|
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 |
| Asthma |
Asthma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alopecia |
Associate
|
35181715 |
| Alzheimer Disease |
Associate
|
15849667 |
| Alzheimer Disease |
Stimulate
|
33387303 |
| Aortic Dissection |
Associate
|
36818541 |
| Breast Neoplasms |
Associate
|
17922140, 31101119 |
| Carcinogenesis |
Associate
|
36750850 |
| Carcinoma Endometrioid |
Associate
|
34655178 |
| Carcinoma Hepatocellular |
Associate
|
19216803 |
| Carcinoma Renal Cell |
Associate
|
21957981, 27128972, 35440542, 35678045, 36750850, 40107723 |
| Carcinoma Squamous Cell |
Associate
|
31545452 |
| Carcinoma Squamous Cell |
Stimulate
|
35499473 |
| Cardiovascular Diseases |
Associate
|
15849667, 27999813, 30044909 |
| Colonic Neoplasms |
Associate
|
36817086 |
| Colorectal Neoplasms |
Associate
|
16893879, 17922140, 33907844, 35177765 |
| Colorectal Neoplasms |
Stimulate
|
31989785 |
| Corneal Endothelial Cell Loss |
Associate
|
36525817 |
| Diabetes Mellitus Type 2 |
Associate
|
25596852 |
| Endometrial Neoplasms |
Associate
|
31652035 |
| Endometrial Neoplasms |
Stimulate
|
37889548 |
| Fatty Liver |
Associate
|
30240470 |
| Fatty Liver Alcoholic |
Associate
|
32651404 |
| Glioma |
Associate
|
20495288 |
| Hepatoblastoma |
Inhibit
|
33256542 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
31101119 |
| Hyperlipidemias |
Associate
|
27999813, 32651404 |
| Hypothyroidism Congenital Nongoitrous 2 |
Associate
|
38412094 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
37423298 |
| Inflammatory Bowel Diseases |
Associate
|
34948292 |
| Insulin Resistance |
Associate
|
25596852 |
| Kidney Cortex Necrosis |
Associate
|
38287102 |
| Kidney Diseases |
Associate
|
30044909 |
| Leiomyosarcoma |
Stimulate
|
39295619 |
| Lymphatic Metastasis |
Associate
|
17622326 |
| Lymphatic Metastasis |
Stimulate
|
36291696 |
| Lymphoma Non Hodgkin |
Stimulate
|
32285726 |
| Metabolic Diseases |
Associate
|
31724854, 34655178 |
| Migraine Disorders |
Associate
|
27726107 |
| Myopathy with Giant Abnormal Mitochondria |
Associate
|
36525817 |
| Nasopharyngeal Carcinoma |
Associate
|
23838801 |
| Nasopharyngeal Neoplasms |
Associate
|
23838801 |
| Neoplasm Metastasis |
Associate
|
31043742, 32150326, 33645410, 35499473 |
| Neoplasm Metastasis |
Stimulate
|
35678045 |
| Neoplasm Metastasis |
Inhibit
|
37889548 |
| Neoplasms |
Associate
|
16893879, 17922140, 18724390, 19216803, 20495288, 23838801, 30044909, 31043742, 31101119, 31652035, 31724854, 31989785, 32150326, 33283625, 33523930, 33645410, 33907844, 34655178, 35177765, 35499473, 35678045, 36038127, 36291696, 36817086, 37423298, 39295619 View all (11 more) |
| Neoplasms |
Stimulate
|
23455543, 28412735, 32285726, 33446144 |
| Neoplasms |
Inhibit
|
28102366, 33256542, 37883365 |
| Neurodegenerative Diseases |
Associate
|
31724854, 33387303 |
| Non alcoholic Fatty Liver Disease |
Associate
|
30240470 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
22228636 |
| Obesity |
Associate
|
25596852, 29075643, 32651404, 33645410 |
| Osteoporosis |
Associate
|
15849667 |
| Ovarian Diseases |
Associate
|
36817086 |
| Ovarian Neoplasms |
Associate
|
28412735, 31043742, 32285726, 33283625, 33446144 |
| Pancreatic Neoplasms |
Stimulate
|
17012836 |
| Pancreatic Neoplasms |
Associate
|
25592232, 26942567 |
| Parkinson Disease |
Associate
|
30044909 |
| Parkinson Disease |
Stimulate
|
33387303 |
| Peritonitis |
Stimulate
|
33508890 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
19020309 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
21423603 |
| Spinal Dysraphism |
Associate
|
18553462 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
17622326, 36291696, 36817086 |
| Stomach Neoplasms |
Associate
|
27941907, 30044909, 33283625, 33508890, 34773716, 36817086, 38042786 |
| Urinary Bladder Neoplasms |
Associate
|
18724390, 37834386 |
| Urinary Bladder Neoplasms |
Stimulate
|
29148015 |
|