|
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 |
| Dementia |
Dementia |
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 |
| Acute Coronary Syndrome |
Associate
|
34082767 |
| Adenocarcinoma in Situ |
Associate
|
31568004 |
| Adenocarcinoma of Lung |
Associate
|
20920480, 34996932, 35325730, 37335087 |
| Alzheimer Disease |
Associate
|
36928034, 37621137 |
| Antley Bixler Syndrome Phenotype |
Associate
|
35889519 |
| Atherosclerosis |
Associate
|
36754152 |
| Breast Neoplasms |
Associate
|
20584310, 23216744, 24278290, 29162888, 36335879 |
| Breast Neoplasms |
Stimulate
|
26760912, 31430859 |
| Carcinoma Hepatocellular |
Associate
|
28536696, 33188160, 36378050, 37181805, 38025761, 38097352, 38308689, 40465781 |
| Carcinoma Non Small Cell Lung |
Associate
|
23959471, 33812801 |
| Carcinoma Squamous Cell |
Associate
|
31568004 |
| CD59 Deficiency |
Associate
|
33280050 |
| Cognition Disorders |
Associate
|
31601260 |
| Cognitive Dysfunction |
Associate
|
31601260 |
| Colorectal Neoplasms |
Associate
|
20098717, 22615972, 31027226, 32596335 |
| Depressive Disorder Major |
Associate
|
36928034 |
| Diabetes Gestational |
Associate
|
35669396 |
| Diabetes Mellitus Type 2 |
Associate
|
18229449 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
20098717, 20920480 |
| Endometriosis |
Associate
|
32679649 |
| Epilepsy |
Associate
|
39849427 |
| Epilepsy Familial Mesial Temporal Lobe |
Inhibit
|
19499324 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
34999996, 35703190 |
| Familial Primary Pulmonary Hypertension |
Associate
|
34722766 |
| Glioblastoma |
Stimulate
|
28345125 |
| Glioblastoma |
Associate
|
36555352, 37834393 |
| Glomerulonephritis Membranous |
Associate
|
20920480 |
| Hearing Loss |
Associate
|
35322580 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
33931688 |
| Hypoxia |
Stimulate
|
26743692, 33493155 |
| Hypoxia Brain |
Inhibit
|
37892173 |
| Idiopathic Pulmonary Fibrosis |
Stimulate
|
20483575 |
| IgA Vasculitis |
Associate
|
33280050 |
| Inflammation |
Associate
|
31568004, 8999974 |
| Intervertebral Disc Degeneration |
Associate
|
36814575 |
| Kashin Beck Disease |
Associate
|
33455417 |
| Kidney Diseases |
Stimulate
|
18229449 |
| Lung Diseases |
Associate
|
20920480 |
| Lung Neoplasms |
Associate
|
20920480 |
| Lymphoma |
Associate
|
18422776 |
| Melanoma |
Inhibit
|
37892173 |
| Mitochondrial Diseases |
Associate
|
20920480, 36358916 |
| Multiple Myeloma |
Associate
|
25945832, 26743692 |
| Myocardial Infarction |
Associate
|
34799616 |
| Neoplasm Metastasis |
Associate
|
26760912, 36335879 |
| Neoplasms |
Associate
|
16175400, 20584310, 20920480, 22629368, 27093577, 28417283, 28536696, 30653260, 33706760, 38308689 |
| Neuroblastoma |
Associate
|
26464515 |
| Neurodegenerative Diseases |
Associate
|
37269647 |
| Nevus |
Associate
|
27920018 |
| Obesity |
Associate
|
21593104, 34684477 |
| Optic Atrophy Hereditary Leber |
Associate
|
36358916 |
| Osteoarthritis |
Associate
|
33455417 |
| Osteosarcoma |
Associate
|
31920141 |
| Ovarian Neoplasms |
Associate
|
29910195 |
| Periodic fever familial autosomal dominant |
Associate
|
31568004 |
| Pre Eclampsia |
Associate
|
36343018 |
| Prostatic Neoplasms |
Associate
|
23133653, 34125740 |
| Prurigo |
Associate
|
37245863 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
33493155, 35441963 |
| Smoke Inhalation Injury |
Associate
|
31568004 |
| Tinnitus |
Associate
|
35322580 |
| Tuberculosis Multidrug Resistant |
Associate
|
27706680 |
| Urinary Bladder Neoplasms |
Associate
|
16175400 |
|