| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| Acquired long QT syndrome |
Conflicting classifications of pathogenicity |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acute myeloid leukemia |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ALZHEIMER DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atrial fibrillation |
Conflicting classifications of pathogenicity; not provided |
ClinVar
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| ATRIAL FIBRILLATION, FAMILIAL 1 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 10 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 11 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 12 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 13 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 14 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 15 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 2 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 3 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atrial fibrillation, familial, 4 |
Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign |
ClinVar
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| ATRIAL FIBRILLATION, FAMILIAL, 5 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 6 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 7 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 8 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION, FAMILIAL, 9 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiac arrhythmia |
Conflicting classifications of pathogenicity; risk factor |
ClinVar
Disgenet
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| CARDIOMYOPATHY, DILATED |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOVASCULAR DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cardiovascular phenotype |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign; risk factor |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC ISCHEMIC HEART DISEASE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CHRONIC OBSTRUCTIVE PULMONARY DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERIOSCLEROSIS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERY DISEASE |
— |
CTD, GWAS catalog
CTD, GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ATHEROSCLEROSIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY HEART DISEASE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial atrial fibrillation |
Uncertain significance |
ClinVar
GWAS catalog
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| FAMILIAL LONG QT SYNDROME |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEART DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEREDITARY ATRIAL FIBRILLATION |
— |
Orphanet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertrophic cardiomyopathy |
Conflicting classifications of pathogenicity |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| KCNE2-related disorder |
Conflicting classifications of pathogenicity; risk factor |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Long QT syndrome |
Conflicting classifications of pathogenicity; risk factor; Uncertain significance; Likely benign |
ClinVar
CTD, ClinGen, ClinVar, Disgenet
CTD, ClinGen, ClinVar, Disgenet
CTD, ClinGen, ClinVar, Disgenet
CTD, ClinGen, ClinVar, Disgenet
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Long QT syndrome 6 |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign; risk factor |
ClinVar
CTD, ClinVar, Disgenet, GWAS catalog, HPO
CTD, ClinVar, Disgenet, GWAS catalog, HPO
CTD, ClinVar, Disgenet, GWAS catalog, HPO
CTD, ClinVar, Disgenet, GWAS catalog, HPO
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Long QT syndrome 6, acquired, susceptibility to |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Long QT syndrome, drug-associated |
Conflicting classifications of pathogenicity |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MIGRAINE DISORDER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL INFARCTION |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MYOCARDIAL ISCHEMIA |
— |
Disgenet, GWAS catalog
Disgenet, GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Primary dilated cardiomyopathy |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Primary familial hypertrophic cardiomyopathy |
Conflicting classifications of pathogenicity |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ROMANO-WARD SYNDROME |
— |
Disgenet, Orphanet
Disgenet, Orphanet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VENTRICULAR FIBRILLATION |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |