|
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 |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer (estrogen-receptor negative), Breast cancer |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension, Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), High blood pressure / hypertension |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
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 |
| Arthritis Rheumatoid |
Associate
|
34691030 |
| Breast Neoplasms |
Associate
|
17529967, 18437204, 18612136, 18973230, 19094228, 19656774, 20453838, 20484103, 20605201, 20699374, 21118973, 21194473, 21596841, 21791674, 22045194, 22053997, 22357627, 22454379, 22532573, 22867275, 22910930, 23544014, 23756864, 23893088, 25862352, 25881232, 26191300, 26911390, 27165221, 30078824, 32366738 View all (16 more) |
| Carcinoma Hepatocellular |
Associate
|
22326833, 29927686, 37889536 |
| Carotid Body Tumor |
Associate
|
30967136 |
| Colorectal Neoplasms |
Associate
|
32321427 |
| Glioblastoma |
Associate
|
32003759 |
| Glioma |
Associate
|
32003759 |
| Hodgkin Disease |
Associate
|
10233704, 12588355 |
| Inflammation |
Associate
|
22253938 |
| Leukemia |
Associate
|
38511641 |
| Leukemia Myeloid Acute |
Associate
|
29956722, 31015209, 38186215, 38511641, 39952006 |
| Lymphoma |
Associate
|
12588355 |
| Lymphoma B Cell |
Associate
|
12588355 |
| Lymphoma Large Cell Anaplastic |
Associate
|
10233704, 12588355 |
| Lymphoma T Cell |
Associate
|
10233704 |
| Lymphoma T Cell Peripheral |
Associate
|
12588355 |
| Melanoma |
Inhibit
|
9616178 |
| Neoplasms |
Associate
|
10233704, 12588355, 17207284, 21596841, 23577780, 31015209 |
| Neoplasms |
Inhibit
|
27165221 |
| Neoplasms |
Stimulate
|
32003759 |
| Neoplasms Adipose Tissue |
Associate
|
37676424 |
| Neutrophil Actin Dysfunction |
Associate
|
9616178 |
| Neutrophil Immunodeficiency Syndrome |
Associate
|
9616178 |
| Periodontitis |
Associate
|
34925639 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
12588355 |
| Prostatic Neoplasms |
Associate
|
21499820 |
| Urinary Bladder Neoplasms |
Associate
|
24163127 |
| Uterine Cervical Neoplasms |
Associate
|
39206965 |
| Uterine Cervical Neoplasms |
Stimulate
|
40038352 |
| Venous Thromboembolism |
Associate
|
34925639 |
|