|
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 |
| Epileptic encephalopathy |
developmental and epileptic encephalopathy 116 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenoma Liver Cell |
Associate
|
23807780, 24743216, 26961851, 27469330 |
| AIDS Associated Nephropathy |
Associate
|
31805958 |
| Alzheimer Disease |
Associate
|
26455863 |
| Angina Pectoris |
Associate
|
26395743 |
| Angiomyolipoma |
Associate
|
29512829 |
| Astrocytoma |
Associate
|
21682567 |
| Atherosclerosis |
Associate
|
35667160 |
| Autistic Disorder |
Associate
|
29356297 |
| Autoimmune Diseases |
Associate
|
36073000 |
| Barrett Esophagus |
Associate
|
33491460 |
| Brain Diseases |
Associate
|
18062818, 23384343 |
| Breast Neoplasms |
Associate
|
36619229, 39795937 |
| Carcinoma Hepatocellular |
Associate
|
11461082, 17275129, 18282277, 19101982, 22766792, 26107238, 27469330, 28662289, 29303508, 29512829, 29569872, 30176945, 31067445, 35187863, 37249521 |
| Carcinoma Renal Cell |
Associate
|
37531433 |
| Cardiovascular Diseases |
Associate
|
26395743 |
| Carotid Stenosis |
Associate
|
21607540, 35667160 |
| Central Nervous System Vascular Malformations |
Associate
|
16267323, 26836257 |
| Cerebral Palsy |
Associate
|
15571623 |
| Chemical and Drug Induced Liver Injury |
Associate
|
26107238 |
| Cognition Disorders |
Associate
|
26455863 |
| Coronary Disease |
Associate
|
25677913, 29304826, 32651240 |
| Death |
Associate
|
25677913 |
| Dental Caries |
Associate
|
20802180 |
| Dental Plaque |
Associate
|
35667160 |
| Depressive Disorder Major |
Associate
|
20386568 |
| Developmental Disabilities |
Associate
|
39985170 |
| Diabetes Mellitus |
Associate
|
7913951 |
| Diabetes Mellitus Type 1 |
Associate
|
1370298, 21412422, 26631888, 29791073, 32882033, 36073000, 7913951, 8325989, 8423231 |
| Diabetes Mellitus Type 2 |
Associate
|
25677913, 26395743, 34085602 |
| Diabetic Retinopathy |
Associate
|
21412422 |
| Disease |
Associate
|
39985170 |
| Embryo Loss |
Associate
|
32888207 |
| Epilepsy |
Associate
|
23410662 |
| Epilepsy Temporal Lobe |
Associate
|
23384343 |
| Epileptic Encephalopathy Early Infantile 3 |
Associate
|
39985170 |
| Epiretinal Membrane |
Associate
|
16361676 |
| Fatty Liver Alcoholic |
Associate
|
39350187 |
| Fibrosis |
Inhibit
|
20583283 |
| Fibrosis |
Associate
|
31391527 |
| Fibrosis |
Stimulate
|
38250160 |
| Focal Nodular Hyperplasia |
Associate
|
23807780 |
| Gastritis |
Associate
|
21829393 |
| Glioblastoma |
Associate
|
23410662, 26047211 |
| Glioma |
Associate
|
32782394 |
| Glutamine deficiency congenital |
Associate
|
16267323, 26836257, 32888207, 39985170 |
| Heart Failure |
Associate
|
36254001 |
| Hepatic Encephalopathy |
Inhibit
|
20583283 |
| Hepatic Veno Occlusive Disease |
Associate
|
28061766 |
| Hepatoblastoma |
Associate
|
28277286, 34235580 |
| HIV Infections |
Associate
|
16687472 |
| Hyperammonemia |
Associate
|
26599579, 32888207 |
| Inflammation |
Associate
|
23807780, 36587392, 36619229 |
| Irritable Bowel Syndrome |
Inhibit
|
19951903 |
| Latent Autoimmune Diabetes in Adults |
Associate
|
39337639 |
| Leukemia |
Associate
|
25697355, 33882633 |
| Liver Diseases |
Associate
|
39868884 |
| Mental Disorders |
Associate
|
23272063 |
| Movement Disorders |
Associate
|
15571623 |
| Multiple Organ Failure |
Associate
|
32888207 |
| Myocardial Infarction |
Associate
|
26395743, 33354250 |
| Neoplasm Metastasis |
Associate
|
28061766, 29671787 |
| Neoplasms |
Associate
|
21852960, 23410662, 24743216, 26107238, 27469330, 29512829, 29642388, 32782394, 33882633, 34575972, 34583995, 36587392, 36619229, 37249521, 37531433, 38065270 View all (1 more) |
| Nerve Degeneration |
Associate
|
26455863 |
| Neurologic Manifestations |
Associate
|
26836257 |
| Obesity |
Associate
|
34085602 |
| Oligodendroglioma |
Associate
|
21682567, 29642388 |
| Ovarian Neoplasms |
Associate
|
34260142 |
| Perinatal Death |
Associate
|
16267323, 26836257 |
| Progressive Encephalomyelitis with Rigidity |
Associate
|
39213470 |
| Prostatic Neoplasms |
Associate
|
25431095 |
| Seizures |
Associate
|
32888207, 39985170 |
| Small Cell Lung Carcinoma |
Associate
|
26631888 |
| Status Epilepticus |
Associate
|
37410995 |
| Stiff Person Syndrome |
Associate
|
15571623, 39213470 |
| Stomach Neoplasms |
Associate
|
37612301 |
| Stroke |
Associate
|
21607540, 26395743, 35667160 |
|