| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| ACBD5-related disorder |
Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Acute myeloid leukemia |
Uncertain significance; Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ACYL-COA BINDING DOMAIN CONTAINING PROTEIN 5 DEFICIENCY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ALZHEIMER DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CANCER |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| BREAST CARCINOMA |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cholangiocarcinoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONE-ROD DYSTROPHIES |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cone-rod dystrophy |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Gastric cancer |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Retinal dystrophy |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| RETINITIS PIGMENTOSA 1 |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| THROMBOCYTOPENIA |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thymoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Thyroid cancer, nonmedullary, 1 |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine carcinosarcoma |
Benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |