Appendicitis Gene Set

Dataset DISEASES Experimental Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. (Human Disease Ontology, DOID_8337)
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Genes

4 genes associated with the disease Appendicitis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 1.055
MALL mal, T-cell differentiation protein-like 0.965
NPHP1 nephronophthisis 1 (juvenile) 0.965
MTLN mitoregulin 0.965