|
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 |
N/A |
N/A |
GWAS |
| Astrocytoma |
Pilocytic astrocytoma |
N/A |
N/A |
GWAS |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Diabetes |
Diabetic kidney disease in type 2 diabetes (ESRD vs. no ESRD), Type 2 diabetes |
N/A |
N/A |
GWAS |
| Gout |
Gout |
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 |
| Chromosome 5q Deletion Syndrome |
Associate
|
30514321 |
| Chromosome Aberrations |
Associate
|
8506309 |
| Death |
Associate
|
33668731 |
| Genetic Diseases Inborn |
Associate
|
33419897 |
| Hyperplasia |
Stimulate
|
20805992 |
| Hypomagnesemia primary |
Associate
|
33668731 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
37266442 |
| Leukemia |
Associate
|
17726105, 17875318, 20656931, 29164580, 36585787 |
| Leukemia Biphenotypic Acute |
Associate
|
22174154, 22615413, 24769646, 29477140, 29649994, 30514321, 30646906, 35119307 |
| Leukemia Megakaryoblastic Acute |
Associate
|
26215111 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
20082691 |
| Leukemia Myeloid Acute |
Associate
|
16630339, 18931459, 21474990, 21900057, 22846743, 23091311, 24150221, 24769646, 26419938, 29477140, 30381403, 30387535, 33375773, 33419897, 33469688, 34120595, 34862757, 34964255, 35119307, 8668146 View all (5 more) |
| Nasopharyngeal Carcinoma |
Associate
|
30514321, 30646906 |
| Neoplasm Metastasis |
Associate
|
33668731 |
| Neoplasms |
Associate
|
35409252, 37019972 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
25843568 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
22845170, 29649994, 30514321, 30646906, 36843114 |
| Prostatic Neoplasms |
Associate
|
29164580 |
| Thyroid Neoplasms |
Associate
|
30272326 |
|