Triple #19139
middle ConfidenceKnowledge triple
Loss_of_heterozygosity_at_FH_locus
Genomic abnormalities
Level 1
→
results_in
causation
→
metabolic_derangement
Metabolic phenotype
Level 6
Original triple： Loss of heterozygosity at FH locus#results in#metabolic derangement and upregulation of HIF-1�?dependent transcription
Evidence and Confidence
| Confidence: | middle |
| Evidence Strength: | Experimental + Clinical |
| Condition Dependency: | not_specified |
| Fact or Inference: | Fact |
Clinical Relevance
| Clinical Relevance: | Metabolic disorders |
Other Info
| PMID: | 24625422 ↗ |
| Knowledge Particle: | KP4 |
| Value Leadboard: | 7 |
| Gene Symbol: | FH/HIF1A |
| Disease: | HLRCC |