Macrothrombocytopenia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related | C2751259 | TUBB1 | 18849486, 24344610 |
| Macrothrombocytopenia | C2751260 | ACTN1 | 31064749 |
| CHRNE | 31064749 | ||
| FLNA | 21960593 | ||
| GATA1 | |||
| GP1BA | 31064749 | ||
| GP1BB | |||
| GP9 | 31064749 | ||
| ITGA2B | |||
| ITGB3 | |||
| SEPTIN5 | |||
| PRKACG | |||
| TPM4 | 28134622 | ||
| SLC35A1 | 30115659 | ||
| TRPM7 | 27020697 | ||
| TUBB1 | 31064749 | ||
| Autosomal dominant macrothrombocytopenia | C4304021, 140957 | ACTN1 | 23434115 |
| GP1BB | 28064200 | ||
| ITGA2B | 21454453 | ||
| ITGB3 | 19336737, 18065693 | ||
| TPM4 | 28134622 | ||
| GFI1B | 28439885 | ||
| TUBB1 | 18849486 | ||
| Severe autosomal recessive macrothrombocytopenia | 438207 | PRKACG |