| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
|
35589863 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATRIAL FIBRILLATION |
— |
GWAS catalog
|
27790247 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CANCER |
— |
GWAS catalog
|
27790247 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon adenocarcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CORONARY ARTERY DISEASE |
— |
GWAS catalog
|
27790247 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DIABETES MELLITUS |
— |
GWAS catalog
|
27790247 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Likely benign; Benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GLOMERULONEPHRITIS |
— |
GWAS catalog
|
39024449 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEART FAILURE |
— |
GWAS catalog
|
27790247 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| INTELLECTUAL DISABILITY |
— |
CTD, Disgenet, GenCC
CTD, Disgenet, GenCC
CTD, Disgenet, GenCC
|
21937992 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MENTAL RETARDATION |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDER |
— |
GWAS catalog
|
21937992 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OSTEOARTHRITIS, SPINE |
— |
GWAS catalog
|
36889626 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 5 |
— |
Disgenet, HPO
Disgenet, HPO
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RARE CONSTITUTIONAL APLASTIC ANEMIA |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
GWAS catalog
|
35396580 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| STROKE |
— |
GWAS catalog
|
27790247 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ZCCHC8-related disorder |
Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
ClinVar |
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |