|
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 |
| Carcinoma |
Basal cell carcinoma |
N/A |
N/A |
GWAS |
| Coronary Heart Disease |
Coronary heart disease |
N/A |
N/A |
GWAS |
| Lung adenocarcinoma |
Lung adenocarcinoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Activated Protein C Resistance |
Associate
|
11703344, 21564075 |
| Acute Coronary Syndrome |
Associate
|
14640893 |
| Allergic Fungal Sinusitis |
Associate
|
35271862 |
| Angina Unstable |
Stimulate
|
14640893 |
| Atherosclerosis |
Associate
|
14522500, 19467658, 26826018, 28749986 |
| Atrial Fibrillation |
Inhibit
|
28471981 |
| Atrial Fibrillation |
Associate
|
36253349 |
| Blood Coagulation Disorders |
Inhibit
|
10072106, 11380428, 21895962, 26826018, 28716011 |
| Blood Coagulation Disorders |
Associate
|
18695356, 25042561, 28749986, 28894953, 35014954, 35271862, 36142345, 40629026, 8652818 |
| Breast Neoplasms |
Associate
|
21849050, 23071754, 23320987, 25407022, 25617766, 25849335, 25882602, 26598923, 26999003, 26999742 |
| Carotid Artery Thrombosis |
Associate
|
21895962 |
| Cognition Disorders |
Stimulate
|
33725412 |
| Colitis Ulcerative |
Associate
|
24966616 |
| Colitis Ulcerative |
Stimulate
|
31038478 |
| Colorectal Neoplasms |
Associate
|
35477541 |
| Corneal Endothelial Cell Loss |
Associate
|
21868574 |
| Coronary Artery Disease |
Associate
|
10440909, 28716011, 28894953 |
| Coronary Artery Disease |
Stimulate
|
19467658 |
| Coronary Restenosis |
Associate
|
10440909 |
| Coronary Restenosis |
Inhibit
|
9141493 |
| COVID 19 |
Associate
|
35014954, 36142345 |
| Coxa Magna |
Associate
|
18695356 |
| Crohn Disease |
Stimulate
|
31038478 |
| Death Sudden |
Associate
|
25602437 |
| Diabetes Mellitus |
Stimulate
|
19467658 |
| Diabetes Mellitus |
Associate
|
21935671, 28716011 |
| Disseminated Intravascular Coagulation |
Associate
|
24127605 |
| Dyssomnias |
Associate
|
35014954 |
| Factor V Deficiency |
Inhibit
|
18695002 |
| Factor V Deficiency |
Associate
|
19861681 |
| Factor VII Deficiency |
Associate
|
35973191 |
| Fetal Growth Retardation |
Associate
|
30917529 |
| Fibrosarcoma |
Associate
|
25893404 |
| Glioma |
Associate
|
33947134 |
| Gliosarcoma |
Associate
|
7485395 |
| Glomerulonephritis |
Associate
|
10200995 |
| Head and Neck Neoplasms |
Associate
|
24466029 |
| Heart Failure |
Associate
|
10885426 |
| Hemorrhage |
Associate
|
18695002, 19861681, 23979154, 34847292, 35973191 |
| Hemorrhagic Disorders |
Associate
|
25634741 |
| Hepatitis B |
Associate
|
25882602 |
| HIV Infections |
Associate
|
28749986 |
| Hypoxia |
Inhibit
|
26598923, 26826018 |
| Hypoxia |
Associate
|
35309336 |
| Hypoxia Brain |
Associate
|
26826018 |
| Immunologic Deficiency Syndromes |
Associate
|
35973191 |
| Inflammation |
Associate
|
18310227, 31038478, 35309336 |
| Inflammatory Bowel Diseases |
Associate
|
31038478 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
33664415 |
| Mesothelioma Malignant |
Associate
|
7485395 |
| Myocardial Infarction |
Associate
|
11389008, 21895962 |
| Myocardial Infarction |
Stimulate
|
14640893 |
| Nasal Polyps |
Associate
|
35271862 |
| Neoplasm Metastasis |
Associate
|
25849335 |
| Neoplasms |
Associate
|
21849050, 23071754, 25407022, 25617766, 25849335, 25882602, 3031469 |
| Neoplasms |
Inhibit
|
23320987 |
| Neoplasms Mesothelial |
Associate
|
10885426 |
| Osteogenesis imperfecta type 3 |
Stimulate
|
20378562, 20421270 |
| Pancreatic Neoplasms |
Associate
|
21071578 |
| Pleural Effusion |
Associate
|
10885426 |
| Pleural Neoplasms |
Associate
|
10885426 |
| Pre Eclampsia |
Associate
|
15954879 |
| Prostatic Neoplasms |
Associate
|
32873277 |
| Protein S Deficiency |
Inhibit
|
20002538 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
21624643 |
| Pulmonary Edema |
Associate
|
18310227 |
| Pulmonary Embolism |
Associate
|
33128086 |
| Respiratory Distress Syndrome |
Stimulate
|
18310227 |
| Soft Tissue Injuries |
Inhibit
|
11380428 |
| Stroke |
Associate
|
36253349 |
| Tertiary Lymphoid Structures |
Associate
|
25882602 |
| Thrombocythemia Essential |
Stimulate
|
27243342 |
| Thrombophilia |
Associate
|
17764874 |
| Thrombosis |
Associate
|
11380428, 27243342, 34265605 |
| Thrombosis |
Inhibit
|
28471981 |
| Thyroid Cancer Papillary |
Associate
|
32299435, 34115774 |
| Tomaculous neuropathy |
Associate
|
25634741, 33496735 |
| Uveal melanoma |
Associate
|
33120861 |
| Vascular Diseases |
Stimulate
|
19467658 |
| Vascular Diseases |
Associate
|
21868574 |
| Venous Thromboembolism |
Inhibit
|
20431849 |
| Venous Thromboembolism |
Associate
|
39365993 |
| Venous Thrombosis |
Associate
|
11380428, 18695356, 20431849, 21895962 |
|