Triple #21423
high ConfidenceKnowledge triple
ribosomal_protein_genes_haploinsufficiency
Gene dosage abnormalities
Level 1
→
is_implicated_in
causation
→
5q-syndrome
Genetic disorders
Level 10
Original triple： Haploinsufficiency of ribosomal protein genes#is implicated in#Diamond-Blackfan anemia and 5q-syndrome
Evidence and Confidence
| Confidence: | high |
| Evidence Strength: | clinical |
| Condition Dependency: | not_specified |
| Fact or Inference: | Fact |
Clinical Relevance
| Clinical Relevance: | Diagnostic significance |
Other Info
| PMID: | 21068437 ↗ |
| Knowledge Particle: | KP4 |
| Value Leadboard: | 7 |
| Disease: | Diamond-Blackfan anemia/ 5q-syndrome |