|
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 |
| 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, 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 |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Dermatitis |
Atopic dermatitis |
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 |
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 |
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 |
| Acute Coronary Syndrome |
Associate
|
23555103 |
| Adenocarcinoma |
Associate
|
35560527 |
| Adenoma |
Associate
|
30175151 |
| Adenoma Islet Cell |
Associate
|
24240437 |
| Aortic Aneurysm Abdominal |
Associate
|
31817859 |
| Aortic Valve Stenosis |
Associate
|
31817859, 32186652 |
| Arthritis Rheumatoid |
Associate
|
29193869 |
| Asthma |
Associate
|
37221513 |
| Autism Spectrum Disorder |
Associate
|
30180836 |
| Bipolar Disorder |
Associate
|
28115744, 30531795 |
| Breast Neoplasms |
Associate
|
29587668, 31511352, 37122728 |
| Carcinogenesis |
Associate
|
26163647 |
| Carcinoma Squamous Cell |
Associate
|
39738606 |
| Cardiovascular Diseases |
Associate
|
31817859 |
| Cerebral Infarction |
Associate
|
26261632, 31817859, 35796550, 36193932 |
| Colorectal Neoplasms |
Associate
|
27101738, 40430008 |
| Coronary Artery Disease |
Associate
|
22664640, 25849351, 26153245, 26261632, 27004414, 31817859, 32731631 |
| Coronary Disease |
Associate
|
21347282 |
| Depressive Disorder |
Associate
|
34021117 |
| Dermatitis Atopic |
Associate
|
24167612 |
| Diabetes Mellitus |
Associate
|
20980488, 27406814, 28729637, 28744461 |
| Diabetes Mellitus Type 2 |
Associate
|
20980488, 21421807, 27004414, 28555039, 28729637, 30535058, 32731631, 33788629, 39528535 |
| Dyslipidemias |
Associate
|
19060906, 23396965, 26879377 |
| Eczema |
Associate
|
20948998 |
| Embolism Fat |
Associate
|
30120404 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
26163647 |
| Fatty Liver |
Associate
|
30120404 |
| Fibrosis |
Associate
|
30120404 |
| Glioblastoma |
Associate
|
32392704 |
| Hyperglycemia |
Associate
|
20185807, 21421807 |
| Hyperinsulinism |
Associate
|
20185807 |
| Hypertension |
Associate
|
23555103, 28732058 |
| Infarction Anterior Cerebral Artery |
Inhibit
|
31817859 |
| Infarction Anterior Cerebral Artery |
Associate
|
31817859 |
| Inflammation |
Associate
|
26609056, 30624587, 33595419, 35701670, 37461045 |
| Insulin Resistance |
Associate
|
16908951, 26087292 |
| Insulin Resistance |
Stimulate
|
22344199 |
| Leprosy |
Associate
|
38273053 |
| Lymphatic Metastasis |
Inhibit
|
37122728 |
| Metabolic Diseases |
Associate
|
39218219 |
| Metabolic Syndrome |
Associate
|
31340443, 35701670, 38394918 |
| Necrosis |
Associate
|
32392704 |
| Neoplasms |
Associate
|
22140540, 27101738, 27368132, 28157665, 29587668, 30175151, 32392704, 33199044 |
| Neoplasms Adipose Tissue |
Associate
|
30224430 |
| Non alcoholic Fatty Liver Disease |
Associate
|
30120404 |
| Obesity |
Associate
|
26153245, 26609056, 28598979, 32584610, 35701670, 39457458 |
| Obesity Abdominal |
Associate
|
28125662, 36997497 |
| Overweight |
Associate
|
32584610 |
| Pancreatic Neoplasms |
Associate
|
27368132 |
| Peripheral Arterial Disease |
Associate
|
35796550 |
| Pneumonia Lipid |
Associate
|
36652541 |
| Polycystic Ovary Syndrome |
Associate
|
22344199, 26879377 |
| Psoriasis |
Associate
|
38273053 |
| Stomach Neoplasms |
Associate
|
16367923, 33288688 |
| Stroke |
Inhibit
|
36193932 |
| Stroke |
Associate
|
36193932 |
| Telomeric 22q13 Monosomy Syndrome |
Associate
|
31648709 |
| Vascular System Injuries |
Associate
|
18842780 |
| Venous Thromboembolism |
Associate
|
31817859, 35796550 |
| Vitiligo |
Inhibit
|
31866583 |
| Weight Loss |
Associate
|
17823443, 26609056 |
|