complement deficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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://compbio.charite.de/hpoweb/showterm?id=HP:0004431
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Genes

15 genes associated with the complement deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C1R complement component 1, r subcomponent
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
C5 complement component 5
C6 complement component 6
C7 complement component 7
C8A complement component 8, alpha polypeptide
C8B complement component 8, beta polypeptide
C9 complement component 9
CFD complement factor D (adipsin)
CFH complement factor H
CFI complement factor I