|
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 (estrogen-receptor negative), Postmenopausal breast cancer |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer, Breast cancer (early onset) |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer (PheCode 153), ICD10 C18, C19, C20: colorectal cancer, Early onset colorectal cancer, Colorectal cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes or prostate cancer (pleiotropy) |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer (late onset), Prostate cancer, Prostate cancer (early onset) |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenoma |
Associate
|
25562676 |
| Breast Neoplasms |
Associate
|
24338422 |
| Colorectal Neoplasms |
Associate
|
24338422, 25315430, 29727690, 35812248 |
| Colorectal Neoplasms |
Stimulate
|
34934770 |
| Esophageal Neoplasms |
Associate
|
30763293 |
| Leukemia Myeloid Acute |
Associate
|
31271156, 32436945 |
| Neoplasms |
Associate
|
30287838, 30763293, 33551988, 34934770 |
| Prostatic Neoplasms |
Associate
|
19562729, 21372204, 24581739, 26934861, 28463958 |
| Stomach Neoplasms |
Associate
|
25046748 |
| Thyroid Cancer Papillary |
Associate
|
25562676, 33551988 |
| Thyroid Neoplasms |
Associate
|
25562676 |
|