|
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 |
| Chronic Obstructive Pulmonary Disease |
Pulmonary disease, chronic obstructive, susceptibility to |
N/A |
N/A |
ClinVar |
| Colorectal Cancer |
Familial colorectal cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), High blood pressure / hypertension, Hypertension |
N/A |
N/A |
GWAS |
| Obsessive-Compulsive Disorder |
Obsessive-compulsive disorder |
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 |
| Acute Coronary Syndrome |
Associate
|
37952358 |
| Arrhythmias Cardiac |
Associate
|
21617318, 22664639, 37102236, 38138160 |
| Atherosclerosis |
Associate
|
24371822 |
| Atrial Fibrillation |
Associate
|
20625396, 22192668, 22499333, 24159564, 24332148, 24982877, 34270905 |
| Bipolar Disorder |
Associate
|
29230810 |
| Body Weight |
Associate
|
29587766 |
| Breast Neoplasms |
Associate
|
33234738, 34930307, 35113855 |
| Cachexia |
Stimulate
|
20426789 |
| Carcinoma Pancreatic Ductal |
Associate
|
22797009 |
| Cardiomyopathies |
Associate
|
21617318, 37102236 |
| Cardiomyopathies |
Inhibit
|
22685168 |
| Cardiomyopathy Dilated |
Associate
|
12197595, 1327038, 18776959, 21617318, 22664639, 30468641, 8593450 |
| Cardiomyopathy Dilated |
Inhibit
|
22685168 |
| Cardiovascular Abnormalities |
Associate
|
16728691 |
| Cardiovascular Diseases |
Associate
|
22664639, 24371822, 24982877, 27645110 |
| Central Nervous System Vascular Malformations |
Associate
|
34590496 |
| Cerebral Infarction |
Associate
|
28351962 |
| Cerebral Small Vessel Diseases |
Associate
|
39826584 |
| Cholelithiasis |
Associate
|
24556804 |
| Death |
Associate
|
18615004, 18947427, 22664639, 23115322, 26879662, 32491001 |
| Death Sudden |
Associate
|
12197595, 27027728 |
| Death Sudden Cardiac |
Associate
|
18534365 |
| Delayed Emergence from Anesthesia |
Associate
|
34713976 |
| Diabetes Gestational |
Associate
|
21806475 |
| Diabetes Mellitus |
Associate
|
20731869, 24972470 |
| Diabetes Mellitus Type 2 |
Associate
|
18239290, 24972470 |
| Down Syndrome |
Associate
|
27293319 |
| Ectrodactyly cardiopathy dysmorphism |
Inhibit
|
22685168 |
| Essential Hypertension |
Associate
|
15237695, 29549925 |
| Glaucoma |
Associate
|
36450729 |
| Glaucoma Open Angle |
Associate
|
16785856 |
| Heart Diseases |
Associate
|
16728691, 27884156, 37102236, 38138160, 8522688 |
| Heart Failure |
Associate
|
12034720, 12197595, 12374873, 12921807, 15237695, 17200711, 1811054, 18615004, 18947427, 19628119, 20521014, 21395649, 22664639, 23115322, 24151242, 26879662, 27027728, 27645110, 30354340, 30756358, 30978507, 31042551, 32491001, 34270905, 34642472, 37952358 View all (11 more) |
| Heart Failure |
Inhibit
|
8522688 |
| Heart Failure Systolic |
Associate
|
22499333, 25638254 |
| Hemangioma |
Associate
|
34590496 |
| Hemangioma capillary infantile |
Associate
|
34590496 |
| Hemangiosarcoma |
Associate
|
27211551 |
| Hemorrhagic Stroke |
Associate
|
24823730 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
35113855 |
| Hyperaldosteronism |
Associate
|
30753253 |
| Hypertension |
Associate
|
15055253, 15237695, 18615004, 20044737, 21806475, 24552127, 25823457, 27645110, 29549925, 30753253, 36897672, 37952358 |
| Hypertension |
Stimulate
|
20216086 |
| Hypertension Pregnancy Induced |
Associate
|
21806475 |
| Hypertension Pulmonary |
Associate
|
18187665 |
| Hypertrophy |
Associate
|
20731869 |
| Hypertrophy Left Ventricular |
Associate
|
20731869, 24982877 |
| Hypoplastic Left Heart Syndrome |
Associate
|
24793904, 28734628 |
| Hypotension |
Associate
|
37952358 |
| Hypotension Orthostatic |
Associate
|
24552127 |
| Insulin Resistance |
Associate
|
18239290 |
| Liver Cirrhosis |
Associate
|
35983976 |
| Low Tension Glaucoma |
Associate
|
16785856 |
| Lung Neoplasms |
Associate
|
35113855, 38066059 |
| Lymphatic Diseases |
Associate
|
34590496 |
| Marfan Syndrome |
Associate
|
32586526 |
| Melanoma |
Associate
|
18996182, 23318885 |
| Metabolic Syndrome |
Associate
|
24972470 |
| Mitral Valve Prolapse |
Associate
|
24670922 |
| Multiple Myeloma |
Associate
|
17981009 |
| Muscular Dystrophy Duchenne |
Inhibit
|
33619882 |
| Myocardial Infarction |
Associate
|
18331634, 19623647, 20731869, 37102236 |
| Myocardial Stunning |
Associate
|
8593450 |
| Neoplasms |
Associate
|
20426789, 22797009, 23318885, 26694722, 33234738, 33593484, 34590496, 34930307, 35113855 |
| Nephrosclerosis |
Associate
|
19745105 |
| Neurologic Manifestations |
Associate
|
28351962 |
| Nevus Pigmented |
Associate
|
23318885 |
| Obesity |
Associate
|
18239290, 29587766, 32398726 |
| Orthostatic Hypotensive Disorder Streeten Type |
Associate
|
21807569 |
| Osteoporosis |
Associate
|
30569177 |
| Overweight |
Associate
|
18239290, 32398726 |
| Pain |
Associate
|
40331998 |
| Pain Postoperative |
Associate
|
26694722, 40331998 |
| Pancreatic Neoplasms |
Associate
|
20037603, 22797009 |
| Prostatic Neoplasms |
Associate
|
33593484, 35113855 |
| Prostatitis |
Associate
|
35113855 |
| Pulmonary Arterial Hypertension |
Associate
|
29027816 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
30355907 |
| Shock |
Associate
|
27027728 |
| Sleep Wake Disorders |
Associate
|
36137075 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
21187140 |
| ST Elevation Myocardial Infarction |
Associate
|
36926933 |
| Stroke |
Inhibit
|
39826584 |
| Subarachnoid Hemorrhage |
Associate
|
16728691 |
| Syncope Vasovagal |
Associate
|
36140820 |
| Tachycardia Ectopic Junctional |
Associate
|
34713976 |
| Tachycardia Ventricular |
Associate
|
12197595, 37102236 |
| Takotsubo Cardiomyopathy |
Associate
|
23794609, 28818208, 29514624, 34716504 |
| Thyroid Adenoma Hyperfunctioning |
Associate
|
24982877 |
| Uterine Cervicitis |
Associate
|
29197114 |
| Vascular Malformations |
Associate
|
34590496 |
| Ventricular Fibrillation |
Associate
|
20731869, 36926933 |
| Ventricular Premature Complexes |
Associate
|
37102236 |
| Wounds and Injuries |
Associate
|
29230810 |
|