|
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 |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenoma |
Associate
|
24243398 |
| Azoospermia |
Associate
|
33621950 |
| Breast Neoplasms |
Inhibit
|
18698156, 22569290 |
| Carcinogenesis |
Associate
|
24243398 |
| Carcinoma Hepatocellular |
Associate
|
26517514, 29907144, 30043858 |
| Carcinoma Hepatocellular |
Inhibit
|
35808817 |
| Carcinoma Renal Cell |
Associate
|
26943038 |
| Colorectal Neoplasms |
Associate
|
19750230 |
| Colorectal Neoplasms |
Inhibit
|
24243398 |
| Craniosynostoses |
Associate
|
33944996 |
| Developmental Disabilities |
Associate
|
33944996, 35468861 |
| Epilepsy |
Associate
|
33944996 |
| Glioblastoma |
Associate
|
35955624 |
| Glioma |
Associate
|
18698156, 35955624 |
| Hypersensitivity Delayed |
Associate
|
33944996 |
| Intellectual Disability |
Associate
|
33944996 |
| Language Development Disorders |
Associate
|
33944996 |
| Language Disorders |
Associate
|
33944996 |
| Learning Disabilities |
Associate
|
33944996 |
| Leukemia |
Inhibit
|
24454811 |
| Lymphatic Metastasis |
Inhibit
|
22569290 |
| Lymphoma |
Associate
|
30043858 |
| Lymphoma Non Hodgkin |
Associate
|
35955624 |
| Machado Joseph Disease |
Associate
|
34871736 |
| Mental Disorders |
Associate
|
33944996 |
| Neoplasm Metastasis |
Inhibit
|
26517514 |
| Neoplasms |
Associate
|
18698156, 30043858, 31792669, 35768791 |
| Neoplasms |
Inhibit
|
18953434, 20950435, 22294723, 22569290, 22834704, 24243398, 24454811, 25247294, 25825869, 26245651, 26517514, 26895110, 26943038, 29907144, 33915956, 35768791, 35808817, 35955624 View all (3 more) |
| Neuroblastoma |
Inhibit
|
20950435, 25825869 |
| Neuroblastoma |
Associate
|
22294723, 22328561, 25247294, 26245651, 26895110, 33915956, 35768791, 35955624 |
| Ovarian Diseases |
Associate
|
31792669 |
| Ovarian Neoplasms |
Associate
|
18953434 |
| Prostatic Neoplasms |
Associate
|
21147910 |
| Seizures |
Associate
|
33944996 |
| Spasms Infantile |
Associate
|
33944996 |
| Stomach Neoplasms |
Inhibit
|
19840376 |
| Stomach Neoplasms |
Associate
|
30043858 |
|