|
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 |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Migraine with Aura |
Migraine with aura |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| alpha 1 Antitrypsin Deficiency |
Stimulate
|
22621770 |
| Alzheimer Disease |
Associate
|
31545826 |
| Arthritis Rheumatoid |
Associate
|
25880754, 36301038 |
| Ascites |
Inhibit
|
34363722 |
| Breast Neoplasms |
Associate
|
27993161, 35112997 |
| Breast Neoplasms |
Inhibit
|
31640084 |
| Carcinogenesis |
Associate
|
18783612, 21543766 |
| Carcinoma Hepatocellular |
Associate
|
35816613 |
| Carcinoma Hepatocellular |
Inhibit
|
37400979 |
| Carcinoma Non Small Cell Lung |
Associate
|
31841191, 32196605 |
| Carcinoma Ovarian Epithelial |
Associate
|
34794761 |
| Carcinoma Renal Cell |
Associate
|
37010151 |
| Colitis Ulcerative |
Associate
|
37055577 |
| Colorectal Neoplasms |
Associate
|
37370046 |
| Diabetes Mellitus |
Associate
|
31545826 |
| Diabetic Nephropathies |
Associate
|
29207157, 35285770 |
| Endometrial Neoplasms |
Associate
|
18783612 |
| Endometrial Neoplasms |
Inhibit
|
21543766 |
| Endometriosis |
Associate
|
21987111, 22259059 |
| Fibular hypoplasia and complex brachydactyly |
Associate
|
36550808 |
| Glioblastoma |
Associate
|
21280156, 30348136 |
| Glioma |
Associate
|
30348136 |
| Infertility |
Associate
|
21987111 |
| Inflammation |
Associate
|
36301038, 40533763 |
| Kidney Failure Chronic |
Stimulate
|
22621770 |
| Leukemia Myeloid Acute |
Associate
|
34339537 |
| Liver Cirrhosis |
Associate
|
22621770 |
| Lung Neoplasms |
Associate
|
26045791, 35501353 |
| Malformations of Cortical Development Group I |
Stimulate
|
30348136 |
| Mediastinal Emphysema |
Associate
|
22621770 |
| Metabolic Diseases |
Associate
|
36078120 |
| Multiple Myeloma |
Associate
|
22144178, 30768683 |
| Nasopharyngeal Carcinoma |
Associate
|
32633365 |
| Neoplasm Metastasis |
Associate
|
35501825, 37833790 |
| Neoplasm Metastasis |
Inhibit
|
37400979 |
| Neoplasms |
Associate
|
18783612, 35440061, 35495878, 35501353, 36550808, 37010151 |
| Neoplasms |
Inhibit
|
21280156, 26045791, 33477333, 34363722 |
| Obesity |
Associate
|
22344221 |
| Osteoarthritis |
Associate
|
35902862 |
| Osteoarthritis |
Inhibit
|
40533763 |
| Osteosarcoma |
Associate
|
35758280 |
| Ovarian Neoplasms |
Associate
|
34363722, 35501825 |
| Ovarian Neoplasms |
Inhibit
|
37833790 |
| Parkinson Disease |
Associate
|
36593912 |
| Precancerous Conditions |
Associate
|
18783612 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
22621770 |
| Schizophrenia |
Associate
|
34323598 |
| Sleep Wake Disorders |
Associate
|
31545826 |
| Stroke |
Associate
|
31545826 |
| Thyroid cancer medullary |
Associate
|
30552230 |
| Urinary Bladder Neoplasms |
Associate
|
35495878 |
| Uterine Cervical Neoplasms |
Associate
|
25119587, 35609330 |
|