Triple #21783
high ConfidenceKnowledge triple
GLUT2
Glucose transporter
Level 2
→
mutations_cause
Pathogenic mechanism
→
Fanconi-Bickel_syndrome
Single gene disease
Level 10
Original triple： Fanconi-Bickel syndrome#is caused by#mutations in the GLUT2 (SLC2A2) gene
Evidence and Confidence
| Confidence: | high |
| Evidence Strength: | Clinical + Experimental |
| Condition Dependency: | Genetic background |
| Fact or Inference: | Fact |
Clinical Relevance
| Clinical Relevance: | Pathogenic mechanism |
Other Info
| PMID: | 28382841 ↗ |
| Knowledge Particle: | KP8 |
| Value Leadboard: | 8 |
| Gene Symbol: | SLC2A2 |
| Disease: | Fanconi-Bickel syndrome |