|
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 |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Uveal Melanoma |
Uveal melanoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
22721621 |
| Ataxia Telangiectasia |
Associate
|
1609804 |
| Breast Neoplasms |
Inhibit
|
22138580, 24950909, 27535224 |
| Breast Neoplasms |
Associate
|
24651077, 28216417 |
| Carcinogenesis |
Associate
|
27081037, 33446568 |
| Carcinoma Hepatocellular |
Inhibit
|
30566565 |
| Carcinoma Non Small Cell Lung |
Associate
|
22721621, 32901838 |
| Carcinoma Non Small Cell Lung |
Stimulate
|
26599082 |
| Carcinoma Pancreatic Ductal |
Associate
|
24864129 |
| Carcinoma Squamous Cell |
Associate
|
22721621, 32640423 |
| Colorectal Neoplasms |
Stimulate
|
33495406, 37837384 |
| Colorectal Neoplasms |
Associate
|
33824865 |
| Hematologic Neoplasms |
Associate
|
22138580 |
| Hepatitis B |
Inhibit
|
24651077 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
24651077 |
| Hypoxia |
Stimulate
|
27535224 |
| Hypoxia Brain |
Stimulate
|
27535224 |
| Leukemia Biphenotypic Acute |
Associate
|
39384181 |
| Lymphatic Metastasis |
Associate
|
22721621, 24864129, 27145374, 29693120 |
| Lymphatic Metastasis |
Stimulate
|
27081037, 33495406 |
| Machado Joseph Disease |
Associate
|
32205469 |
| Melanoma |
Associate
|
33118318 |
| Nasopharyngeal Carcinoma |
Associate
|
27145374, 29693120, 37248790 |
| Neoplasm Invasiveness |
Associate
|
23201130 |
| Neoplasm Metastasis |
Associate
|
25295583, 29693120, 30643195, 33118318 |
| Neoplasm Metastasis |
Stimulate
|
27145374, 33446568 |
| Neoplasms |
Inhibit
|
12057920, 22138580, 22721621, 24651077, 26191199, 27535224 |
| Neoplasms |
Associate
|
24864129, 24950909, 26381412, 27081037, 29693120, 30566565, 30643195, 32994394, 33011193, 33118318, 33495406 |
| Neoplasms |
Stimulate
|
33446568, 37837384 |
| Neoplasms Basal Cell |
Associate
|
26987391 |
| Ovarian Neoplasms |
Associate
|
33011193 |
| Pancreatic Neoplasms |
Associate
|
24864129 |
| Pancreatic Neoplasms |
Stimulate
|
33011193, 33446568 |
| Personality Disorders |
Associate
|
30643195 |
| Prostatic Neoplasms |
Associate
|
12057920, 24485335 |
| Prostatitis |
Associate
|
24485335 |
| Stomach Neoplasms |
Associate
|
26191199, 36876422 |
| Thyroid Cancer Papillary |
Associate
|
32994394, 33318312 |
| Urethral Neoplasms |
Associate
|
23201130 |
| Urinary Bladder Neoplasms |
Associate
|
23201130, 26987391, 30643195 |
| Uterine Cervical Neoplasms |
Associate
|
26071105 |
| Uterine Cervical Neoplasms |
Stimulate
|
27081037 |
|