|
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 |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Inhibit
|
32341333 |
| Aicardi Syndrome |
Associate
|
26011570 |
| Anophthalmia with pulmonary hypoplasia |
Associate
|
29952716 |
| Breast Neoplasms |
Associate
|
19647222, 23702728, 25542038, 26011570, 28196852, 28223411, 30305115, 31315058, 31872854 |
| Carcinogenesis |
Inhibit
|
32341333 |
| Carcinoma Basal Cell |
Associate
|
32085745 |
| Carcinoma Hepatocellular |
Associate
|
27062697 |
| Carcinoma Intraductal Noninfiltrating |
Associate
|
24634376 |
| Carcinoma Pancreatic Ductal |
Associate
|
29952716 |
| Carcinoma Squamous Cell |
Associate
|
24500884 |
| Colorectal Neoplasms |
Associate
|
28915933, 28936799 |
| Gallbladder Neoplasms |
Associate
|
33879096 |
| Huntington Disease Like 2 |
Associate
|
32085745 |
| Laryngeal Neoplasms |
Associate
|
22895072 |
| Leukemia |
Associate
|
25736313, 29343273 |
| Leukemia Myeloid |
Associate
|
27342972 |
| Leukemia Myeloid Acute |
Associate
|
25736313, 27342972, 29343273, 29415082, 30876449 |
| Lung Neoplasms |
Associate
|
32341333, 38060494 |
| Neoplasm Metastasis |
Inhibit
|
29516642 |
| Neoplasms |
Inhibit
|
19647222, 21224358, 24070612, 24420152, 29516642, 32341333 |
| Neoplasms |
Associate
|
22895072, 24928944, 28590426, 28936799, 29343273, 29415082, 29952716, 31315058, 33879096 |
| Ovarian Neoplasms |
Associate
|
19647222 |
| Ovarian Neoplasms |
Inhibit
|
24070612 |
| Prostatic Neoplasms |
Inhibit
|
21224358 |
| Prostatic Neoplasms |
Associate
|
25189356 |
| Triple Negative Breast Neoplasms |
Associate
|
24420152, 26806567, 28590426 |
| Uterine Cervical Neoplasms |
Inhibit
|
29516642 |
|