|
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 |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (confirmatory factor analysis Factor 12), Hypertension |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Bone Diseases |
Associate
|
37040171 |
| Brachydactyly type A1 |
Associate
|
28187132 |
| Breast Neoplasms |
Associate
|
37040171 |
| Colitis |
Associate
|
33040455 |
| Colorectal Neoplasms |
Associate
|
23536887, 29999571, 30035127, 30115016 |
| Endometrial Neoplasms |
Inhibit
|
36745330 |
| Ermine phenotype |
Associate
|
28187132 |
| Fibroma Ossifying |
Associate
|
34188021 |
| Galactosemias |
Associate
|
28209808, 32677771, 33593824 |
| Glomerulonephritis IGA |
Associate
|
17228361, 17315006, 19357720, 20959392, 26063800, 26125729, 28209808, 32945407, 33593824 |
| Glomerulonephritis IGA |
Inhibit
|
22362909, 35987175 |
| Head and Neck Neoplasms |
Associate
|
29930379 |
| Heart Diseases |
Inhibit
|
31633299 |
| Hematologic Diseases |
Associate
|
28187132 |
| Inflammatory Bowel Diseases |
Associate
|
37306210 |
| Intestinal Diseases |
Associate
|
37306210 |
| Kidney Diseases |
Associate
|
16238683 |
| Leukodystrophy Hypomyelinating 4 |
Associate
|
37216524 |
| Neoplasm Metastasis |
Associate
|
30035127, 37040171 |
| Neoplasms |
Associate
|
20959392, 26063800, 28187132, 29930379, 29999571, 30035127, 30115016 |
| Pancreatic Neoplasms |
Associate
|
34675409 |
| Pancreatitis |
Associate
|
37306210 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
29930379 |
| Tn Syndrome |
Associate
|
20959392 |
|