|
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 |
| Diabetes |
Type 2 diabetes (adjusted for BMI) |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
17521701 |
| Airway Obstruction |
Associate
|
31596609 |
| Asthma |
Associate
|
31596609 |
| Breast Neoplasms |
Associate
|
11953821, 15096563, 17172821, 17521701, 17971898, 18579687, 18922924, 19666396, 19748849, 23764000, 26885618, 27997592, 34191390, 35875026 |
| Breast Neoplasms |
Stimulate
|
16357167, 23592399 |
| Breast Neoplasms |
Inhibit
|
19830706 |
| Calcinosis Cutis |
Stimulate
|
11953821 |
| Carcinogenesis |
Associate
|
30576937, 34667150 |
| Carcinoma Ductal |
Associate
|
35906698 |
| Carcinoma Ductal Breast |
Stimulate
|
17521701 |
| Carcinoma Renal Cell |
Associate
|
35983409 |
| Colitis Ulcerative |
Stimulate
|
34418586 |
| Colorectal Neoplasms |
Inhibit
|
19830706 |
| Endocrine System Diseases |
Associate
|
23764000 |
| Hemangioma capillary infantile |
Associate
|
32223448 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
12368243, 16357167, 17521701 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
33510140 |
| Lupus Erythematosus Systemic |
Associate
|
31156624 |
| Neoplasm Metastasis |
Associate
|
18579687, 23449978 |
| Neoplasm Metastasis |
Stimulate
|
24375440 |
| Neoplasm Metastasis |
Inhibit
|
26885618 |
| Neoplasms |
Stimulate
|
16357167, 17971898, 30576937 |
| Neoplasms |
Inhibit
|
18567002, 18579687, 18922924, 19830706, 21446014 |
| Neoplasms |
Associate
|
18649734, 19666396, 20696638, 21656828, 23592399, 26113311, 26885618, 27997592, 30315111, 30918060, 34667150, 36809297 |
| Ovarian Neoplasms |
Associate
|
18567002 |
| Pancreatic Neoplasms |
Stimulate
|
38520747 |
| Personality Disorders |
Inhibit
|
20550708 |
| Phyllodes Tumor of the Prostate |
Associate
|
28829509 |
| Prodromal Symptoms |
Stimulate
|
27496649 |
| Prostatic Neoplasms |
Associate
|
10625666, 20550708, 21446014, 21656828, 23449978, 24375440, 26885618, 28829509, 40457266 |
| Prostatic Neoplasms |
Inhibit
|
37900138 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
32091413 |
| Prostatitis |
Associate
|
10625666 |
| Prostatitis |
Inhibit
|
21656828 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
28450970 |
| Small Cell Lung Carcinoma |
Associate
|
36809297 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit
|
34667150 |
| Stomach Neoplasms |
Associate
|
30576937 |
| Tachycardia Atrioventricular Nodal Reentry |
Associate
|
17971898 |
|