|
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 |
| Cirrhosis |
Cirrhosis |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Coronary Heart Disease |
Coronary heart disease |
N/A |
N/A |
GWAS |
| Diabetes |
Triglyceride levels in non-type 2 diabetes, Type 2 diabetes |
N/A |
N/A |
GWAS |
| Hyperlipidemia |
Familial combined hyperlipidemia defined by Goldstein criteria, Familial combined hyperlipidemia defined by Brunzell criteria |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acne Vulgaris |
Associate
|
29636060 |
| Adenocarcinoma |
Stimulate
|
22247499 |
| Adrenocortical Carcinoma |
Associate
|
40109215 |
| Alzheimer Disease |
Associate
|
19442637, 20298972, 26421299, 26621834, 27805002, 28641921, 29107063, 29432188, 29739406, 29795290, 31346172, 31760383, 31915189, 32539856, 32896012, 32961112, 33090224, 33947463, 34625307, 35809216, 36399096, 37101235, 37386009 View all (8 more) |
| Alzheimer Disease |
Stimulate
|
33372590 |
| Atherosclerosis |
Associate
|
15808756 |
| Atrophy |
Associate
|
31760383 |
| Blood Coagulation Disorders |
Associate
|
36136292 |
| Breast Neoplasms |
Associate
|
20237941, 21871081, 37268731 |
| Carcinogenesis |
Associate
|
36969562 |
| Carcinoma Non Small Cell Lung |
Inhibit
|
19925029 |
| Carcinoma Renal Cell |
Stimulate
|
33305507 |
| Carcinoma Renal Cell |
Associate
|
33591959 |
| Cardiovascular Diseases |
Associate
|
19252179, 32231389 |
| Cerebral Hemorrhage |
Associate
|
39298701 |
| Cholangiocarcinoma |
Associate
|
40064358 |
| Chronobiology Disorders |
Associate
|
22022282 |
| Cognition Disorders |
Associate
|
31201950, 31760383 |
| Colorectal Neoplasms |
Associate
|
27992526, 32023884, 34081622 |
| Corneal Endothelial Cell Loss |
Associate
|
36136292 |
| Coronary Artery Disease |
Associate
|
19252179, 20307520, 21187063, 23050023, 27350024, 29390587, 31870308, 37686357 |
| Coronary Disease |
Associate
|
15808756, 19494537, 24859250, 27707806 |
| Coronary Disease |
Stimulate
|
36691918 |
| COVID 19 |
Associate
|
34232570 |
| Dementia |
Associate
|
29739406 |
| Diabetes Mellitus |
Stimulate
|
37686357 |
| Diabetes Mellitus Type 1 |
Associate
|
37537394 |
| Diabetes Mellitus Type 2 |
Associate
|
36658456 |
| Diabetic Nephropathies |
Associate
|
19336575, 23555584, 39511608 |
| Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
35729600 |
| Dysmenorrhea |
Associate
|
36136292 |
| Endocrine System Diseases |
Associate
|
29636060 |
| Endometrial Neoplasms |
Associate
|
19756734 |
| Esophageal Neoplasms |
Associate
|
36969562 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
36709495, 36969562, 38172247 |
| Glioblastoma |
Associate
|
31006040, 36216850 |
| Glomerulonephritis Membranous |
Associate
|
37511514 |
| Hyperaldosteronism |
Associate
|
34690553 |
| Hyperlipoproteinemia Type V |
Associate
|
10064743 |
| Hypertriglyceridemia |
Stimulate
|
35568684 |
| Hypertriglyceridemia |
Associate
|
39662927 |
| Hypoalphalipoproteinemias |
Stimulate
|
26667175 |
| Inflammation |
Associate
|
29636060, 30945673, 32023884, 36969562 |
| Kidney Diseases |
Associate
|
32174066 |
| Lewy Body Disease |
Associate
|
35729600 |
| Liver Cirrhosis |
Associate
|
17171788 |
| Lymphatic Metastasis |
Stimulate
|
37310025 |
| Mesothelioma Malignant |
Associate
|
19754208, 24361865 |
| Metabolic Diseases |
Associate
|
29636060 |
| Metabolic Syndrome |
Associate
|
19252179, 22022282, 33163038, 36011277, 38201907 |
| Multiple Sclerosis |
Stimulate
|
33603109 |
| Neoplasm Metastasis |
Stimulate
|
32665038, 34081622 |
| Neoplasm Metastasis |
Associate
|
33591959 |
| Neoplasms |
Associate
|
33591959, 34498424, 34857818, 36709495, 36969562, 37305389, 38172247, 40109215 |
| Nephrotic Syndrome |
Stimulate
|
37511514 |
| Neurodegenerative Diseases |
Associate
|
32539856 |
| Obesity |
Associate
|
19812053, 33163038 |
| Osteoarthritis |
Associate
|
39258983 |
| Pancreatic Neoplasms |
Associate
|
20588270 |
| Peripheral Nervous System Diseases |
Associate
|
21622202 |
| Pneumonia Lipid |
Associate
|
25005712 |
| Polycystic Ovary Syndrome |
Associate
|
29636060 |
| Retinal Telangiectasis |
Stimulate
|
27416065 |
| Stomach Neoplasms |
Associate
|
21267442, 21931799 |
| Stomach Neoplasms |
Stimulate
|
37305389 |
| Thyroid Cancer Papillary |
Associate
|
19785722 |
| Thyroid Neoplasms |
Associate
|
40157360 |
| Uterine Cervical Neoplasms |
Associate
|
34498424, 36536343, 39346086 |
|