|
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, Childhood asthma, Adult asthma, Asthma (moderate or severe), Asthma (childhood onset), Nonatopic asthma, Atopic asthma |
N/A |
N/A |
GWAS |
| Biliary Cholangitis |
Primary biliary cholangitis |
N/A |
N/A |
GWAS |
| Biliary Cirrhosis |
Primary biliary cirrhosis |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Hypothyroidism |
Hypothyroidism |
N/A |
N/A |
GWAS |
| Immunodeficiency |
immunodeficiency 84 |
N/A |
N/A |
GenCC |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Myasthenia Gravis |
Myasthenia gravis |
N/A |
N/A |
GWAS |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
16849520 |
| Adenocarcinoma Of Esophagus |
Associate
|
16849520 |
| Agammaglobulinemia |
Associate
|
38015619 |
| Arthritis Rheumatoid |
Stimulate
|
29193869 |
| Arthritis Rheumatoid |
Inhibit
|
35883614 |
| Asthma |
Associate
|
21985515, 23154084, 24406073, 28241063, 28668238, 32078577, 36967681, 38494094, 40105091 |
| Atherosclerosis |
Associate
|
38193570 |
| Autoimmune Diseases |
Associate
|
38015619 |
| Breast Neoplasms |
Associate
|
21247443 |
| Breast Neoplasms Male |
Associate
|
25906114 |
| Chronobiology Disorders |
Associate
|
38015619 |
| Colorectal Neoplasms |
Associate
|
29955133 |
| Delayed Cranial Ossification due to CBFB Haploinsufficiency |
Associate
|
38015619 |
| Diabetes Mellitus |
Associate
|
38193570 |
| Diabetes Mellitus Type 1 |
Associate
|
25170024, 29343548, 31558544 |
| Drug Hypersensitivity |
Associate
|
38015619 |
| Drug Related Side Effects and Adverse Reactions |
Stimulate
|
32591583 |
| Fibrosis |
Associate
|
35903097 |
| Graves Disease |
Associate
|
29510406, 35509980 |
| Immune System Diseases |
Associate
|
25271777, 38015619 |
| Immunologic Deficiency Syndromes |
Associate
|
34920454 |
| Inflammation |
Stimulate
|
26484354 |
| Leukemia |
Associate
|
11745366, 17296582, 21247443, 31487824, 38018448 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
18184862, 21139082, 36287107 |
| Leukemia Prolymphocytic T Cell |
Associate
|
26466571, 28584254 |
| Liver Cirrhosis |
Associate
|
35903097 |
| Liver Cirrhosis Biliary |
Associate
|
23000144, 25690649, 28588209 |
| Lung Neoplasms |
Associate
|
24823631, 24823637, 31251838 |
| Lupus Erythematosus Systemic |
Associate
|
22464253, 25271777, 29437559, 29945920, 33727237 |
| Lymphoma B Cell |
Associate
|
30087459 |
| Lymphoma Follicular |
Associate
|
11745366 |
| Melanoma Cutaneous Malignant |
Associate
|
37401304 |
| Metabolic Syndrome |
Associate
|
38193570 |
| Multiple Myeloma |
Associate
|
24292625, 26269456, 26430725, 26823144, 27881177, 28643330, 29729093, 30228232, 30234487, 30696815, 30760870, 32591583, 33547076, 36196173, 37934799, 39704419 View all (1 more) |
| Multiple Sclerosis |
Associate
|
27080863 |
| Multiple Sclerosis Relapsing Remitting |
Associate
|
34385287 |
| Neoplasm Metastasis |
Associate
|
31251838 |
| Neoplasms |
Associate
|
18206652, 21247443, 24823637, 25869284, 26466571, 31251838, 33205076, 34583995, 37596276 |
| Neoplasms Squamous Cell |
Associate
|
33687433 |
| Periodontitis |
Associate
|
27302879 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
38018448 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
12028018 |
| Respiratory Sounds |
Associate
|
23154084, 36967681 |
| Scleroderma Systemic |
Associate
|
32977850 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
36930079 |
| Status Asthmaticus |
Associate
|
25256354 |
| Thyroiditis Autoimmune |
Associate
|
29510406 |
| Urinary Bladder Neoplasms |
Associate
|
36211821 |
| Uterine Cervical Neoplasms |
Associate
|
39206965 |
|