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Table 3 Genes associated with AMD that cluster into five major pathways

From: AMD and the alternative complement pathway: genetics and functional implications

Inflammation and immune response Cell stress response
C2 Complement component 2 HLA-C Major histocompatibility complex, class I, C ABCA4 ATP-binding cassette subfamily A member 4 HTRA1 HtrA serine peptidase 1
C3 Complement component 3 IL8 Interleukin B ACE Angiotensin I converting enzyme 1 RORA RAR-related orphan receptor alpha
CFB Complement factor B MMP9 Matrix metallopeptidase 9 APOE Apoliporotein E SOD2 Superoxide dismutase 2, mitochondrial
CFH Complement factor H PLEKHA1 Pleckstrin homology domain containing, family A member 1 ARMS2 Age-related maculopathy susceptibility 2 TF Transferrin
CFD Complement factor D RORA RAR-related orphan receptor alpha CST3 Cystatin C TLR3 Toll-like receptor 3
CFHR1-5 Complement factor H-related 1-5 SERPING1 Serpin peptidase inhibitor, clade G, member 1 CX3CR1 Chemokine receptor 1 TLR4 Toll-like receptor 4
CFI Complement factor I TLR3 Toll-like receptor 3 CYP24A1 Cytochrome P450, family 24, subfamily A peptide 1 VLDLR Very low-density lipoprotein receptor
C9 Complement component 9 TLR4 Toll-like receptor 4 GSTM1 Glutathione S-transferase mu 1 TNFRSF10A/LOC389641 Tumor necrosis factor receptor superfamily, member 10a
CX3CR1 Chemokine receptor 1 VLDLR Very low-density lipoprotein receptor GSTP1 Glutathione S-transferase pi 1 IER3 Immediate early response 3
F13B Coagulation factor XIII, B polypeptide VTN Vitronectin GSTT1 Glutathione S-transferase tau 1 TGFBR1 Transforming growth factor, beta receptor 1
Lipid metabolism and transport Extracellular matrix and cell adhesion
ABCA1 ATP-binding cassette, subfamily A, member 1 FADS1-3 Fatty acid desaturases 1-3 ACE Angiotensin 1 converting enzyme 1 ROBO1 Roundabout, axon guidance receptor, homolog 1
ABCA4 ATP-binding cassette, subfamily A, member 4 LIPC Hepatic lipase ARMS2 Age-related maculopathy susceptibility 2 TIMP3 Tissue inhibitor of metalloproteinase 3
APOE Apolipoprotein E LPL Lipoprotein lipases ADAMTS9 ADAM metallopeptidase with trhombospondin type 1 motif, 9 MMP19 Matrix metallopeptidase 19
CETP Cholesteryl ester transfer protein, plasma LRP6 Low-density lipoprotein receptor-related protein 6 COL8A1 Collagen, type VIII, alpha 1 PCOLCE Procollagen c-endopeptidase enhancer
CFHR1-5 Complement factor H-related 1-5 RORA RAR-related orphan receptor alpha COL10A1 Collagen, type X, alpha 1 VTN Vitronectin
CYP24A1 Cytochrome P450, family 24, subfamily A peptide 1 VLDLR Very low-density lipoprotein receptor CST3 Cystatin C ABCA7 ATP-binding cassette, cubfamily A, member 7
ELOVL4 ELVL fatty acid elongase 4 PLTP Phospholipid transfer protein CX3CR1 Chemokine receptor 1 ACTG1 Actin gamma 1
Angiogenesis F13B Coagulation factor XIII, B polypeptide BCAR1 Breast cancer anti-estrogen resistance 1
ACE Angiotensin I converting enzyme 1 LRP6 Low-density lipoprotein receptor-related protein 6 FBLN5 Fibulin 5 COL4A4 Collagen, type IV, alpha 4
COL10A1 Collagen, type X, alpha 1 MMP9 Matrix metallopeptidase 9 HMCN1 Hemicentin ITGA7 Integrin, alpha 7
COL8A1 Collagen, type VIII, alpha 1 RORA RAR-related orphan receptor alpha HTRA1 HtrA serine peptidase 1 MYL2 Myosin, light chain 2, regulatory, cardiac, slow
CST3 Cystatin C SERPINF1 Serpin peptidase inhibitor, clade F MMP9 Matrix metallopeptidase 1   
FBLN5 Fibulin 5 TIMP3 Tissue inhibitor of metalloproteinase 3     
GDF6 Growth differentiation factor 6 VEGFA Vascular endothelial growth factor A     
HTRA1 HtrA serine peptidase 1 VLDLR Very low-density lipoprotein receptor     
IL8 Interleukin 8       
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