|
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 |
| Breast cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Breast Cancer |
Breast cancer (male), Breast cancer subtype (triple negative vs luminal A-like), Breast cancer subtype (triple negative vs luminal B-like/HER2-negative-like) |
N/A |
N/A |
GWAS |
| Endometriosis |
Endometriosis |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Meningioma |
Meningioma |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Ovarian cancer |
Epithelial ovarian cancer |
N/A |
N/A |
GWAS |
| Restless Legs Syndrome |
Restless legs syndrome |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Brain Neoplasms |
Associate
|
24755950 |
| Carcinoma Ovarian Epithelial |
Associate
|
23535730 |
| Cell Transformation Viral |
Associate
|
29563185 |
| Emanuel syndrome |
Associate
|
10554802 |
| Emphysema |
Associate
|
12555219 |
| Hematologic Neoplasms |
Associate
|
11756182, 39499083 |
| Inflammation |
Associate
|
26480920 |
| Leukemia |
Associate
|
23673860, 31527241, 37031220, 38048593 |
| Leukemia Megakaryoblastic Acute |
Associate
|
37478796 |
| Leukemia Myeloid |
Associate
|
12555219 |
| Leukemia Myeloid Acute |
Associate
|
12461747, 16630339, 22846743, 30760869, 31648321, 37400142, 38048593, 38429501, 7662954, 9616163 |
| Leukemia T Cell |
Associate
|
10997963 |
| Lymphoma T Cell |
Associate
|
30914738, 36000950 |
| Meningioma |
Associate
|
21804547, 24755950 |
| Neoplasms |
Associate
|
10554802, 24755950, 26439302, 30914738, 37019972 |
| Obesity |
Associate
|
26480920 |
| Ovarian Neoplasms |
Associate
|
23535730, 24755950 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
23673860 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
15774621, 20065082, 20494936, 23673860, 24367274, 36000950 |
| Primary Ovarian Insufficiency |
Associate
|
39358799 |
| Sarcoma Myeloid |
Associate
|
10997963, 36916780 |
|