|
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 |
| Asthma |
Asthma in any disease, Nonatopic asthma, Atopic asthma |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes or schizophrenia (pleiotropy), Type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24) |
N/A |
N/A |
GWAS |
| Hyperopia |
Hyperopia |
N/A |
N/A |
GWAS |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
We performed a kinome-scale CRISPR/Cas9 screen and identified cyclin-dependent kinase 12 (CDK12) as being conservatively required for PCa cell survival. Suppression of CDK12 by the covalent inhibitor THZ531 led to an obvious anti-PCa effect. |
34315855 |
CBGDA |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
32534699 |
| Adenocarcinoma of Lung |
Associate
|
30617155 |
| Biliary Tract Neoplasms |
Associate
|
35583261 |
| Breast Neoplasms |
Associate
|
24395524, 27251275, 28334900, 29133620, 32638235, 36404592, 38335502, 39264897, 40623188 |
| Breast Neoplasms Male |
Associate
|
33964913 |
| Calcinosis Cutis |
Associate
|
32220891 |
| Carcinogenesis |
Associate
|
28334900 |
| Carcinoma Non Small Cell Lung |
Associate
|
28230015, 38132164 |
| Chordoma |
Associate
|
30664779 |
| Colorectal Neoplasms |
Associate
|
34289372, 35567913, 36254394 |
| DNA Virus Infections |
Associate
|
29906450, 32534699, 32634759 |
| Gallbladder Neoplasms |
Associate
|
33328484 |
| Genetic Diseases Inborn |
Associate
|
31874108 |
| Heart Defects Congenital |
Associate
|
37404133 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
28334900, 40623188 |
| Hypoplastic Left Heart Syndrome |
Associate
|
37404133 |
| Leukemia |
Associate
|
35253392 |
| Leukemia Myeloid Acute |
Associate
|
35253392 |
| Lung Neoplasms |
Associate
|
28230015, 33407425 |
| Lymphatic Metastasis |
Associate
|
33441952 |
| Medulloblastoma |
Associate
|
29984917, 37599362 |
| Melanoma |
Associate
|
36309522 |
| Microsatellite Instability |
Associate
|
34562615 |
| Multiple Myeloma |
Associate
|
32060401 |
| Neoplasm Metastasis |
Associate
|
28230015, 31640893, 32534699, 36254394, 37828555 |
| Neoplasms |
Associate
|
22544022, 24395524, 25712099, 28334900, 29906450, 29996110, 31040255, 31292271, 32234758, 32988971, 33038052, 33511732, 34289372, 34562615, 35183184, 35583261, 35911441, 37164450, 37202753, 37828555, 38049758, 38417742, 39264897, 40421962, 40623188 View all (10 more) |
| Neoplasms |
Inhibit
|
26189575, 30531873, 32534699, 34479548 |
| Ovarian Diseases |
Associate
|
34562615 |
| Ovarian Neoplasms |
Associate
|
24554720, 25429106, 25712099, 27905519, 31292271, 32317181, 32639993, 34562615, 37202753 |
| Ovarian Neoplasms |
Inhibit
|
40623188 |
| Pancreatic Neoplasms |
Associate
|
31917448, 35583261 |
| Prostatic Neoplasms |
Associate
|
29906450, 31134918, 31292271, 31300540, 31640893, 31874108, 31972048, 32234758, 32317181, 32988971, 33214693, 34315855, 34562615, 35871039, 36129942, 36883553, 37477913, 37589230, 37706534, 37828555 View all (5 more) |
| Prostatic Neoplasms Castration Resistant |
Associate
|
29906450, 31748536, 31874108, 32086346, 32988971, 33690902, 33906368, 35183184, 35871039, 36358026, 39293514 |
| Prostatitis |
Associate
|
31292271, 32317181 |
| Recombinant chromosome 8 syndrome |
Associate
|
24554720, 32639993, 35643464 |
| Sarcoma Ewing |
Associate
|
29358035 |
| Stomach Neoplasms |
Associate
|
31523177, 33441952 |
| Stomach Neoplasms |
Inhibit
|
32534699 |
| Triple Negative Breast Neoplasms |
Associate
|
27491809, 31715127, 35938508, 38049758 |
| Turcot syndrome |
Associate
|
34562615 |
| Urethral Neoplasms |
Associate
|
33038052, 37986697 |
|