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	macular degeneration

Disease ID	319
Disease	macular degeneration
Definition	deterioration of the macula lutea in the retina; may be inherited, drug induced, or due to aging; leads to a severe loss of central vision while peripheral vision is retained.
Synonym	degeneration macular degenerative disorder of macula degenerative disorder of macula (disorder) macula lutea degeneration macular degeneration (disorder) macular degeneration of retina, unspecified macular degenerations pigmented macular degeneration
DOID	DOID:4448
UMLS	C0024437
MeSH	D008268
SNOMED-CT	SNOMEDCT_US_2016_09_01:422338006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:45) C0456909 \| vision loss \| 27 C0456909 \| blindness \| 26 C0011884 \| diabetic retinopathy \| 7 C0086543 \| cataract \| 6 C0035309 \| retinopathy \| 5 C0011847 \| diabetes \| 4 C0027092 \| myopia \| 3 C0011570 \| depression \| 3 C0042164 \| uveitis \| 3 C0024441 \| macular hole \| 2 C0011849 \| diabetes mellitus \| 2 C0027051 \| myocardial infarction \| 2 C0004134 \| ataxia \| 2 C0008148 \| chlamydia \| 2 C0022658 \| kidney disease \| 2 C0022661 \| chronic kidney disease \| 2 C0027051 \| myocardial infarct \| 2 C0035304 \| retinal degeneration \| 2 C0155626 \| acute myocardial infarction \| 1 C0024115 \| lung disease \| 1 C0001175 \| acquired immunodeficiency syndrome \| 1 C0086543 \| cataracts \| 1 C0028754 \| obesity \| 1 C0029124 \| optic atrophy \| 1 C0017601 \| glaucoma \| 1 C0001175 \| acquired immunodeficiency syndrome (aids) \| 1 C0035579 \| hypovitaminosis d \| 1 C0042165 \| anterior uveitis \| 1 C0018801 \| heart failure \| 1 C0035309 \| retinal disorders \| 1 C0002395 \| alzheimer's disease \| 1 C0027051 \| myocardial infarction (mi) \| 1 C0948265 \| metabolic syndrome \| 1 C0271084 \| exudative age-related macular degeneration \| 1 C0003850 \| arteriosclerosis \| 1 C0033847 \| pseudoxanthoma elasticum \| 1 C0035328 \| retinal vein occlusion \| 1 C0271051 \| macular edema \| 1 C0036454 \| visual field defects \| 1 C0014236 \| endophthalmitis \| 1 C0015397 \| eye disease \| 1 C0039446 \| telangiectasia \| 1 C0033687 \| proteinuria \| 1 C0032285 \| pneumoniae \| 1 C0036454 \| visual field defect \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:31) 2074 \| ERCC6 \| UniProtKB-KW;GHR 5961 \| PRPH2 \| GHR 735 \| C9 \| UniProtKB-KW 718 \| C3 \| UniProtKB-KW;GHR 2165 \| F13B \| GHR 7439 \| BEST1 \| GHR 6785 \| ELOVL4 \| UniProtKB-KW;GHR 7099 \| TLR4 \| UniProtKB-KW 1524 \| CX3CR1 \| UniProtKB-KW;GHR 348 \| APOE \| GHR 259266 \| ASPM \| GHR 5654 \| HTRA1 \| UniProtKB-KW;GHR 717 \| C2 \| GHR 7078 \| TIMP3 \| GHR 3426 \| CFI \| UniProtKB-KW;GHR 1471 \| CST3 \| UniProtKB-KW 10516 \| FBLN5 \| UniProtKB-KW;GHR 629 \| CFB \| GHR 3990 \| LIPC \| GHR 4133 \| MAP2 \| GHR 83872 \| HMCN1 \| UniProtKB-KW;GHR 8842 \| PROM1 \| UniProtKB-KW 84839 \| RAX2 \| UniProtKB-KW 54714 \| CNGB3 \| UniProtKB-KW 3080 \| CFHR2 \| GHR 3075 \| CFH \| UniProtKB-KW;GHR 1071 \| CETP \| GHR 81494 \| CFHR5 \| GHR 24 \| ABCA4 \| UniProtKB-KW;GHR 387715 \| ARMS2 \| UniProtKB-KW;GHR 10877 \| CFHR4 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:258) 19 \| ABCA1 \| CIPHER 24 \| ABCA4 \| CIPHER 137735 \| ABRA \| CIPHER 1636 \| ACE \| CIPHER 170691 \| ADAMTS17 \| CIPHER 11173 \| ADAMTS7 \| CIPHER 117 \| ADCYAP1R1 \| CIPHER 120 \| ADD3 \| CIPHER 178 \| AGL \| CIPHER 10554 \| AGPAT1 \| CIPHER 196 \| AHR \| CIPHER 199 \| AIF1 \| CIPHER 9049 \| AIP \| CIPHER 262 \| AMD1 \| CIPHER 339416 \| ANKRD45 \| CIPHER 84168 \| ANTXR1 \| CIPHER 54518 \| APBB1IP \| CIPHER 348 \| APOE \| CIPHER 319 \| APOF \| CIPHER 351 \| APP \| CIPHER 54622 \| ARL15 \| CIPHER 387715 \| ARMS2 \| CIPHER 259266 \| ASPM \| CIPHER 454 \| ASS1P9 \| CIPHER 50617 \| ATP6V0A4 \| CIPHER 6310 \| ATXN1 \| CIPHER 118663 \| BTBD16 \| CIPHER 55643 \| BTBD2 \| CIPHER 124773 \| C17orf64 \| CIPHER 114897 \| C1QTNF1 \| CIPHER 114902 \| C1QTNF5 \| CIPHER 717 \| C2 \| CIPHER 718 \| C3 \| CIPHER 719 \| C3AR1 \| CIPHER 722 \| C4BPA \| CIPHER 725 \| C4BPB \| CIPHER 727 \| C5 \| CIPHER 728 \| C5AR1 \| CIPHER 729 \| C6 \| CIPHER 50854 \| C6orf48 \| CIPHER 730 \| C7 \| CIPHER 731 \| C8A \| CIPHER 732 \| C8B \| CIPHER 157657 \| C8orf37 \| CIPHER 735 \| C9 \| CIPHER 10486 \| CAP2 \| CIPHER 23473 \| CAPN7 \| CIPHER 847 \| CAT \| CIPHER 54862 \| CC2D1A \| CIPHER 6347 \| CCL2 \| CIPHER 729230 \| CCR2 \| CIPHER 948 \| CD36 \| CIPHER 4179 \| CD46 \| CIPHER 1604 \| CD55 \| CIPHER 966 \| CD59 \| CIPHER 22918 \| CD93 \| CIPHER 83879 \| CDCA7 \| CIPHER 1009 \| CDH11 \| CIPHER 1071 \| CETP \| CIPHER 629 \| CFB \| CIPHER 1675 \| CFD \| CIPHER 3075 \| CFH \| CIPHER 3078 \| CFHR1 \| CIPHER 3080 \| CFHR2 \| CIPHER 10878 \| CFHR3 \| CIPHER 10877 \| CFHR4 \| CIPHER 81494 \| CFHR5 \| CIPHER 3426 \| CFI \| CIPHER 1121 \| CHM \| CIPHER 1191 \| CLU \| CIPHER 22866 \| CNKSR2 \| CIPHER 1295 \| COL8A1 \| CIPHER 1378 \| CR1 \| CIPHER 1380 \| CR2 \| CIPHER 23418 \| CRB1 \| CIPHER 1401 \| CRP \| CIPHER 64478 \| CSMD1 \| CIPHER 1471 \| CST3 \| CIPHER 1504 \| CTRB1 \| CIPHER 440387 \| CTRB2 \| CIPHER 1524 \| CX3CR1 \| CIPHER 1543 \| CYP1A1 \| CIPHER 1544 \| CYP1A2 \| CIPHER 1565 \| CYP2D6 \| CIPHER 1571 \| CYP2E1 \| CIPHER 10858 \| CYP46A1 \| CIPHER 267012 \| DAOA \| CIPHER 55157 \| DARS2 \| CIPHER 26528 \| DAZAP1 \| CIPHER 1630 \| DCC \| CIPHER 115752 \| DIS3L \| CIPHER 55816 \| DOK5 \| CIPHER 338599 \| DUPD1 \| CIPHER 144455 \| E2F7 \| CIPHER 10085 \| EDIL3 \| CIPHER 2202 \| EFEMP1 \| CIPHER 80864 \| EGFL8 \| CIPHER 79813 \| EHMT1 \| CIPHER 10919 \| EHMT2 \| CIPHER 2006 \| ELN \| CIPHER 6785 \| ELOVL4 \| CIPHER 64097 \| EPB41L4A \| CIPHER 2052 \| EPHX1 \| CIPHER 2068 \| ERCC2 \| CIPHER 2099 \| ESR1 \| CIPHER 2165 \| F13B \| CIPHER 3992 \| FADS1 \| CIPHER 400823 \| FAM177B \| CIPHER 10516 \| FBLN5 \| CIPHER 2201 \| FBN2 \| CIPHER 201456 \| FBXO15 \| CIPHER 2243 \| FGA \| CIPHER 2244 \| FGB \| CIPHER 2266 \| FGG \| CIPHER 63943 \| FKBPL \| CIPHER 23401 \| FRAT2 \| CIPHER 2618 \| GART \| CIPHER 2703 \| GJA8 \| CIPHER 390212 \| GPR152 \| CIPHER 2876 \| GPX1 \| CIPHER 2944 \| GSTM1 \| CIPHER 2950 \| GSTP1 \| CIPHER 2952 \| GSTT1 \| CIPHER 253018 \| HCG27 \| CIPHER 9709 \| HERPUD1 \| CIPHER 3105 \| HLA-A \| CIPHER 3106 \| HLA-B \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 83872 \| HMCN1 \| CIPHER 3350 \| HTR1A \| CIPHER 5654 \| HTRA1 \| CIPHER 29851 \| ICOS \| CIPHER 3586 \| IL10 \| CIPHER 3553 \| IL1B \| CIPHER 3569 \| IL6 \| CIPHER 3626 \| INHBC \| CIPHER 3684 \| ITGAM \| CIPHER 3689 \| ITGB2 \| CIPHER 343450 \| KCNT2 \| CIPHER 3791 \| KDR \| CIPHER 23046 \| KIF21B \| CIPHER 11278 \| KLF12 \| CIPHER 27252 \| KLHL20 \| CIPHER 442455 \| KRT8P27 \| CIPHER 3990 \| LIPC \| CIPHER 4023 \| LPL \| CIPHER 80741 \| LY6G5C \| CIPHER 259215 \| LY6G6F \| CIPHER 119180 \| LYZL2 \| CIPHER 4133 \| MAP2 \| CIPHER 5604 \| MAP2K1 \| CIPHER 5648 \| MASP1 \| CIPHER 10747 \| MASP2 \| CIPHER 27430 \| MAT2B \| CIPHER 4153 \| MBL2 \| CIPHER 4160 \| MC4R \| CIPHER 131572 \| MESTP4 \| CIPHER 4314 \| MMP3 \| CIPHER 4318 \| MMP9 \| CIPHER 128774 \| MRPS11P1 \| CIPHER 4439 \| MSH5 \| CIPHER 4478 \| MSN \| CIPHER 55154 \| MSTO1 \| CIPHER 9112 \| MTA1 \| CIPHER 55613 \| MTMR8 \| CIPHER 23026 \| MYO16 \| CIPHER 84700 \| MYO18B \| CIPHER 122830 \| NAA30 \| CIPHER 222236 \| NAPEPLD \| CIPHER 10 \| NAT2 \| CIPHER 4685 \| NCAM2 \| CIPHER 4724 \| NDUFS4 \| CIPHER 4781 \| NFIB \| CIPHER 4855 \| NOTCH4 \| CIPHER 4852 \| NPY \| CIPHER 84033 \| OBSCN \| CIPHER 403225 \| OR10V7P \| CIPHER 23762 \| OSBP2 \| CIPHER 29943 \| PADI1 \| CIPHER 142 \| PARP1 \| CIPHER 5208 \| PFKFB2 \| CIPHER 81579 \| PLA2G12A \| CIPHER 59338 \| PLEKHA1 \| CIPHER 58473 \| PLEKHB1 \| CIPHER 5444 \| PON1 \| CIPHER 404199 \| PPIHP2 \| CIPHER 53632 \| PRKAG3 \| CIPHER 5961 \| PRPH2 \| CIPHER 5663 \| PSEN1 \| CIPHER 5664 \| PSEN2 \| CIPHER 10728 \| PTGES3 \| CIPHER 5978 \| REST \| CIPHER 5993 \| RFX5 \| CIPHER 9783 \| RIMS3 \| CIPHER 7732 \| RNF112 \| CIPHER 54941 \| RNF125 \| CIPHER 6048 \| RNF5 \| CIPHER 6091 \| ROBO1 \| CIPHER 646898 \| RPL12P40 \| CIPHER 100270938 \| RPL17P12 \| CIPHER 391719 \| RPL19P8 \| CIPHER 643264 \| RPL21P106 \| CIPHER 100271170 \| RPL21P55 \| CIPHER 100129017 \| RPL24P5 \| CIPHER 441726 \| RPL28P4 \| CIPHER 100131358 \| RPL3P12 \| CIPHER 100271054 \| RPS12P6 \| CIPHER 100271586 \| RPS27P28 \| CIPHER 100270913 \| RPS2P25 \| CIPHER 101241875 \| RPS3AP1 \| CIPHER 100271596 \| RPS3AP46 \| CIPHER 6239 \| RREB1 \| CIPHER 949 \| SCARB1 \| CIPHER 10648 \| SCGB1D1 \| CIPHER 4250 \| SCGB2A2 \| CIPHER 6329 \| SCN4A \| CIPHER 6401 \| SELE \| CIPHER 223117 \| SEMA3D \| CIPHER 12 \| SERPINA3 \| CIPHER 5176 \| SERPINF1 \| CIPHER 710 \| SERPING1 \| CIPHER 6418 \| SET \| CIPHER 26040 \| SETBP1 \| CIPHER 6465 \| SHC1P1 \| CIPHER 6499 \| SKIV2L \| CIPHER 8170 \| SLC14A2 \| CIPHER 283652 \| SLC24A5 \| CIPHER 23443 \| SLC35A3 \| CIPHER 10302 \| SNAPC5 \| CIPHER 54212 \| SNTG1 \| CIPHER 6648 \| SOD2 \| CIPHER 6657 \| SOX2 \| CIPHER 6773 \| STAT2 \| CIPHER 8859 \| STK19 \| CIPHER 8224 \| SYN3 \| CIPHER 7078 \| TIMP3 \| CIPHER 7098 \| TLR3 \| CIPHER 7099 \| TLR4 \| CIPHER 51284 \| TLR7 \| CIPHER 80194 \| TMEM134 \| CIPHER 8797 \| TNFRSF10A \| CIPHER 64102 \| TNMD \| CIPHER 7148 \| TNXB \| CIPHER 10953 \| TOMM34 \| CIPHER 728402 \| TPI1P3 \| CIPHER 7103 \| TSPAN8 \| CIPHER 7386 \| UQCRFS1 \| CIPHER 389856 \| USP27X \| CIPHER 7410 \| VAV2 \| CIPHER 7422 \| VEGFA \| CIPHER 7448 \| VTN \| CIPHER 7515 \| XRCC1 \| CIPHER 55432 \| YOD1 \| CIPHER 55249 \| YY1AP1 \| CIPHER 221527 \| ZBTB12 \| CIPHER 360023 \| ZBTB41 \| CIPHER 27309 \| ZNF330 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:242) 2 \| A2M \| 1.456 \| DISEASES 19 \| ABCA1 \| 3.541 \| DISEASES 24 \| ABCA4 \| 7.279 \| DISEASES 9619 \| ABCG1 \| 1.759 \| DISEASES 39 \| ACAT2 \| 1.047 \| DISEASES 340485 \| ACER2 \| 1.143 \| DISEASES 11174 \| ADAMTS6 \| 1.282 \| DISEASES 56999 \| ADAMTS9 \| 2.492 \| DISEASES 51094 \| ADIPOR1 \| 1.04 \| DISEASES 84871 \| AGBL4 \| 3.242 \| DISEASES 199 \| AIF1 \| 3.002 \| DISEASES 262 \| AMD1 \| 2.194 \| DISEASES 283 \| ANG \| 1.625 \| DISEASES 284 \| ANGPT1 \| 1.816 \| DISEASES 22899 \| ARHGEF15 \| 1.398 \| DISEASES 387715 \| ARMS2 \| 7.393 \| DISEASES 468 \| ATF4 \| 2.045 \| DISEASES 10159 \| ATP6AP2 \| 1.515 \| DISEASES 51374 \| ATRAID \| 1.046 \| DISEASES 6314 \| ATXN7 \| 3.516 \| DISEASES 578 \| BAK1 \| 1.372 \| DISEASES 83875 \| BCO2 \| 2.665 \| DISEASES 627 \| BDNF \| 1.271 \| DISEASES 7439 \| BEST1 \| 6.701 \| DISEASES 144453 \| BEST3 \| 2.695 \| DISEASES 266675 \| BEST4 \| 3.25 \| DISEASES 656 \| BMP8B \| 1.479 \| DISEASES 6046 \| BRD2 \| 1.329 \| DISEASES 55108 \| BSDC1 \| 2.585 \| DISEASES 64115 \| C10orf54 \| 1.122 \| DISEASES 114902 \| C1QTNF5 \| 2.313 \| DISEASES 388939 \| C2orf71 \| 1.067 \| DISEASES 721 \| C4B \| 1.211 \| DISEASES 728 \| C5AR1 \| 1.717 \| DISEASES 221416 \| C6orf223 \| 2.261 \| DISEASES 834 \| CASP1 \| 2.557 \| DISEASES 100506742 \| CASP12 \| 2.048 \| DISEASES 79872 \| CBLL1 \| 1.179 \| DISEASES 23466 \| CBX6 \| 1.49 \| DISEASES 1232 \| CCR3 \| 2.93 \| DISEASES 966 \| CD59 \| 2.748 \| DISEASES 1003 \| CDH5 \| 1.24 \| DISEASES 1056 \| CEL \| 1.026 \| DISEASES 629 \| CFB \| 5.691 \| DISEASES 1675 \| CFD \| 2.887 \| DISEASES 3075 \| CFH \| 7.578 \| DISEASES 3080 \| CFHR2 \| 3.006 \| DISEASES 10878 \| CFHR3 \| 4.69 \| DISEASES 10877 \| CFHR4 \| 3.787 \| DISEASES 3426 \| CFI \| 4.813 \| DISEASES 1121 \| CHM \| 1.901 \| DISEASES 1137 \| CHRNA4 \| 1.136 \| DISEASES 1365 \| CLDN3 \| 1.399 \| DISEASES 7122 \| CLDN5 \| 1.458 \| DISEASES 27098 \| CLUL1 \| 1.778 \| DISEASES 1270 \| CNTF \| 2.575 \| DISEASES 80781 \| COL18A1 \| 3.445 \| DISEASES 78989 \| COLEC11 \| 1.226 \| DISEASES 1378 \| CR1 \| 2.124 \| DISEASES 23418 \| CRB1 \| 3.452 \| DISEASES 1415 \| CRYBB2 \| 2.019 \| DISEASES 1471 \| CST3 \| 1.992 \| DISEASES 1490 \| CTGF \| 2.028 \| DISEASES 1504 \| CTRB1 \| 1.201 \| DISEASES 1508 \| CTSB \| 1.05 \| DISEASES 1524 \| CX3CR1 \| 4.671 \| DISEASES 6387 \| CXCL12 \| 1.9 \| DISEASES 4283 \| CXCL9 \| 1.133 \| DISEASES 7852 \| CXCR4 \| 1.241 \| DISEASES 1544 \| CYP1A2 \| 1.017 \| DISEASES 1649 \| DDIT3 \| 1.726 \| DISEASES 22907 \| DHX30 \| 1.885 \| DISEASES 1730 \| DIAPH2 \| 2.088 \| DISEASES 23405 \| DICER1 \| 2.277 \| DISEASES 1791 \| DNTT \| 1.303 \| DISEASES 84677 \| DSCR8 \| 1.404 \| DISEASES 1893 \| ECM1 \| 1.369 \| DISEASES 374786 \| EFCAB5 \| 1.743 \| DISEASES 2202 \| EFEMP1 \| 5.029 \| DISEASES 163126 \| EID2 \| 1.095 \| DISEASES 6785 \| ELOVL4 \| 5.717 \| DISEASES 60481 \| ELOVL5 \| 1.301 \| DISEASES 2022 \| ENG \| 1.973 \| DISEASES 2045 \| EPHA7 \| 1.173 \| DISEASES 346007 \| EYS \| 1.254 \| DISEASES 7430 \| EZR \| 1.192 \| DISEASES 2159 \| F10 \| 2.003 \| DISEASES 2165 \| F13B \| 2.704 \| DISEASES 3992 \| FADS1 \| 1.938 \| DISEASES 9679 \| FAM53B \| 1.218 \| DISEASES 2189 \| FANCG \| 3.668 \| DISEASES 356 \| FASLG \| 1.799 \| DISEASES 2199 \| FBLN2 \| 1.44 \| DISEASES 10516 \| FBLN5 \| 3.681 \| DISEASES 129804 \| FBLN7 \| 1.649 \| DISEASES 55785 \| FGD6 \| 2.745 \| DISEASES 2246 \| FGF1 \| 1.463 \| DISEASES 2258 \| FGF13 \| 2.494 \| DISEASES 11259 \| FILIP1L \| 1.021 \| DISEASES 63943 \| FKBPL \| 2.197 \| DISEASES 2331 \| FMOD \| 1.432 \| DISEASES 25794 \| FSCN2 \| 3.617 \| DISEASES 8322 \| FZD4 \| 1.68 \| DISEASES 2730 \| GCLM \| 1.434 \| DISEASES 2668 \| GDNF \| 1.207 \| DISEASES 4935 \| GPR143 \| 1.892 \| DISEASES 10936 \| GPR75 \| 2.425 \| DISEASES 2875 \| GPT \| 1.58 \| DISEASES 2876 \| GPX1 \| 1.21 \| DISEASES 6011 \| GRK1 \| 2.105 \| DISEASES 146395 \| GSG1L \| 1.629 \| DISEASES 2950 \| GSTP1 \| 1.686 \| DISEASES 2975 \| GTF3C1 \| 1.473 \| DISEASES 3039 \| HBA1 \| 1.667 \| DISEASES 9734 \| HDAC9 \| 1.182 \| DISEASES 9843 \| HEPH \| 3.547 \| DISEASES 26508 \| HEYL \| 1.004 \| DISEASES 3091 \| HIF1A \| 2.123 \| DISEASES 9951 \| HS3ST4 \| 1.87 \| DISEASES 3309 \| HSPA5 \| 1.69 \| DISEASES 3316 \| HSPB2 \| 1.134 \| DISEASES 5654 \| HTRA1 \| 4.287 \| DISEASES 51214 \| IGF2-AS \| 1.045 \| DISEASES 3586 \| IL10 \| 1.44 \| DISEASES 3605 \| IL17A \| 1.719 \| DISEASES 90865 \| IL33 \| 1.153 \| DISEASES 3614 \| IMPDH1 \| 2.121 \| DISEASES 3617 \| IMPG1 \| 3.943 \| DISEASES 3684 \| ITGAM \| 2.093 \| DISEASES 3725 \| JUN \| 1.567 \| DISEASES 3778 \| KCNMA1 \| 4.145 \| DISEASES 55693 \| KDM4D \| 1.055 \| DISEASES 3875 \| KRT18 \| 2.267 \| DISEASES 3909 \| LAMA3 \| 1.221 \| DISEASES 9227 \| LRAT \| 2.114 \| DISEASES 5599 \| MAPK8 \| 2.298 \| DISEASES 7867 \| MAPKAPK3 \| 1.682 \| DISEASES 83552 \| MFRP \| 3.608 \| DISEASES 4312 \| MMP1 \| 1.004 \| DISEASES 4318 \| MMP9 \| 2.824 \| DISEASES 22921 \| MSRB2 \| 1.869 \| DISEASES 4490 \| MT1B \| 1.164 \| DISEASES 2475 \| MTOR \| 1.62 \| DISEASES 4550 \| MT-RNR2 \| 1.209 \| DISEASES 4647 \| MYO7A \| 1.841 \| DISEASES 10003 \| NAALAD2 \| 1.083 \| DISEASES 10763 \| NES \| 1.398 \| DISEASES 10725 \| NFAT5 \| 2.488 \| DISEASES 4780 \| NFE2L2 \| 2.391 \| DISEASES 114548 \| NLRP3 \| 2.735 \| DISEASES 4901 \| NRL \| 2.984 \| DISEASES 8828 \| NRP2 \| 1.562 \| DISEASES 93034 \| NT5C1B \| 2.669 \| DISEASES 51559 \| NT5DC3 \| 1.444 \| DISEASES 4942 \| OAT \| 1.356 \| DISEASES 10896 \| OCLM \| 1.482 \| DISEASES 100506658 \| OCLN \| 2.522 \| DISEASES 118427 \| OLFM3 \| 1.504 \| DISEASES 94233 \| OPN4 \| 2.612 \| DISEASES 26254 \| OPTC \| 3.002 \| DISEASES 143496 \| OR52B4 \| 2.613 \| DISEASES 5015 \| OTX2 \| 1.934 \| DISEASES 5027 \| P2RX7 \| 1.91 \| DISEASES 5034 \| P4HB \| 1.214 \| DISEASES 5080 \| PAX6 \| 1.258 \| DISEASES 5158 \| PDE6B \| 3.086 \| DISEASES 5155 \| PDGFB \| 1.392 \| DISEASES 56034 \| PDGFC \| 1.025 \| DISEASES 246330 \| PELI3 \| 1.9 \| DISEASES 5228 \| PGF \| 3.55 \| DISEASES 5251 \| PHEX \| 1.529 \| DISEASES 55361 \| PI4K2A \| 2.565 \| DISEASES 84647 \| PLA2G12B \| 1.61 \| DISEASES 59338 \| PLEKHA1 \| 4.929 \| DISEASES 23275 \| POFUT2 \| 1.388 \| DISEASES 5422 \| POLA1 \| 3.509 \| DISEASES 5535 \| PPP3R2 \| 1.553 \| DISEASES 768206 \| PRCD \| 1.351 \| DISEASES 8842 \| PROM1 \| 1.743 \| DISEASES 26121 \| PRPF31 \| 1.146 \| DISEASES 5743 \| PTGS2 \| 1.68 \| DISEASES 5787 \| PTPRB \| 1.3 \| DISEASES 5788 \| PTPRC \| 1.796 \| DISEASES 117177 \| RAB3IP \| 1.273 \| DISEASES 5890 \| RAD51B \| 2.763 \| DISEASES 5950 \| RBP4 \| 1.244 \| DISEASES 57109 \| REXO4 \| 1.443 \| DISEASES 5995 \| RGR \| 1.437 \| DISEASES 6005 \| RHAG \| 1.135 \| DISEASES 22999 \| RIMS1 \| 2.653 \| DISEASES 6015 \| RING1 \| 3.38 \| DISEASES 80196 \| RNF34 \| 1.385 \| DISEASES 94137 \| RP1L1 \| 4.893 \| DISEASES 6103 \| RPGR \| 2.684 \| DISEASES 6170 \| RPL39 \| 1.194 \| DISEASES 23212 \| RRS1 \| 1.066 \| DISEASES 6247 \| RS1 \| 4.252 \| DISEASES 6295 \| SAG \| 1.898 \| DISEASES 49855 \| SCAPER \| 1.606 \| DISEASES 5272 \| SERPINB9 \| 1.026 \| DISEASES 89790 \| SIGLEC10 \| 1.281 \| DISEASES 114132 \| SIGLEC11 \| 1.467 \| DISEASES 6499 \| SKIV2L \| 3.991 \| DISEASES 23539 \| SLC16A8 \| 2.91 \| DISEASES 6510 \| SLC1A5 \| 2.282 \| DISEASES 29957 \| SLC25A24 \| 1.797 \| DISEASES 91252 \| SLC39A13 \| 1.22 \| DISEASES 64116 \| SLC39A8 \| 1.383 \| DISEASES 388588 \| SMIM1 \| 1.258 \| DISEASES 116841 \| SNAP47 \| 1.702 \| DISEASES 692076 \| SNORD7 \| 1.281 \| DISEASES 6648 \| SOD2 \| 2.118 \| DISEASES 8878 \| SQSTM1 \| 2.052 \| DISEASES 6714 \| SRC \| 1.463 \| DISEASES 6430 \| SRSF5 \| 1.622 \| DISEASES 10948 \| STARD3 \| 1.594 \| DISEASES 6772 \| STAT1 \| 1.366 \| DISEASES 8224 \| SYN3 \| 1.679 \| DISEASES 6890 \| TAP1 \| 1.555 \| DISEASES 6905 \| TBCE \| 1.82 \| DISEASES 7010 \| TEK \| 2.089 \| DISEASES 7018 \| TF \| 1.846 \| DISEASES 7037 \| TFRC \| 1.021 \| DISEASES 7042 \| TGFB2 \| 2.113 \| DISEASES 7046 \| TGFBR1 \| 1.11 \| DISEASES 7058 \| THBS2 \| 1.537 \| DISEASES 7099 \| TLR4 \| 1.829 \| DISEASES 7124 \| TNF \| 3.143 \| DISEASES 64102 \| TNMD \| 2.729 \| DISEASES 7148 \| TNXB \| 1.052 \| DISEASES 94241 \| TP53INP1 \| 1.369 \| DISEASES 54209 \| TREM2 \| 1.009 \| DISEASES 23548 \| TTC33 \| 2.585 \| DISEASES 286753 \| TUSC5 \| 2.666 \| DISEASES 7295 \| TXN \| 1.813 \| DISEASES 90025 \| UBE3D \| 2.316 \| DISEASES 25972 \| UNC50 \| 1.78 \| DISEASES 7419 \| VDAC3 \| 1.069 \| DISEASES 7422 \| VEGFA \| 6.801 \| DISEASES 7436 \| VLDLR \| 3.336 \| DISEASES 11260 \| XPOT \| 1.393 \| DISEASES 55063 \| ZCWPW1 \| 1.039 \| DISEASES
Locus	(Waiting for update.)

Disease ID	319
Disease	macular degeneration
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:50) HP:0000572 \| Visual loss \| 39 HP:0000618 \| Blindness \| 28 HP:0011510 \| Drusen \| 26 HP:0000505 \| Poor vision \| 17 HP:0000518 \| Cataract \| 7 HP:0000488 \| Noninflammatory retina disease \| 5 HP:0000573 \| Retinal hemorrhage \| 5 HP:0000716 \| Depression \| 4 HP:0007902 \| Vitreous hemorrhage \| 4 HP:0001658 \| Myocardial infarction \| 3 HP:0000545 \| Near sightedness \| 3 HP:0000603 \| Central scotomata \| 3 HP:0000554 \| Uveitis \| 3 HP:0001297 \| Cerebral vascular events \| 3 HP:0007868 \| ARMD \| 2 HP:0000546 \| Retinal degeneration \| 2 HP:0011508 \| Macular hole \| 2 HP:0000575 \| Scotoma \| 2 HP:0002073 \| Cerebellar ataxia, progressive \| 2 HP:0001251 \| Ataxia \| 2 HP:0000819 \| Diabetes mellitus \| 2 HP:0012622 \| Chronic kidney disease \| 2 HP:0001009 \| Telangiectases \| 1 HP:0001123 \| Partial loss of field of vision \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0007722 \| Retinal pigment epithelial atrophy \| 1 HP:0011003 \| High myopia \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0040049 \| Macular edema \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0030503 \| Juxtafoveal telangiectasia \| 1 HP:0001513 \| Obesity \| 1 HP:0007401 \| Macular atrophy \| 1 HP:0002634 \| Arteriosclerosis \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0000738 \| Sensory hallucination \| 1 HP:0012122 \| Anterior uveitis \| 1 HP:0030666 \| Retinal neovascularisation \| 1 HP:0000093 \| Proteinuria \| 1 HP:0000501 \| Glaucoma \| 1 HP:0000969 \| Dropsy \| 1 HP:0001141 \| Severe visual impairment \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0003613 \| Antiphospholipid antibodies \| 1 HP:0002367 \| Visual hallucinations \| 1 HP:0100699 \| Scarring \| 1 HP:0012636 \| Retinal vein occlusion \| 1

Disease ID	319
Disease	macular degeneration
Manually Symptom	UMLS \| Name(Total Manually Symptoms:11) C1962983 \| cataract C1801950 \| g syndrome C0456909 \| vision loss C0456909 \| blindness C0339546 \| retinal pigment epithelial detachment C0233763 \| visual hallucinations C0036454 \| scotoma C0035334 \| retinitis pigmentosa C0035312 \| retinal drusen C0019080 \| hemorrhage C0015397 \| eye disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0456909 \| vision loss \| 30 C0456909 \| blindness \| 28 C0019080 \| hemorrhage \| 19 C0086543 \| cataract \| 6 C0339546 \| retinal pigment epithelial detachment \| 4 C0036454 \| scotoma \| 2 C0015397 \| eye disease \| 1 C0233763 \| visual hallucinations \| 1 C0035312 \| retinal drusen \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:92)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10490923	23534868	387715	ARMS2	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.007057489	2014	ARMS2;LOC105378525	10	122454735	G	A
rs10490923	23534868	5654	HTRA1	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.005428837	2014	ARMS2;LOC105378525	10	122454735	G	A
rs10490923	23534868	3075	CFH	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.011129117	2014	ARMS2;LOC105378525	10	122454735	G	A
rs10490924	22491416	387715	ARMS2	umls:C0024437	BeFree	After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with exudative AMD (P = 0.011), but not with PCV (P = 0.077).	0.007057489	2012	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	18164066	5654	HTRA1	umls:C0024437	BeFree	The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs11200638, showed as strong an association with increased susceptibility to neovascular AMD.	0.005428837	2008	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	18054635	387715	ARMS2	umls:C0024437	BeFree	The AMD-associated CFH Y402H and LOC387715 A69S variants were associated with differences in choroidal neovascular lesion size in this study.	0.007057489	2007	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	18164066	387715	ARMS2	umls:C0024437	BeFree	Many single-nucleotide polymorphisms (SNPs), including the previously reported variants rs10490924 (hypothetical LOC387715/ARMS2) and rs11200638 (HTRA1), defined 2 significant haplotypes associated with increased risk of neovascular AMD.	0.007057489	2008	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	22809783	387715	ARMS2	umls:C0024437	BeFree	ARMS2 A69S genotype is associated with second-eye involvement of exudative AMD and with the period between first- and second-eye involvements.	0.007057489	2012	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	24865191	387715	ARMS2	umls:C0024437	BeFree	After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular AMD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011).	0.007057489	2015	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	18292785	3075	CFH	umls:C0024437	BeFree	Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and LOC387715 A69S polymorphisms by allele-specific digestion of PCR products.	0.011129117	2009	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	18292785	387715	ARMS2	umls:C0024437	BeFree	Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and LOC387715 A69S polymorphisms by allele-specific digestion of PCR products.	0.007057489	2009	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	24362810	387715	ARMS2	umls:C0024437	BeFree	After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001).	0.007057489	2013	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	22219653	387715	ARMS2	umls:C0024437	BeFree	Our meta-analysis provides substantial evidence that the ARMS2 A69S variant confers a significantly higher risk of neovascular AMD than PCV.	0.007057489	2011	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	24362810	3075	CFH	umls:C0024437	BeFree	After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001).	0.011129117	2013	ARMS2;LOC105378525	10	122454932	G	T
rs10490924	25185256	387715	ARMS2	umls:C0024437	BeFree	Association between variants A69S in ARMS2 gene and response to treatment of exudative AMD: a meta-analysis.	0.007057489	2014	ARMS2;LOC105378525	10	122454932	G	T
rs1061170	20456446	3075	CFH	umls:C0024437	BeFree	The joint effects for complement factor H (CFH) Y402H and 10q26 variants indicated an increased risk of exudative AMD.	0.011129117	2010	CFH	1	196690107	C	T
rs1061170	16300415	3075	CFH	umls:C0024437	BeFree	CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD.	0.011129117	2006	CFH	1	196690107	C	T
rs1061170	18292785	3075	CFH	umls:C0024437	BeFree	Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and LOC387715 A69S polymorphisms by allele-specific digestion of PCR products.	0.011129117	2009	CFH	1	196690107	C	T
rs1061170	19899988	629	CFB	umls:C0024437	BeFree	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was significnatly associated with increased risk for AMD (OR 3.09, 95% CI 1.55-6.15, p < 0.001).	0.000814326	2009	CFH	1	196690107	C	T
rs1061170	19692124	1401	CRP	umls:C0024437	BeFree	Our data did not show significant association between the CFH Y402H polymorphism and PDT treatment response for neovascular AMD; however, CRP genetic variants were associated with a positive response to PDT treatment for neovascular AMD.	0.001085767	2009	CFH	1	196690107	C	T
rs1061170	16865697	3075	CFH	umls:C0024437	BeFree	Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.	0.011129117	2006	CFH	1	196690107	C	T
rs1061170	21158586	7422	VEGFA	umls:C0024437	BeFree	To determine serum vascular endothelial growth factor 165 (VEGF165) levels and the association of the complement factor H gene (CFH) Y402H polymorphism in patients with exudative age-related macular degeneration (AMD) in comparison to unaffected control subjects.	0.004614512	2011	CFH	1	196690107	C	T
rs1061170	24080590	7422	VEGFA	umls:C0024437	BeFree	Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.	0.004614512	2013	CFH	1	196690107	C	T
rs1061170	21158586	3075	CFH	umls:C0024437	BeFree	To determine serum vascular endothelial growth factor 165 (VEGF165) levels and the association of the complement factor H gene (CFH) Y402H polymorphism in patients with exudative age-related macular degeneration (AMD) in comparison to unaffected control subjects.	0.011129117	2011	CFH	1	196690107	C	T
rs1061170	24362810	387715	ARMS2	umls:C0024437	BeFree	After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001).	0.007057489	2013	CFH	1	196690107	C	T
rs1061170	18223247	3075	CFH	umls:C0024437	BeFree	Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans.	0.011129117	2008	CFH	1	196690107	C	T
rs1061170	24113783	3075	CFH	umls:C0024437	BeFree	There was a trend for association between the CFH Y402H T allele (low risk for AMD, n = 6) and improvement.	0.011129117	2014	CFH	1	196690107	C	T
rs1061170	23103884	387715	ARMS2	umls:C0024437	BeFree	AMD patients with risk variants at rs1061170 (CFH:p.Y402H) and ARMS2 and smokers (≥20 packs/year) were significantly earlier affected by AMD than those carrying the non-risk variants at each locus.	0.007057489	2013	CFH	1	196690107	C	T
rs1061170	24080590	3075	CFH	umls:C0024437	BeFree	Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.	0.011129117	2013	CFH	1	196690107	C	T
rs1061170	17398321	3075	CFH	umls:C0024437	BeFree	Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Central European population.	0.011129117	2007	CFH	1	196690107	C	T
rs1061170	19692124	3075	CFH	umls:C0024437	BeFree	Our data did not show significant association between the CFH Y402H polymorphism and PDT treatment response for neovascular AMD; however, CRP genetic variants were associated with a positive response to PDT treatment for neovascular AMD.	0.011129117	2009	CFH	1	196690107	C	T
rs1061170	18292785	387715	ARMS2	umls:C0024437	BeFree	Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and LOC387715 A69S polymorphisms by allele-specific digestion of PCR products.	0.007057489	2009	CFH	1	196690107	C	T
rs1061170	24362810	3075	CFH	umls:C0024437	BeFree	After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001).	0.011129117	2013	CFH	1	196690107	C	T
rs1061170	19899988	3075	CFH	umls:C0024437	BeFree	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was significnatly associated with increased risk for AMD (OR 3.09, 95% CI 1.55-6.15, p < 0.001).	0.011129117	2009	CFH	1	196690107	C	T
rs1061170	23204795	3075	CFH	umls:C0024437	BeFree	The purpose of this study was to determine the pharmacogenetic effects of complement factor H (CFH) Y402H, LOC387715 and high-temperature requirement factor A1 (HTRA1) genotypes on the treatment of exudative age-related macular degeneration (AMD) by intravitreal bevacizumab injection in a Korean population.	0.011129117	2012	CFH	1	196690107	C	T
rs111033578	16123441	114902	C1QTNF5	umls:C0024437	BeFree	All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner.	0.001085767	2005	MFRP;C1QTNF5	11	119339574	G	C
rs112000638	23534868	5654	HTRA1	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.005428837	2014	NA	11	131359434	T	C
rs112000638	23534868	387715	ARMS2	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.007057489	2014	NA	11	131359434	T	C
rs112000638	23534868	3075	CFH	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.011129117	2014	NA	11	131359434	T	C
rs11200638	24393350	5654	HTRA1	umls:C0024437	BeFree	Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA).	0.005428837	2013	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	18164066	5654	HTRA1	umls:C0024437	BeFree	The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs11200638, showed as strong an association with increased susceptibility to neovascular AMD.	0.005428837	2008	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	24080590	7422	VEGFA	umls:C0024437	BeFree	Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.	0.004614512	2013	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	25277308	5654	HTRA1	umls:C0024437	BeFree	Furthermore, FPR1 rs78488639 CA combining with HTRA1 rs11200638 and smoking was also predisposed risks to exudative AMD and PCV.	0.005428837	2014	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	22491416	387715	ARMS2	umls:C0024437	BeFree	After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with exudative AMD (P = 0.011), but not with PCV (P = 0.077).	0.007057489	2012	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	24080590	3075	CFH	umls:C0024437	BeFree	Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.	0.011129117	2013	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	24393350	3075	CFH	umls:C0024437	BeFree	Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA).	0.011129117	2013	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	23260260	5654	HTRA1	umls:C0024437	BeFree	The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.	0.005428837	2013	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	18164066	387715	ARMS2	umls:C0024437	BeFree	Many single-nucleotide polymorphisms (SNPs), including the previously reported variants rs10490924 (hypothetical LOC387715/ARMS2) and rs11200638 (HTRA1), defined 2 significant haplotypes associated with increased risk of neovascular AMD.	0.007057489	2008	HTRA1;LOC105378525	10	122461028	G	A
rs11200638	23260260	3075	CFH	umls:C0024437	BeFree	The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.	0.011129117	2013	HTRA1;LOC105378525	10	122461028	G	A
rs1136287	19503741	5176	SERPINF1	umls:C0024437	BeFree	We report a lack of association between the PEDF Met72Thr variant and either neovascular AMD or PCV in a Japanese population.	0.000814326	2009	SERPINF1	17	1769982	C	T
rs121434491	17666404	2202	EFEMP1	umls:C0024437	BeFree	The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.	0.001085767	2007	EFEMP1;LOC105374679	2	55871091	G	A
rs121913059	24498017	1295	COL8A1	umls:C0024437	BeFree	Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.	0.000271442	2013	CFH	1	196747245	C	T
rs121913059	24498017	3075	CFH	umls:C0024437	BeFree	Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.	0.011129117	2013	CFH	1	196747245	C	T
rs121913059	24498017	5890	RAD51B	umls:C0024437	BeFree	Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.	0.000271442	2013	CFH	1	196747245	C	T
rs1410996	19850835	3075	CFH	umls:C0024437	BeFree	The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk of exudative AMD in a Chinese population.	0.011129117	2010	CFH	1	196727803	G	A
rs1410996	23534868	387715	ARMS2	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.007057489	2014	CFH	1	196727803	G	A
rs1410996	23534868	3075	CFH	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.011129117	2014	CFH	1	196727803	G	A
rs1410996	23534868	5654	HTRA1	umls:C0024437	BeFree	CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.	0.005428837	2014	CFH	1	196727803	G	A
rs1413711	24080590	3075	CFH	umls:C0024437	BeFree	Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.	0.011129117	2013	VEGFA	6	43772941	T	C
rs1413711	24080590	7422	VEGFA	umls:C0024437	BeFree	Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined.	0.004614512	2013	VEGFA	6	43772941	T	C
rs148957473	16384943	30813	VSX1	umls:C0024437	BeFree	H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.	0.000271442	2006	VSX1	20	25077762	T	C
rs1801133	22065928	2006	ELN	umls:C0024437	BeFree	In contrast, there were significant differences in the genotype distribution between the controls and nAMD patients only for rs2301995 (ELN, p=0.022) and rs1801133 (MTHFR, p=2.50×10(-3)).	0.000814326	2011	MTHFR	1	11796321	G	A
rs1870377	22919317	7422	VEGFA	umls:C0024437	BeFree	Two SNPs (rs2071559 and rs1870377) of VEGF-A receptor-2 (VEGFR-2) gene were analyzed with the technique of Real-Time PCR to investigate a genetic link between AMD and VEGFR-2 gene polymorphisms in Italian patients.	0.004614512	2012	KDR	4	55106807	T	A
rs2014307	18541031	5654	HTRA1	umls:C0024437	BeFree	Other than variants on 1q32-q22, only two SNPs, rs9288410 (MAP2) on 2q34-q35 and rs2014307 (PLEKHA1/HTRA1) on 10q26 were significantly associated with AMD status (P = .03 and P < 10-6 respectively).	0.005428837	2008	LOC105378525	10	122458116	T	G
rs2071559	22919317	3791	KDR	umls:C0024437	BeFree	In conclusion, although with the limitations of a small sample size and the few SNPs studied, this study demonstrates a lower frequency of VEGFR-2 rs2071559 AA genotype in an AMD patient population, suggesting future studies on the role VEGFR-2 SNPs.	0.001357209	2012	KDR	4	55126199	A	G
rs2071559	22919317	7422	VEGFA	umls:C0024437	BeFree	Two SNPs (rs2071559 and rs1870377) of VEGF-A receptor-2 (VEGFR-2) gene were analyzed with the technique of Real-Time PCR to investigate a genetic link between AMD and VEGFR-2 gene polymorphisms in Italian patients.	0.004614512	2012	KDR	4	55126199	A	G
rs2293870	18164066	5654	HTRA1	umls:C0024437	BeFree	The coding HTRA1 SNP rs2293870, not part of the significant haplotypes containing rs10490924 and rs11200638, showed as strong an association with increased susceptibility to neovascular AMD.	0.005428837	2008	HTRA1;LOC105378525	10	122461760	G	C,T
rs2301995	22065928	2006	ELN	umls:C0024437	BeFree	In contrast, there were significant differences in the genotype distribution between the controls and nAMD patients only for rs2301995 (ELN, p=0.022) and rs1801133 (MTHFR, p=2.50×10(-3)).	0.000814326	2011	ELN	7	74037810	G	A
rs3732378	21621535	1524	CX3CR1	umls:C0024437	BeFree	No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.	0.000814326	2011	CX3CR1	3	39265671	G	A
rs380390	16754848	3075	CFH	umls:C0024437	BeFree	ERCC6 C-6530>G was associated with AMD susceptibility, both independently and through interaction with an SNP (rs380390) in the complement factor H (CFH) intron reported to be highly associated with AMD.	0.011129117	2006	CFH	1	196731921	G	T,C
rs4151667	19899988	629	CFB	umls:C0024437	BeFree	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was significnatly associated with increased risk for AMD (OR 3.09, 95% CI 1.55-6.15, p < 0.001).	0.000814326	2009	CFB	6	31946247	T	A
rs4151667	19899988	3075	CFH	umls:C0024437	BeFree	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was significnatly associated with increased risk for AMD (OR 3.09, 95% CI 1.55-6.15, p < 0.001).	0.011129117	2009	CFB	6	31946247	T	A
rs429608	24865191	387715	ARMS2	umls:C0024437	BeFree	After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular AMD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011).	0.007057489	2015	SKIV2L	6	31962685	G	A
rs429608	23260260	5654	HTRA1	umls:C0024437	BeFree	The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.	0.005428837	2013	SKIV2L	6	31962685	G	A
rs429608	23260260	3075	CFH	umls:C0024437	BeFree	The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.	0.011129117	2013	SKIV2L	6	31962685	G	A
rs429608	23260260	7936	NELFE	umls:C0024437	BeFree	The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003).	0.000271442	2013	SKIV2L	6	31962685	G	A
rs453821	23260260	7936	NELFE	umls:C0024437	BeFree	The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003).	0.000271442	2013	SKIV2L	6	31967534	C	T
rs547154	23260260	7936	NELFE	umls:C0024437	BeFree	The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003).	0.000271442	2013	C2;C2-AS1	6	31943161	G	T
rs61755792	9810570	5961	PRPH2	umls:C0024437	BeFree	Earlier, the peripherin/RDS Arg-172-Trp mutation was associated primarily with a macular degeneration phenotype.	0.001628651	1998	PRPH2	6	42721821	G	C,A
rs61755792	9810570	5630	PRPH	umls:C0024437	BeFree	Earlier, the peripherin/RDS Arg-172-Trp mutation was associated primarily with a macular degeneration phenotype.	0.000814326	1998	PRPH2	6	42721821	G	C,A
rs61755792	24463884	5961	PRPH2	umls:C0024437	BeFree	Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.	0.001628651	2015	PRPH2	6	42721821	G	C,A
rs641153	19899988	3075	CFH	umls:C0024437	BeFree	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was significnatly associated with increased risk for AMD (OR 3.09, 95% CI 1.55-6.15, p < 0.001).	0.011129117	2009	CFB	6	31946403	G	T,A
rs641153	19899988	629	CFB	umls:C0024437	BeFree	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was significnatly associated with increased risk for AMD (OR 3.09, 95% CI 1.55-6.15, p < 0.001).	0.000814326	2009	CFB	6	31946403	G	T,A
rs760070	23260260	7936	NELFE	umls:C0024437	BeFree	The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003).	0.000271442	2013	CFB;NELFE	6	31952179	T	C
rs78488639	25277308	3075	CFH	umls:C0024437	BeFree	Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2.22 × 10(-4), OR=10.47), but not exudative AMD.	0.011129117	2014	FPR1	19	51746706	G	A,T
rs78488639	25277308	5654	HTRA1	umls:C0024437	BeFree	Furthermore, FPR1 rs78488639 CA combining with HTRA1 rs11200638 and smoking was also predisposed risks to exudative AMD and PCV.	0.005428837	2014	FPR1	19	51746706	G	A,T
rs800292	25277308	3075	CFH	umls:C0024437	BeFree	Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2.22 × 10(-4), OR=10.47), but not exudative AMD.	0.011129117	2014	CFH	1	196673103	G	A
rs800292	23260260	3075	CFH	umls:C0024437	BeFree	The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.	0.011129117	2013	CFH	1	196673103	G	A
rs800292	24393350	3075	CFH	umls:C0024437	BeFree	Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA).	0.011129117	2013	CFH	1	196673103	G	A
rs800292	23260260	5654	HTRA1	umls:C0024437	BeFree	The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH rs800292 and HTRA1 rs11200638.	0.005428837	2013	CFH	1	196673103	G	A
rs800292	24393350	5654	HTRA1	umls:C0024437	BeFree	Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known AMD-associated SNPs, rs800292 (from complement factor H [CFH]) and rs11200638 (from HtrA serine peptidase 1 [HTRA1]), were genotyped in all study subjects using the TaqMan genotyping technology (Applied Biosystems, Foster City, CA).	0.005428837	2013	CFH	1	196673103	G	A
rs9288410	18541031	5654	HTRA1	umls:C0024437	BeFree	Other than variants on 1q32-q22, only two SNPs, rs9288410 (MAP2) on 2q34-q35 and rs2014307 (PLEKHA1/HTRA1) on 10q26 were significantly associated with AMD status (P = .03 and P < 10-6 respectively).	0.005428837	2008	MAP2	2	209633537	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	319
Disease	macular degeneration
Case	(Waiting for update.)