|
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 |
| Angioedema |
angioedema, hereditary, 5 |
N/A |
N/A |
GenCC |
| Congenital glaucoma |
primary congenital glaucoma |
N/A |
N/A |
GenCC |
| Glaucoma |
glaucoma, Glaucoma |
N/A |
N/A |
GenCC, GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate
|
32680471 |
| Adenocarcinoma |
Inhibit
|
17785951 |
| Adenocarcinoma of Lung |
Inhibit
|
22048948 |
| Adenocarcinoma of Lung |
Associate
|
32669531, 34039311 |
| Alzheimer Disease |
Associate
|
39394418 |
| Angioedemas Hereditary |
Associate
|
32578786, 33593719, 33799813, 36787826 |
| Arthritis |
Associate
|
12525377 |
| Arthritis Juvenile |
Associate
|
20722033 |
| Arthritis Rheumatoid |
Associate
|
12010571, 12525377 |
| Atherosclerosis |
Associate
|
26283334 |
| Autoimmune Diseases |
Associate
|
20722033 |
| Blood Loss Surgical |
Associate
|
11891175 |
| Breast Neoplasms |
Associate
|
23232696, 27703260, 28045923, 29959560, 31619709, 31642813, 34685578, 35617355, 37176055, 39302921 |
| Bronchopulmonary Dysplasia |
Associate
|
18420967, 31967847 |
| Carcinogenesis |
Associate
|
15517881, 24404127 |
| Carcinoma Hepatocellular |
Associate
|
14600132, 16830384, 36157115 |
| Carcinoma Mucoepidermoid |
Associate
|
21948244 |
| Carcinoma Renal Cell |
Associate
|
17505508 |
| Carcinoma Transitional Cell |
Associate
|
15517881 |
| Cartilage Diseases |
Associate
|
16565972 |
| Cataract |
Stimulate
|
32180680 |
| Cerebrovascular Disorders |
Associate
|
28476896 |
| Chondrosarcoma |
Associate
|
16565972 |
| Colonic Neoplasms |
Associate
|
17785951 |
| Colorectal Neoplasms |
Associate
|
22496856, 22728324, 33573134 |
| COVID 19 |
Associate
|
35405523 |
| Dermatitis |
Stimulate
|
33481042 |
| Dermatitis Atopic |
Associate
|
39245941 |
| Diabetes Mellitus |
Associate
|
26120272 |
| Diabetes Mellitus |
Inhibit
|
35932065 |
| Diabetes Mellitus Type 2 |
Stimulate
|
35549955 |
| Diabetic Angiopathies |
Associate
|
31828164 |
| Diabetic Foot |
Associate
|
36232122 |
| Diabetic Retinopathy |
Associate
|
37249455 |
| Disease Progression |
Inhibit
|
34193611 |
| Ectodermal Dysplasia |
Associate
|
35628389 |
| Endometrial Neoplasms |
Associate
|
18644593 |
| Endometriosis |
Associate
|
18644593 |
| Febrile Neutropenia |
Associate
|
20509945 |
| Fibrosis |
Inhibit
|
32582222 |
| Gastrointestinal Stromal Tumors |
Associate
|
17724803 |
| Glaucoma |
Associate
|
32606567 |
| Glioblastoma |
Associate
|
9811337 |
| Glioma |
Associate
|
17189382, 34162919 |
| Glomerulonephritis Membranous |
Associate
|
26120272 |
| Head and Neck Neoplasms |
Associate
|
26171937 |
| Heart Failure |
Associate
|
31795484 |
| Hemangiosarcoma |
Associate
|
10854238, 23558570 |
| Hemolytic Uremic Syndrome |
Associate
|
23801605 |
| Hemorrhage |
Associate
|
20233519 |
| Hyperglycemia |
Associate
|
31828164 |
| Hyperplasia |
Associate
|
11436038 |
| Hypertension |
Associate
|
19218192 |
| Hypertension Pulmonary |
Stimulate
|
11436038 |
| Hypertension Pulmonary |
Associate
|
12571257, 34326408 |
| Hypertrophy |
Associate
|
11436038 |
| Hypoxia |
Inhibit
|
12213726 |
| Hypoxia |
Associate
|
30867055, 32351020, 35799115 |
| IgA Vasculitis |
Associate
|
17599743 |
| Infarction Anterior Cerebral Artery |
Associate
|
35628389 |
| Inflammation |
Associate
|
26283334 |
| Inflammation |
Inhibit
|
32582222 |
| Intervertebral Disc Degeneration |
Associate
|
28394321 |
| Intracranial Arteriovenous Malformations |
Associate
|
11463715 |
| Ischemia |
Associate
|
36232122 |
| Keloid |
Associate
|
25369801 |
| Kidney Failure Chronic |
Inhibit
|
34193611 |
| Leukemia Megakaryoblastic Acute |
Associate
|
9233584 |
| Leukemia Myeloid Acute |
Associate
|
23919981, 25605239, 26802051, 29286103 |
| Liver Cirrhosis Biliary |
Associate
|
17599743 |
| Lupus Erythematosus Systemic |
Associate
|
38162654 |
| Lymphoma Follicular |
Stimulate
|
33881493 |
| Lymphoma Primary Effusion |
Stimulate
|
25631079 |
| Lymphoma T Cell |
Associate
|
19120365 |
| Malaria |
Associate
|
23383853 |
| Malaria Cerebral |
Associate
|
23383853 |
| Mastocytosis |
Associate
|
33687603 |
| Menorrhagia |
Associate
|
11891175, 19406397 |
| Mesothelioma Malignant |
Associate
|
27509983 |
| Multiple Myeloma |
Associate
|
12649156 |
| Multiple Myeloma |
Stimulate
|
12930383 |
| Multiple Myeloma |
Inhibit
|
24355943 |
| Multiple Sclerosis |
Associate
|
30134823 |
| Myelodysplastic Syndromes |
Associate
|
21878936, 26802051 |
| Myopia |
Associate
|
32180680 |
| Nasal Polyps |
Associate
|
36304979 |
| Neoplasm Metastasis |
Associate
|
19916173, 37176055 |
| Neoplasms |
Associate
|
10506510, 15517881, 15816535, 16614513, 17724803, 23232696, 24341512, 25482628, 26044849, 26171937, 26686201, 27703260, 31642813, 33573134, 33713666, 34674640, 35848475, 36157115, 37495746, 9811337 View all (5 more) |
| Neurilemmoma |
Associate
|
17724803 |
| Neuroendocrine Tumors |
Associate
|
27994516 |
| Neurofibroma Plexiform |
Associate
|
21703400 |
| Obesity |
Associate
|
31640116 |
| Ossification Heterotopic |
Associate
|
18319563 |
| Ossification of the posterior longitudinal ligament of the spine |
Associate
|
18319563 |
| Osteosarcoma |
Associate
|
20340016 |
| Ovarian Neoplasms |
Stimulate
|
11071270 |
| Ovarian Neoplasms |
Associate
|
33713666 |
| Pancreatic Neoplasms |
Associate
|
21729304, 24341512 |
| Peripheral Arterial Disease |
Associate
|
24157526, 29876944 |
| Plasmacytoma anaplastic |
Stimulate
|
12930383 |
| Post Acute COVID 19 Syndrome |
Associate
|
37301958 |
| Pre Eclampsia |
Associate
|
36088594 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
19016730 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
21878936 |
| Prostatic Neoplasms |
Associate
|
30361641, 30866453 |
| Psoriasis |
Stimulate
|
11348459 |
| Pulmonary Edema |
Associate
|
26590154 |
| Renal Insufficiency Chronic |
Inhibit
|
23409162 |
| Retinopathy of Prematurity |
Inhibit
|
31266060 |
| Sarcoma Kaposi |
Associate
|
10854238, 25631079 |
| Scleroderma Systemic |
Associate
|
39515460 |
| Sepsis |
Associate
|
20509945 |
| Shock |
Associate
|
30286031 |
| Shock Septic |
Associate
|
20509945 |
| Skin Neoplasms |
Inhibit
|
20072135 |
| Stomach Neoplasms |
Associate
|
16614513, 19916173 |
| Thyroid Cancer Papillary |
Stimulate
|
23663694 |
| Urinary Bladder Neoplasms |
Associate
|
15517881 |
| Uterine Hemorrhage |
Associate
|
20233519 |
| Vascular Diseases |
Associate
|
23801605, 32680471 |
| Vascular Remodeling |
Inhibit
|
32582222 |
| Weight Loss |
Inhibit
|
23401397 |
|