|
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 |
| Dental caries |
Dental caries |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Neuroblastoma |
Neuroblastoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate
|
36385130 |
| Adenomatous Polyposis Coli |
Associate
|
10666387 |
| Astrocytoma |
Associate
|
18322268 |
| Breast Diseases |
Associate
|
11238049 |
| Breast Neoplasms |
Associate
|
12671706, 20132413, 22106898, 27081041, 27629143, 30452451, 31979064, 34696661, 40644891 |
| Breast Neoplasms Male |
Associate
|
23308200 |
| Carcinoma Hepatocellular |
Associate
|
33883691 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
11238049 |
| Carcinoma Renal Cell |
Associate
|
12384800, 15994878, 20936840, 29481555, 33604999, 9770531 |
| Carcinoma Squamous Cell |
Stimulate
|
22439015 |
| Colorectal Neoplasms |
Associate
|
10666387, 15849821, 27688658 |
| Coronary Artery Disease |
Associate
|
35151267 |
| Cystic Fibrosis |
Inhibit
|
33533914 |
| Esophagitis |
Associate
|
33939141 |
| Fibrocartilaginous embolism |
Associate
|
29941029 |
| Fibrolamellar hepatocellular carcinoma |
Associate
|
28304380, 32294439 |
| Gastroesophageal Reflux |
Associate
|
33939141 |
| Glaucoma |
Stimulate
|
12676895 |
| Glioblastoma |
Associate
|
18322268 |
| Hypoxia |
Associate
|
11238049, 12671706, 16416108 |
| Hypoxia |
Stimulate
|
19291313 |
| Hypoxia Brain |
Stimulate
|
11238039 |
| Infections |
Associate
|
33533914 |
| Intervertebral Disc Degeneration |
Associate
|
22127705 |
| Lung Neoplasms |
Associate
|
22439015, 37587861 |
| Medulloblastoma |
Associate
|
20398423 |
| Necrosis |
Associate
|
11238049, 12671706 |
| Neoplasm Metastasis |
Associate
|
11238039 |
| Neoplasm Metastasis |
Inhibit
|
16416108 |
| Neoplasms |
Associate
|
10666387, 11238039, 11238049, 12671706, 12854129, 16416108, 18322268, 19291313, 20398423, 21040567, 29251173, 31546841, 32891000, 33196683, 33604999, 35901081, 37404090, 37587861, 9770531 View all (4 more) |
| Neoplasms |
Inhibit
|
15849821 |
| Neoplasms |
Stimulate
|
27009166, 35695123 |
| Neuroectodermal Tumors |
Associate
|
20398423 |
| Ovarian Neoplasms |
Associate
|
35901081 |
| Retinal Dysplasia |
Associate
|
10666387 |
| Thyroid Neoplasms |
Associate
|
16675914, 27776138 |
| Triple Negative Breast Neoplasms |
Associate
|
31979064 |
| Uterine Cervical Neoplasms |
Associate
|
16416108, 21040567 |
| Uveal melanoma |
Associate
|
33196683, 35536719 |
| von Hippel Lindau Disease |
Inhibit
|
9770531 |
| Vulvar Neoplasms |
Associate
|
22673103 |
|