|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
32928150 |
| Angiofibroma |
Associate
|
22337624, 27633981, 37680034 |
| Arthritis Rheumatoid |
Associate
|
28403070, 34302046, 35309329 |
| Atherosclerosis |
Associate
|
30915882, 35039093 |
| Azoospermia |
Associate
|
17559847 |
| Breast Neoplasms |
Inhibit
|
16755028 |
| Breast Neoplasms |
Associate
|
28681081 |
| Carcinogenesis |
Associate
|
22412903, 36093686 |
| Cardiovascular Diseases |
Associate
|
31369996 |
| Chromosome Aberrations |
Associate
|
23344457 |
| Cleft Palate |
Stimulate
|
28425186 |
| Colitis Ulcerative |
Associate
|
38001042, 38238335 |
| Crohn Disease |
Associate
|
38001042 |
| Dermatitis Atopic |
Associate
|
31868801 |
| Endometriosis |
Associate
|
16084889, 17513317, 19501819, 32295439 |
| Essential Hypertension |
Associate
|
27977510 |
| Gallbladder Neoplasms |
Inhibit
|
32801256 |
| Hepatitis Autoimmune |
Associate
|
32663496 |
| Infertility Male |
Associate
|
15474075, 17559847 |
| Inflammation |
Associate
|
28393844 |
| Inflammatory Bowel Diseases |
Associate
|
38238335 |
| Lung Diseases |
Associate
|
30343628, 30915882 |
| Lung Neoplasms |
Associate
|
27632354, 27924164, 28100713, 28453567, 29262847, 29722794, 30730943, 31060609, 31369996, 32962699, 37150141, 37442331, 37691855 |
| Lymphoma Non Hodgkin |
Associate
|
37691855 |
| Mitochondrial Diseases |
Associate
|
36359818 |
| Mouth Neoplasms |
Associate
|
23648678 |
| Neoplasm Metastasis |
Inhibit
|
32801256 |
| Neoplasms |
Inhibit
|
22232023, 22952704, 28056099, 32801256 |
| Neoplasms |
Associate
|
23583445, 23648678, 27633981, 29722794, 34570895 |
| Obesity |
Associate
|
26252179 |
| Obesity Maternal |
Associate
|
26252179 |
| Oligospermia |
Associate
|
17559847 |
| Ovarian Neoplasms |
Associate
|
37511212 |
| Penis agenesis |
Associate
|
15758562 |
| Polycystic Ovary Syndrome |
Associate
|
33124502 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
6946844 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
28100713, 30940135, 36359818 |
| Sleep Initiation and Maintenance Disorders |
Associate
|
23768840, 36219910 |
| Sleep Wake Disorders |
Associate
|
23768840 |
| Smoke Inhalation Injury |
Associate
|
28453567, 36359818 |
| Stomach Neoplasms |
Inhibit
|
22952704 |
| Urinary Bladder Neoplasms |
Associate
|
36093686 |
|