|
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 |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Neuroticism |
Neuroticism |
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 |
Associate
|
15736446 |
| Adenocarcinoma Mucinous |
Associate
|
27062033 |
| Adenocarcinoma of Lung |
Associate
|
29327712 |
| Adenomatoid Tumor |
Associate
|
19543245 |
| Alzheimer Disease |
Associate
|
24028428 |
| Atrial Fibrillation |
Associate
|
29940585 |
| Azoospermia |
Associate
|
38193226 |
| Breast Neoplasms |
Associate
|
24322014 |
| Carcinogenesis |
Associate
|
18214032, 19435792, 31671889 |
| Carcinoma |
Associate
|
24262018 |
| Carcinoma |
Stimulate
|
33432559 |
| Carcinoma Basal Cell |
Associate
|
24262018 |
| Carcinoma Ductal Breast |
Associate
|
24262018 |
| Carcinoma Medullary |
Associate
|
24437456 |
| Carcinoma Pancreatic Ductal |
Associate
|
33432559, 35963640 |
| Carcinoma Papillary |
Associate
|
29785016 |
| Carcinoma Renal Cell |
Associate
|
12610103, 17361207 |
| Carcinoma Renal Cell |
Inhibit
|
35417384 |
| Carcinoma Squamous Cell |
Associate
|
16415794 |
| Cognition Disorders |
Associate
|
30549027 |
| Colitis Ulcerative |
Associate
|
33600772 |
| Colonic Neoplasms |
Associate
|
18214032, 8898855 |
| Colorectal Neoplasms |
Associate
|
18214032, 21629658, 27062033, 37664836 |
| Coronary Artery Disease |
Associate
|
40026415 |
| Cysts |
Associate
|
29197096 |
| Desmoid disease hereditary |
Associate
|
22531174 |
| Down Syndrome |
Associate
|
29509279, 35623352 |
| Drug Related Side Effects and Adverse Reactions |
Inhibit
|
19435792 |
| Endodermal Sinus Tumor |
Associate
|
26076062 |
| Fasciitis |
Associate
|
22531174 |
| Fibromatosis Aggressive |
Associate
|
22531174 |
| Focal Cortical Dysplasia |
Associate
|
34301297 |
| Focal cortical dysplasia of Taylor |
Associate
|
34301297 |
| Gastrointestinal Stromal Tumors |
Associate
|
12610103 |
| Glomerulosclerosis Focal Segmental |
Stimulate
|
28158993 |
| Granulosa Cell Tumor |
Associate
|
26076062 |
| Granulosa cell tumor of the ovary |
Associate
|
12610103 |
| Hirschsprung Disease |
Inhibit
|
15220363 |
| Hirschsprung Disease |
Associate
|
24294384, 28139502 |
| Histiocytoma Benign Fibrous |
Associate
|
22531174 |
| Histiocytoma Malignant Fibrous |
Associate
|
22531174 |
| Holoprosencephaly |
Associate
|
19234067 |
| Inflammation |
Stimulate
|
37664836 |
| Leiomyosarcoma |
Associate
|
12610103 |
| Leukoencephalopathies |
Associate
|
16776375 |
| Lymphoma Non Hodgkin |
Associate
|
32533757 |
| Malformations of Cortical Development |
Associate
|
30549027 |
| Mesothelioma |
Associate
|
11570906, 15736446, 16056246, 16415794, 16554731, 17361207, 19435792, 23041828, 26848772 |
| Mesothelioma Malignant |
Associate
|
12194995, 15736446, 16206294, 17361207, 18098206, 22011651, 22531174, 28922567, 30545133, 31671889, 32727552, 33432559, 36557076, 38038422, 38203360, 38280040 View all (1 more) |
| Mesothelioma Malignant |
Stimulate
|
25400801 |
| Myelodysplastic Syndromes |
Associate
|
32929772 |
| Myxoma |
Associate
|
14633612 |
| Necrosis |
Associate
|
16206294 |
| Neoplasm Metastasis |
Associate
|
15736446, 20190734, 32533757 |
| Neoplasms |
Associate
|
16206294, 17106529, 19028702, 22531174, 23011824, 24594996, 28544176, 32533757, 32727552, 32929772, 33534223, 35963640, 36335378, 36813116, 37406360, 37584555, 37664836 View all (2 more) |
| Neoplasms Cystic Mucinous and Serous |
Associate
|
16056246, 32880620 |
| Nephrosis Lipoid |
Associate
|
28158993 |
| Non Muscle Invasive Bladder Neoplasms |
Associate
|
27626805 |
| Oligospermia |
Stimulate
|
38193226 |
| Ovarian Neoplasms |
Associate
|
23011824 |
| Pancreatic Neoplasms |
Associate
|
33432559 |
| Parkinson Disease |
Associate
|
36952070, 40715263 |
| Pelvic Inflammatory Disease |
Associate
|
20190734 |
| Peritoneal Diseases |
Associate
|
33432559 |
| Pleural Effusion Malignant |
Associate
|
18098206 |
| Poroma |
Associate
|
24322014 |
| Sarcoma |
Associate
|
12946229, 17361207 |
| Sarcoma Synovial |
Associate
|
11411458, 17106529 |
| Solitary Fibrous Tumors |
Associate
|
22531174 |
|