Macrothrombocytopenia-stomatocytosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Macrothrombocytopenia-Stomatocytosis, Mediterranean | C2749759 | ABCG5 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11099417, 11138003 | - |
| ABCG8 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11099417 | - |