|
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 |
| Acne |
acne vulgaris |
N/A |
N/A |
GWAS |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Aortic Valve Sclerosis |
Aortic valve stenosis |
N/A |
N/A |
GWAS |
| Asthma |
Asthma (adult onset), Asthma, Nonatopic asthma, Asthma in any disease |
N/A |
N/A |
GWAS |
| Bipolar Disorder |
Bipolar disorder, Bipolar I disorder |
N/A |
N/A |
GWAS |
| Cholelithiasis |
Cholelithiasis |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Laryngeal Carcinoma |
Laryngeal squamous cell carcinoma |
N/A |
N/A |
GWAS |
| Lung adenocarcinoma |
Lung adenocarcinoma |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Serum omega-6 to omega-3 polyunsaturated fatty acid ratio in metabolic syndrome, Serum docosahexaenoic fatty acid concentration in metabolic syndrome, Serum omega-3 polyunsaturated fatty acid concentration in metabolic syndrome, Metabolic syndrome |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
| Vitiligo |
Vitiligo |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
35560527 |
| Adenoma Islet Cell |
Associate
|
24240437 |
| Aortic Valve Stenosis |
Associate
|
32186652 |
| Arthritis Rheumatoid |
Associate
|
29193869 |
| Asthma |
Associate
|
24934276 |
| Autism Spectrum Disorder |
Associate
|
30180836 |
| Autism Spectrum Disorder |
Inhibit
|
30180836 |
| Bipolar Disorder |
Associate
|
20615514, 28115744, 30531795 |
| Breast Neoplasms |
Associate
|
26656090, 37122728 |
| Carcinoma Basal Cell |
Associate
|
36496446 |
| Carcinoma Renal Cell |
Associate
|
33221754 |
| Carcinoma Squamous Cell |
Associate
|
36496446 |
| Cardio Renal Syndrome |
Associate
|
35773659 |
| Cardiovascular Diseases |
Associate
|
28253292, 35796550 |
| Cerebral Infarction |
Associate
|
26261632, 35796550, 36193932 |
| Chronic Disease |
Associate
|
29746616 |
| Cleft Lip |
Associate
|
36008388 |
| Cognitive Dysfunction |
Associate
|
27273350 |
| Colorectal Neoplasms |
Associate
|
28506205, 32486849, 35779418, 36696241, 40430008 |
| Coronary Artery Disease |
Associate
|
18842780, 23383292, 26261632, 27004414 |
| Coronary Artery Disease |
Stimulate
|
32731631 |
| Coronary Disease |
Associate
|
21347282 |
| COVID 19 |
Associate
|
33530084 |
| Crohn Disease |
Associate
|
31956234 |
| Dermatitis Atopic |
Associate
|
24167612 |
| Diabetes Mellitus |
Associate
|
20980488, 24294133, 27322064, 27406814 |
| Diabetes Mellitus Type 2 |
Associate
|
27004414, 27322064, 28555039, 32731631, 34162950, 34394238, 36412559 |
| Diabetes Mellitus Type 2 |
Inhibit
|
29233142 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
26656090 |
| Dyslipidemias |
Associate
|
19060906, 26879377, 29746616 |
| Eczema |
Associate
|
20948998 |
| Endometriosis |
Associate
|
38012607 |
| Erectile Dysfunction |
Inhibit
|
29233142 |
| Glioblastoma |
Associate
|
32392704, 37158834 |
| Heart Failure |
Associate
|
31059043 |
| Hypertension |
Associate
|
27589269 |
| Inflammation |
Associate
|
26609056, 36430859, 37461045 |
| Inflammatory Bowel Diseases |
Associate
|
36430859 |
| Insulin Resistance |
Associate
|
26087292, 34394238, 36788508 |
| Kidney Diseases |
Associate
|
25329159 |
| Lymphatic Metastasis |
Stimulate
|
36696241 |
| Macular Degeneration |
Associate
|
24346170 |
| Metabolic Diseases |
Associate
|
28253292 |
| Metabolic Syndrome |
Associate
|
36496446, 38394918 |
| Multiple Sclerosis |
Inhibit
|
33063621 |
| Multiple Sclerosis |
Associate
|
33063621 |
| Myocardial Infarction |
Associate
|
17284757 |
| Necrosis |
Associate
|
32392704 |
| Neoplasm Metastasis |
Stimulate
|
36696241 |
| Neoplasms |
Associate
|
22140540, 32392704, 33567271 |
| Neoplasms |
Stimulate
|
36696241 |
| Non alcoholic Fatty Liver Disease |
Associate
|
30654845 |
| Obesity |
Associate
|
16908951, 24294133, 26609056, 27322064, 28598979, 30654845, 32584610, 33494132, 34611217, 35773659, 35779418, 36788508 |
| Obesity Abdominal |
Associate
|
28125662 |
| Orofacial Cleft 1 |
Associate
|
36008388 |
| Osteosarcoma |
Inhibit
|
40593006 |
| Overweight |
Associate
|
32584610, 33494132 |
| Pancreatic Neoplasms |
Associate
|
24294133 |
| Peripheral Arterial Disease |
Associate
|
35796550 |
| Pneumonia Lipid |
Associate
|
36652541 |
| Polycystic Ovary Syndrome |
Associate
|
26879377 |
| Pre Eclampsia |
Associate
|
22949531 |
| Status Asthmaticus |
Stimulate
|
24934276 |
| Stroke |
Inhibit
|
36193932 |
| Stroke |
Associate
|
36193932 |
| Urinary Bladder Neoplasms |
Associate
|
34418989 |
| Vascular System Injuries |
Associate
|
18842780 |
| Venous Thromboembolism |
Associate
|
35796550 |
| Ventricular Remodeling |
Associate
|
31532795 |
| Weight Loss |
Associate
|
17823443, 26609056 |
|