|
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 (prognosis) |
N/A |
N/A |
GWAS |
| Cleft Lip With Or Without Cleft Palate |
Cleft lip with or without cleft palate |
N/A |
N/A |
GWAS |
| Congenital Mirror Movements |
familial congenital mirror movements |
N/A |
N/A |
GenCC |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Multiple Congenital Anomalies |
multiple congenital anomalies/dysmorphic syndrome |
N/A |
N/A |
GenCC |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
| Oligodendroglioma |
Oligodendroglioma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate
|
20007677, 38033740 |
| Alzheimer Disease |
Associate
|
32711556 |
| Aortic Aneurysm Thoracic |
Associate
|
31035427 |
| Arthritis Rheumatoid |
Inhibit
|
19822088 |
| Atherosclerosis |
Associate
|
32151395, 32317107 |
| Bacterial Infections |
Associate
|
40275124 |
| beta Thalassemia |
Stimulate
|
33715293 |
| Bipolar Disorder |
Associate
|
40597885 |
| Brain Neoplasms |
Associate
|
24647424 |
| Breast Neoplasms |
Associate
|
23319801, 27378792 |
| Carcinogenesis |
Associate
|
24647424, 27031829, 35489200 |
| Carcinoma Hepatocellular |
Stimulate
|
27031829 |
| Carcinoma Hepatocellular |
Associate
|
27420970 |
| Carcinoma Non Small Cell Lung |
Stimulate
|
24647424 |
| Chemical and Drug Induced Liver Injury |
Stimulate
|
27031829 |
| Cleft Lip |
Associate
|
35191549 |
| Cleft Palate |
Associate
|
23512105, 27734840, 30638414, 31122291, 35191549 |
| Colorectal Neoplasms |
Associate
|
18054557, 21893118, 26039999, 34470826, 37568074, 39261771 |
| Colorectal Neoplasms |
Inhibit
|
35489200 |
| Coronary Artery Disease |
Associate
|
27727089 |
| Diabetes Gestational |
Associate
|
30897795 |
| Diabetes Mellitus Type 2 |
Associate
|
36297056 |
| Diabetic Foot |
Associate
|
40176590 |
| Diabetic Nephropathies |
Associate
|
38033740 |
| Dyslexia |
Associate
|
27734840 |
| Fatty Liver |
Associate
|
29985430 |
| Fibrosis |
Stimulate
|
27031829 |
| Glioblastoma |
Associate
|
21980448, 27651158 |
| Glycosuria Renal |
Associate
|
38033740 |
| Graft vs Host Disease |
Associate
|
26039999 |
| Hepatitis C |
Associate
|
27031829 |
| Hodgkin Disease |
Associate
|
40235169 |
| Huntington Disease |
Associate
|
26651603 |
| Hypoxia |
Stimulate
|
36297056 |
| Inflammation |
Associate
|
23666553, 24528886, 36297056, 40176590 |
| Insulin Resistance |
Associate
|
36297056 |
| Kidney Diseases |
Associate
|
33715293 |
| Kidney Neoplasms |
Associate
|
23526078 |
| Leukemia Biphenotypic Acute |
Associate
|
35974411 |
| Leukemia Myeloid Acute |
Associate
|
37038247 |
| Liver Cirrhosis |
Stimulate
|
27031829 |
| Lung Neoplasms |
Associate
|
35765995 |
| Lymphatic Metastasis |
Associate
|
39261771 |
| Macular Degeneration |
Associate
|
25950802 |
| Medulloblastoma |
Associate
|
24812271 |
| Melanoma |
Associate
|
19940358, 34470826, 36361539 |
| Mitochondrial Diseases |
Associate
|
32711556 |
| Neoplasm Metastasis |
Associate
|
23666553, 24528886, 37568074, 39261771 |
| Neoplasms |
Associate
|
19349462, 21789787, 23526078, 23666553, 24528886, 24812271, 25001177, 26039999, 27031829, 27378792, 36361539, 36587397, 37038247 |
| Neoplasms |
Stimulate
|
24647424, 34470826 |
| Neoplasms |
Inhibit
|
30917865 |
| Neoplasms Adipose Tissue |
Associate
|
36297056 |
| Nerve Degeneration |
Associate
|
36751943 |
| Neuroblastoma |
Associate
|
19349462 |
| Obesity |
Associate
|
36297056 |
| Orofacial Cleft 1 |
Associate
|
28489749, 35191549 |
| Osteoarthritis |
Inhibit
|
19822088 |
| Otofaciocervical Syndrome |
Associate
|
35191549 |
| Ovarian Neoplasms |
Stimulate
|
21789787 |
| Ovarian Neoplasms |
Associate
|
37337170 |
| Pancreatic Neoplasms |
Associate
|
25001177 |
| Parkinson Disease |
Associate
|
36751943 |
| Plasmablastic Lymphoma |
Associate
|
40235169 |
| Prostatitis |
Associate
|
23666553 |
| Semicircular Canal Dehiscence |
Associate
|
22779713 |
| Urinary Bladder Neoplasms |
Associate
|
24528886, 32141538 |
| Weight Loss |
Inhibit
|
36297056 |
| Xanthomatosis |
Associate
|
40275124 |
|