Triple #22121
high ConfidenceKnowledge triple
FH
Protein coding genes
Level 1
→
mutated_in
Genetic variation relationship
→
HLRCC_syndrome
Rare genetic diseases
Level 10
Original triple： Mutations in FH gene#underlie#HLRCC syndrome
Evidence and Confidence
| Confidence: | high |
| Evidence Strength: | Clinical + genetic analysis |
| Condition Dependency: | not_specified |
| Fact or Inference: | Fact |
Clinical Relevance
| Clinical Relevance: | Diagnosis/Genetic Risk |
Other Info
| PMID: | 24625422 ↗ |
| Knowledge Particle: | KP4 |
| Value Leadboard: | 7 |
| Gene Symbol: | FH |
| Disease: | HLRCC |