Diamond-blackfan anemia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| DIAMOND-BLACKFAN ANEMIA | GATA1 | Causal | GWAS catalog, Orphanet | |||
| HEATR3 | Causal | Orphanet | — | |||
| RPL11 | Causal | GWAS catalog, Orphanet | ||||
| RPL35A | Causal | Orphanet | ||||
| RPL5 | Causal | GWAS catalog, Orphanet | ||||
| RPS10 | Causal | ClinGen, GenCC, Orphanet | ||||
| RPS17 | Causal | GWAS catalog, Orphanet | ||||
| RPS19 | Causal | ClinGen, GWAS catalog, Orphanet | ||||
| RPS20 | Causal | ClinVar, Orphanet | ||||
| RPS24 | Causal | ClinGen, GenCC, Orphanet | ||||
| RPS26 | Causal | CTD, Orphanet | ||||
| RPS7 | Causal | Disgenet, Orphanet | ||||
| DIAMOND-BLACKFAN ANEMIA 1 | HEATR3 | Causal | — | Disgenet | — | |
| RPL5 | Causal | — | Disgenet | |||
| RPS19 | Causal | ClinVar, Disgenet, GenCC, HPO, ClinGen | ||||
| DIAMOND-BLACKFAN ANEMIA 10 | RPS26 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 11 | RPL26 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 12 | RPL15 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 13 | RPS29 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS | TSR2 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | RPS26 | Causal | Disgenet | |||
| RPS28 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | ||||
| TSR2 | Causal | — | Disgenet | — | ||
| DIAMOND-BLACKFAN ANEMIA 16 | RPL27 | Causal | CTD, ClinVar, Disgenet, GenCC, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 17 | RPS27 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 18 | RPL18 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 19 | RPL35 | Causal | ClinVar, Disgenet, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 20 | RPS15A | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 21 | HEATR3 | Causal | ClinVar, Disgenet, HPO | — | ||
| DIAMOND-BLACKFAN ANEMIA 3 | RPS24 | Causal | ClinVar, GenCC, HPO, ClinGen | |||
| DIAMOND-BLACKFAN ANEMIA 4 | RPS17 | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| DIAMOND-BLACKFAN ANEMIA 5 | RPL35A | Causal | CTD, ClinVar, Disgenet, GenCC, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 6 | RPL5 | Causal | CTD, ClinGen, ClinVar, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 7 | RPL11 | Causal | CTD, ClinVar, Disgenet, GenCC, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 8 | RPS7 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| DIAMOND-BLACKFAN ANEMIA 9 | RPS10 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO, ClinGen | |||
| DIAMOND-BLACKFAN ANEMIA-LIKE | EPO | Causal | ClinVar, Disgenet, HPO |