Beta thalassemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BETA PLUS THALASSEMIA | HBB | Unknown | — | Disgenet | |
| BETA THALASSEMIA | HBA2 | Causal | — | Disgenet | |
| HBB | Causal | — | ClinVar Disgenet GenCC | ||
| BCL11A | Unknown | — | Disgenet | ||
| CACNA1H | Unknown | — | Disgenet | ||
| CAD | Unknown | — | Disgenet | ||
| COL1A1 | Unknown | — | Disgenet | ||
| DHODH | Unknown | — | Disgenet | ||
| EPO | Unknown | — | Disgenet | ||
| GATA1 | Unknown | — | Disgenet | ||
| GH1 | Unknown | — | Disgenet | ||
| GSTT1 | Unknown | — | Disgenet | ||
| HAMP | Unknown | — | Disgenet | ||
| HBS1L | Unknown | — | Disgenet | ||
| HFE | Unknown | — | Disgenet | ||
| HLA-DQB1 | Unknown | — | Disgenet | ||
| LCN2 | Unknown | — | Disgenet | ||
| TFR2 | Unknown | — | Disgenet | ||
| TFRC | Unknown | — | Disgenet | ||
| TNF | Unknown | — | Disgenet | ||
| UMPS | Unknown | — | Disgenet | ||
| BETA THALASSEMIA INTERMEDIA | HBB | Causal | — | Disgenet | |
| BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE | HBB | Unknown | — | CTD Disgenet | |
| BETA ZERO THALASSEMIA | HBB | Causal | — | Disgenet | |
| BETA-THALASSEMIA | - | Unknown | — | HPO | |
| CACNA1H | Unknown | CTD | |||
| CAD | Unknown | CTD | |||
| DHODH | Unknown | CTD | |||
| EPO | Unknown | CTD | |||
| HAMP | Unknown | CTD | |||
| HBA2 | Unknown | CTD | |||
| HBB | Unknown | CTD HPO | |||
| LCN2 | Unknown | CTD | |||
| TFR2 | Unknown | CTD | |||
| TFRC | Unknown | CTD | |||
| UMPS | Unknown | CTD | |||
| BETA-THALASSEMIA HBB/LCRB | HBB | Causal | — | ClinGen ClinVar GenCC | |
| BETA-THALASSEMIA INTERMEDIA | HBB | Unknown | CTD Orphanet | ||
| BETA-THALASSEMIA MAJOR | HBB | Causal | GWAS catalog Orphanet | ||
| BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | HBB | Unknown | — | HPO | |
| BETA-THALASSEMIA-X-LINKED THROMBOCYTOPENIA SYNDROME | GATA1 | Causal | ClinVar GenCC Orphanet |