|
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 |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401), Essential hypertension (PheCode 401.1) |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Breast Neoplasms |
Associate
|
16563182, 19089925, 19765277, 19825179, 23771732, 32193333, 33296812, 33753200 |
| Carcinoma Non Small Cell Lung |
Associate
|
25352027 |
| Coronary Artery Disease |
Associate
|
30146127 |
| Disease |
Associate
|
19906411 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
19765277 |
| Leukemia Myeloid Acute |
Associate
|
34894858 |
| Lymphatic Metastasis |
Associate
|
19765277, 19906411, 23771732 |
| Mammary Neoplasms Animal |
Associate
|
19765277 |
| Neoplasm Metastasis |
Associate
|
16563182, 19089925, 19765277, 19825179, 19906411, 23771732, 25277657, 25352027, 28362978, 33296812, 37500797 |
| Neoplasms |
Associate
|
16563182, 23771732, 25352027, 32193333, 33753200 |
| Neoplasms |
Inhibit
|
25277657, 28362978 |
| Pancreatic Neoplasms |
Associate
|
34134622 |
| Personality Disorders |
Associate
|
16563182 |
| Progesterone Resistance |
Associate
|
16563182 |
| Stomach Neoplasms |
Associate
|
28362978 |
| Tertiary Lymphoid Structures |
Associate
|
16563182 |
| Triple Negative Breast Neoplasms |
Associate
|
37500797 |
| Uterine Cervical Neoplasms |
Associate
|
19906411 |
|