|
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 |
| ALys amyloidosis |
ALys amyloidosis |
N/A |
N/A |
GenCC |
| Amyloidosis |
familial visceral amyloidosis |
N/A |
N/A |
GenCC |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate
|
11849445, 16126226, 16441658, 17407782, 20382744, 24747948, 30029603, 33640796, 9010773 |
| Adenoma |
Inhibit
|
12480915 |
| Adenoma |
Associate
|
20002690, 36216310 |
| Alzheimer Disease |
Associate
|
27249223, 27327445 |
| Amniotic Band Syndrome |
Associate
|
27452435 |
| Amyloid Neuropathies Familial |
Associate
|
12675840, 17407782 |
| Amyloidosis |
Associate
|
16126226, 21818368, 28049649, 29455155, 37833900 |
| Amyloidosis Familial |
Associate
|
11849445, 12050338, 12675840, 20382744, 25217048, 29455155, 39511224 |
| Amyloidosis familial visceral |
Associate
|
12675840, 27926837 |
| Aortic Aneurysm Abdominal |
Associate
|
22797469 |
| Arthritis Rheumatoid |
Associate
|
2596882 |
| Autistic Disorder |
Associate
|
40185380 |
| Breast Neoplasms |
Associate
|
12473177 |
| Breast Neoplasms Male |
Associate
|
12473177 |
| Carcinoma Acinar Cell |
Associate
|
27177644 |
| Churg Strauss Syndrome |
Stimulate
|
18263571 |
| Colitis Ulcerative |
Stimulate
|
12519391, 1427374 |
| Colitis Ulcerative |
Associate
|
29556621, 33359089 |
| Coronary Disease |
Associate
|
34692829 |
| Corticobasal Degeneration |
Associate
|
27061067 |
| COVID 19 |
Associate
|
37178757 |
| Crohn Disease |
Associate
|
11919217, 34529988 |
| Crohn Disease |
Stimulate
|
12519391, 1427374 |
| Dental Caries |
Associate
|
26161606 |
| Diabetic Nephropathies |
Inhibit
|
24495950 |
| Diabetic Nephropathies |
Associate
|
37656997 |
| Dry Eye Syndromes |
Inhibit
|
22736608 |
| Enterocolitis Necrotizing |
Associate
|
35410162 |
| Facial Dermatoses |
Associate
|
24455724 |
| Fibrosis |
Associate
|
34858345, 38027143 |
| Gastrointestinal Neoplasms |
Associate
|
25217048 |
| Glaucoma Open Angle |
Inhibit
|
37108298 |
| Glioblastoma |
Associate
|
32687679, 33047898 |
| Gout |
Associate
|
35359923 |
| Granulomatosis with Polyangiitis |
Associate
|
21412229 |
| Heart Diseases |
Associate
|
28049649 |
| HIV Infections |
Stimulate
|
37653055 |
| Inflammation |
Stimulate
|
12519391 |
| Inflammation |
Inhibit
|
24495950 |
| Inflammation |
Associate
|
28542447, 30594242, 34858345 |
| Inflammatory Bowel Diseases |
Associate
|
11919217, 1427374, 25217048 |
| Inflammatory Bowel Diseases |
Inhibit
|
24013298 |
| Inflammatory Bowel Diseases |
Stimulate
|
32556182 |
| Intestinal Diseases |
Inhibit
|
12480915 |
| Keratoconus |
Associate
|
21031023 |
| Kidney Diseases |
Associate
|
11849445, 38027143 |
| Kidney Failure Chronic |
Associate
|
34858345 |
| Leukemia Monocytic Acute |
Associate
|
10765922 |
| Leukemia Myeloid Acute |
Associate
|
10889907, 29286103 |
| Leukemia Promyelocytic Acute |
Associate
|
9858224 |
| Leukemia T Cell |
Associate
|
10889907 |
| Lung Diseases Interstitial |
Associate
|
8736208 |
| Lung Neoplasms |
Associate
|
37883760 |
| Lupus Erythematosus Systemic |
Stimulate
|
31019506 |
| Lymphadenitis |
Associate
|
1888450 |
| Lymphoma Large B Cell Diffuse |
Associate
|
37716978 |
| Macular Degeneration |
Associate
|
32974084 |
| Mammary Analogue Secretory Carcinoma |
Associate
|
27177644 |
| Melanoma |
Associate
|
25944800 |
| Metaplasia |
Associate
|
20398667 |
| Multiple Myeloma |
Associate
|
11714920, 14632572, 20382744, 20958028, 23919586, 26884716, 39511224 |
| Multiple Sclerosis |
Associate
|
35049167 |
| Muscular Dystrophy Duchenne |
Associate
|
24190443 |
| Myasthenia Gravis |
Associate
|
35802752 |
| Nasal Polyps |
Associate
|
23709377, 33506054 |
| Neointima |
Associate
|
27926837 |
| Neoplasms |
Associate
|
10656748, 18419622, 27177644, 34189853, 36871023, 9364303 |
| Parkinson Disease |
Associate
|
27061067 |
| Plaque Amyloid |
Associate
|
28049649 |
| Pleural Effusion |
Associate
|
29047238 |
| Prion Diseases |
Associate
|
35359923 |
| Psoriasis |
Associate
|
25332209 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
36655999 |
| Reticular dysgenesis |
Associate
|
32974084 |
| Sarcoidosis |
Stimulate
|
8736208 |
| Sarcoma Myeloid |
Associate
|
14632572, 28574302 |
| Severe Acute Respiratory Syndrome |
Stimulate
|
26161606 |
| Shock |
Associate
|
37614152 |
| Skin Diseases |
Associate
|
25332209 |
| Spondylitis Ankylosing |
Stimulate
|
40591022 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
33361747 |
| Stomach Neoplasms |
Associate
|
22133303 |
| Supranuclear Palsy Progressive |
Associate
|
27061067 |
| Synovial Cyst |
Associate
|
2596882 |
| Tauopathies |
Associate
|
27061067 |
| Thrombocythemia Essential |
Associate
|
31801935 |
| Thymoma |
Associate
|
35802752 |
| Tissue Adhesions |
Associate
|
37385390 |
| Ventricular Fibrillation |
Associate
|
23919586 |
|