Hereditary sensory and autonomic neuropathy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 | SPTLC1 | Causal | ClinVar, GWAS catalog, Orphanet | |||
| HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2 | RETREG1 | Causal | ClinVar, Disgenet, Orphanet | — | ||
| HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 | DST | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet | |||
| HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 | SCN11A | Causal | ClinVar, Disgenet, GWAS catalog, Orphanet | |||
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1A | SPTLC1 | Causal | CTD, ClinVar | |||
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1C | SPTLC2 | Causal | ClinGen, ClinVar, GWAS catalog | |||
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2A | KIF1A | Causal | — | ClinVar | ||
| SCN9A | Causal | — | ClinVar | |||
| WNK1 | Causal | ClinGen, ClinVar, GWAS catalog | ||||
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2B | RETREG1 | Causal | ClinVar, GWAS catalog | — | ||
| NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SEVERE | SPTLC1 | Causal | — | Disgenet | ||
| NEUROPATHY, HEREDITARY SENSORY, TYPE 1D | ATL1 | Causal | ClinGen, ClinVar, GWAS catalog | — | ||
| NEUROPATHY, HEREDITARY SENSORY, TYPE 1F | ATL3 | Causal | ClinGen, ClinVar, GWAS catalog | — | ||
| NEUROPATHY, HEREDITARY SENSORY, TYPE 2C | KIF1A | Causal | ClinVar, GWAS catalog |