|
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 |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Common Variable Immunodeficiency |
common variable immunodeficiency |
N/A |
N/A |
ClinVar, GenCC |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
35707713 |
| Alzheimer Disease |
Associate
|
37584418 |
| Arthritis Psoriatic |
Stimulate
|
27338143 |
| Arthritis Rheumatoid |
Associate
|
19147618, 21435232, 22019378, 34868079, 35360114 |
| Asthma |
Associate
|
30676129 |
| Atherosclerosis |
Associate
|
15056843 |
| Atrial Fibrillation |
Associate
|
35292824 |
| Atrial Fibrillation |
Inhibit
|
37581400 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
38066446 |
| Autoimmune Diseases |
Associate
|
24056367, 35707713 |
| Autoimmune Diseases of the Nervous System |
Associate
|
28351660 |
| Burns |
Associate
|
23816995 |
| Calcinosis |
Associate
|
27441657 |
| Carcinoma Hepatocellular |
Associate
|
35125824 |
| Carcinoma Non Small Cell Lung |
Associate
|
24469836 |
| Carcinoma Renal Cell |
Associate
|
21483105 |
| Carcinoma Squamous Cell |
Stimulate
|
22438963 |
| Carcinoma Squamous Cell |
Associate
|
30414907 |
| Cardiovascular Diseases |
Associate
|
26728587, 27441657 |
| Chronic Disease |
Associate
|
26931128 |
| Chronic Kidney Disease Mineral and Bone Disorder |
Associate
|
26728587 |
| Common Variable Immunodeficiency |
Associate
|
33859323 |
| Communicable Diseases |
Associate
|
21762126 |
| COVID 19 |
Associate
|
38066446 |
| Dermatomyositis |
Inhibit
|
24467773 |
| Disease Progression |
Inhibit
|
34193611 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
11067885, 21249128 |
| Eczema |
Associate
|
21765951 |
| Encephalitis |
Associate
|
36292599 |
| Endometrial Neoplasms |
Associate
|
35169075 |
| Femur Head Necrosis |
Associate
|
38115279 |
| Fibrosis |
Associate
|
26931128, 27050952 |
| Frontotemporal Dementia |
Stimulate
|
36890594 |
| Fuchs' Endothelial Dystrophy |
Associate
|
21762126 |
| Glioblastoma |
Associate
|
19861406, 37567906 |
| Glioma |
Associate
|
12651623, 15611130, 19861406, 23775076, 26764186 |
| Glomerulonephritis |
Associate
|
37466605 |
| Graves Disease |
Stimulate
|
30576385 |
| Graves Ophthalmopathy |
Stimulate
|
30576385 |
| Hypoxia |
Stimulate
|
20382683 |
| IgA Vasculitis |
Stimulate
|
21762126 |
| Infections |
Associate
|
23493554 |
| Inflammation |
Stimulate
|
15056843, 20382683, 22438963, 30676129 |
| Inflammation |
Associate
|
17100776, 18945991, 21435232, 21762126, 23320797, 23651848, 23750247, 24056367, 26931128, 27050952, 27338143, 30009538, 30576385, 35360114, 35967338, 36942605, 40445960 View all (2 more) |
| Insulin Resistance |
Inhibit
|
23651848 |
| Kidney Diseases |
Associate
|
40445960 |
| Kidney Failure Chronic |
Inhibit
|
34193611 |
| Kidney Neoplasms |
Associate
|
21483105 |
| Latent Tuberculosis |
Associate
|
31992621 |
| Leukemia Monocytic Acute |
Stimulate
|
21762126 |
| Liver Cirrhosis |
Associate
|
27907201 |
| Lung Neoplasms |
Associate
|
24469836 |
| Lupus Erythematosus Systemic |
Associate
|
12421989 |
| Lupus Erythematosus Systemic |
Stimulate
|
28351660 |
| Melanoma |
Associate
|
34638912 |
| Multiple Sclerosis |
Associate
|
23320797, 29518260, 35967338, 36292599 |
| Muscle Neoplasms |
Associate
|
26931128 |
| Muscle Weakness |
Associate
|
23493554 |
| Muscular Atrophy |
Associate
|
32624006 |
| Mycobacterium Infections Nontuberculous |
Stimulate
|
31992621 |
| Mycobacterium Infections Nontuberculous |
Associate
|
36321903 |
| Neoplasm Metastasis |
Associate
|
26811494 |
| Neoplasm Metastasis |
Inhibit
|
34638912 |
| Neoplasms |
Associate
|
11067885, 23077618, 23469193, 24056367, 28467815, 33991013, 9560343 |
| Neoplasms |
Inhibit
|
35707713 |
| Neuroinflammatory Diseases |
Associate
|
23320797 |
| Obesity |
Associate
|
20382683, 26658801 |
| Osteosarcoma |
Associate
|
30014744 |
| Ovarian Neoplasms |
Inhibit
|
23469193 |
| Pemphigoid Bullous |
Associate
|
28351660 |
| Periodontal Diseases |
Associate
|
17100776 |
| Periodontitis |
Associate
|
35360114 |
| Plaque Atherosclerotic |
Associate
|
15056843, 27441657 |
| Polymyositis |
Inhibit
|
24467773 |
| Prostate cancer familial |
Associate
|
29095436 |
| Prostatic Neoplasms |
Associate
|
22019378, 23077618, 31500625 |
| Proteinuria |
Associate
|
37466605 |
| Psoriasis |
Stimulate
|
22438963 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
30178857 |
| Purpura Thrombocytopenic Idiopathic |
Stimulate
|
23869085 |
| Renal Tubular Transport Inborn Errors |
Associate
|
37466605 |
| Sarcoma |
Associate
|
30014744 |
| Sarcopenia |
Associate
|
36821647 |
| Skin Diseases |
Associate
|
22438963 |
| Smooth Muscle Tumor |
Associate
|
27441657 |
| Spinal Cord Injuries |
Associate
|
26931128 |
| Stomach Neoplasms |
Associate
|
26811494 |
| Synovitis |
Associate
|
27338143 |
| Tooth Erosion |
Associate
|
21435232 |
| Vasculitis |
Associate
|
32734361 |
|