| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ACROMEGALOID FACIAL APPEARANCE SYNDROME |
— |
GWAS catalog
|
23307537 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Arrhythmogenic right ventricular cardiomyopathy |
Conflicting classifications of pathogenicity; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 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 |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; not provided; Benign |
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
|
17245405 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| 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 |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| 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 |
| Breast ductal adenocarcinoma |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Brugada syndrome |
Conflicting classifications of pathogenicity |
ClinVar
ClinGen, GenCC, Orphanet
ClinGen, GenCC, Orphanet
|
24439875 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| CANTU SYNDROME |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
|
22610116, 28842488, 22608503, 22610116 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHIES |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, DILATED |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, DILATED, 1O |
— |
CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, FAMILIAL IDIOPATHIC |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Conduction disorder of the heart |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL EPICANTHUS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DESBUQUOIS SYNDROME |
— |
CTD
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DILATED CARDIOMYOPATHY |
— |
ClinGen, GWAS catalog
|
15034580, 24648545, 31575858, 31948008 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dilated cardiomyopathy 1A |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dilated Cardiomyopathy, Dominant |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIAL NEOPLASMS |
— |
CTD
|
23104009 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ENDOMETRIOSIS |
— |
CTD, Disgenet
CTD, Disgenet
|
20864642 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPILEPSY |
— |
GWAS catalog
|
40465716 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial atrial fibrillation |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FAMILIAL DILATED CARDIOMYOPATHY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FAMILIAL ISOLATED DILATED CARDIOMYOPATHY |
— |
GWAS catalog, Orphanet
GWAS catalog, Orphanet
|
15034580, 15034580 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Conflicting classifications of pathogenicity; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GOUT |
— |
GWAS catalog
|
22179738 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hepatocellular carcinoma |
Conflicting classifications of pathogenicity; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEREDITARY ATRIAL FIBRILLATION |
— |
Orphanet
|
17245405 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME |
— |
GWAS catalog
|
23307537 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hypertrophic cardiomyopathy |
Uncertain significance |
ClinVar
Disgenet
|
— |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Hypertrophic cardiomyopathy 2 |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Intellectual disability |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LEFT VENTRICULAR HYPERTROPHY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Lung cancer |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Likely benign; Conflicting classifications of pathogenicity; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MICROGNATHISM |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myocardial infarction |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonpapillary renal cell carcinoma |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OBESITY |
— |
GWAS catalog
|
23251661 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ovarian serous cystadenocarcinoma |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Pancreatic adenocarcinoma |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PATENT DUCTUS ARTERIOSUS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PELVIC ORGAN PROLAPSE |
— |
GWAS catalog
|
37040585 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Primary dilated cardiomyopathy |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Primary familial dilated cardiomyopathy |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Primary familial hypertrophic cardiomyopathy |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Prolonged QT interval |
Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Benign; Likely benign; Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCOLIOSIS |
— |
GWAS catalog
|
30019117 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SYMPTOMS OF DEPRESSION |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ventricular tachycardia |
Conflicting classifications of pathogenicity |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| WOLFF-PARKINSON-WHITE SYNDROME |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |