Triple #20571
high ConfidenceKnowledge triple
PTEN
Protein coding genes
Level 1
→
mutation_results_in
causation
→
cancer_predisposition
Cancer susceptibility
Level 10
Original triple： Germline PTEN mutations#result in#cancer predisposition/ macrocephaly/ and benign hamartomas
Evidence and Confidence
| Confidence: | high |
| Evidence Strength: | clinical |
| Condition Dependency: | germline_mutation |
| Fact or Inference: | Fact |
Clinical Relevance
| Clinical Relevance: | Prognostic significance |
Other Info
| PMID: | 18082964 ↗ |
| Knowledge Particle: | KP5 |
| Value Leadboard: | 1 |
| Gene Symbol: | PTEN |
| Disease: | Cancer/ Lhermitte-Duclos disease |