|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Barrett esophagus |
Barrett's esophagus |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Gastroesophageal Reflux Disease |
Gastroesophageal reflux disease |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acrospiroma |
Associate
|
29079171, 37505808 |
| Adenocarcinoma |
Associate
|
24121790, 25447851, 34505128, 35766871 |
| Alzheimer Disease |
Associate
|
27094739 |
| Anxiety |
Associate
|
29225348 |
| Astrocytoma |
Associate
|
22805177 |
| Barrett Esophagus |
Associate
|
25447851, 34505128, 35766871 |
| Brain Diseases |
Associate
|
22805177 |
| Breast Neoplasms |
Associate
|
30380176, 31978326 |
| Carcinoma Hepatocellular |
Associate
|
25300488 |
| Carcinoma Mucoepidermoid |
Associate
|
15269296, 19164581, 19749740, 20625861, 23018873, 23035786, 24893972, 26503699, 27340278, 28438292, 31351495, 32221865, 36366450, 39332274, 39888274 |
| Central Nervous System Vascular Malformations |
Associate
|
22805177 |
| Chronobiology Disorders |
Associate
|
31153815 |
| Depressive Disorder Major |
Associate
|
27002284 |
| Diabetes Mellitus |
Associate
|
31153815 |
| Glioma Subependymal |
Associate
|
22805177 |
| Inflammation |
Associate
|
22805177 |
| Kidney Neoplasms |
Associate
|
22685542 |
| Lung Neoplasms |
Associate
|
20010869, 25465874 |
| Mental Disorders |
Associate
|
23925723, 31878957 |
| Mucoepidermoid Tumor |
Associate
|
19827123 |
| Multiple Myeloma |
Associate
|
22556409 |
| Neoplasm Invasiveness |
Stimulate
|
35920319 |
| Neoplasms |
Associate
|
23018873, 26676751, 28539123, 29079171, 29533464, 34011559, 35751643, 38184586 |
| Neoplasms Adipose Tissue |
Associate
|
23925723 |
| Nerve Degeneration |
Associate
|
37541638 |
| Obesity |
Associate
|
23925723, 27002284, 31153815, 31878957, 34588385 |
| Salivary Gland Diseases |
Associate
|
33832503 |
| Salivary Gland Neoplasms |
Associate
|
15961999, 19827123, 20010869, 30380176 |
| Sarcoma |
Associate
|
29533464 |
| Sarcoma Small Cell |
Associate
|
29533464 |
| Squamous Intraepithelial Lesions |
Associate
|
35920319 |
| Thoracic Neoplasms |
Stimulate
|
20010869 |
| Triple Negative Breast Neoplasms |
Associate
|
26676751 |
| Tuberous Sclerosis |
Associate
|
22805177 |
| Weight Gain |
Associate
|
23925723, 31878957 |
|