|
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 |
| Proteasome-associated autoinflammatory syndrome |
proteasome-associated autoinflammatory syndrome 3 |
N/A |
N/A |
ClinVar |
| Psoriasis |
Psoriasis |
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 |
| AA amyloidosis |
Inhibit
|
14997933 |
| Achalasia Addisonianism Alacrimia syndrome |
Associate
|
36746983 |
| Alveolitis Extrinsic Allergic |
Associate
|
20153157 |
| Arthritis |
Associate
|
7763114 |
| Arthritis Rheumatoid |
Associate
|
32998980, 39342401 |
| Asthma |
Associate
|
32867763 |
| Autoimmune Diseases |
Associate
|
24040045 |
| Axial osteomalacia |
Associate
|
7763114 |
| Breast Neoplasms |
Stimulate
|
35037412 |
| Breast Neoplasms |
Associate
|
36746983, 36766731 |
| Burkitt Lymphoma |
Associate
|
25463610, 28465297, 35408790 |
| Carcinogenesis |
Associate
|
27993616 |
| Carcinogenesis |
Inhibit
|
37986152 |
| Carcinoma Ductal |
Associate
|
30909665 |
| Carcinoma Pancreatic Ductal |
Associate
|
34957503 |
| Carcinoma Renal Cell |
Associate
|
22705098 |
| Carcinoma Squamous Cell |
Inhibit
|
23024775 |
| Cardiomyopathy infantile histiocytoid |
Associate
|
22705098 |
| Celiac Disease |
Associate
|
28934294 |
| Cholesteatoma |
Associate
|
37762439 |
| Colorectal Neoplasms |
Associate
|
24040045, 34162701 |
| Depressive Disorder Major |
Associate
|
31305436 |
| Dermatitis |
Associate
|
27258892 |
| Dermatomyositis |
Associate
|
39447013 |
| Diabetes Mellitus Type 1 |
Associate
|
7847389 |
| Diabetes Mellitus Type 2 |
Stimulate
|
36527108 |
| Diabetes Mellitus Type 2 |
Inhibit
|
39342401 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
32808978 |
| Epstein Barr Virus Infections |
Associate
|
10458773, 16148164, 24714353, 9746788 |
| Erectile Dysfunction |
Associate
|
25343742 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
29073155 |
| Focal cortical dysplasia of Taylor |
Stimulate
|
27566410 |
| Gastrointestinal Neoplasms |
Associate
|
16855371 |
| GATA2 Deficiency |
Associate
|
20671118 |
| Glioblastoma |
Associate
|
16101128, 23526983 |
| Glomerulonephritis IGA |
Associate
|
34861820 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate
|
7632957, 9746788 |
| Hodgkin Disease |
Associate
|
11241300, 16332968, 7632957, 7693972, 9746788, 9774558 |
| Hyperoxia |
Stimulate
|
29155844 |
| Hypersensitivity Delayed |
Stimulate
|
21821548 |
| Ichthyosis Vulgaris |
Associate
|
25548428 |
| Infections |
Stimulate
|
15207616 |
| Infections |
Associate
|
19002111, 23308294, 7933121 |
| Infections |
Inhibit
|
29462212 |
| Infectious Mononucleosis |
Associate
|
7933121 |
| Leukemia Myeloid Acute |
Associate
|
24056819, 24377540 |
| Lupus Erythematosus Systemic |
Associate
|
19167523 |
| Lupus Nephritis |
Associate
|
31638917 |
| Lymphoma |
Associate
|
9490694 |
| Lymphoma B Cell |
Associate
|
1710288 |
| Lymphoma T Cell |
Associate
|
23628820 |
| Lymphoma T Cell Peripheral |
Associate
|
8396685 |
| Lymphoproliferative Disorders |
Associate
|
21896011, 23346186 |
| Melanoma |
Associate
|
10079252, 23360169, 32060274, 9632673 |
| Microscopic Polyangiitis |
Associate
|
23690996, 28569178 |
| Mitochondrial Diseases |
Stimulate
|
37433777 |
| Monoclonal Gammopathy of Undetermined Significance |
Associate
|
20008301 |
| Multiple Myeloma |
Associate
|
24377540 |
| Multiple Sclerosis |
Inhibit
|
20174631 |
| Myositis |
Associate
|
25098831 |
| Myositis Inclusion Body |
Associate
|
37153570 |
| Nasopharyngeal Carcinoma |
Associate
|
11241300, 1313894, 14694109, 16332968, 18087217, 19881953, 21039050, 21821548, 22051182, 22837212, 24109232, 33771238, 34257379, 7693972, 8396685 |
| Nasopharyngeal Neoplasms |
Associate
|
21039050, 33771238 |
| Neoplasm Metastasis |
Associate
|
21039050, 27497761, 28639897 |
| Neoplasm Metastasis |
Inhibit
|
37986152 |
| Neoplasms |
Associate
|
11241300, 12836015, 15611290, 16101128, 16148164, 17609424, 18181098, 18694960, 19002111, 20671118, 21741845, 24040045, 24154688, 24344220, 25329802, 26399368, 29073155, 32808978, 34189853, 36700205, 36746983, 7693972 View all (7 more) |
| Neoplasms |
Inhibit
|
15265880, 16855371, 37986152 |
| Niemann Pick Disease Type C |
Associate
|
31554374 |
| Non Muscle Invasive Bladder Neoplasms |
Stimulate
|
40012053 |
| Oncocytoma renal |
Associate
|
22705098 |
| Osteoporosis |
Associate
|
32805449 |
| Ovarian Neoplasms |
Associate
|
22249249 |
| Pancreatic Neoplasms |
Associate
|
24040045 |
| Parkinson Disease |
Associate
|
27098790 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
24056819 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
27599459 |
| Primary Myelofibrosis |
Associate
|
32331228 |
| Pyruvate Carboxylase Deficiency Disease |
Associate
|
27497761 |
| Retinoblastoma |
Associate
|
14983503 |
| Rheumatic Diseases |
Associate
|
7763114 |
| Seizures |
Associate
|
30249265 |
| Sjogren's Syndrome |
Associate
|
16414974, 37153570 |
| Spondylitis Ankylosing |
Associate
|
22034108, 7763114 |
| Stomach Neoplasms |
Associate
|
19002111 |
| Triple Negative Breast Neoplasms |
Associate
|
36746983 |
| Tuberculosis |
Associate
|
37340462 |
| Tuberculosis Multidrug Resistant |
Associate
|
37340462 |
| Tuberculosis Spinal |
Associate
|
37340462 |
| Tuberous Sclerosis |
Stimulate
|
27566410 |
| Urethral Neoplasms |
Associate
|
19756593 |
| Urinary Bladder Neoplasms |
Inhibit
|
39716185 |
| Uterine Cervical Dysplasia |
Inhibit
|
23024775 |
| Uterine Cervical Neoplasms |
Associate
|
28639897 |
| Uterine Cervical Neoplasms |
Stimulate
|
37986152 |
| Uveitis Anterior |
Associate
|
7763114, 9306872 |
| Vitiligo |
Associate
|
25548428, 28129744 |
|