complement deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
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)
Similar Terms
Downloads & Tools

Genes

99 genes co-occuring with the disease complement deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
C5 complement component 5 1.75596
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 1.73049
CFP complement factor properdin 1.6651
KNG1 kininogen 1 1.63366
C3 complement component 3 1.54805
C1S complement component 1, s subcomponent 1.4733
C1R complement component 1, r subcomponent 1.4342
F12 coagulation factor XII (Hageman factor) 1.37817
C5AR1 complement component 5a receptor 1 1.35202
CR1 complement component (3b/4b) receptor 1 (Knops blood group) 1.34679
C4A complement component 4A (Rodgers blood group) 1.27083
C7 complement component 7 1.25254
MASP2 mannan-binding lectin serine peptidase 2 1.09713
KRTAP10-9 keratin associated protein 10-9 1.09167
PRCP prolylcarboxypeptidase (angiotensinase C) 1.02187
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 1.02102
KLKB1 kallikrein B, plasma (Fletcher factor) 1 0.952856
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 0.895
FCN3 ficolin (collagen/fibrinogen domain containing) 3 0.880653
ACE angiotensin I converting enzyme 0.824948
MBNL3 muscleblind-like splicing regulator 3 0.824948
C8B complement component 8, beta polypeptide 0.823718
DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 0.786803
C2 complement component 2 0.782298
CR2 complement component (3d/Epstein Barr virus) receptor 2 0.746798
MBL2 mannose-binding lectin (protein C) 2, soluble 0.737865
BPIFA2 BPI fold containing family A, member 2 0.727738
AP2M1 adaptor-related protein complex 2, mu 1 subunit 0.716425
C3AR1 complement component 3a receptor 1 0.709572
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) 0.666358
CFB complement factor B 0.661594
DCLK3 doublecortin-like kinase 3 0.640251
DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 0.63907
CFH complement factor H 0.621792
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.590558
KRT1 keratin 1, type II 0.564112
CFI complement factor I 0.562946
GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) 0.560616
C5AR2 complement component 5a receptor 2 0.552463
C4B complement component 4B (Chido blood group) 0.543542
CD2BP2 CD2 (cytoplasmic tail) binding protein 2 0.540442
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.52536
S100B S100 calcium binding protein B 0.489311
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 0.452962
C1QBP complement component 1, q subcomponent binding protein 0.443923
F11 coagulation factor XI 0.442042
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 0.42814
C1QA complement component 1, q subcomponent, A chain 0.42814
CD79A CD79a molecule, immunoglobulin-associated alpha 0.410909
PLCH2 phospholipase C, eta 2 0.400453
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.398589
LDLR low density lipoprotein receptor 0.389281
CYS1 cystin 1 0.379256
IRAK4 interleukin-1 receptor-associated kinase 4 0.357814
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 0.348614
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 0.292257
BDKRB2 bradykinin receptor B2 0.285802
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.273308
RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 0.241196
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 0.223165
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.21974
CLEC3A C-type lectin domain family 3, member A 0.209248
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 0.206913
CLEC2B C-type lectin domain family 2, member B 0.204593
APEH acylaminoacyl-peptide hydrolase 0.196779
SH2D1A SH2 domain containing 1A 0.191719
IFNGR1 interferon gamma receptor 1 0.18651
CLEC10A C-type lectin domain family 10, member A 0.185016
ALB albumin 0.171036
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) 0.168148
INA internexin neuronal intermediate filament protein, alpha 0.166319
TNFRSF18 tumor necrosis factor receptor superfamily, member 18 0.158778
HIST2H2AC histone cluster 2, H2ac 0.138045
HIST2H2AA3 histone cluster 2, H2aa3 0.138037
HIST2H2AA4 histone cluster 2, H2aa4 0.138037
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 0.135394
HSPG2 heparan sulfate proteoglycan 2 0.134767
NR1H4 nuclear receptor subfamily 1, group H, member 4 0.134729
NPPB natriuretic peptide B 0.132465
CD46 CD46 molecule, complement regulatory protein 0.131936
PFDN4 prefoldin subunit 4 0.130919
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 0.130519
KLK1 kallikrein 1 0.130144
WDFY2 WD repeat and FYVE domain containing 2 0.12988
CD19 CD19 molecule 0.129226
IL1B interleukin 1, beta 0.128042
CTSG cathepsin G 0.127479
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.127329
CD4 CD4 molecule 0.126471
CD27 CD27 molecule 0.12598
PDGFB platelet-derived growth factor beta polypeptide 0.125952
PER1 period circadian clock 1 0.124524
SELL selectin L 0.124249
GOT1 glutamic-oxaloacetic transaminase 1, soluble 0.12368
FGD1 FYVE, RhoGEF and PH domain containing 1 0.122619
CMA1 chymase 1, mast cell 0.121125
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 0.12105
CP ceruloplasmin (ferroxidase) 0.120024
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.118272