|
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 |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes (adjusted for BMI), Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes, Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2) |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension, Hypertension (confirmatory factor analysis Factor 12) |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease, Inflammatory bowel disease (MTAG) |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer (late onset), Prostate cancer |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Abortion Habitual |
Associate
|
30844144 |
| Breast Neoplasms |
Associate
|
22237986 |
| Colorectal Neoplasms |
Stimulate
|
21602532 |
| Colorectal Neoplasms |
Associate
|
21602532 |
| Diabetes Gestational |
Associate
|
36672824 |
| Diabetes Mellitus |
Associate
|
19833888, 21296741, 21602532, 23851660, 27554474 |
| Diabetes Mellitus Type 2 |
Associate
|
18567820, 18714373, 19833888, 19862325, 21296741, 21602532, 22389004, 23028138, 24929251, 26290879, 27554474, 30728419 |
| Hyperandrogenism |
Associate
|
33779462 |
| Insulin Resistance |
Associate
|
32425888 |
| Metabolic Syndrome |
Associate
|
32425888 |
| Neoplasms |
Associate
|
25209362, 26773531 |
| Obesity |
Associate
|
18567820, 25060389 |
| Overweight |
Associate
|
23349771 |
| Polycystic Ovary Syndrome |
Associate
|
22180642, 22389004, 22547425, 25303487, 25904635, 25978310, 26416764, 28068351, 30844144, 32425888, 37223019 |
| Prostatic Neoplasms |
Associate
|
26537068, 26773531, 33115829 |
| Thyroid Neoplasms |
Associate
|
36672824 |
| Weight Gain |
Associate
|
20816152 |
|