|
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 |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Aortic Syndrome |
Associate
|
28803253 |
| Adenocarcinoma of Lung |
Stimulate
|
27227769 |
| Adenoma |
Associate
|
17167179 |
| Alzheimer Disease |
Associate
|
32740652 |
| Aneurysm |
Inhibit
|
30979845 |
| Aortic Aneurysm Thoracic |
Associate
|
15876810 |
| Aortic Aneurysm Thoracic |
Stimulate
|
23245439 |
| Aortic Dissection |
Stimulate
|
23245439 |
| Asthma |
Inhibit
|
17088949 |
| Astrocytoma |
Associate
|
34169995 |
| Atherosclerosis |
Associate
|
36835545 |
| Breast Neoplasms |
Associate
|
19915008, 22514714, 23289900, 26804550, 28173833 |
| Bursitis |
Associate
|
39512681 |
| Carcinogenesis |
Associate
|
17167179, 20073072 |
| Carcinoma Hepatocellular |
Associate
|
19514085 |
| Carcinoma Non Small Cell Lung |
Associate
|
16495931 |
| Carcinoma Squamous Cell |
Associate
|
24356192 |
| Cartilage Diseases |
Associate
|
18671975 |
| Colitis Ulcerative |
Associate
|
37798683 |
| Colorectal Neoplasms |
Associate
|
17167179, 25786261, 27859935 |
| Endometrial Neoplasms |
Associate
|
20840749 |
| Essential Hypertension |
Associate
|
32502021 |
| Fractures Spontaneous |
Associate
|
33419465 |
| Gestational Trophoblastic Disease |
Associate
|
24786121 |
| Glioblastoma |
Associate
|
24962328, 33396280 |
| Glioma |
Associate
|
33396280, 34169995 |
| Hypomagnesemia primary |
Associate
|
24088737 |
| Hypoxia |
Stimulate
|
19349275, 30755679 |
| Hypoxia |
Associate
|
33396280 |
| Hypoxia Brain |
Associate
|
19349275 |
| Hypoxia Brain |
Stimulate
|
36674983 |
| Inflammation |
Associate
|
37798683 |
| Intervertebral Disc Degeneration |
Associate
|
19180493, 21809381 |
| Leukemia |
Associate
|
21044360 |
| Leukemia Biphenotypic Acute |
Associate
|
32509885 |
| Lung Neoplasms |
Associate
|
20073072 |
| Lymphatic Metastasis |
Associate
|
25936341 |
| Malocclusion |
Associate
|
28257739 |
| Malocclusion Angle Class III |
Associate
|
28257739 |
| Marfan Syndrome |
Associate
|
28712304 |
| Mesothelioma Malignant |
Associate
|
33800494 |
| Myocardial Infarction |
Associate
|
19349275 |
| Neoplasm Metastasis |
Associate
|
24088737, 25261644, 31010360 |
| Neoplasms |
Inhibit
|
16495931, 25261644, 25786261, 37389973 |
| Neoplasms |
Associate
|
19117505, 19514085, 22514714, 24088737, 36803844 |
| Non alcoholic Fatty Liver Disease |
Associate
|
36835545 |
| Osteoarthritis |
Inhibit
|
14730609 |
| Osteoarthritis |
Associate
|
30655094 |
| Ovarian Neoplasms |
Associate
|
26916548, 33161094 |
| Pancreatic Intraductal Neoplasms |
Associate
|
36803844 |
| Pancreatic Neoplasms |
Associate
|
24088737, 30953539, 36803844 |
| Pelvic Organ Prolapse |
Associate
|
34973089 |
| Periapical Granuloma |
Associate
|
33676487 |
| Polycystic Ovary Syndrome |
Associate
|
36286390 |
| Radicular Cyst |
Associate
|
33676487 |
| Sarcoidosis |
Associate
|
33276795 |
| Schizophrenia |
Associate
|
33070392 |
| Smoke Inhalation Injury |
Associate
|
32502021 |
| Status Asthmaticus |
Associate
|
31889146 |
| Stomach Neoplasms |
Associate
|
25936341, 33015704 |
| Thyroid Cancer Papillary |
Associate
|
26749005 |
| Urinary Bladder Neoplasms |
Associate
|
29038419 |
| Uterine Diseases |
Associate
|
31010360 |
|