|
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 |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes with ketoacidosis (PheCode 250.21) |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Hypertension |
Essential hypertension (PheCode 401.1), Resistant hypertension, High blood pressure / hypertension, Resistance to antihypertensive treatment in hypertension, Hypertension, Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401) |
N/A |
N/A |
GWAS |
| Ischemic Stroke |
Ischemic stroke |
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 |
| Adenocarcinoma of Lung |
Associate
|
33029490 |
| Carcinoma Hepatocellular |
Associate
|
34147074 |
| Carcinoma Renal Cell |
Associate
|
31481981 |
| Carcinoma Squamous Cell |
Inhibit
|
38458428 |
| Cardiomyopathy Dilated |
Associate
|
31268246, 36293425 |
| Cardiomyopathy Dilated with Left Ventricular Noncompaction |
Associate
|
31268246 |
| Cardiovascular Diseases |
Associate
|
34895303 |
| Chronic Disease |
Associate
|
31570750, 35218958 |
| Colorectal Neoplasms |
Associate
|
26474385 |
| Dermatitis Atopic |
Inhibit
|
38458428 |
| Developmental Disabilities |
Associate
|
33004838 |
| Heart Defects Congenital |
Associate
|
35737725 |
| Heart Murmurs |
Associate
|
34793544 |
| Heart Septal Defects Ventricular |
Associate
|
31268246 |
| Hypertension |
Associate
|
31545351, 34793544 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
25333685 |
| Inflammation |
Associate
|
33205602 |
| Lung Diseases Interstitial |
Associate
|
38575158 |
| Lung Neoplasms |
Associate
|
38575158 |
| Marfan Syndrome |
Associate
|
34895303 |
| Melanoma |
Associate
|
38077400 |
| Neoplasms |
Inhibit
|
21252912, 22928040, 23892435, 27270431, 31481981, 36243768 |
| Neoplasms |
Associate
|
36518628 |
| Neuroblastoma |
Inhibit
|
21252912, 27270431, 31481981, 36243768 |
| Neuroblastoma |
Associate
|
23892435 |
| Osteoarthritis |
Associate
|
33205602 |
| Pancreatic Neoplasms |
Associate
|
36518628 |
| Prostatic Neoplasms |
Associate
|
37686409 |
| Psoriasis |
Inhibit
|
38458428 |
| Skin Diseases |
Associate
|
38458428 |
| Stroke |
Associate
|
28682427 |
| Varicose Veins |
Associate
|
31570750, 34358671, 35218958, 40108671 |
| Vascular Diseases |
Associate
|
28693373 |
|