Triple #21679

high Confidence

Knowledge triple

hereditary_leiomyomatosis_and_renal_cell_carcinoma

disease

Level 10

is_defined_by

Genetic relationship

germline_mutation_of_FH_gene

Gene mutation

Level 1

Original triple: Hereditary leiomyomatosis and renal cell carcinoma#is defined by#germline mutation of FH gene

Evidence and Confidence

Confidence: high
Evidence Strength: Clinical + Genetics
Condition Dependency: not_specified
Fact or Inference: Fact

Clinical Relevance

Clinical Relevance: diagnosis

Other Info

PMID: 31262952
Knowledge Particle: KP7
Value Leadboard: 2
Gene Symbol: FH
Disease: Hereditary leiomyomatosis and renal cell carcinoma