| Glioblastoma |
Stimulate
|
37271257 |
| Glioma |
Associate
|
37271257 |
| Growth Disorders |
Associate
|
31382403 |
| Heart Diseases |
Associate
|
31382403 |
| Heart Failure |
Associate
|
35134201 |
| Hepatitis C Chronic |
Associate
|
25121101 |
| Huntington Disease |
Stimulate
|
25945605 |
| Hypertension |
Stimulate
|
24047472 |
| Hypertension |
Associate
|
26150435, 30866520 |
| Hypoxia |
Stimulate
|
27792771, 36882076 |
| Inferior Wall Myocardial Infarction |
Stimulate
|
35620813 |
| Inflammation |
Associate
|
16096270, 16904155, 21981776, 24047472, 25945605, 26150435, 26670468, 27239101, 29653511, 29853566, 30866520, 30978267, 32401924, 36032171 |
| Inflammation |
Stimulate
|
36359855 |
| Insulin Resistance |
Stimulate
|
20570822 |
| Insulin Resistance |
Associate
|
26304698, 27239101, 27768254, 32401924 |
| Insulin Resistance |
Inhibit
|
30871547 |
| Ischemic Attack Transient |
Stimulate
|
35620813 |
| Kidney Diseases |
Associate
|
26304698, 30866520 |
| Kidney Failure Chronic |
Associate
|
29644922, 35097109 |
| Kidney Neoplasms |
Stimulate
|
33828127 |
| Lupus Erythematosus Systemic |
Associate
|
15728234 |
| Melanoma |
Associate
|
35135212 |
| Metabolic Diseases |
Associate
|
30866520, 34944507 |
| Metabolic Syndrome |
Associate
|
19470637, 20237162, 22383892, 26304698, 29853566, 32401924 |
| Metabolic Syndrome |
Stimulate
|
24047472, 36032171 |
| Microscopic Polyangiitis |
Associate
|
34242326 |
| Minicore Myopathy with External Ophthalmoplegia |
Associate
|
30866520 |
| Neoplasms |
Associate
|
27907906, 28759013, 33753802, 38280909 |
| Neoplasms Adipose Tissue |
Associate
|
27239101 |
| Neoplasms Squamous Cell |
Stimulate
|
27092781 |
| Nephrotic Syndrome |
Associate
|
34511173 |
| Nervous System Diseases |
Associate
|
35620813 |
| Neurologic Manifestations |
Associate
|
35620813 |
| Non alcoholic Fatty Liver Disease |
Associate
|
27768254, 29025245 |
| Obesity |
Associate
|
20237162, 21981776, 22544171, 26150435, 26166341, 29025245, 30866520 |
| Obesity |
Stimulate
|
24047472, 24524360, 27239101, 31382403, 31652917 |
| Obesity |
Inhibit
|
27768254 |
| Osteosarcoma |
Associate
|
38280909 |
| Ovarian Diseases |
Stimulate
|
31155988 |
| Ovarian Neoplasms |
Associate
|
35187890 |
| Overweight |
Associate
|
35549673 |
| Pancreatitis Chronic |
Stimulate
|
25278706 |
| Paroxysmal ventricular fibrillation |
Associate
|
31155988 |
| Polycystic Ovary Syndrome |
Stimulate
|
19502420, 24524360, 31155988 |
| Polycystic Ovary Syndrome |
Associate
|
26166341, 31382403, 35701786 |
| Pre Eclampsia |
Stimulate
|
36882076 |
| Psoriasis |
Associate
|
19114666 |
| Pulmonary Arterial Hypertension |
Associate
|
36600187 |
| Respiratory Distress Syndrome |
Associate
|
36032171 |
| Sarcoma Ewing |
Associate
|
24005033 |
| Scleroderma Systemic |
Associate
|
36600187 |
| Skin Diseases |
Associate
|
19114666 |
| Syphilis |
Associate
|
28410389 |
| Takotsubo Cardiomyopathy |
Associate
|
29025245 |
| Vascular System Injuries |
Associate
|
26150435 |
| Venous Thromboembolism |
Associate
|
37537391 |
| Weight Gain |
Associate
|
35549673 |
|