|
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 |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Atherosclerosis |
Associate
|
18827892 |
| Breast Neoplasms |
Associate
|
19483093, 19740422, 23579816, 23699411, 23907597, 24884718, 26967566 |
| Carcinogenesis |
Associate
|
28085012, 29039612 |
| Carcinoma Hepatocellular |
Inhibit
|
28085012 |
| Carcinoma Renal Cell |
Associate
|
30816490 |
| Carcinoma Renal Cell |
Inhibit
|
33000206 |
| Carcinoma Squamous Cell |
Inhibit
|
31371629 |
| Combined Pituitary Hormone Deficiency |
Associate
|
35805171 |
| Diabetes Mellitus Type 1 |
Associate
|
33572095 |
| Diabetes Mellitus Type 2 |
Associate
|
34685582, 36552771, 36557031 |
| Endometrial Neoplasms |
Stimulate
|
31892849 |
| Endometriosis |
Inhibit
|
23749764 |
| Glucosephosphate Dehydrogenase Deficiency |
Associate
|
31892849 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
19483093 |
| Hypogonadism |
Associate
|
32982993, 35805171 |
| Idiopathic Hypogonadotropic Hypogonadism |
Associate
|
27086651 |
| Inflammation |
Associate
|
34685582, 36552771 |
| Insulin Resistance |
Associate
|
34685582 |
| Light Fixation Seizure Syndrome |
Associate
|
33649397 |
| Melanoma |
Associate
|
27210747 |
| Mesothelioma Malignant |
Associate
|
22011668 |
| Metabolic Diseases |
Associate
|
36552771 |
| Metabolic Syndrome |
Associate
|
35119092 |
| Neoplasm Metastasis |
Associate
|
31892849 |
| Neoplasms |
Associate
|
19483093, 23579816, 26581859, 26967566, 28085012, 28468300, 29039612, 31371629, 31892849, 33000206 |
| Neoplasms Adipose Tissue |
Associate
|
25609053 |
| Obesity |
Associate
|
25609053, 34685582, 36552771 |
| Osteosarcoma |
Inhibit
|
31106680 |
| Ovarian Diseases |
Associate
|
23749764 |
| Ovarian Neoplasms |
Associate
|
11461075 |
| Parkinson Disease |
Associate
|
32066731 |
| Polycystic Ovary Syndrome |
Associate
|
25609053, 32783135 |
| Puberty Delayed |
Associate
|
27086651 |
| Thrombocytopenia Neonatal Alloimmune |
Associate
|
2257303 |
| Uterine Cervical Neoplasms |
Associate
|
29039612 |
| Uterine Cervicitis |
Associate
|
29039612 |
|