|
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 |
| Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia |
inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
N/A |
N/A |
GenCC |
| Oculopharyngeal Muscular Dystrophy |
oculopharyngeal muscular dystrophy 2 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate
|
28542905, 35637421 |
| Adenocarcinoma of Lung |
Stimulate
|
32086933 |
| Adenocarcinoma of Lung |
Associate
|
35343834, 35529270, 36061307 |
| Adrenocortical Carcinoma |
Associate
|
33746977, 35529270 |
| Alzheimer Disease |
Associate
|
40183343 |
| Amyotrophic Lateral Sclerosis |
Associate
|
29358076, 35355568 |
| Bone Diseases |
Associate
|
36451863 |
| Breast Neoplasms |
Stimulate
|
31263129 |
| Breast Neoplasms |
Associate
|
34273466, 35529270 |
| Carcinogenesis |
Associate
|
37308993, 38070488, 8631886 |
| Carcinoma Hepatocellular |
Associate
|
29774077, 35529270 |
| Carcinoma Hepatocellular |
Stimulate
|
32631107 |
| Carcinoma Non Small Cell Lung |
Associate
|
23658645, 26919236, 29509247, 32246902, 34812534, 36262980, 37308993 |
| Carcinoma Renal Cell |
Associate
|
33628845 |
| Carcinoma Small Cell |
Associate
|
12871776 |
| Carcinoma Squamous Cell |
Associate
|
10874220, 35529270 |
| Cholangiocarcinoma |
Associate
|
39615627 |
| Colorectal Neoplasms |
Associate
|
33213490, 35279145, 39810713 |
| Colorectal Neoplasms |
Stimulate
|
37716979 |
| COVID 19 |
Associate
|
36460278 |
| Crohn Disease |
Associate
|
36595818 |
| Depression Postpartum |
Associate
|
34856750 |
| Diabetes Mellitus Type 1 |
Stimulate
|
36457997 |
| Distal myopathy Nonaka type |
Associate
|
34291734 |
| Endocrine System Diseases |
Associate
|
31263129, 34273466 |
| Endometrial Neoplasms |
Associate
|
34347888, 35731272 |
| Endometriosis |
Associate
|
33232273, 36672827 |
| Esophageal Neoplasms |
Associate
|
35529270 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
10874220, 34054840 |
| Fragile X Syndrome |
Associate
|
17716999 |
| Frontotemporal Dementia |
Associate
|
29358076 |
| Gallbladder Neoplasms |
Associate
|
37142981 |
| Gastrointestinal Neoplasms |
Associate
|
35794744 |
| Glioblastoma |
Associate
|
35558067, 36810326 |
| Glioma |
Associate
|
10441480, 29547514, 34432221, 38070488 |
| Head and Neck Neoplasms |
Associate
|
32669614 |
| Heredodegenerative Disorders Nervous System |
Associate
|
30279180 |
| Hypoglycemia |
Associate
|
10441480 |
| Hypoxia |
Inhibit
|
10441480 |
| Hypoxia |
Associate
|
36810326 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate
|
36312597 |
| Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia |
Associate
|
30279180 |
| Inflammation |
Associate
|
36312597 |
| Kidney Neoplasms |
Associate
|
32826868 |
| Lipoma |
Associate
|
36870688 |
| Liver Neoplasms |
Associate
|
28542905, 29358076 |
| Lung Neoplasms |
Associate
|
10874220, 12871776, 19609729, 20716340, 24246049, 36262980 |
| Lung Neoplasms |
Stimulate
|
19414390, 8631886 |
| Lupus Erythematosus Systemic |
Associate
|
16859514 |
| Motor Neuron Disease |
Associate
|
36515702 |
| Multiple Myeloma |
Associate
|
28086949, 33649796, 33794982, 36177774, 36401285, 36451863 |
| Muscular Dystrophies Limb Girdle |
Associate
|
30279180 |
| Muscular Dystrophy Duchenne |
Associate
|
25662218 |
| Myocardial Infarction |
Associate
|
36061306 |
| Myositis Inclusion Body |
Associate
|
26785370 |
| Neoplasm Metastasis |
Associate
|
29774077, 37142981, 37308993, 37716979 |
| Neoplasms |
Associate
|
10521432, 10874220, 18401453, 18519039, 19934309, 24823909, 32485038, 32915499, 33273988, 33794982, 35529270, 35794744, 36451863, 37308993, 37716979, 39268079, 39810713 View all (2 more) |
| Neoplasms |
Inhibit
|
21321999 |
| Neoplasms |
Stimulate
|
38070488 |
| Neoplasms Glandular and Epithelial |
Associate
|
8631886 |
| Neuroblastoma |
Stimulate
|
21321999 |
| Neuroblastoma |
Associate
|
38331110 |
| Neurodegenerative Diseases |
Associate
|
25375143, 34291734 |
| Neuronal intranuclear inclusion disease |
Associate
|
36621630 |
| Osteitis Deformans |
Associate
|
35355568 |
| Ovarian Neoplasms |
Associate
|
34187307, 35343831, 36259156, 36670423 |
| Prion Diseases |
Associate
|
28542905 |
| Prostatic Neoplasms |
Associate
|
24823909, 30307468, 32710725, 33273988, 37208565 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
32485038 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
36808722 |
| Reperfusion Injury |
Associate
|
39341981 |
| Small Cell Lung Carcinoma |
Associate
|
19414390 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
10874220, 37539565 |
| Stomach Neoplasms |
Associate
|
20440860, 26805816, 35529270, 37256823 |
| Urethral Neoplasms |
Associate
|
36189296 |
| Uterine Cervical Neoplasms |
Associate
|
24013563 |
|