|
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 |
| Allergic Sensitization |
Allergic sensitization |
N/A |
N/A |
GWAS |
| Asthma |
Atopic asthma, Pediatric asthma, Asthma (adult onset), Age of onset of childhood onset asthma, Asthma onset (childhood vs adult), Asthma in any disease, Asthma (time to onset), Asthma (moderate or severe), Asthma (age of onset), Asthma, Asthma (childhood onset), Nonatopic asthma |
N/A |
N/A |
GWAS |
| Celiac disease |
Celiac disease |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease (MTAG), Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Leprosy |
Leprosy |
N/A |
N/A |
GWAS |
| Nasal polyposis |
Nasal polyps |
N/A |
N/A |
GWAS |
| Polymyositis |
Polymyositis |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Coronary Syndrome |
Associate
|
23535507 |
| Adenocarcinoma of Lung |
Associate
|
35768814 |
| Airway Remodeling |
Associate
|
35673765 |
| Alopecia Areata |
Associate
|
33525114 |
| Anthracosis |
Associate
|
16971411 |
| Aortic Aneurysm Abdominal |
Associate
|
23690195 |
| Arthritis Rheumatoid |
Associate
|
12632414, 31376255, 31396542 |
| Asthma |
Associate
|
19910030, 20860503, 22694930, 23028483, 25895113, 34591794 |
| Asthma |
Stimulate
|
24641287, 27050946 |
| Bile Duct Neoplasms |
Associate
|
33863293 |
| Bone Marrow Diseases |
Associate
|
34905501 |
| Breast Neoplasms |
Associate
|
38287674 |
| Bronchopulmonary Dysplasia |
Associate
|
22289858, 39271728 |
| Carcinogenesis |
Associate
|
37684649 |
| Carcinoma Hepatocellular |
Associate
|
32938429 |
| Carcinoma Squamous Cell |
Inhibit
|
36544782 |
| Cardiovascular Diseases |
Associate
|
35069552 |
| Celiac Disease |
Associate
|
25327457, 27015091 |
| Colitis Ulcerative |
Associate
|
37638002 |
| Colorectal Neoplasms |
Associate
|
34781983 |
| Communicable Diseases |
Associate
|
23103228 |
| Coronary Artery Disease |
Associate
|
22738689 |
| COVID 19 |
Associate
|
33839760, 35069552, 35145507, 36052061 |
| Crohn Disease |
Associate
|
19249008, 23634226 |
| Death |
Associate
|
31455667 |
| Dermatitis Atopic |
Stimulate
|
15955098 |
| Dermatitis Atopic |
Associate
|
36142206, 36736455 |
| Dermatomyositis |
Associate
|
26362759 |
| Drug Hypersensitivity |
Stimulate
|
24641287 |
| Endometriosis |
Associate
|
35585523 |
| Essential Hypertension |
Associate
|
28121058 |
| Fibrosis |
Associate
|
16971411 |
| GATA2 Deficiency |
Associate
|
23690195 |
| Glioma |
Associate
|
26673168, 37810780 |
| Gout |
Associate
|
26399911 |
| Graft vs Host Disease |
Associate
|
31455667 |
| Graves Disease |
Associate
|
33912135 |
| Heart Diseases |
Associate
|
23535507 |
| HIV Infections |
Associate
|
18036256 |
| Hyperuricemia |
Associate
|
26722554 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
32899090 |
| Infections |
Associate
|
31455667 |
| Inflammation |
Associate
|
21048961, 22146561, 22289858, 23103228, 25269704, 34373564, 37554265, 37638002, 37684649, 39201511, 40435035 |
| Inflammatory Bowel Diseases |
Associate
|
25200001, 25327457, 25895113, 32641083 |
| Intracranial Aneurysm |
Associate
|
36248807 |
| Keratoderma Palmoplantar |
Associate
|
24842757 |
| Leprosy |
Associate
|
23103228, 34879060 |
| Leukemia |
Associate
|
37554265 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
25040996, 30108199 |
| Leukemia Myeloid Acute |
Associate
|
10354136, 39186002 |
| Liver Cirrhosis Biliary |
Associate
|
25327457 |
| Lung Diseases |
Associate
|
26382838 |
| Lupus Erythematosus Systemic |
Associate
|
31396542 |
| Moyamoya Disease |
Associate
|
28176861 |
| Multiple Myeloma |
Associate
|
36867577 |
| Mumps |
Associate
|
18715339 |
| Nasal Polyps |
Associate
|
25269704 |
| Neoplasms |
Associate
|
32938429, 35515000, 36544782, 36895014 |
| Neuroinflammatory Diseases |
Associate
|
36115520 |
| Obesity |
Associate
|
18078524 |
| Osteoarthritis |
Associate
|
30186872, 36619785 |
| Ovarian Neoplasms |
Associate
|
32444534 |
| Pain |
Associate
|
37454049 |
| Parkinson Disease |
Associate
|
34536521, 40435035 |
| Plaque Atherosclerotic |
Associate
|
11805151 |
| Pneumonia Ventilator Associated |
Associate
|
32031163 |
| Polymyositis |
Associate
|
26362759 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
38588489 |
| Primary Myelofibrosis |
Associate
|
34905501 |
| Psoriasis |
Stimulate
|
15955098 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
22489883, 36655999 |
| Pulmonary Fibrosis |
Associate
|
25535123 |
| Pyelonephritis |
Associate
|
24293448 |
| Rubella |
Associate
|
18715339 |
| Sciatic Neuropathy |
Associate
|
34663380 |
| Severe Acute Respiratory Syndrome |
Associate
|
35673765 |
| Sjogren's Syndrome |
Inhibit
|
36505431 |
| Spondylitis Ankylosing |
Stimulate
|
39185422 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
37201466 |
| Stomach Neoplasms |
Associate
|
26632693, 36253873 |
| Sveinsson Chorioretinal Atrophy |
Associate
|
22289858 |
| Technophobia |
Associate
|
16971411 |
| Thyroid Cancer Papillary |
Associate
|
30872410, 35515000 |
| Uveitis Anterior |
Associate
|
25200001 |
| Vasculitis |
Associate
|
34373564 |
| Virus Diseases |
Associate
|
37600811 |
|