|
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 |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Coronary Syndrome |
Associate
|
34753383 |
| Adenocarcinoma of Lung |
Associate
|
34580602 |
| Arthritis Rheumatoid |
Associate
|
18292234 |
| Bipolar Disorder |
Associate
|
27759212 |
| Breast Neoplasms |
Associate
|
20678512, 23294542, 37747033 |
| Breast Neoplasms |
Stimulate
|
28607528 |
| Buschke Lowenstein Tumor |
Associate
|
23569139 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
37373062 |
| Clinical Deterioration |
Stimulate
|
25997515 |
| Colorectal Neoplasms |
Associate
|
11485903, 25362357 |
| Colorectal Neoplasms |
Inhibit
|
35924107 |
| COVID 19 |
Associate
|
33414384, 39334929 |
| Dermatitis Atopic |
Associate
|
32035984 |
| Endometrial Neoplasms |
Associate
|
37276865, 38217544 |
| Endometriosis |
Associate
|
35992117 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
26263981, 36434949, 36921563 |
| Gastrointestinal Neoplasms |
Associate
|
25362357, 28607528 |
| Glomerulonephritis |
Associate
|
18368027 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
38217544 |
| Hermansky Pudlak syndrome 2 |
Inhibit
|
27207797 |
| Hypoxia |
Associate
|
23294542, 37878884 |
| Hypoxia |
Stimulate
|
26191259, 26263981, 28849219 |
| Inflammation |
Associate
|
12186835, 31842954, 34359833, 34580602 |
| Inflammation |
Stimulate
|
18671865, 25997515 |
| Influenza Human |
Associate
|
25345603, 34367124 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
19074592 |
| Lipoma of the Conjunctiva |
Associate
|
34349764 |
| Necrosis |
Stimulate
|
37373062 |
| Neoplasm Metastasis |
Associate
|
23294542, 28849219 |
| Neoplasms |
Associate
|
23294542, 25362357, 26191259, 28607528, 31675496, 32605588, 36305631, 37740656, 38033043 |
| Neoplasms |
Stimulate
|
26263981, 37373062, 38169917 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
37082269 |
| Osteoporosis |
Associate
|
39778696 |
| Osteosarcoma |
Stimulate
|
28849219 |
| Osteosarcoma |
Associate
|
30008754 |
| Ovarian Neoplasms |
Associate
|
28349821 |
| Parkinson Disease |
Associate
|
21812969, 24312176 |
| Parkinson Disease |
Inhibit
|
22786590 |
| Pre Eclampsia |
Stimulate
|
37878884 |
| REM Sleep Behavior Disorder |
Associate
|
33397775 |
| Sarcoma Kaposi |
Associate
|
36377873 |
| Sjogren's Syndrome |
Associate
|
32939030, 34349764 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
26191259, 28607528, 37740656 |
| Stomach Neoplasms |
Associate
|
25362357, 37215115 |
| Triple Negative Breast Neoplasms |
Stimulate
|
34224371 |
| Triple Negative Breast Neoplasms |
Associate
|
37512096 |
| Urethral Neoplasms |
Associate
|
36939254 |
| Uterine Cervical Neoplasms |
Associate
|
28607528 |
| Wiskott Aldrich Syndrome |
Stimulate
|
11745360 |
|