Triple #21633
high ConfidenceKnowledge triple
SMAD4
Protein coding genes
Level 1
→
mutated_in
Genetic variation relationship
→
chromatin_remodeling_pathway
signaling pathway
Level 5
Original triple： Mutations in ATM/ BRCA1/ BRCA2/ ARID1A/ DICER1/ SMAD4/ NOTCH1/ and MYC amplification#were identified in#DNA damage repair and chromatin remodeling pathways in CCAs
Evidence and Confidence
| Confidence: | high |
| Evidence Strength: | Clinical + System Analysis |
| Condition Dependency: | not_specified |
| Fact or Inference: | Fact |
Clinical Relevance
| Clinical Relevance: | Pathogenic mechanism |
Other Info
| PMID: | 39450999 ↗ |
| Knowledge Particle: | KP4 |
| Value Leadboard: | 7 |
| Gene Symbol: | ATM/BRCA1/BRCA2/ARID1A/DICER1/SMAD4/NOTCH1/MYC |
| Disease: | Cholangiocarcinoma (CCA) |
| Pathway: | DNA damage repair/ chromatin remodeling |