|
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 |
| Biliary Cholangitis |
Primary biliary cholangitis |
N/A |
N/A |
GWAS |
| Biliary Cirrhosis |
Primary biliary cirrhosis |
N/A |
N/A |
GWAS |
| Diffuse Cutaneous Systemic Sclerosis |
Diffuse cutaneous systemic sclerosis |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
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 |
| Papillary Renal Carcinoma |
Papillary renal cell carcinoma |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
rheumatoid arthritis, Rheumatoid arthritis |
N/A |
N/A |
ClinVar, GWAS |
| Sjogren-Larsson Syndrome |
Sjogren-Larsson Syndrome |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus, susceptibility to, 10, systemic lupus erythematosus, Systemic lupus erythematosus, association with susceptibility to, 10, Systemic lupus erythematosus |
N/A |
N/A |
ClinVar, GenCC, GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenomatous Polyposis Coli |
Associate
|
37716650 |
| Albuminuria |
Associate
|
37978231 |
| Antiphospholipid Syndrome |
Associate
|
19644876 |
| Aortic Aneurysm Abdominal |
Associate
|
38175709 |
| Arthritis Juvenile |
Associate
|
29928998, 30940621 |
| Arthritis Rheumatoid |
Associate
|
17158136, 17599733, 17881657, 18285424, 21807777, 23941291, 25011482, 27092776, 29379122, 31024565, 31169264, 33583939, 36814288, 39953635 |
| Atherosclerosis |
Associate
|
33666161 |
| Autoimmune Diseases |
Associate
|
18285424, 19796918, 20131239, 20639879, 21804190, 22544929, 22674082, 22909381, 23302156, 23616277, 24116155, 24697591, 25084355, 25205108, 26112714, 28525378, 28578407, 31421124, 31980060, 32328064, 33583939, 33666161, 36814288, 36869052, 37978231 View all (10 more) |
| Breast Neoplasms |
Associate
|
25649192 |
| Carcinogenesis |
Inhibit
|
22507190 |
| Carcinoma Ductal |
Inhibit
|
25649192 |
| Carcinoma Hepatocellular |
Associate
|
20676325 |
| Carcinoma Hepatocellular |
Inhibit
|
29079574, 29375210 |
| Carcinoma Intraductal Noninfiltrating |
Inhibit
|
25649192 |
| Carcinoma Renal Cell |
Associate
|
28562332 |
| Cardiovascular Diseases |
Associate
|
25011482 |
| CD59 Deficiency |
Associate
|
18045485, 32441646 |
| Chlamydial Pneumonia |
Associate
|
28440293 |
| Cholangitis Sclerosing |
Associate
|
36828809 |
| Chronic recurrent multifocal osteomyelitis |
Associate
|
33628812 |
| Colitis Ulcerative |
Associate
|
17881657, 22257839 |
| Communication Disorders |
Stimulate
|
29847542 |
| Coronary Artery Disease |
Associate
|
24699314, 33802675 |
| COVID 19 |
Associate
|
33440148, 35114420 |
| Crohn Disease |
Associate
|
17881657, 22257839 |
| Death |
Associate
|
22800185 |
| Dermatomyositis |
Associate
|
25337792 |
| Diabetes Mellitus Type 2 |
Associate
|
32806763, 36552771 |
| Digestive System Neoplasms |
Associate
|
39993973 |
| Endometrial Neoplasms |
Associate
|
35993041 |
| Epstein Barr Virus Infections |
Stimulate
|
17609264 |
| Esophageal Neoplasms |
Associate
|
39993973 |
| Familial Primary Pulmonary Hypertension |
Associate
|
36899621 |
| Fatigue Syndrome Chronic |
Associate
|
32328064 |
| Fibrosis |
Associate
|
29079574 |
| Glioma |
Stimulate
|
33902005 |
| Hepatitis B Chronic |
Associate
|
29375210 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Inhibit
|
25649192 |
| HIV Seropositivity |
Associate
|
22088620 |
| Hyperglycemia |
Associate
|
32806763 |
| Hypoalphalipoproteinemias |
Associate
|
33802675 |
| Hypothyroidism |
Associate
|
33802675 |
| Hypoxia |
Inhibit
|
34108245 |
| Infections |
Associate
|
29847542 |
| Inflammation |
Associate
|
18200047, 22544929, 23275442, 25337792, 28578407, 29867973, 31024565, 31122533, 31718015, 32188105, 32806763, 33802675, 39953635 |
| Inflammatory Bowel Diseases |
Associate
|
17881657, 18285424, 22257839, 28578407 |
| Influenza Human |
Associate
|
29847542 |
| Insulin Resistance |
Associate
|
32188105 |
| Insulin Resistance |
Stimulate
|
32806763 |
| Kidney Diseases |
Associate
|
23023776 |
| Laryngeal Neoplasms |
Associate
|
36033826 |
| Li Fraumeni Syndrome |
Associate
|
18505922 |
| Liver Cirrhosis |
Associate
|
29375210 |
| Liver Cirrhosis Biliary |
Associate
|
20639879, 20639880, 25205108 |
| Lung Diseases Interstitial |
Associate
|
22440820, 25337792 |
| Lung Neoplasms |
Associate
|
22194884 |
| Lupus Erythematosus Cutaneous |
Associate
|
19758313 |
| Lupus Erythematosus Discoid |
Associate
|
19758313 |
| Lupus Erythematosus Systemic |
Associate
|
15657875, 17133578, 17158136, 17189288, 17389033, 17393452, 17412832, 17557928, 17881657, 18050197, 18050247, 18200047, 18204446, 18285424, 18311811, 18668568, 19116937, 19440200, 19758313, 19796918, 19854706, 20112383, 20169177, 20848568, 21408207, 21627826, 21952918, 22088620, 22110124, 22500098, 22674082, 23236436, 23341919, 23372721, 23941291, 24116155, 24697591, 25084355, 25130328, 25205108, 26606652, 28578407, 29437559, 29867973, 31024565, 31156624, 31421124, 31877114, 31980060, 33687153, 34952359, 35958624, 36814288 View all (38 more) |
| Lupus Erythematosus Systemic |
Stimulate
|
20112383, 23349905, 28525378, 32730703 |
| Lymphohistiocytosis Hemophagocytic |
Associate
|
32517705 |
| Lymphoma Primary Effusion |
Associate
|
19129183 |
| Macrophage Activation Syndrome |
Associate
|
31718015 |
| Macular Edema |
Associate
|
24116155 |
| Magnesium Deficiency |
Associate
|
33802675 |
| Melanoma |
Associate
|
22909381 |
| Multiple Sclerosis |
Associate
|
18285424, 28578407 |
| Myasthenia Gravis |
Associate
|
23049601 |
| Myositis |
Associate
|
25337792 |
| Neonatal Systemic lupus erythematosus |
Associate
|
22674082 |
| Neoplasm Metastasis |
Associate
|
22909381, 25649192 |
| Neoplasms |
Inhibit
|
17609264, 26646564, 29079574 |
| Neoplasms |
Associate
|
19028697, 20676325, 22194884, 22507190, 35012444 |
| Neoplasms Adipose Tissue |
Associate
|
31718015 |
| Nonsyndromic Deafness |
Associate
|
22674082 |
| Obesity |
Stimulate
|
31718015, 32188105 |
| Pancreatic Neoplasms |
Associate
|
35012444, 35362545 |
| Pneumonia |
Associate
|
29847542 |
| Polymyositis |
Associate
|
25337792 |
| Polyradiculoneuropathy Chronic Inflammatory Demyelinating |
Associate
|
22257839 |
| Positive Pressure Respiration Intrinsic |
Associate
|
22088620 |
| Prostatic Neoplasms |
Associate
|
33934205 |
| Psoriasis |
Associate
|
18200047 |
| Pulmonary Fibrosis |
Associate
|
19116937, 19644887 |
| Renal Insufficiency Chronic |
Associate
|
37978231 |
| Reoviridae Infections |
Associate
|
19565491 |
| Rheumatic Diseases |
Associate
|
25011482 |
| Scleroderma Systemic |
Associate
|
19116937, 19644887, 19796918, 19877059, 20383147, 22440820, 23372721, 31024565, 31421124, 31916109, 31980060 |
| Severe Acute Respiratory Syndrome |
Associate
|
31916109 |
| Sjogren's Syndrome |
Associate
|
18050197, 19116937, 19565491, 22674082, 23302156, 24097067, 28076899, 28578407, 31169264, 36814288 |
| Sjogren's Syndrome |
Stimulate
|
38016737 |
| Spondylitis Ankylosing |
Associate
|
33369221 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
35664436 |
| Stomach Neoplasms |
Inhibit
|
20507321 |
| Stroke |
Associate
|
39953635 |
| Thrombocytopenia |
Associate
|
30168487 |
| Thyroid Neoplasms |
Associate
|
22507190 |
| Thyroiditis Subacute |
Associate
|
22507190 |
| Uveitis |
Associate
|
24116155 |
| Uveitis Anterior |
Associate
|
24116155 |
| Virus Diseases |
Associate
|
22194884, 22507190, 28578407 |
| Warburg Sjo Fledelius syndrome |
Associate
|
37978231 |
|