Hereditary hyperekplexia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hereditary hyperekplexia | 3197 | GLRA1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| ATAD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| GLRB | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| GPHN | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| SLC6A5 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |