|
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 |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes Mellitus |
Type 2 diabetes mellitus, Diabetes mellitus type 2, susceptibility to |
N/A |
N/A |
ClinVar |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| 3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency |
Inhibit
|
17173698 |
| 3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency |
Associate
|
22955918, 9392428, 9463337 |
| Abortion Spontaneous |
Associate
|
29270100 |
| Altitude Sickness |
Associate
|
29625625 |
| Alzheimer Disease |
Associate
|
23181436 |
| Arthropathy progressive pseudorheumatoid of childhood |
Associate
|
10681408 |
| Atherosclerosis |
Associate
|
10681408, 12354428, 15656877, 15961789, 16164573, 23181436, 23991054 |
| Brain Ischemia |
Associate
|
12354428 |
| Carcinogenesis |
Associate
|
22294764 |
| Carcinoma Hepatocellular |
Stimulate
|
2542313 |
| Carcinoma Hepatocellular |
Associate
|
30600300, 36274132 |
| Carcinoma Non Small Cell Lung |
Associate
|
23343765 |
| Cardiomyopathy Restrictive |
Associate
|
12621166 |
| Cardiovascular Diseases |
Associate
|
19691831, 31077211 |
| Carotid Stenosis |
Associate
|
12354428 |
| Colorectal Neoplasms |
Associate
|
22294764 |
| Conversion Disorder |
Associate
|
35388043 |
| Corneal Neovascularization |
Associate
|
22247473 |
| Coronary Artery Disease |
Associate
|
10681408, 12364543, 12417924, 12883629, 12964943, 17175070, 21548985, 23874450, 24504152, 29310573, 33004870 |
| Coronary Disease |
Associate
|
10946018, 20855565, 21960661, 30371334 |
| Death |
Associate
|
29270100 |
| Diabetes Mellitus Type 2 |
Associate
|
12547874, 15656877, 22073289 |
| Diabetic Nephropathies |
Associate
|
23879411 |
| Dyslipidemias |
Associate
|
16343038, 25117371, 28315561, 39518997 |
| Encephalitis Japanese |
Associate
|
14657196 |
| Glucose Intolerance |
Associate
|
15656877 |
| Glycogen Storage Disease Type II |
Associate
|
32979492 |
| Guillain Barre Syndrome |
Associate
|
35388043 |
| Hearing Loss |
Associate
|
34230634, 34758154 |
| Hearing Loss Sensorineural |
Associate
|
27583405 |
| Heart Diseases |
Associate
|
16164573 |
| Hemochromatosis |
Associate
|
29270100 |
| Hemorrhagic Fever American |
Associate
|
14657196 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
22955918 |
| HIV Infections |
Associate
|
12837664 |
| Hypercholesterolemia |
Associate
|
19695855 |
| Hyperlipidemia Familial Combined |
Associate
|
10681408 |
| Hyperlipidemias |
Associate
|
23991054 |
| Hyperlipoproteinemia Type I |
Associate
|
8301230 |
| Hyperlipoproteinemia Type II |
Associate
|
24504152, 36648309 |
| Hypertension |
Associate
|
25117371, 25587205 |
| Hypertension Pregnancy Induced |
Associate
|
25117371 |
| Hypothyroidism |
Inhibit
|
8354961 |
| Hypoxia |
Associate
|
29625625 |
| Inflammation |
Associate
|
11988625, 12354428, 37461045 |
| Insulin Resistance |
Associate
|
10428983 |
| Long QT Syndrome |
Associate
|
29270100 |
| Macular Degeneration |
Associate
|
20385826, 20888482, 21139980, 21447678, 21906714, 22694956, 23348725, 24608419, 26854823, 27099955, 28456421, 32553749, 34061866, 35027571, 36055244 |
| Macular Degeneration |
Inhibit
|
24223199 |
| Metabolic Syndrome |
Associate
|
19695855, 34503513, 34801968 |
| Metabolism Inborn Errors |
Associate
|
8808756 |
| Myocardial Infarction |
Associate
|
19695855 |
| Myocardial Ischemia |
Associate
|
12798568 |
| Neoplasms Adipose Tissue |
Associate
|
31077211 |
| Neurodegenerative Diseases |
Associate
|
23181436 |
| Obesity |
Associate
|
14657196, 15941898, 23039238, 23109900, 25926410 |
| Overweight |
Associate
|
16316842, 23039238, 23109900, 25926410 |
| Pancreatitis |
Associate
|
8301230 |
| Peripheral Arterial Disease |
Associate
|
16164573 |
| Polypoidal Choroidal Vasculopathy |
Associate
|
26624898, 31877157 |
| Pre Eclampsia |
Associate
|
16316842, 25117371 |
| Pregnancy Complications |
Associate
|
25117371 |
| Pregnancy in Diabetics |
Associate
|
25117371 |
| Pressure Ulcer |
Associate
|
22606049 |
| Proteinuria |
Associate
|
31286991 |
| Proteinuria |
Stimulate
|
32280690 |
| Reticular dysgenesis |
Associate
|
32163116 |
| Retinal Drusen |
Inhibit
|
21447678 |
| Retinal Drusen |
Associate
|
22247473 |
| Stroke |
Associate
|
18622260 |
| Vascular Diseases |
Associate
|
14531818 |
| Weight Loss |
Associate
|
25926410 |
|