|
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 |
| Asthma |
Asthma |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Developmental And Epileptic Encephalopathy |
genetic developmental and epileptic encephalopathy |
N/A |
N/A |
GenCC |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Eosinophilia |
Eosinophilic esophagitis |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Psoriasis vulgaris |
Psoriasis vulgaris |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
28640357 |
| Alzheimer Disease |
Associate
|
24731980 |
| Anemia Aplastic |
Associate
|
25800665 |
| Arrhythmias Cardiac |
Associate
|
25815641, 25910598, 29410121, 36671453 |
| Arthritis Psoriatic |
Associate
|
20353560 |
| Astrocytoma |
Associate
|
12937144 |
| Ataxia Telangiectasia |
Associate
|
10403399 |
| Atherosclerosis |
Associate
|
28011257 |
| Atrial Fibrillation |
Associate
|
37523735 |
| Atrial Remodeling |
Associate
|
34196135, 37523735 |
| Brain Diseases |
Associate
|
37510258 |
| Breast Neoplasms |
Associate
|
27605043 |
| Carcinoma Hepatocellular |
Associate
|
28869833, 35724265 |
| Carcinoma Non Small Cell Lung |
Associate
|
35692887 |
| Cardiomyopathies |
Associate
|
37300940 |
| Cardiomyopathy Dilated |
Associate
|
37372357 |
| Cardiomyopathy Hypertrophic |
Associate
|
25910598, 27688314 |
| Cardiotoxicity |
Associate
|
35260914, 36111515 |
| Cognition Disorders |
Associate
|
34196135 |
| Colonic Neoplasms |
Associate
|
11274166, 28970726 |
| Colorectal Neoplasms |
Associate
|
19298255, 28692053, 28970726, 33761465 |
| Craniocerebral Trauma |
Inhibit
|
32483284 |
| Cyclic neutropenia |
Associate
|
25800665 |
| Dementia Vascular |
Associate
|
28011257 |
| Developmental Disabilities |
Associate
|
37372357 |
| Diabetes Mellitus Type 2 |
Associate
|
35767566 |
| Drug Resistant Epilepsy |
Associate
|
28388656 |
| Failed Back Surgery Syndrome |
Associate
|
20443916 |
| Fractures Spontaneous |
Associate
|
36111515 |
| GATA2 Deficiency |
Associate
|
32641029 |
| Glioblastoma |
Associate
|
12937144, 21649900, 30816530 |
| Glioma |
Associate
|
12496285, 20139089, 22049206, 23261316, 30816530, 31593589 |
| Glycogen Storage Disease Type IIb |
Associate
|
36671453 |
| Heart Diseases |
Associate
|
25910598 |
| Heart Failure |
Associate
|
25201344, 25815641, 25910598, 29410121, 35805993 |
| Hypertension |
Stimulate
|
20392834 |
| Hypertrophy |
Associate
|
25910598 |
| Hypertrophy |
Stimulate
|
30205161 |
| Hypoplastic Left Heart Syndrome |
Associate
|
24793904 |
| Intellectual Disability |
Associate
|
37510258 |
| Iron Overload |
Associate
|
33039869 |
| Ischemia |
Associate
|
25910598 |
| Leukemia |
Associate
|
25446257 |
| Leukemia Myeloid |
Associate
|
11376870, 17431504, 18483256, 25446257 |
| Leukemia Myeloid Acute |
Associate
|
18483256 |
| Long QT Syndrome |
Associate
|
36496072 |
| Lymphoma |
Associate
|
35482553 |
| Lymphoma Large B Cell Diffuse |
Associate
|
34088288 |
| Malformations of Cortical Development Group I |
Associate
|
32787872 |
| Mammary Neoplasms Animal |
Associate
|
9060999 |
| Mental Retardation X Linked 53 |
Associate
|
37510258 |
| Microcephaly |
Associate
|
36137748 |
| Mitochondrial Diseases |
Associate
|
29901626 |
| Myotonic Dystrophy |
Associate
|
34371182 |
| Neoplasm Metastasis |
Associate
|
28970726 |
| Neoplasms |
Associate
|
18305109, 19749792, 20454608, 26719529, 28869833, 28970726, 30816530, 9060999 |
| Neoplasms |
Stimulate
|
35482553 |
| Neuroblastoma |
Associate
|
9060999 |
| Osteoarthritis |
Stimulate
|
30205161 |
| Osteogenesis imperfecta type 1A |
Associate
|
37410216 |
| Plaque Atherosclerotic |
Associate
|
28011257 |
| Polymorphic catecholergic ventricular tachycardia |
Associate
|
34888671 |
| Prostatic Neoplasms |
Associate
|
17387273, 20454608 |
| Reperfusion Injury |
Associate
|
35805993 |
|