|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Asthma |
Asthma |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Achondrogenesis type 2 |
Associate
|
29241192 |
| Acute Aortic Syndrome |
Associate
|
28803253 |
| Alzheimer Disease |
Associate
|
33152005 |
| Amyotrophic Lateral Sclerosis |
Associate
|
26212797 |
| Anterior Cruciate Ligament Injuries |
Associate
|
37919719 |
| Aortic Aneurysm Thoracic |
Stimulate
|
23245439 |
| Aortic Dissection |
Stimulate
|
23245439 |
| Arthritis Psoriatic |
Associate
|
27706574 |
| Arthritis Rheumatoid |
Associate
|
14534304, 15161923 |
| Atherosclerosis |
Associate
|
21334453, 25592103, 36835545 |
| Bone Diseases |
Associate
|
17900349 |
| Breast Neoplasms |
Associate
|
28099917 |
| Calcinosis Cutis |
Inhibit
|
36371231 |
| Carcinoma Hepatocellular |
Associate
|
31663692 |
| Carotid Stenosis |
Associate
|
29153440 |
| Cartilage Diseases |
Associate
|
18671975 |
| Cerebral Palsy |
Associate
|
29153440 |
| Cholangiocarcinoma |
Associate
|
31900160 |
| Chondrosarcoma |
Associate
|
27292772 |
| Colitis Ulcerative |
Associate
|
37798683 |
| Colorectal Neoplasms |
Associate
|
25786261 |
| Colorectal Neoplasms |
Stimulate
|
32130380 |
| Coronary Artery Disease |
Associate
|
25592103 |
| Diabetes Mellitus |
Associate
|
25592103 |
| Erythema elevatum diutinum |
Associate
|
26495885 |
| Femoracetabular Impingement |
Associate
|
23965695 |
| Fibrocartilaginous embolism |
Associate
|
30468453, 35315493 |
| Fibrosis |
Associate
|
26503507, 35701493 |
| Gestational Trophoblastic Disease |
Associate
|
24786121 |
| Head and Neck Neoplasms |
Associate
|
32736506 |
| Heart Diseases |
Stimulate
|
35701493 |
| Hip Injuries |
Associate
|
23965695 |
| Hypertrophy |
Associate
|
34143208 |
| Hypoxia |
Inhibit
|
23965235 |
| Hypoxia |
Stimulate
|
30468453 |
| Inflammation |
Associate
|
19840795, 29241192, 32271403, 32736506, 37798683 |
| Intervertebral Disc Degeneration |
Associate
|
19180493, 21809381, 25299465, 28207788, 37329158, 37354087 |
| Intervertebral disc disease |
Associate
|
26495885, 28081267, 28207788 |
| Intervertebral Disc Displacement |
Associate
|
20857147 |
| Joint Diseases |
Associate
|
23406982, 35536550 |
| Neoplasm Metastasis |
Associate
|
31663692 |
| Neoplasms |
Associate
|
25786261, 31663692 |
| Non alcoholic Fatty Liver Disease |
Associate
|
36835545 |
| Osteoarthritis |
Associate
|
15161923, 15922185, 17900349, 18671975, 23406982, 23965695, 25501175, 27082728, 27449198, 29241192, 30655094, 34143208, 34718343, 35536550, 35701493, 36157214 View all (1 more) |
| Osteoarthritis |
Stimulate
|
36463522 |
| Osteoarthritis Knee |
Associate
|
25501175 |
| Ovarian Neoplasms |
Associate
|
26916548 |
| Pelvic Organ Prolapse |
Associate
|
37266648 |
| Polycystic Ovary Syndrome |
Associate
|
33444494 |
| Tuberculosis Spinal |
Associate
|
28829887 |
| Ventricular Remodeling |
Associate
|
35701493 |
|