|
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 specific mortality in estrogen receptor positive breast cancer |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
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 Spontaneous |
Associate
|
35013837 |
| Acute Coronary Syndrome |
Stimulate
|
11586954 |
| Acute Coronary Syndrome |
Associate
|
22997483, 28381225 |
| Alzheimer Disease |
Associate
|
33931404 |
| Anemia Sickle Cell |
Associate
|
6587344 |
| Aneuploidy |
Associate
|
23289277, 24177714 |
| Angina Unstable |
Stimulate
|
11586954 |
| Arthritis Rheumatoid |
Associate
|
37868981 |
| Arthropathy progressive pseudorheumatoid of childhood |
Associate
|
10441570 |
| Ascites |
Associate
|
26336825 |
| Asthma |
Associate
|
38128411 |
| Atherosclerosis |
Associate
|
37778995 |
| Breast Neoplasms |
Associate
|
2465547, 25468445, 32792532 |
| Calcinosis |
Associate
|
26122709 |
| Carcinoma Hepatocellular |
Associate
|
26020769 |
| Carcinoma Renal Cell |
Inhibit
|
33788403 |
| Carotid Artery Diseases |
Associate
|
16750685, 26122709 |
| Carotid Stenosis |
Associate
|
26122709 |
| Cerebral Palsy |
Associate
|
33206412 |
| Cerebrovascular Disorders |
Associate
|
35620813 |
| Chromosome 21 ring |
Associate
|
35361402 |
| Chromosome Aberrations |
Associate
|
21793085 |
| Chromosome Aberrations |
Stimulate
|
31779618 |
| Chronic Disease |
Associate
|
34220309 |
| Chronic Periodontitis |
Associate
|
39211796 |
| COVID 19 |
Associate
|
35796937 |
| Dental Plaque |
Associate
|
11586954 |
| Diabetes Gestational |
Associate
|
19115230, 28655969 |
| Diabetes Gestational |
Inhibit
|
35980753 |
| Diabetes Mellitus |
Associate
|
32567559 |
| Diabetes Mellitus Type 1 |
Associate
|
21671890 |
| Diabetes Mellitus Type 2 |
Stimulate
|
28381225 |
| Diabetes Mellitus Type 2 |
Associate
|
32567559 |
| Down Syndrome |
Associate
|
23289277, 23891271, 24177714, 24411037, 29226487, 35361401, 35361402, 36720525, 37964244 |
| Down Syndrome |
Inhibit
|
25543334, 36277024 |
| Essential Hypertension |
Associate
|
26339405 |
| Fetal Growth Retardation |
Associate
|
19115230, 29532882 |
| Fibrosis |
Associate
|
35098542 |
| Gingivitis |
Associate
|
39211796 |
| Hepatitis B |
Associate
|
25468445 |
| Hyperplasia |
Associate
|
16338976 |
| Hypertension |
Associate
|
29216009 |
| Hypertension Pregnancy Induced |
Associate
|
19115230, 29587776, 33660787 |
| Hypoglycemia |
Associate
|
33931404 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
35098542 |
| Inflammation |
Stimulate
|
17936662 |
| Inflammation |
Associate
|
28655969, 32746916, 35796937, 39911041 |
| Myocardial Infarction |
Stimulate
|
11586954 |
| Neoplasms |
Associate
|
12571229, 25468445, 32792532, 34350538 |
| Neoplasms |
Inhibit
|
33788403 |
| Nervous System Diseases |
Associate
|
35620813 |
| Neurologic Manifestations |
Associate
|
35620813 |
| Ovarian Neoplasms |
Associate
|
26336825 |
| Paroxysmal ventricular fibrillation |
Inhibit
|
23891271 |
| Periodontitis |
Associate
|
39211796 |
| Placenta Accreta |
Associate
|
38255950 |
| Placenta Diseases |
Associate
|
34220309 |
| Plaque Atherosclerotic |
Associate
|
11586954, 16338976 |
| Plaque Atherosclerotic |
Stimulate
|
17936662 |
| Polycystic Ovary Syndrome |
Stimulate
|
20528206 |
| Pre Eclampsia |
Stimulate
|
28232601 |
| Pre Eclampsia |
Inhibit
|
32432770, 32621353 |
| Pre Eclampsia |
Associate
|
35013837, 35260099 |
| Pregnancy Complications |
Associate
|
31779618 |
| Premature Birth |
Associate
|
17992705 |
| Premature Birth |
Inhibit
|
19115230, 33206412 |
| Pulmonary Embolism |
Associate
|
32746916 |
| Pulmonary Fibrosis |
Associate
|
35098542 |
| Renal Insufficiency |
Associate
|
22126420 |
| Soft Tissue Injuries |
Associate
|
32746916 |
| Stillbirth |
Associate
|
35013837 |
| Thyroid Neoplasms |
Stimulate
|
34350538 |
| Thyroid Neoplasms |
Associate
|
35563038 |
| Thyroid Nodule |
Associate
|
35563038 |
| Tooth Erosion |
Inhibit
|
37868981 |
| Trisomy |
Associate
|
32621353 |
| Trisomy 13 Syndrome |
Inhibit
|
25543334 |
| Trisomy 13 Syndrome |
Associate
|
32621353 |
| Trisomy 18 Syndrome |
Associate
|
18726925, 25543334, 33447994 |
| Urinary Tract Infections |
Associate
|
30391630 |
| Vascular System Injuries |
Stimulate
|
16338976 |
| Vitamin D Deficiency |
Inhibit
|
33030742 |
|