| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| Acute myeloid leukemia |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CANCER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CATARACT |
— |
Disgenet
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL CATARACT |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL CATARACT, SEVERE NEONATAL HEPATOPATHY, GLOBAL DEVELOPMENTAL DELAY SYNDROME |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONGENITAL CATARACT-SEVERE NEONATAL HEPATOPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME |
— |
Orphanet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CYP51A1-related disorder |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Developmental cataract |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DYSLEXIA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Familial cancer of breast |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant tumor of esophagus |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Sarcoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Squamous cell carcinoma of the head and neck |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |