| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| AUTISM SPECTRUM DISORDER |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISM SPECTRUM DISORDERS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cervical cancer |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CYSTIC FIBROSIS |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSION |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSIVE DISEASE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPOTENSION |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| IDIOPATHIC BRONCHIECTASIS |
— |
Disgenet, Orphanet
Disgenet, Orphanet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIDDLE SYNDROME |
— |
ClinGen, Disgenet, GWAS catalog, Orphanet
ClinGen, Disgenet, GWAS catalog, Orphanet
ClinGen, Disgenet, GWAS catalog, Orphanet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Liddle syndrome 1 |
Uncertain significance; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 |
Conflicting classifications of pathogenicity |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myoepithelial tumor |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSEUDOHYPOALDOSTERONISM |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |