|
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 |
| Breast Cancer |
Breast cancer specific mortality in breast cancer |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes, Body mass index and type 2 diabetes (pairwise) |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Nephronophthisis |
nephronophthisis 1 |
N/A |
N/A |
GenCC |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
32149133, 36870548 |
| Adenocarcinoma of Lung |
Inhibit
|
39940703 |
| Alzheimer Disease |
Associate
|
36895559 |
| Arthritis Psoriatic |
Associate
|
25990289 |
| Arthritis Rheumatoid |
Associate
|
32744323 |
| Breast Neoplasms |
Associate
|
23690187, 30261893, 30840279, 30959550, 31059025, 31638237, 33371806 |
| Breast Neoplasms |
Inhibit
|
29193730 |
| Carcinogenesis |
Associate
|
32889785 |
| Carcinoma Hepatocellular |
Associate
|
30393368, 34923953, 36535531 |
| Carcinoma Ovarian Epithelial |
Associate
|
27941916, 35311457 |
| Carcinoma Renal Cell |
Associate
|
31400752, 32716909 |
| Carcinoma Squamous Cell |
Associate
|
29741786, 33960436, 39940703 |
| Cardiomyopathy Hypertrophic |
Associate
|
35401927 |
| Cardiomyopathy Hypertrophic |
Inhibit
|
37258203 |
| Cartilage Diseases |
Associate
|
18671975 |
| Cognition Disorders |
Associate
|
28225792 |
| Colitis Ulcerative |
Associate
|
37481583 |
| Colorectal Neoplasms |
Associate
|
29186710, 31144439 |
| Colorectal Neoplasms |
Inhibit
|
32889785 |
| Crohn Disease |
Associate
|
37481583 |
| Diabetes Mellitus |
Associate
|
19833888, 34801028 |
| Diabetes Mellitus Type 2 |
Associate
|
18567820, 18694974, 19833888, 22275441, 23967108, 25273842, 26599349 |
| Diabetic Retinopathy |
Associate
|
28821857 |
| Dysbiosis |
Associate
|
36291689 |
| Emergence Delirium |
Associate
|
36270064 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
35578166 |
| Fibrosis |
Associate
|
26503507, 33345447 |
| Fused Kidney |
Associate
|
39726319 |
| Glioblastoma |
Associate
|
35874989 |
| Glioma |
Inhibit
|
24833086 |
| Glioma |
Associate
|
34923953, 36449154 |
| Glutaric Acidemia I |
Associate
|
32604397 |
| Glycogen Storage Disease Type II |
Associate
|
32979492 |
| Hepatic Encephalopathy |
Associate
|
38212812 |
| Hypertrophy |
Inhibit
|
37258203 |
| Inflammation |
Associate
|
24098343 |
| Inflammatory Bowel Diseases |
Associate
|
37481583 |
| Insulin Resistance |
Associate
|
28225792 |
| Intervertebral Disc Degeneration |
Associate
|
19180493 |
| Lung Neoplasms |
Associate
|
33896828, 36870548 |
| Lymphatic Metastasis |
Stimulate
|
30970517 |
| Macular Degeneration |
Associate
|
23455636 |
| Mandibular Injuries |
Associate
|
32604397 |
| Neoplasm Metastasis |
Associate
|
23690187, 31010360 |
| Neoplasm Metastasis |
Inhibit
|
29186710 |
| Neoplasms |
Inhibit
|
23690187, 24833086, 29186710, 29193730, 32516127, 34923953, 36535531 |
| Neoplasms |
Associate
|
27941916, 33960436, 36449154, 39940703 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
31182759 |
| Obesity |
Associate
|
18567820 |
| Oral Submucous Fibrosis |
Inhibit
|
33345447 |
| Osteoarthritis |
Inhibit
|
14730609, 30655094 |
| Polycystic Ovary Syndrome |
Associate
|
24279306 |
| Prostatic Neoplasms |
Associate
|
31682594, 34565027, 39341147 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
36291689 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
30970517 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit
|
33345447 |
| Stomach Neoplasms |
Associate
|
30089248, 37300839 |
| Stomach Neoplasms |
Inhibit
|
32516127 |
| Thymoma |
Associate
|
34219124 |
| Urinary Bladder Neoplasms |
Associate
|
30170380, 31020952, 32277695, 33169791, 34112144, 39726319 |
| Uterine Diseases |
Associate
|
31010360 |
|