|
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, aspirin-induced, susceptibility to, Asthma, nasal polyps, and aspirin intolerance, Age of onset of adult onset asthma, Asthma in any disease, Asthma, Asthma (childhood onset) |
N/A |
N/A |
ClinVar, GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Eczema |
Eczema |
N/A |
N/A |
GWAS |
| Fibromuscular Dysplasia |
Fibromuscular dysplasia |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Immunodeficiency |
Immunodeficiency 88, immunodeficiency 88 |
N/A |
N/A |
ClinVar, GenCC |
| Metabolic Syndrome |
Metabolic syndrome |
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 |
| Abortion Spontaneous |
Stimulate
|
37035756 |
| Achalasia Addisonianism Alacrimia syndrome |
Stimulate
|
37980558 |
| Adenocarcinoma |
Associate
|
36281585 |
| Adenocarcinoma of Lung |
Associate
|
26348446 |
| Adenocarcinoma of Lung |
Inhibit
|
31909418 |
| Alopecia Areata |
Stimulate
|
26551570 |
| Alzheimer Disease |
Associate
|
36405736 |
| Anemia Aplastic |
Stimulate
|
16434488 |
| Anemia Aplastic |
Associate
|
37980558 |
| Arthritis |
Associate
|
20679229 |
| Arthritis Juvenile |
Associate
|
35860254 |
| Arthritis Psoriatic |
Stimulate
|
27964744 |
| Arthritis Rheumatoid |
Associate
|
19287198, 25430993, 26062018, 31061532, 32377535, 33387686 |
| Asthma |
Associate
|
15604153, 16179640, 19127215, 21272048, 22521571, 24107858, 29794786 |
| Asthma |
Inhibit
|
17302903 |
| Ataxia Telangiectasia |
Associate
|
21272048, 30009527 |
| Autism Spectrum Disorder |
Stimulate
|
37108638 |
| Autoimmune Diseases |
Associate
|
19287198, 21272048, 24495857, 31287846, 33708209, 33815388, 37451321, 38350043 |
| Behcet Syndrome |
Stimulate
|
14507763 |
| Behcet Syndrome |
Associate
|
25873156, 36857067 |
| Bile Duct Neoplasms |
Associate
|
28053236 |
| Breast Neoplasms |
Associate
|
20068169, 21750556, 25400774, 30029633, 30632703 |
| Bronchiolitis Obliterans Syndrome |
Associate
|
19168793 |
| Calcinosis Cutis |
Stimulate
|
16371631 |
| Carcinogenesis |
Associate
|
32561704 |
| Carcinoma Hepatocellular |
Associate
|
25552913 |
| Carcinoma Non Small Cell Lung |
Associate
|
21507199 |
| Carcinoma Non Small Cell Lung |
Inhibit
|
26348446 |
| Carcinoma Renal Cell |
Associate
|
33346915 |
| Carcinoma Squamous Cell |
Associate
|
25577251 |
| Cardiomyopathy Dilated |
Stimulate
|
21422001 |
| Carotid Artery Diseases |
Associate
|
27782101 |
| CD59 Deficiency |
Associate
|
18045485, 22521571 |
| Cholangitis Sclerosing |
Associate
|
28597951 |
| Chromosome Deletion |
Inhibit
|
39891996 |
| Chronic Periodontitis |
Associate
|
25832120 |
| Cognitive Dysfunction |
Associate
|
30088779 |
| Colitis Ulcerative |
Associate
|
22467146, 31191543, 31918598 |
| Colorectal Neoplasms |
Associate
|
25358689, 34975867 |
| Coronary Artery Disease |
Associate
|
34777632 |
| COVID 19 |
Associate
|
34936684, 34966385, 36889300 |
| COVID 19 |
Inhibit
|
35312683 |
| Critical Illness |
Associate
|
36889300 |
| Crohn Disease |
Associate
|
22430437, 22467146, 31191543 |
| Cytomegalovirus Infections |
Associate
|
30088779 |
| Dermatitis Atopic |
Associate
|
22303482 |
| Diabetes Mellitus Type 1 |
Inhibit
|
27917625 |
| Diabetes Mellitus Type 1 |
Associate
|
35966054 |
| Diabetes Mellitus Type 2 |
Associate
|
27782101 |
| Diabetes Mellitus Type 2 |
Inhibit
|
30652669 |
| Diarrhea |
Stimulate
|
35398299 |
| Disease |
Associate
|
15247173 |
| Disease |
Stimulate
|
19737237 |
| Drug Hypersensitivity |
Associate
|
21272048, 24684577 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
24632715, 32983105, 36171010 |
| Ectodermal Dysplasia |
Associate
|
25577251 |
| Eosinophilic Esophagitis |
Associate
|
29374572 |
| Epstein Barr Virus Infections |
Associate
|
36044865 |
| Esophageal Achalasia |
Stimulate
|
39907396 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
25577251 |
| Gastroesophageal Reflux |
Associate
|
29374572 |
| Gingivitis |
Stimulate
|
25832120 |
| Gingivitis |
Associate
|
25832120 |
| Glioma |
Associate
|
31649684 |
| Gout |
Stimulate
|
27964744 |
| Graft vs Host Disease |
Associate
|
34539656, 37084847 |
| Graves Disease |
Associate
|
22014209 |
| Hashimoto Disease |
Inhibit
|
20696023 |
| Hashimoto Disease |
Stimulate
|
26634912, 27478306, 28690889 |
| Hematologic Diseases |
Associate
|
15286007 |
| Hepatitis Autoimmune |
Stimulate
|
28119269 |
| Hepatitis Autoimmune |
Associate
|
28597951, 29358858 |
| Hepatitis C |
Stimulate
|
31279905 |
| Hepatitis C Chronic |
Associate
|
27925349 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
15632006 |
| HIV Infections |
Associate
|
24520422, 27028319, 27525551, 31776286, 35432380 |
| HIV Infections |
Inhibit
|
26927799 |
| Hodgkin Disease |
Associate
|
15632006, 17158640, 34807923 |
| Hyperglycemia |
Stimulate
|
25894202 |
| Hypersensitivity Immediate |
Stimulate
|
27764137 |
| Hyperthyroidism |
Inhibit
|
25550791 |
| Hypothyroidism |
Stimulate
|
27478306 |
| Idiopathic Pulmonary Fibrosis |
Stimulate
|
30088779 |
| Ige Responsiveness Atopic |
Associate
|
28756630 |
| Immune System Diseases |
Associate
|
21289214, 36044865 |
| Immunologic Deficiency Syndromes |
Associate
|
33296702 |
| Infections |
Associate
|
22490682, 34376481 |
| Infectious Mononucleosis |
Associate
|
26416268 |
| Inflammation |
Associate
|
16179640, 19127215, 26740106, 28714566, 35660024, 36857067 |
| Inflammatory Bowel Diseases |
Associate
|
22430437, 35660024 |
| Influenza Human |
Associate
|
36958335 |
| Invasive Pneumococcal Disease Recurrent Isolated 2 |
Associate
|
33296702 |
| Kidney Diseases |
Stimulate
|
19422348 |
| Kidney Diseases |
Associate
|
30782609, 33092653 |
| Latent Infection |
Inhibit
|
36824620 |
| Leukemia Hairy Cell |
Associate
|
24903677 |
| Leukemia Large Granular Lymphocytic |
Associate
|
21983879 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
23247726, 24497611 |
| Lown Ganong Levine Syndrome |
Stimulate
|
33475152 |
| Lupus Erythematosus Systemic |
Associate
|
21272048, 26916970, 29717110, 31090539, 31263277, 33329581, 33475152, 37204055, 37451321, 37840148 |
| Lymphatic Metastasis |
Associate
|
22416188, 25577251 |
| Lymphoma |
Associate
|
34807923 |
| Lymphoma Large B Cell Diffuse |
Associate
|
32079690 |
| Lymphoma T Cell Peripheral |
Associate
|
24632715, 30782609, 31562134, 35301414, 35839444 |
| Lymphoproliferative Disorders |
Associate
|
31558678 |
| Malaria |
Stimulate
|
32983106 |
| Melanoma |
Associate
|
30728070, 33275172, 37435067 |
| Melanoma Cutaneous Malignant |
Associate
|
32561704 |
| Mucocutaneous Lymph Node Syndrome |
Inhibit
|
15270865 |
| Multiple Sclerosis |
Inhibit
|
16754722 |
| Multiple Sclerosis |
Associate
|
24495857, 35250986, 35626671, 37451321, 38009648 |
| Multiple Sclerosis Chronic Progressive |
Associate
|
37268957 |
| Mycobacterium Infections |
Associate
|
33296702 |
| Myocardial Infarction |
Associate
|
37798364 |
| Myocarditis |
Associate
|
21422001 |
| Nasal Polyps |
Associate
|
19639723, 31326962 |
| Neoplasm Metastasis |
Associate
|
22416188, 36281585 |
| Neoplasms |
Stimulate
|
16371631, 28674001, 34680134 |
| Neoplasms |
Associate
|
21750556, 23090288, 23213058, 23243425, 25270738, 25400774, 25480946, 26348446, 26470881, 30029633, 30658697, 31069590, 31227749, 32561704, 33346915, 34975867, 35432380, 35955786, 37974379 View all (4 more) |
| Nephrotic Syndrome |
Associate
|
29717110 |
| Nose Diseases |
Associate
|
19639723 |
| Obesity |
Inhibit
|
23857381 |
| Obesity |
Associate
|
33708209 |
| Oropharyngeal Neoplasms |
Associate
|
30658697 |
| Osteoporosis |
Associate
|
36755691 |
| Paraparesis Tropical Spastic |
Stimulate
|
15572854 |
| Paraparesis Tropical Spastic |
Associate
|
24960164 |
| Parkinson Disease |
Associate
|
27230441 |
| pediatric multisystem inflammatory disease COVID 19 related |
Associate
|
34381049 |
| Periapical Diseases |
Associate
|
39972438 |
| Periodontal Diseases |
Associate
|
25832120 |
| Polyps |
Associate
|
27468819 |
| Pre Eclampsia |
Associate
|
27999241 |
| Purpura Thrombocytopenic Idiopathic |
Associate
|
25298039, 27050808, 30936868 |
| Radicular Cyst |
Associate
|
39972438 |
| Renal cell carcinoma 1 |
Associate
|
27764137 |
| Ring Chromosome 20 Syndrome |
Stimulate
|
39367456 |
| Sarcoidosis |
Associate
|
24768588, 26254778, 26696750, 27230441, 32774332, 36857067 |
| Sarcoidosis Pulmonary |
Stimulate
|
21540308 |
| Sarcoidosis Pulmonary |
Associate
|
26696750 |
| Scleroderma Systemic |
Associate
|
19950257, 22521571 |
| Sjogren's Syndrome |
Associate
|
32201227 |
| Sleep Deprivation |
Associate
|
24194869 |
| Spinal Cord Diseases |
Associate
|
24960164 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
26740106, 30658697 |
| Status Asthmaticus |
Associate
|
15604153, 24107858 |
| Status Asthmaticus |
Inhibit
|
17302903, 23857381 |
| Status Epilepticus |
Stimulate
|
37939189 |
| Stomach Neoplasms |
Associate
|
22416188, 23090288, 23243425 |
| Stomach Neoplasms |
Inhibit
|
25270738 |
| Takayasu Arteritis |
Associate
|
34915894, 35126357 |
| Tertiary Lymphoid Structures |
Associate
|
25577251 |
| Thrombocytopenia 1 |
Associate
|
25253772 |
| Thyroiditis Autoimmune |
Associate
|
22014209 |
| Tn Syndrome |
Inhibit
|
29892290 |
| Toxoplasmosis Ocular |
Associate
|
23100559 |
| Triple Negative Breast Neoplasms |
Associate
|
31069590 |
| Tuberculosis |
Associate
|
29921861 |
| Turcot syndrome |
Stimulate
|
26496037 |
| Urinary Bladder Neoplasms |
Stimulate
|
27237631 |
| Urinary Bladder Neoplasms |
Associate
|
37950728 |
| Uveitis |
Stimulate
|
16234441 |
| Uveitis |
Associate
|
29774027, 36857067 |
| Uveomeningoencephalitic Syndrome |
Associate
|
16234441 |
| Vasculitis |
Associate
|
31279905 |
| Virus Diseases |
Associate
|
29921861, 37451321 |
| White Coat Hypertension |
Inhibit
|
24495857 |
| Wiskott Aldrich Syndrome |
Associate
|
20574068 |
|