|
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 |
| Asthma |
Asthma |
N/A |
N/A |
GWAS |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension, Hypertension |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Ischemic Stroke |
Ischemic stroke |
N/A |
N/A |
GWAS |
| Mental Depression |
Major depressive disorder |
N/A |
N/A |
GWAS |
| Osteoarthritis Of Hip |
Osteoarthritis of the hip or knee (with total joint replacement) |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
32492203, 34510311, 35733175, 35960376 |
| Alzheimer Disease |
Associate
|
34108016 |
| Arthritis Rheumatoid |
Stimulate
|
29465367, 32840921 |
| Asthma |
Associate
|
33413387, 33455043 |
| Atherosclerosis |
Stimulate
|
29465367 |
| Atrial Fibrillation |
Associate
|
40304040 |
| Bipolar Disorder |
Associate
|
40562893 |
| Brain Neoplasms |
Associate
|
23097623 |
| Breast Neoplasms |
Associate
|
11335709, 29704427 |
| Carcinogenesis |
Associate
|
34671211, 36799665 |
| Carcinoma Hepatocellular |
Inhibit
|
35668069 |
| Carcinoma Non Small Cell Lung |
Associate
|
35960376 |
| Carcinoma Squamous Cell |
Associate
|
24436242, 32591666, 9166946 |
| Cardiovascular Diseases |
Associate
|
40596960 |
| Cerebral Infarction |
Associate
|
40304040 |
| Chronic Disease |
Associate
|
37239341 |
| Cognition Disorders |
Associate
|
34953024 |
| Colonic Neoplasms |
Associate
|
8760366 |
| Coronary Artery Disease |
Associate
|
32067586, 33910372, 37443715 |
| Coronary Disease |
Associate
|
37147786 |
| Coronavirus Infections |
Associate
|
32543348 |
| COVID 19 |
Associate
|
21435673, 32543348, 32638018, 32691890, 32771700, 32825469, 32867305, 33243086, 33508651, 33662863, 33910372, 34330889, 34356057, 34410424, 34510311, 34671211, 34960779, 35046647, 35196783, 35355278, 35708281, 36193902, 36293378, 36914430, 39218301, 39470207 View all (11 more) |
| Cystic Fibrosis |
Associate
|
32668165, 35202587 |
| Death |
Associate
|
35355278 |
| Dementia familial Danish |
Associate
|
18282158 |
| Diabetes Mellitus |
Associate
|
35399937 |
| Diabetes Mellitus Type 2 |
Associate
|
37147786 |
| Disease |
Associate
|
26342013 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
25997032 |
| Dry Eye Syndromes |
Stimulate
|
29465367 |
| Dyslipidemias |
Associate
|
37147786 |
| Ectodermal Dysplasia 1 Anhidrotic |
Associate
|
11416205 |
| Essential Hypertension |
Associate
|
20707915 |
| Fabry Disease |
Associate
|
22247037 |
| Foot and Mouth Disease |
Associate
|
27332822 |
| Genetic Predisposition to Disease |
Associate
|
32492203 |
| Glioblastoma |
Associate
|
11390472 |
| Glioma |
Associate
|
11390472, 15584904, 23097623, 28484053, 34953024 |
| Head and Neck Neoplasms |
Associate
|
12547702 |
| Hypercholesterolemia |
Associate
|
16912035, 35355278 |
| Hypertension |
Associate
|
20707915, 27760099, 32888289 |
| Hypobetalipoproteinemia Familial 1 |
Associate
|
28633452 |
| Hypobetalipoproteinemia Familial 2 |
Associate
|
28633452 |
| Hypophosphatemic Rickets Autosomal Dominant |
Associate
|
38493780 |
| Hypotension |
Associate
|
30706700 |
| Hypoxia |
Associate
|
18329003, 24436242 |
| Infections |
Stimulate
|
28566373, 36851526 |
| Infections |
Associate
|
35632769, 36144551 |
| Inflammation |
Associate
|
29465367, 32840921, 33413387 |
| Ischemic Attack Transient |
Associate
|
27760099 |
| Kidney Neoplasms |
Associate
|
29022645 |
| Liver Failure Acute |
Associate
|
17498766 |
| Lung Neoplasms |
Associate
|
40649939 |
| Lupus Erythematosus Systemic |
Stimulate
|
29465367 |
| Lysosomal Storage Diseases |
Associate
|
34807954 |
| Melanoma |
Associate
|
26283728, 29466742 |
| Metaphyseal chondrodysplasia Schmid type |
Associate
|
28440393 |
| Mouth Neoplasms |
Stimulate
|
32562913 |
| Mucus Inspissation of Respiratory Tract |
Associate
|
35202587 |
| Myocardial Infarction |
Associate
|
34579647 |
| Myocardial Ischemia |
Associate
|
37940228 |
| Neoplasm Metastasis |
Associate
|
26137475, 29704427, 32029900, 36799665 |
| Neoplasms |
Associate
|
12547702, 23409034, 24841138, 26137475, 32029900, 32512290, 32820145, 34510311, 34671211, 35960376, 36799665, 37624966, 9166946 |
| Opioid Related Disorders |
Associate
|
37252880 |
| Ovarian Neoplasms |
Associate
|
17641413, 32029900 |
| Papillomavirus Infections |
Associate
|
27122588 |
| Plaque Atherosclerotic |
Associate
|
34579647 |
| Post Exercise Hypotension |
Associate
|
30706700 |
| Poult Enteritis Mortality Syndrome |
Associate
|
34699015 |
| Pressure Ulcer |
Associate
|
25820152 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
33978304, 34671211, 35046647 |
| Respiratory System Abnormalities |
Inhibit
|
29465367 |
| Schizophrenia |
Associate
|
27668389 |
| Severe Acute Respiratory Syndrome |
Associate
|
21435673 |
| Sjogren's Syndrome |
Stimulate
|
29465367 |
| Sjogren's Syndrome |
Associate
|
37239341 |
| Small Cell Lung Carcinoma |
Associate
|
9166946 |
| Stroke |
Associate
|
40596960 |
| Thyroid Cancer Papillary |
Associate
|
36799665 |
| Uterine Cervical Neoplasms |
Associate
|
32306508 |
| Virus Diseases |
Associate
|
33508651, 34699015, 34807954, 35012335, 35286852 |
|