|
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 |
| Diabetes |
Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24), Diabetes, Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes |
N/A |
N/A |
GWAS |
| Movement Disorders |
movement disorder |
N/A |
N/A |
GenCC |
| Ovarian cancer |
Epithelial ovarian cancer |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
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
|
30053869 |
| Adenocarcinoma of Lung |
Associate
|
37965333, 40482589 |
| Adenoma |
Associate
|
30053869 |
| Asthma |
Associate
|
28599074 |
| Autism Spectrum Disorder |
Associate
|
24650168 |
| Bipolar Disorder |
Inhibit
|
17553960 |
| Brain Neoplasms |
Associate
|
29316219 |
| Breast Neoplasms |
Associate
|
21536917, 22952044 |
| Carcinoma Hepatocellular |
Associate
|
12079511 |
| Carcinoma Non Small Cell Lung |
Associate
|
27557513, 37848553 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
21319215 |
| Esophageal Neoplasms |
Associate
|
33794814 |
| Glioblastoma |
Associate
|
29316219 |
| Hypoglycemia |
Associate
|
33353041 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
12079511 |
| Liver Neoplasms |
Associate
|
12079511 |
| Lung Neoplasms |
Associate
|
25446087, 27655370, 37965333 |
| Neoplasm Metastasis |
Associate
|
37848553 |
| Neoplasms |
Associate
|
21183761, 22952044, 23287123, 26250366, 27401493, 28817404, 29316219, 30179902, 31702654, 32557980, 33987888, 35125107, 35568949, 35639915, 35710690, 37202095, 38050902 View all (2 more) |
| Neurilemmoma |
Associate
|
19363472, 23287123 |
| Neurofibrosarcoma |
Associate
|
19363472 |
| Neuroma Acoustic |
Associate
|
31309113 |
| Ovarian Diseases |
Associate
|
27557513 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
34048198 |
| Sarcoma Ewing |
Stimulate
|
23287123 |
| Sarcoma Synovial |
Associate
|
21319215, 23287123, 23929265, 24436244, 26434872, 27120803, 27401493, 27568668 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
33000257 |
| Stomach Neoplasms |
Associate
|
31050210 |
|