| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| AUTOSOMAL DOMINANT SPASTIC ATAXIA |
— |
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 |
| DEVELOPMENTAL DELAY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPILEPSY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPILEPSY, TEMPORAL LOBE |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HEARING IMPAIRMENT |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| LIVER FAILURE, ACUTE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MELAS SYNDROME |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 |
— |
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 |
| MITOCHONDRIAL ENCEPHALOPATHY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEPHROLITHIASIS |
— |
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 |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ROD-CONE DYSTROPHY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SLEEP APNEA SYNDROMES |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ULNAR POLYDACTYLY OF FINGERS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |