Erythrokeratodermia variabilis
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | GJB3 | Causal | ClinVar, Disgenet, GenCC, HPO, ClinGen | |||
| NIPAL4 | Causal | — | Disgenet | |||
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 | GJB4 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 | GJA1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 | KDSR | Causal | CTD, ClinGen, ClinVar, Disgenet, HPO | |||
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 | TRPM4 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 | PERP | Causal | ClinVar, Disgenet, GWAS catalog, HPO |