Tay-sachs disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| TAY-SACHS DISEASE | GM2A | Causal | — | Disgenet | |
| HEXA | Causal | CTD ClinGen ClinVar Disgenet GenCC HPO | |||
| SETX | Unknown | — | Disgenet | ||
| TAY-SACHS DISEASE AB VARIANT | GM2A | Unknown | ClinGen Disgenet | ||
| TAY-SACHS DISEASE, AB VARIANT | GM2A | Unknown | — | CTD Disgenet | |
| HEXA | Unknown | — | Disgenet | ||
| TAY-SACHS DISEASE, ADULT FORM | HEXA | Unknown | — | Orphanet | |
| TAY-SACHS DISEASE, INFANTILE FORM | HEXA | Unknown | — | Orphanet | |
| TAY-SACHS DISEASE, JUVENILE | HEXA | Causal | — | Disgenet | |
| TAY-SACHS DISEASE, JUVENILE FORM | HEXA | Unknown | — | Orphanet | |
| TAY-SACHS DISEASE, VARIANT AB |
|
GM2A | Causal | — | ClinVar |
| TAY-SACHS DISEASE, VARIANT B1 | HEXA | Unknown | — | Disgenet |