|
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 |
| Asperger Syndrome |
Asperger syndrome |
N/A |
N/A |
GenCC |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acidosis |
Stimulate
|
33815297 |
| Adenocarcinoma |
Associate
|
8790198 |
| Allergic Fungal Sinusitis |
Stimulate
|
32029445 |
| Alzheimer Disease |
Associate
|
25390694 |
| Amyloid Neuropathies Familial |
Associate
|
25973863 |
| Amyotrophic Lateral Sclerosis |
Associate
|
26212797 |
| Arthritis |
Inhibit
|
14680506 |
| Arthritis |
Associate
|
29391448 |
| Arthritis Rheumatoid |
Associate
|
10555038, 21337319, 25430993, 29391448 |
| Arthritis Rheumatoid |
Inhibit
|
18383383 |
| Asthma |
Associate
|
20356986 |
| Asthma |
Stimulate
|
32029445 |
| Asthma |
Inhibit
|
7713199 |
| Atrial Fibrillation |
Associate
|
34853624 |
| Autism Spectrum Disorder |
Associate
|
23849776, 31332282, 32127416 |
| Autoimmune Diseases |
Associate
|
31089161, 32747757 |
| Bipolar Disorder |
Associate
|
20072116 |
| Bone Marrow Diseases |
Stimulate
|
40082825 |
| Breast Neoplasms |
Associate
|
12111125, 17727979, 18793708 |
| Bronchitis Chronic |
Associate
|
15572539 |
| Calcinosis Cutis |
Inhibit
|
27723613 |
| Carcinoma Bronchogenic |
Stimulate
|
8567995 |
| Carcinoma Hepatocellular |
Associate
|
10517918 |
| Carcinoma Hepatocellular |
Inhibit
|
18077011, 35864952 |
| Carcinoma Non Small Cell Lung |
Associate
|
36615660 |
| Cartilage Diseases |
Stimulate
|
26818776 |
| CD59 Deficiency |
Associate
|
35955723 |
| Cerebral Palsy |
Associate
|
22914463 |
| Chagas Disease |
Inhibit
|
30365640 |
| Cognition Disorders |
Associate
|
23849776 |
| Colitis Ulcerative |
Inhibit
|
29232715 |
| Colonic Neoplasms |
Associate
|
33140821 |
| Colorectal Neoplasms |
Associate
|
10769164, 24671823, 27935967, 30746900, 32235004, 32797167, 36890467, 8790198 |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects |
Associate
|
36085161 |
| Constipation |
Associate
|
27891695 |
| COVID 19 |
Associate
|
39237611, 40141308 |
| Cystic Fibrosis |
Associate
|
12368280, 1718974, 37146001 |
| Dehydration |
Associate
|
33815297 |
| Dermatitis Allergic Contact |
Inhibit
|
10384911 |
| Dermatitis Atopic |
Associate
|
11348464, 12445210 |
| Diabetes Mellitus |
Associate
|
37146001 |
| Diarrhea |
Associate
|
33815297, 34331515 |
| Diarrhea |
Stimulate
|
40082825 |
| Disease |
Inhibit
|
17291263 |
| Drug Hypersensitivity |
Stimulate
|
32029445 |
| Drug Hypersensitivity |
Associate
|
37876509 |
| Dry Eye Syndromes |
Associate
|
37876509 |
| Early Onset Glaucoma |
Associate
|
29391448 |
| Edema |
Inhibit
|
25711477 |
| Endocrine Gland Neoplasms |
Associate
|
9744346 |
| Esophageal Achalasia |
Inhibit
|
16105888 |
| Esophageal Achalasia |
Associate
|
30449890 |
| Gastrinoma |
Associate
|
9071943 |
| Gastritis |
Inhibit
|
27729741 |
| Graves Disease |
Inhibit
|
32747757 |
| Heart Diseases |
Inhibit
|
30365640 |
| Huntington Disease |
Associate
|
25430993 |
| Hypertension Pulmonary |
Inhibit
|
12727925, 14985177 |
| Hypokalemia |
Stimulate
|
33815297, 40082825 |
| Hypoxia |
Associate
|
35711425 |
| Infarction |
Stimulate
|
34853624 |
| Inflammation |
Stimulate
|
10026314, 11348464 |
| Inflammation |
Associate
|
10555038, 23168411, 32747757 |
| Inflammation |
Inhibit
|
14680506, 16227528, 20356986, 24827637, 31089161, 33291545, 34208590, 39201536, 40141308 |
| Inflammatory Bowel Diseases |
Associate
|
16227528 |
| Intestinal Neoplasms |
Associate
|
8790198 |
| Intestinal Pseudo Obstruction |
Associate
|
31144425 |
| Irritable Bowel Syndrome |
Associate
|
24763552, 26446924, 28711627, 33797165 |
| Keratoconus |
Associate
|
37460969 |
| Leukemia |
Associate
|
8384124 |
| Leukemia Myeloid Acute |
Associate
|
25331116 |
| Lung Neoplasms |
Associate
|
11193832 |
| Mandibular Nerve Injuries |
Associate
|
17692461 |
| Melanoma |
Associate
|
6602860 |
| Multiple Sclerosis |
Associate
|
39201536 |
| Myopia |
Associate
|
23637909 |
| Neoplasm Metastasis |
Inhibit
|
35864952 |
| Neoplasms |
Associate
|
15350548, 17727979, 24671823, 28569785, 32235004, 40082825, 8790198, 9744346 |
| Neoplasms |
Stimulate
|
8567995 |
| Neuroblastoma |
Associate
|
15009665, 15350548, 20007697, 2987932, 3200839, 34331515, 40082825 |
| Neurodegenerative Diseases |
Associate
|
25390694 |
| Neuroinflammatory Diseases |
Associate
|
37735116 |
| Obesity |
Associate
|
20379146, 22859961 |
| Osteoarthritis |
Associate
|
18383383, 21337319, 26818776, 34208590 |
| Pancreatic Neoplasms |
Associate
|
22405837, 9166939 |
| Parkinson Disease |
Inhibit
|
27891695 |
| Parkinson Disease |
Stimulate
|
28057070 |
| Parkinson Disease |
Associate
|
32022467 |
| Pelvic Organ Prolapse |
Associate
|
23915857 |
| Pheochromocytoma |
Associate
|
33815297 |
| Prostatic Neoplasms |
Associate
|
12506413, 12839880 |
| Psoriasis |
Associate
|
11348464, 25711477 |
| Pterygium |
Associate
|
36555331 |
| Pulmonary Arterial Hypertension |
Associate
|
20356986 |
| Rheumatic Diseases |
Associate
|
34208590 |
| Rhinitis |
Stimulate
|
14680090 |
| Rhinitis Allergic |
Stimulate
|
23168411 |
| Signs and Symptoms Digestive |
Associate
|
26427109 |
| Sjogren's Syndrome |
Associate
|
24827637 |
| Skin Diseases |
Associate
|
11348464 |
| Spinal Cord Injuries |
Associate
|
37803037 |
| Spondylitis Ankylosing |
Associate
|
25711477 |
| Status Asthmaticus |
Stimulate
|
16424217 |
| Syndrome |
Associate
|
33815297 |
| Vascular Remodeling |
Inhibit
|
20356986 |
| Vipoma |
Associate
|
27501174, 9071943, 9744346 |
| Vipoma |
Stimulate
|
33815297, 34331515 |
| Weight Loss |
Associate
|
33815297 |
|