|
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 |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenomatous Polyps |
Associate
|
22020530 |
| Bone Neoplasms |
Associate
|
23199169 |
| Breast Neoplasms |
Associate
|
11747329, 19015639, 19819984, 22184117, 22194601, 31795965 |
| Breast Neoplasms |
Inhibit
|
24489730 |
| Calcinosis Cutis |
Stimulate
|
23199169 |
| Calcinosis Cutis |
Associate
|
28708932 |
| Carcinogenesis |
Associate
|
19525223, 27449031 |
| Carcinoma Hepatocellular |
Associate
|
19491197 |
| Carcinoma Renal Cell |
Associate
|
37388742 |
| CD59 Deficiency |
Associate
|
29466736 |
| Chordoma |
Associate
|
23533570 |
| Choriocarcinoma |
Associate
|
15507671 |
| Colitis Ulcerative |
Associate
|
21274674 |
| Colorectal Neoplasms |
Associate
|
21274674, 22020530, 27540971, 28708932 |
| Diabetic Nephropathies |
Associate
|
34732690 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
26510908 |
| Hydatidiform Mole |
Associate
|
15507671 |
| Laryngeal Neoplasms |
Associate
|
34299935 |
| Leukemia Myeloid Acute |
Associate
|
34207065, 35995769 |
| Leukemia Promyelocytic Acute |
Associate
|
18318772 |
| Lymphatic Metastasis |
Inhibit
|
26510908 |
| Neoplasm Metastasis |
Associate
|
22194601, 26510908 |
| Neoplasms |
Associate
|
15389252, 20546602, 20676143, 22140553, 22184117, 24489730, 27540971, 27793057, 28708932, 29133799, 31795965, 32494608, 34299935, 37388742 |
| Neoplasms |
Inhibit
|
18318772, 19015639, 19491197, 19525223, 19819984, 21274674, 22194601, 24067369, 24252461, 26510908, 27449031, 27935866, 32457453, 35787399, 9374372 |
| Neoplasms Germ Cell and Embryonal |
Associate
|
15149548 |
| Neuroblastoma |
Associate
|
20546602 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
24252461 |
| Nonseminomatous germ cell tumor |
Associate
|
12495446 |
| Osteosarcoma |
Associate
|
19525223 |
| Ovarian Neoplasms |
Associate
|
11238060, 18757082 |
| Polyposis Syndrome Hereditary Mixed 1 |
Associate
|
18313025 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Inhibit
|
18318772 |
| Sarcoma |
Associate
|
37388742 |
| Stomach Neoplasms |
Inhibit
|
21533545 |
| Thyroid Cancer Papillary |
Associate
|
27793057 |
| Thyroid Neoplasms |
Inhibit
|
27793057 |
| Triple Negative Breast Neoplasms |
Associate
|
25068292 |
| Urinary Bladder Neoplasms |
Associate
|
22140553 |
| Uterine Cervical Dysplasia |
Associate
|
12773202 |
| Uterine Cervical Neoplasms |
Associate
|
12773202 |
| Uveal melanoma |
Inhibit
|
27449031 |
| Wilms Tumor |
Associate
|
35436013 |
|