| 1304749 | Lrp6 | low density lipoprotein receptor-related protein 6encodes a putative receptor involved in the canonical Wnt receptor signaling pathway, cell-cell adhesion, synaptic transmission, and other processes; homologs are associated with metabolic syndrome, liver | 4 | 171337114 | 171444932 |   | .Haines JL, Schnetz-Boutaud N, Schmidt S, Scott WK, Agarwal A, Postel EA. et al. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci. 2006;47(1):329–35. | PMID:16384981 |
| 1305630 | Elovl4 | ELOVL fatty acid elongase | 4 | 888855155 | 88881703 |   | Conley YP, Thalamuthu A, Jakobsdottir J, Weeks DE, Mah T, Ferrell RE. et al. Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet. 2005;14(14) | PMID:15930014 |
| 1307477 | Mfrp | membrane frizzled-related protein | 8 | 47084056 | 47089218 |   | Kameya S, Hawes NL, Chang B, Heckenlively JR, Naggert JK, Nishina PM. Mfrp, a gene encoding a
frizzled related protein, is mutated in the mouse retinal degeneration 6. Hum Mol Genet
2002;11:1879–86. [PubMed: 12140190] | PubMed: 12140190 |
| 1309445 | Abca4 | Abca4ATP-binding cassette, subfamily A (ABC1), member 4exhibits phospholipid transporter activity; involved in photoreceptor cell maintenance and visual perception (ortholog) | 2 | 218712663 | 218849896 |   | Swaroop A, Branham KE, Chen W, Abecasis G.Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R174-82.PMID:17911160 | PMID:17911160 |
| 1309514 | Gnat2 | guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2, subunit of the G protein transducin; involved in transduction of signals resulting from bitter taste impulses in the tongue and visual impulses in retinal cones | 2 | 203652408 | 203655012 |   | Chang B, Dacey MS, Hawes NL, Hitchcock PF, Milam AH, Atmaca-Sonmez P, Nusinowitz S,
Heckenlively JR. Cone Photoreceptor Function Loss-3, a Novel Mouse Model of Achromotopsia
Due to a Mutation in Gnat2. Invest Ophthalmol Vis Sci 2006;47:5017–21. [PubMed: 1 | PubMed: 17065522 |
| 1311509 | Ercc6 | Ercc6excision repair cross-complementing rodent repair deficiency, complementation group 6 | 16 | 8024881 | 8091587 |   | Baas DC, Despriet DD, Gorgels TG, Bergeron-Sawitzke J. The ERCC6 gene and age-related macular degeneration.PLoS One. 2010 Nov 1;5(11):e13786.PMID: 21072178 | PMID: 21072178 |
| 1561092 | Mdm1 | Mdm1 nuclear protein homolog (mouse) | 7 | 57455598 | 57482092 |   | Chang B, Mandal MN, Chavali VR, Hawes NL, Khan NW, Hurd RE, Smith RS, Davisson ML, Kopplin
L, Klein BE, Klein R, Iyengar SK, Heckenlively JR, Ayyagari R. Age-related retinal degeneration
(arrd2) in a novel mouse model due to a nonsense mutation in the Mdm | PubMed: 18805803 |
| 1564153 | Plekha1 | pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 | 1 | 190187202 | 190238309 |   | Conley YP, Jakobsdottir J, Mah T, et al. CFH, ELOVL4, PLEKHA1, and LOC387715 genes and
susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol
Genet 2006;15:3206–3218. PubMed: 17000705 | PubMed:17000705 |
| 1564772 | Hmcn1 | hemicentin 1exhibits ATP and calcium ion binding, phsphatase activity, vascular endothelial growth factor receptor activity; involved in bioluminescence, dephosphorylation, protein-chromophore linkage (inferred) | 13 | 65296682 | 65779372 |   | Swaroop A, Branham KE, Chen W, Abecasis G.Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R174-82.PMID:17911160 | PMID:17911160 |
| 2129 | Apob | apolipoprotein B, plays a role in cholesterol metabolism | 6 | 31508060 | 31548083 |   | Espinosa-Heidmann DG, Sall J, Hernandez EP, Cousins SW. Basal laminar deposit formation in APO
B100 transgenic mice: complex interactions between dietary fat, blue light, and vitamin E. Invest
Ophthalmol Vis Sci 2004;45:260–6. [PubMed: 14691182] | PubMed: 14691182 |
| 2138 | Apoe | apolipoprotein E, plays a role in plasma lipoprotein transport | 1 | 79003634 | 79006387 |   | Baird PN, Richardson AJ, Robman LD, Dimitrov PN, Tikellis G, et al. 2006. Apolipoprotein (APOE)
gene is associated with progression of age-related macular degeneration (AMD). Hum. Mutat. 27:337–42, | PMID:16453339 |
| 2204 | Cfb | Cfbcomplement factor Bcomponent of the alternative pathway of complement activation; may be linked to the major histocompatibility complex and thus involved in the immune response | 20 | 4072124 | 4077802 |   | Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, et al. 2006. Variation in factor B (BF) and
complement component 2 (C2) genes is associated with age-related macular degeneration. Nat. Genet.
38:458–62. PMID:16518403 | PMID:16518403 |
| 2231 | C2 | complement component 2likely component of the classical pathway of the complement cascade; sequence is found within the major histocompatibility complex | 20 | 4051146 | 4071909 |   | Gold B, Merriam JE, Zernant J, et all.Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.Nat Genet. 2006 Apr;38(4):458-62. Epub 2006 Mar 5. | PMID:16518403 |
| 2232 | c3 | complement component 3, encodes a protein involved in the classical complement pathway, the positive regulation of ERK1 and ERK2 cascade, tolerance induction and other processes; associated with glomerulonephritis, myocardial infarction, pneumonia and ot | ? | ? | ? | ? | Maller, J.B., Fagerness, J.A., Reynolds, R.C., Neale, B.M., Daly, M.J., Seddon,
J.M., 2007. Variation in complement factor 3 is associated with risk
of age-related macular degeneration. Nat. Genet. 39, 1200–1201. | PMID:17767156 |
| 2301 | Cd36 | CD36 molecule (thrombospondin receptor), a fatty acid translocase involved in long-chain fatty acid (LCFA) transport and regulation of angiogenesis; associated with atherosclerosis, diabetes mellitus, and other diseases | 4 | 13471878 | 13525620 |   | Kondo N, Honda S, Kuno S, Negi A., Positive association of common variants in CD36 with neovascular age-related macular degeneration.Aging (Albany NY). 2009 Feb 12;1(2):266-74., PMID:20157514 | PMID:20157514 |
| 2302 | Scarb1 | scavenger receptor class B, member 1, specific receptor for high density lipoprotein; may play a role in steroidogenesis | 12 | 32390183 | 32457661 |   | Zerbib J, Seddon JM, Richard F, et all, rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.PLoS One. 2009 Oct 5;4(10):e7341.PMID:19806217 | PMID:19806217 |
| 2387 | Cp | ceruloplasmin (ferroxidase), copper-containing ferroxidase that promotes iron incorporation into transferrin; plays a role in iron metabolism and homeostatis | 2 | 105086278 | 105135367 |   | Hadziahmetovic M, Dentchev T, Song Y, Haddad N, He X, Hahn
P, Pratico D, Wen R, Harris ZL, Lambris JD, Beard J, Dunaief JL:
Ceruloplasmin/hephaestin knockout mice model morphologic
and molecular features of AMD. Invest Ophthalmol Vis Sci
49(6):2728–2736, | PMID:18326691 |
| 2432 | Cst3 | cystatin C, encodes a protein exhibiting cysteine-type endopeptidase inhibitor activity, protease binding, beta-amyloid binding (human ortholog); involved in positive regulation of cell proliferation, regulation of programmed cell death, response to oxida | 3 | 137650903 | 137654776 |   | Alizadeh P, Smit-McBride Z, Oltjen SL, Hjelmeland LM., Regulation of cysteine cathepsin expression by oxidative stress in the retinal pigment epithelium/choroid of the mouse.Exp Eye Res. 2006 Sep;83(3):679-87. Epub 2006 May 8.PMID:16684524 | PMID:16684524 |
| 2594 | Fbln5 | fibulin 5may play a role in vascular growth and maturation during development and in lesions of injured vessels | 6 | 126018541 | 126098234 |   | Mullins RF, Olvera MA, Clark AF, Stone EM.Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration.Exp Eye Res. 2007 Feb;84(2):378-80. Epub 2006 Nov 14. | PMID:17109857 |
| 2869 | Igf1r | insulin-like growth factor 1 receptor | 1 | 122704976 | 122990007 |   | Chiu CJ, Conley YP, Gorin MB, Gensler G, Lai CQ, Shang F, Taylor A., Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration.Invest Ophthalmol Vis Sci. 2011 Nov 25;52(12):9099-107. | PMID:22058336 |
| 2870 | Igf2 | insulin-like growth factor 2 | 1 | 202906624 | 202915231 |   | Chiu CJ, Conley YP, Gorin MB, Gensler G, Lai CQ, Shang F, Taylor A., Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration.Invest Ophthalmol Vis Sci. 2011 Nov 25;52(12):9099-107. | PMID:22058336 |
| 3009 | Lipc | lipase, hepatic, a lipase involved in the hydrolysis of phospholipids and triglycerides, developmental growth, lipoprotein remodeling and other processes; associated with diabetes, hyperlipidemia, kidney disease and other diseases; part of the reverse cho | 8 | 75323442 | 75450353 |   | Yu Y, Reynolds R, Fagerness J. Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration.Invest Ophthalmol Vis Sci. 2011 Jun 28;52(7):4663-70. Print 2011.PMID:21447678 | PMID:21447678 |
| 3645 | Ccl2 | chemokine (C-C motif) ligand 2, encodes a chemokine involved in the inflammatory response, organ regeneration, aging, and other processes; associated with arthritis, asthma, diabetes, and many other diseases | 10 | 70256263 | 70258061 |   | Ambati J, Anand A, Fernandez S, Sakurai E, Lynn BC, Kuziel WA, et al. An animal model of age-related
macular degeneration in senescent Ccl-2- or Ccr-2-deficient mice. Nat Med 2003b;9:1309–1398. | |
| 3731 | Sod1 | superoxide dismutase 1, soluble, catalyzes the conversion of superoxide to hydrogen peroxide and molecular oxygen; involved in response to oxidative stress | 11 | 29810766 | 29816342 |   | Imamura Y, Noda S, Hashizume K, Shinoda K, Yamaguchi M,
Uchiyama S, Shimizu T, Mizushima Y, Shirasawa T, Tsubota
K: Drusen, choroidal neovascularization, and retinal pigment
epithelium dysfunction in SOD1-deficient mice: a model of
age-related macular deg | PMID:16844785 |
| 3732 | Sod2 | superoxide dismutase 2, mitochondrial, encodes a manganese-binding superoxide dismutase; involved in aging, hydrogen peroxide metabolic process, removal of superoxide radicals and other biological processes; associated with many diseases and many types of | 1 | 41862997 | 41870327 |   | SOD2 knockdown
mouse model of early AMD. Invest Ophthalmol Vis Sci
48(10):4407–4420, 2007.PMID:17898259
| PMID:17898259 |
| 3870 | Tlr4 | toll-like receptor 4encodes a lipopolysaccharide binding protein belonging to the toll-like receptor gene family; involved in response to toxin, positive regulation of NF-kappaB transcription factor activity, positive regulation of apoptosis and many othe | 5 | 83564100 | 83577735 |   | Swaroop A, Branham KE, Chen W, Abecasis G.Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R174-82.PMID:17911160 | PMID:17911160 |
| 3963 | Vldlr | very low density lipoprotein receptor, encodes a protein exhibiting protein tyrosine kinase activator activity, very-low-density lipoprotein receptor activity (human ortholog), protein binding (Dab1; mouse ortholog) and other functions (inferred); involve | 1 | 230666736 | 230697748 |   | Haines JL, Schnetz-Boutaud N. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6.Invest Ophthalmol Vis Sci. 2006 Jan;47(1):329-35. | PMID:16384981 |
| 619799 | Vegfb | vascular endothelial growth factor B, mouse homolog is a growth factor; involved in the promotion of angiogenesis | 1 | 209657632 | 209661271 |   | Boltz A, Rui? M, Jonas JB, Tao Y, Role of Vascular Endothelial Growth Factor Polymorphisms in the Treatment Success in Patients with Wet Age-related Macular Degeneration., Ophthalmology. 2012 Apr 20. [Epub ahead of print] | PMID:22521084 |
| 619991 | Vegfa | vascular endothelial growth factor Amediates broad spectrum of biological processes, including stimulating cell proliferation, inducing cell migration, promoting cell survival, and regulating physiological and pathological angiogenesis | 9 | 10520730 | 10536071 |   | Swaroop A, Branham KE, Chen W, Abecasis G.Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R174-82.PMID:17911160 | PMID:17911160 |
| 619991 | Vegfa | vascular endothelial growth factor A, mediates broad spectrum of biological processes, including stimulating cell proliferation, inducing cell migration, promoting cell survival, and regulating physiological and pathological angiogenesis | 9 | 10520730 | 10536071 |   | Schwesinger C, Yee C, Rohan RM, Joussen AM, Fernandez
A, Meyer TN, Poulaki V, Ma JJ, Redmond TM, Liu S, Adamis
AP, D’Amato RJ: Intrachoroidal neovascularization in
transgenic mice overexpressing vascular endothelial growth
factor in the retinal pigment ep | PMID:11238064 |
| 620137 | Cx3cr1 | chemokine (C-X3-C motif) receptor 1member of the rhodopsin family of G-protein coupled receptors; may act as a receptor for a chemokine peptide ligand | 8 | 125033630 | 125047335 |   | Swaroop A, Branham KE, Chen W, Abecasis G.Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R174-82.PMID:17911160 | PMID:17911160 |
| 620137 | Cx3cr1 | chemokine (C-X3-C motif) receptor 1, member of the rhodopsin family of G-protein coupled receptors; may act as a receptor for a chemokine peptide ligand | 8 | 125033630 | 125047335 |   | Chen Y, Bedell M, Zhang K., Age-related macular degeneration: genetic and environmental factors of disease., Mol Interv. 2010 Oct;10(5):271-81.,PMID:21045241 | PMID:21045241 |
| 620428 | Cfh | complement factor H, regulator of complement cascade activation | 13 | 53252249 | 53355987 |   | Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, et al. 2005. Complement factor H variant
increases the risk of age-related macular degeneration. Science 308:419–21 | PMID:15761120 |
| 620429 | Cfi | complement factor Imouse homolog is a regulatory serine proteinase of the complement cascade that cleaves C3b and C4b and inactivates them | 2 | 227281621 | 227325109 |   | Fagerness JA, Maller JB. Variation near complement factor I is associated with risk of advanced AMD.Eur J Hum Genet. 2009 Jan;17(1):100-4. Epub 2008 Aug 6. | PMID:18685559 |
| 620876 | Ccr2 | chemokine (C-C motif) receptor 2, mediates leukocyte migration and activation | 8 | 128892784 | 128893905 |   | Ramkumar HL, Zhang J, Chan CC., Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD).Prog Retin Eye Res. 2010 May;29(3):169-90. Epub 2010 Mar 3., PMID:20206286 | PMID:20206286 |
| 621320 | Mmp9 | matrix metallopeptidase 9, encodes a metalloproteinase involved in regulation of angiogenesis, regulation of cell migration, and other biological processes; associated arteriosclerosis, arthritis, brain injuries and many other diseases | 3 | 155985473 | 155993433 |   | Hendrik P.N. Scholl,et all, An update on the genetics of age-related macular degeneration., Mol Vis. 2007 Feb 7;13:196-205., PMID:17327825 | PMID:17327825 |
| 735171 | Tlr3 | toll-like receptor 3encodes a protein exhibiting receptor activity, double-stranded RNA binding, protein binding (Unc93b1; mouse ortholog); involved in microglial cell activation involved in immune response, positive regulation of apoptosis, toll-like rec | 16 | 50112910 | 50126371 |   | Swaroop A, Branham KE, Chen W, Abecasis G.Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R174-82.PMID:17911160 | PMID:17911160 |
| 735225 | Serping1 | serpin peptidase inhibitor, clade G, member 1; human homolog acts as a serine protease inhibitor; involved in regulation of the classical complement pathway | 3 | 67968808 | 67978102 |   | Nakata I, Yamashiro K, Yamada R et all, Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese.PLoS One. 2011 Apr 19;6(4):e19108.PMID:21526158 | PMID:21526158 |