|
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 |
| Breast Cancer |
Breast cancer and/or colorectal cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abortion Habitual |
Associate
|
25086789 |
| Abortion Spontaneous |
Associate
|
25086789 |
| Alzheimer Disease |
Associate
|
32812532 |
| Androgen Insensitivity Syndrome |
Associate
|
34867780 |
| Blood Platelet Disorders |
Associate
|
15010364, 17690106, 18826391, 20526338, 20723028, 23168074, 23580446, 25645904, 26330203, 28300459, 30213874, 30545925, 30721642, 35041713, 35596611, 35955827, 36736831, 37302266 View all (3 more) |
| Blood Platelet Disorders |
Stimulate
|
28004756 |
| Brain Ischemia |
Associate
|
19686349 |
| Carcinogenesis |
Inhibit
|
32315343 |
| Carcinoma Hepatocellular |
Inhibit
|
38143739 |
| Cardiovascular Diseases |
Associate
|
19686349, 20723028, 23411630, 26330203 |
| Carotid Artery Thrombosis |
Associate
|
28004756 |
| Cerebral Infarction |
Associate
|
23168074 |
| Cognition Disorders |
Associate
|
32812532 |
| Colorectal Neoplasms |
Associate
|
32655010 |
| Coronary Disease |
Associate
|
17105818 |
| Death |
Associate
|
27761580 |
| Diabetes Mellitus |
Associate
|
21854539 |
| Diabetes Mellitus Type 2 |
Associate
|
33076381 |
| Endometrial Neoplasms |
Associate
|
32315343 |
| Fetal Diseases |
Associate
|
25086789 |
| Genetic Diseases Inborn |
Associate
|
32917333 |
| Gray Platelet Syndrome |
Associate
|
15010364 |
| Heart Failure |
Associate
|
28953486 |
| Hematologic Diseases |
Associate
|
32098966 |
| Hemorrhage |
Associate
|
12359731, 23815599, 28953486, 35596611 |
| Hemorrhagic Stroke |
Associate
|
35041713 |
| Hyperplasia |
Inhibit
|
32833579 |
| Hypersensitivity Immediate |
Associate
|
23168074 |
| Immunologic Deficiency Syndromes |
Inhibit
|
17059472, 19522742, 32627625 |
| Ischemic Attack Transient |
Associate
|
19686349 |
| Leukemia Lymphocytic Chronic B Cell |
Inhibit
|
34912339 |
| Leukemia Myeloid Acute |
Associate
|
32098966 |
| Melanoma |
Associate
|
1715582 |
| Multiple Sclerosis Chronic Progressive |
Stimulate
|
39613182 |
| Myelodysplastic Syndromes |
Associate
|
32098966 |
| Myocardial Infarction |
Associate
|
19686349, 20227257, 20723028, 25093390, 28004756 |
| Neoplasm Metastasis |
Stimulate
|
32315343 |
| Neoplasms |
Associate
|
32655010, 34290095 |
| Neoplasms Adipose Tissue |
Associate
|
32655010 |
| Noonan Syndrome |
Associate
|
37302266 |
| Obesity |
Associate
|
30658193, 33147989 |
| Papillomavirus Infections |
Associate
|
32859640 |
| Parkinson Disease |
Associate
|
33021140 |
| Prostatic Neoplasms |
Associate
|
23555315 |
| Pulmonary Disease Chronic Obstructive |
Inhibit
|
32440109 |
| Purpura Thrombocytopenic Idiopathic |
Associate
|
35561312 |
| ST Elevation Myocardial Infarction |
Associate
|
28004756 |
| Stroke |
Associate
|
10339462, 19686349 |
| Stroke |
Stimulate
|
35041713 |
| Thrombocytopenia |
Associate
|
36736831 |
| Thrombosis |
Associate
|
17059472, 17690106, 18826391, 19459133, 19686349, 20227257, 22431567, 23815599, 30545925, 30721642, 32627625, 35561312, 35955827, 37302266, 38236412 |
| Uterine Cervical Dysplasia |
Associate
|
36768853 |
| Uterine Cervical Neoplasms |
Associate
|
25743824 |
| Vascular System Injuries |
Associate
|
10468872 |
| Venous Thromboembolism |
Associate
|
19278955, 23150947, 27761580, 37537391 |
| Venous Thrombosis |
Associate
|
18349091 |
| von Willebrand Disease Type 1 |
Associate
|
15226188 |
|