Complement Deficiency Gene Set

Dataset DisGeNET Gene-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 https://www.disgenet.org/browser/0/1/0/C0523353
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Genes

30 genes associated with the disease Complement Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
APP amyloid beta (A4) precursor protein
ATN1 atrophin 1
C1S complement component 1, s subcomponent
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
C4B complement component 4B (Chido blood group)
C4BPA complement component 4 binding protein, alpha
C4BPB complement component 4 binding protein, beta
C4B_2 complement component 4B (Chido blood group), copy 2
C5 complement component 5
C6 complement component 6
C7 complement component 7
C8B complement component 8, beta polypeptide
CD46 CD46 molecule, complement regulatory protein
CFD complement factor D (adipsin)
CFH complement factor H
CFI complement factor I
COL7A1 collagen, type VII, alpha 1
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CP ceruloplasmin (ferroxidase)
FAM155B family with sequence similarity 155, member B
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FHL1 four and a half LIM domains 1
IFNG interferon, gamma
INSR insulin receptor
KMT2D lysine (K)-specific methyltransferase 2D
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1