Dehydrated hereditary stomatocytosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Dehydrated hereditary stomatocytosis | 3202 | KCNN4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| PIEZO1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| SLC4A1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 | C4225242 | KCNN4 | Causal Pathogenic evidence from ClinVar | 26148990, 26178367, 26198474 | ClinVar |