|
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 |
| cardiac arrhythmia |
Cardiac arrhythmia |
N/A |
N/A |
ClinVar |
| Long QT Syndrome |
long qt syndrome, Long QT syndrome |
N/A |
N/A |
ClinVar, GWAS |
| Nephrotic Syndrome |
Nephrotic syndrome, type 22, nephrotic syndrome, type 22 |
N/A |
N/A |
ClinVar, GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Arrhythmias Cardiac |
Associate
|
19305409, 19822806, 20538168, 21685173, 22682551 |
| Autism Spectrum Disorder |
Associate
|
20602773 |
| Bipolar Disorder |
Associate
|
16146415 |
| Carcinogenesis |
Associate
|
27869735 |
| Cardiovascular Diseases |
Associate
|
26600494 |
| Cognition Disorders |
Associate
|
28755516 |
| Coronary Artery Disease |
Associate
|
21685173 |
| Coronary Disease |
Associate
|
23171141 |
| Death |
Associate
|
26146998 |
| Death Sudden |
Associate
|
19822806, 21685173, 23171141, 30878014 |
| Death Sudden Cardiac |
Associate
|
19180230, 19305409, 19643915, 20722683, 21658281, 21685173, 23347024, 26600494, 31747862 |
| Diabetes Mellitus |
Associate
|
18235038, 19943157, 23228162 |
| Diabetes Mellitus Type 2 |
Associate
|
19111066, 19943157, 20305679, 20722683, 34772419 |
| Diabetic Foot |
Associate
|
28755516, 38258807 |
| Foot Ulcer |
Associate
|
28755516 |
| Glioma |
Associate
|
27869735, 31171914 |
| Glioma of Brain Familial |
Inhibit
|
27869735 |
| Heart Arrest |
Associate
|
19822806, 30878014, 31398660 |
| Insulin Resistance |
Associate
|
20305679, 34772419 |
| Long QT Syndrome |
Associate
|
19305408, 19822806, 20538168, 22682551, 22912591, 23347024, 27988371, 28720088, 31398660, 32429735 |
| Mental Disorders |
Associate
|
16146415, 20602773 |
| Multiple Amputations Traumatic |
Associate
|
23228162 |
| Multiple Myeloma |
Associate
|
28671047 |
| Neoplasms |
Inhibit
|
27869735 |
| Neoplasms |
Associate
|
28222762, 28671047, 31171914 |
| Obsessive Compulsive Disorder |
Associate
|
20602773 |
| Peripheral Nervous System Diseases |
Associate
|
23228162 |
| Post Acute COVID 19 Syndrome |
Associate
|
25737393 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
28416970 |
| Romano Ward Syndrome |
Associate
|
30878014 |
| Schizophrenia |
Associate
|
16146415, 19255043, 20602773, 20638248, 32987141 |
| Tachycardia Ventricular |
Associate
|
28827735 |
|