| Phenotype Name |
Clinical Significance |
Source |
Evidence Score |
| ALZHEIMER DISEASE |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| ATAXIA |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| AUTISTIC DISORDER |
— |
CTD, Disgenet
CTD, Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GABRA4-associated disorder |
Conflicting classifications of pathogenicity |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GABRA4-related developmental and epileptic encephalopathy |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GABRA4-related disorder |
Likely benign |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GABRA4-related Epileptic and Neurodevelopmental Disorder |
Uncertain significance |
ClinVar
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOAFFECTIVE DISORDER, BIPOLAR TYPE |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SCHIZOPHRENIA |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| TYPE 2 DIABETES MELLITUS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |