Tay-sachs disease
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| 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, ClinGen |