complement deficiency Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. (Human Disease Ontology, DOID_626)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:626
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Genes

9 genes associated with the disease complement deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
HSPA1L heat shock 70kDa protein 1-like 3.02852
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 2.90657
NOTCH4 notch 4 2.80274
BTNL2 butyrophilin-like 2 2.73163
NCR3 natural cytotoxicity triggering receptor 3 2.61485
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 2.53675
TNXB tenascin XB 2.0844
CFH complement factor H 1.5865
C3 complement component 3 1.48714