| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| BICUSPID AORTIC VALVE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIOMYOPATHY, INFANTILE HYPERTROPHIC |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CEREBELLAR ATAXIA |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CLEFT PALATE AND BILATERAL CLEFT LIP |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MELAS SYNDROME |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1 |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL DISEASES |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MULTIPLE SCLEROSIS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC ATROPHY, HEREDITARY, LEBER |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| OPTIC NEUROPATHY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PERIODIC PARALYSIS WITH LATER-ONSET DISTAL MOTOR NEUROPATHY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ROD-CONE DYSTROPHY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULNAR POLYDACTYLY OF FINGERS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |