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ONTOLOGY REPORT - ANNOTATIONS


Term:Reduced visual acuity
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Accession:HP:0007663 term browser browse the term
Synonyms:exact_synonym: Decreased central vision;   Decreased clarity of vision;   Decreased visual acuity;   Poor visual acuity
 alt_id: HP:0001091;   HP:0007693;   HP:0007739;   HP:0007969;   HP:0008008
 xref: SNOMEDCT_US:13164000;   UMLS:C0234632


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Reduced visual acuity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 1 93,992,834 94,121,148 RGD:8699517
G ABCC6 ATP binding cassette subfamily C member 6 JBrowse link 16 16,149,565 16,223,617 RGD:8699517
G ACO2 aconitase 2 JBrowse link 22 41,468,756 41,528,979 RGD:8699517
G AHR aryl hydrocarbon receptor JBrowse link 7 17,298,652 17,346,147 RGD:8699517
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 JBrowse link 17 6,423,738 6,435,121 RGD:8699517
G AIRE autoimmune regulator JBrowse link 21 44,285,876 44,298,648 RGD:8699517
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 5 78,000,522 78,294,704 RGD:8699517
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 JBrowse link 19 7,348,901 7,476,990 RGD:8699517
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein JBrowse link 16 57,245,259 57,253,635 RGD:8699517
G ARL3 ADP ribosylation factor like GTPase 3 JBrowse link 10 102,673,731 102,714,397 RGD:8699517
G ARMC9 armadillo repeat containing 9 JBrowse link 2 231,198,628 231,394,991 RGD:8699517
G ARSA arylsulfatase A JBrowse link 22 50,622,754 50,628,152 RGD:8699517
G ATF6 activating transcription factor 6 JBrowse link 1 161,766,320 161,964,070 RGD:8699517
G BEST1 bestrophin 1 JBrowse link 11 61,946,722 61,965,515 RGD:8699517
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 19 45,178,784 45,202,715 RGD:8699517
G C12orf65 chromosome 12 open reading frame 65 JBrowse link 12 123,233,436 123,257,960 RGD:8699517
G C8orf37 chromosome 8 open reading frame 37 JBrowse link 8 95,244,913 95,269,201 RGD:8699517
G CABP4 calcium binding protein 4 JBrowse link 11 67,452,403 67,461,774 RGD:8699517
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 49,205,063 49,233,404 RGD:8699517
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 12 1,791,963 1,922,606 RGD:8699517
G CDC42 cell division cycle 42 JBrowse link 1 22,052,709 22,101,360 RGD:8699517
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8699517
G CHP1 calcineurin like EF-hand protein 1 JBrowse link 15 41,231,156 41,281,887 RGD:8699517
G CHRDL1 chordin like 1 JBrowse link X 110,673,856 110,795,817 RGD:8699517
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,444,933 1,475,084 RGD:8699517
G CLRN1 clarin 1 JBrowse link 3 150,926,163 150,972,999 RGD:8699517
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 8 86,573,608 86,743,675 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8657393
G CRB1 crumbs cell polarity complex component 1 JBrowse link 1 197,201,504 197,478,455 RGD:8699517
G CRX cone-rod homeobox JBrowse link 19 47,821,937 47,843,324 RGD:8699517
G DLD dihydrolipoamide dehydrogenase JBrowse link 7 107,891,107 107,921,198 RGD:8699517
G DRAM2 DNA damage regulated autophagy modulator 2 JBrowse link 1 111,117,170 111,140,216 RGD:8699517
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,803 15,663,058 RGD:8699517
G ELOVL1 ELOVL fatty acid elongase 1 JBrowse link 1 43,363,397 43,368,074 RGD:8699517
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 79,914,814 79,947,553 RGD:8699517
G ESR2 estrogen receptor 2 JBrowse link 14 64,226,707 64,338,631 RGD:8553208
G FBN2 fibrillin 2 JBrowse link 5 128,257,909 128,538,245 RGD:8699517
G FRMD7 FERM domain containing 7 JBrowse link X 132,074,926 132,128,022 RGD:8699517
G FXN frataxin JBrowse link 9 69,035,752 69,079,076 RGD:8699517
G FZD4 frizzled class receptor 4 JBrowse link 11 86,945,679 86,955,395 RGD:8699517
G GNAT1 G protein subunit alpha transducin 1 JBrowse link 3 50,191,610 50,197,696 RGD:8699517
G GNB3 G protein subunit beta 3 JBrowse link 12 6,840,922 6,847,393 RGD:8699517
G GPR179 G protein-coupled receptor 179 JBrowse link 17 38,324,571 38,343,956 RGD:8699517
G GRHL2 grainyhead like transcription factor 2 JBrowse link 8 101,492,439 101,678,104 RGD:8699517
G GRK1 G protein-coupled receptor kinase 1 JBrowse link 13 113,645,771 113,737,736 RGD:8699517
G GRM6 glutamate metabotropic receptor 6 JBrowse link 5 178,978,327 178,995,320 RGD:8699517
G GUCA1A guanylate cyclase activator 1A JBrowse link 6 42,155,406 42,180,056 RGD:8699517
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,002,615 8,020,342 RGD:8699517
G HK1 hexokinase 1 JBrowse link 10 69,269,991 69,401,882 RGD:8699517
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 26,443,109 26,483,863 RGD:8699517
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 18,278,670 18,322,498 RGD:8699517
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,065,349 102,068,036 RGD:8699517
G HSPA1B heat shock protein family A (Hsp70) member 1B JBrowse link 6 31,827,738 31,830,254 RGD:8662462
G IMPDH1 inosine monophosphate dehydrogenase 1 JBrowse link 7 128,392,277 128,409,989 RGD:8699517
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 3 101,222,546 101,320,575 RGD:8699517
G INPP5E inositol polyphosphate-5-phosphatase E JBrowse link 9 136,428,619 136,439,861 RGD:8699517
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 JBrowse link 2 232,765,802 232,776,565 RGD:8699517
G KIDINS220 kinase D interacting substrate 220 JBrowse link 2 8,721,081 8,837,613 RGD:8699517
G KIF11 kinesin family member 11 JBrowse link 10 92,593,130 92,655,395 RGD:8699517
G KIF1C kinesin family member 1C JBrowse link 17 4,997,950 5,028,401 RGD:8699517
G KRT12 keratin 12 JBrowse link 17 40,861,303 40,867,223 RGD:8699517
G LRAT lecithin retinol acyltransferase JBrowse link 4 154,740,841 154,753,120 RGD:8699517
G LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 JBrowse link 4 109,848,107 109,872,315 RGD:8699517
G LRP5 LDL receptor related protein 5 JBrowse link 11 68,298,866 68,449,275 RGD:8699517
G LRPAP1 LDL receptor related protein associated protein 1 JBrowse link 4 3,503,597 3,532,497 RGD:8699517
G LYST lysosomal trafficking regulator JBrowse link 1 235,661,031 235,883,713 RGD:8699517
G MAG myelin associated glycoprotein JBrowse link 19 35,292,086 35,313,807 RGD:8699517
G MAPKAPK3 MAPK activated protein kinase 3 JBrowse link 3 50,611,862 50,649,297 RGD:8699517
G MARK3 microtubule affinity regulating kinase 3 JBrowse link 14 103,385,364 103,503,831 RGD:8699517
G MC1R melanocortin 1 receptor JBrowse link 16 89,918,862 89,920,972 RGD:8699517
G MFRP membrane frizzled-related protein JBrowse link 11 119,338,942 119,346,705 RGD:8699517
RGD:11553925
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 4 127,917,732 127,965,988 RGD:8699517
G MIR184 microRNA 184 JBrowse link 15 79,209,788 79,209,871 RGD:8699517
G MIR204 microRNA 204 JBrowse link 9 70,809,975 70,810,084 RGD:8699517
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,464 69,968,337 RGD:8699517
G MMACHC metabolism of cobalamin associated C JBrowse link 1 45,500,229 45,513,382 RGD:8699517
G MMP19 matrix metallopeptidase 19 JBrowse link 12 55,835,433 55,842,971 RGD:8699517
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:8657116
RGD:8657118
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 14,149 14,673 RGD:8657119
RGD:8657123
G MTFMT mitochondrial methionyl-tRNA formyltransferase JBrowse link 15 65,001,512 65,029,639 RGD:8699517
G MYOC myocilin JBrowse link 1 171,635,417 171,652,688 RGD:7394834
RGD:7401168
G NBAS NBAS subunit of NRZ tethering complex JBrowse link 2 14,998,067 15,561,344 RGD:8699517
G NDP norrin cystine knot growth factor NDP JBrowse link X 43,948,776 43,973,390 RGD:8699517
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 5 93,583,222 93,594,613 RGD:8699517
G NYX nyctalopin JBrowse link X 41,447,343 41,475,652 RGD:8699517
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:8699517
RGD:9491819
G OCRL OCRL inositol polyphosphate-5-phosphatase JBrowse link X 129,540,259 129,592,556 RGD:8699517
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8699517
RGD:7800715
RGD:7800708
RGD:7800704
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 45,527,427 45,584,802 RGD:8699517
G OPN1LW opsin 1, long wave sensitive JBrowse link X 154,144,243 154,159,032 RGD:8699517
G OPN1MW opsin 1, medium wave sensitive JBrowse link X 154,182,596 154,196,861 RGD:8699517
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:8699517
RGD:8551870
G PDE6B phosphodiesterase 6B JBrowse link 4 587,325 670,892 RGD:8699517
G PDE6C phosphodiesterase 6C JBrowse link 10 93,612,537 93,666,010 RGD:8699517
G PDE6H phosphodiesterase 6H JBrowse link 12 14,973,042 14,981,865 RGD:8699517
G PITPNM3 PITPNM family member 3 JBrowse link 17 6,451,263 6,556,555 RGD:8699517
G POC1B POC1 centriolar protein B JBrowse link 12 89,419,718 89,526,047 RGD:8699517
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:8699517
G POMK protein O-mannose kinase JBrowse link 8 43,093,506 43,123,434 RGD:8699517
G PORCN porcupine O-acyltransferase JBrowse link X 48,508,992 48,520,814 RGD:8699517
G PRDX1 peroxiredoxin 1 JBrowse link 1 45,511,035 45,522,890 RGD:8699517
G PRIMPOL primase and DNA directed polymerase JBrowse link 4 184,649,672 184,694,952 RGD:8699517
G PROM1 prominin 1 JBrowse link 4 15,968,226 16,084,059 RGD:8699517
G PRPF31 pre-mRNA processing factor 31 JBrowse link 19 54,115,706 54,131,719 RGD:8699517
G PRPF6 pre-mRNA processing factor 6 JBrowse link 20 63,981,132 64,033,100 RGD:8699517
G PRPH2 peripherin 2 JBrowse link 6 42,694,509 42,723,039 RGD:8699517
G PSAP prosaposin JBrowse link 10 71,816,298 71,851,251 RGD:8699517
G PUF60 poly(U) binding splicing factor 60 JBrowse link 8 143,816,344 143,829,315 RGD:8699517
G RBP3 retinol binding protein 3 JBrowse link 10 47,348,363 47,357,881 RGD:8699517
G RBP4 retinol binding protein 4 JBrowse link 10 93,591,694 93,601,744 RGD:8699517
G RCBTB1 RCC1 and BTB domain containing protein 1 JBrowse link 13 49,531,944 49,585,587 RGD:8699517
G REEP6 receptor accessory protein 6 JBrowse link 19 1,491,181 1,497,927 RGD:8699517
G RFT1 RFT1 homolog JBrowse link 3 53,071,151 53,130,469 RGD:8699517
G RHO rhodopsin JBrowse link 3 129,528,639 129,535,344 RGD:8699517
RGD:8548518
RGD:8547991
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 38,269,163 38,327,509 RGD:8699517
RGD:8553198
RGD:8553233
RGD:8553227
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 21,287,977 21,351,316 RGD:8699517
G RTN4IP1 reticulon 4 interacting protein 1 JBrowse link 6 106,559,237 106,630,921 RGD:8699517
G SAG S-antigen visual arrestin JBrowse link 2 233,307,816 233,347,066 RGD:8699517
G SALL2 spalt like transcription factor 2 JBrowse link 14 21,521,080 21,537,142 RGD:8699517
G SCAPER S-phase cyclin A associated protein in the ER JBrowse link 15 76,347,904 76,905,455 RGD:8699517
G SELENOI selenoprotein I JBrowse link 2 26,346,143 26,395,885 RGD:8699517
G SH3BP2 SH3 domain binding protein 2 JBrowse link 4 2,793,085 2,841,096 RGD:8699517
G SLC1A3 solute carrier family 1 member 3 JBrowse link 5 36,606,355 36,688,334 RGD:8699517
G SLC24A1 solute carrier family 24 member 1 JBrowse link 15 65,611,313 65,661,002 RGD:8699517
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 48,120,990 48,142,672 RGD:8699517
G SLC38A8 solute carrier family 38 member 8 JBrowse link 16 84,009,667 84,043,372 RGD:8699517
G SLC39A14 solute carrier family 39 member 14 JBrowse link 8 22,367,278 22,434,129 RGD:8699517
G SLC4A11 solute carrier family 4 member 11 JBrowse link 20 3,227,417 3,241,484 RGD:8699517
G TACSTD2 tumor associated calcium signal transducer 2 JBrowse link 1 58,575,433 58,577,252 RGD:8699517
G TENM3 teneurin transmembrane protein 3 JBrowse link 4 181,447,613 182,803,024 RGD:8699517
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:8699517
G TIMM8A translocase of inner mitochondrial membrane 8A JBrowse link X 101,345,661 101,348,742 RGD:8699517
G TMEM126A transmembrane protein 126A JBrowse link 11 85,647,919 85,656,553 RGD:8699517
G TMEM98 transmembrane protein 98 JBrowse link 17 32,927,910 32,944,315 RGD:8699517
G TRPM1 transient receptor potential cation channel subfamily M member 1 JBrowse link 15 31,001,061 31,161,273 RGD:8699517
G TSPAN12 tetraspanin 12 JBrowse link 7 120,787,320 120,858,337 RGD:8699517
G TTC8 tetratricopeptide repeat domain 8 JBrowse link 14 88,824,153 88,881,079 RGD:8699517
G TUB TUB bipartite transcription factor JBrowse link 11 8,019,180 8,106,243 RGD:8699517
G TUBA3D tubulin alpha 3d JBrowse link 2 131,476,119 131,482,934 RGD:8699517
G TUBB4B tubulin beta 4B class IVb JBrowse link 9 137,241,287 137,243,707 RGD:8699517
G TUBGCP4 tubulin gamma complex associated protein 4 JBrowse link 15 43,371,073 43,409,771 RGD:8699517
G TULP1 TUB like protein 1 JBrowse link 6 35,497,874 35,512,896 RGD:8699517
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8699517
G VPS11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 11 119,067,792 119,081,972 RGD:8699517
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 8 99,013,266 99,877,586 RGD:8699517
G WDR19 WD repeat domain 19 JBrowse link 4 39,182,473 39,285,810 RGD:8699517
G WRN WRN RecQ like helicase JBrowse link 8 31,033,749 31,176,138 RGD:10042984
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,101,769 17,470,960 RGD:8699517
G XYLT2 xylosyltransferase 2 JBrowse link 17 50,346,126 50,361,185 RGD:8699517
G ZEB1 zinc finger E-box binding homeobox 1 JBrowse link 10 31,318,417 31,529,814 RGD:8699517
G ZFYVE26 zinc finger FYVE-type containing 26 JBrowse link 14 67,728,892 67,817,293 RGD:8699517
G ZNF408 zinc finger protein 408 JBrowse link 11 46,701,031 46,705,912 RGD:8699517
Abnormal best corrected visual acuity test term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,817 109,693,745 RGD:7488949
G GSTT1 glutathione S-transferase theta 1 RGD:7794839
G MYOC myocilin JBrowse link 1 171,635,417 171,652,688 RGD:7394787
RGD:7394801
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:8699517
G PON1 paraoxonase 1 JBrowse link 7 95,297,676 95,324,532 RGD:8547551
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,693 31,668,931 RGD:8655573
G TUBB3 tubulin beta 3 class III JBrowse link 16 89,921,925 89,936,097 RGD:8699517
Amblyopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACVRL1 activin A receptor like type 1 JBrowse link 12 51,906,913 51,923,361 RGD:8699517
G ADAMTSL4 ADAMTS like 4 JBrowse link 1 150,549,378 150,560,937 RGD:8699517
G ADNP activity dependent neuroprotector homeobox JBrowse link 20 50,888,918 50,931,437 RGD:8699517
G AFF4 AF4/FMR2 family member 4 JBrowse link 5 132,875,381 132,963,655 RGD:8699517
G AP4B1 adaptor related protein complex 4 subunit beta 1 JBrowse link 1 113,894,194 113,905,067 RGD:8699517
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 15 50,908,569 51,005,900 RGD:8699517
G AP4M1 adaptor related protein complex 4 subunit mu 1 JBrowse link 7 100,101,413 100,109,039 RGD:8699517
G AP4S1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 14 31,025,106 31,096,450 RGD:8699517
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 1 155,946,839 155,991,262 RGD:8699517
G B3GAT3 beta-1,3-glucuronyltransferase 3 JBrowse link 11 62,615,296 62,621,986 RGD:8699517
G C1QBP complement C1q binding protein JBrowse link 17 5,432,777 5,439,155 RGD:8699517
G CBS cystathionine beta-synthase JBrowse link 21 43,053,190 43,076,861 RGD:8699517
G CHN1 chimerin 1 JBrowse link 2 174,798,809 175,005,381 RGD:8699517
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 71,964,395 72,013,562 RGD:8699517
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 102,876,467 103,108,580 RGD:8699517
G COL4A1 collagen type IV alpha 1 chain JBrowse link 13 110,148,963 110,307,157 RGD:8699517
G COL9A1 collagen type IX alpha 1 chain JBrowse link 6 70,215,061 70,303,084 RGD:8699517
G COL9A2 collagen type IX alpha 2 chain JBrowse link 1 40,300,487 40,317,653 RGD:8699517
G COL9A3 collagen type IX alpha 3 chain JBrowse link 20 62,817,050 62,841,159 RGD:8699517
G COX7B cytochrome c oxidase subunit 7B JBrowse link X 77,899,468 77,907,376 RGD:8699517
G CRYAA crystallin alpha A JBrowse link 21 43,169,008 43,172,810 RGD:8699517
G CRYBB1 crystallin beta B1 JBrowse link 22 26,599,278 26,618,104 RGD:8699517
G CRYGC crystallin gamma C JBrowse link 2 208,128,137 208,139,100 RGD:8699517
G DPP6 dipeptidyl peptidase like 6 JBrowse link 7 153,748,133 154,894,285 RGD:8699517
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:8699517
G ENG endoglin JBrowse link 9 127,815,012 127,854,773 RGD:8699517
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 JBrowse link 1 219,968,600 220,046,505 RGD:8699517
G ERF ETS2 repressor factor JBrowse link 19 42,247,561 42,255,128 RGD:8699517
G FBN1 fibrillin 1 JBrowse link 15 48,408,313 48,645,709 RGD:8699517
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8699517
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,293 1,808,872 RGD:8699517
G GDF2 growth differentiation factor 2 JBrowse link 10 47,322,454 47,327,588 RGD:8699517
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,346 9,786,260 RGD:8699517
G H1-4 H1.4 linker histone, cluster member JBrowse link 6 26,156,329 26,157,115 RGD:8699517
G HCCS holocytochrome c synthase JBrowse link X 11,111,332 11,123,086 RGD:8699517
G KIF11 kinesin family member 11 JBrowse link 10 92,593,130 92,655,395 RGD:8699517
G LAMA1 laminin subunit alpha 1 JBrowse link 18 6,941,742 7,117,797 RGD:8699517
G LIM2 lens intrinsic membrane protein 2 JBrowse link 19 51,379,909 51,387,974 RGD:8699517
G LOXL3 lysyl oxidase like 3 JBrowse link 2 74,532,258 74,555,719 RGD:8699517
G LYST lysosomal trafficking regulator JBrowse link 1 235,661,031 235,883,713 RGD:8699517
G MAFB MAF bZIP transcription factor B JBrowse link 20 40,685,848 40,689,236 RGD:8699517
G MED25 mediator complex subunit 25 JBrowse link 19 49,818,289 49,840,384 RGD:8699517
G MLXIPL MLX interacting protein like JBrowse link 7 73,593,201 73,624,522 RGD:8699517
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 47,142,216 47,145,210 RGD:8699517
G NFIX nuclear factor I X JBrowse link 19 12,995,475 13,098,796 RGD:8699517
G NPHP4 nephrocystin 4 JBrowse link 1 5,862,810 5,992,425 RGD:8699517
G NR2F1 nuclear receptor subfamily 2 group F member 1 JBrowse link 5 93,583,222 93,594,613 RGD:8699517
G OCRL OCRL inositol polyphosphate-5-phosphatase JBrowse link X 129,540,259 129,592,556 RGD:8699517
G OGT O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link X 71,533,104 71,575,892 RGD:8699517
G P4HTM prolyl 4-hydroxylase, transmembrane JBrowse link 3 48,989,908 49,007,153 RGD:8699517
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:8699517
G PHOX2A paired like homeobox 2A JBrowse link 11 72,239,077 72,244,176 RGD:8699517
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8699517
G PITX2 paired like homeodomain 2 JBrowse link 4 110,617,423 110,642,123 RGD:8699517
G PUF60 poly(U) binding splicing factor 60 JBrowse link 8 143,816,344 143,829,315 RGD:8699517
G SALL4 spalt like transcription factor 4 JBrowse link 20 51,782,331 51,802,521 RGD:8699517
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 12 51,591,233 51,812,864 RGD:8699517
G SMAD4 SMAD family member 4 JBrowse link 18 51,030,213 51,085,042 RGD:8699517
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 18 2,655,726 2,805,017 RGD:8699517
G SOBP sine oculis binding protein homolog JBrowse link 6 107,490,104 107,661,306 RGD:8699517
G TANGO2 transport and golgi organization 2 homolog JBrowse link 22 20,017,000 20,067,164 RGD:8699517
G TBX1 T-box transcription factor 1 JBrowse link 22 19,756,703 19,783,593 RGD:8699517
G TRIO trio Rho guanine nucleotide exchange factor JBrowse link 5 14,143,342 14,510,204 RGD:8699517
G TUBB3 tubulin beta 3 class III JBrowse link 16 89,921,925 89,936,097 RGD:8699517
G TWIST1 twist family bHLH transcription factor 1 JBrowse link 7 19,113,047 19,117,636 RGD:8699517
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial JBrowse link 1 119,031,216 119,140,788 RGD:8699517
G WDR26 WD repeat domain 26 JBrowse link 1 224,385,143 224,434,797 RGD:8699517
G XYLT2 xylosyltransferase 2 JBrowse link 17 50,346,126 50,361,185 RGD:8699517
G YME1L1 YME1 like 1 ATPase JBrowse link 10 27,110,111 27,155,051 RGD:8699517
Best corrected visual acuity 1.3 LogMAR term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RD3 retinal degeneration 3, GUCY2D regulator JBrowse link 1 211,476,522 211,492,917 RGD:11560485
Blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 1 93,992,834 94,121,148 RGD:8699517
G ABCD1 ATP binding cassette subfamily D member 1 JBrowse link X 153,724,851 153,744,755 RGD:8699517
G ACTB actin beta JBrowse link 7 5,527,148 5,530,601 RGD:8699517
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 JBrowse link 19 8,580,240 8,610,715 RGD:8699517
G AGBL5 ATP/GTP binding protein like 5 JBrowse link 2 27,051,423 27,070,622 RGD:8699517
G AHI1 Abelson helper integration site 1 JBrowse link 6 135,283,532 135,497,771 RGD:8699517
G AHR aryl hydrocarbon receptor JBrowse link 7 17,298,652 17,346,147 RGD:8699517
G AIP aryl hydrocarbon receptor interacting protein JBrowse link 11 67,468,179 67,491,108 RGD:8699517
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 JBrowse link 17 6,423,738 6,435,121 RGD:8699517
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 2 73,385,758 73,609,919 RGD:8699517
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 JBrowse link 19 7,348,901 7,476,990 RGD:8699517
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein JBrowse link 16 57,245,259 57,253,635 RGD:8699517
G ARL3 ADP ribosylation factor like GTPase 3 JBrowse link 10 102,673,731 102,714,397 RGD:8699517
G ARL6 ADP ribosylation factor like GTPase 6 JBrowse link 3 97,762,581 97,812,585 RGD:8699517
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 JBrowse link 15 80,404,382 80,597,933 RGD:8699517
G ASPA aspartoacylase JBrowse link 17 3,473,646 3,503,405 RGD:8699517
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 19 41,966,582 41,994,230 RGD:8699517
G ATRX ATRX chromatin remodeler JBrowse link X 77,504,878 77,786,235 RGD:8699517
G ATXN7 ataxin 7 JBrowse link 3 63,863,144 64,003,462 RGD:8699517
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 1 235,440,654 235,504,481 RGD:8699517
G B4GAT1 beta-1,4-glucuronyltransferase 1 JBrowse link 11 66,345,374 66,347,629 RGD:8699517
G BBS2 Bardet-Biedl syndrome 2 JBrowse link 16 56,470,403 56,520,095 RGD:8699517
G BCOR BCL6 corepressor JBrowse link X 40,051,246 40,177,390 RGD:8699517
G BEST1 bestrophin 1 JBrowse link 11 61,946,722 61,965,515 RGD:8699517
G BMP4 bone morphogenetic protein 4 JBrowse link 14 53,949,736 53,956,891 RGD:8699517
G BTNL2 butyrophilin like 2 JBrowse link 6 32,393,339 32,408,879 RGD:8699517
G C1QTNF5 C1q and TNF related 5 JBrowse link 11 119,338,942 119,346,705 RGD:8699517
G C4A complement C4A (Rodgers blood group) JBrowse link 6 31,982,057 32,002,681 RGD:8699517
G C8orf37 chromosome 8 open reading frame 37 JBrowse link 8 95,244,913 95,269,201 RGD:8699517
G CA4 carbonic anhydrase 4 JBrowse link 17 60,149,942 60,179,021 RGD:8699517
G CAPN5 calpain 5 JBrowse link 11 77,066,971 77,126,155 RGD:8699517
G CC2D2A coiled-coil and C2 domain containing 2A JBrowse link 4 15,468,660 15,601,557 RGD:8699517
G CCR1 C-C motif chemokine receptor 1 JBrowse link 3 46,201,711 46,208,313 RGD:8699517
G CD109 CD109 molecule JBrowse link 6 73,696,085 73,828,317 RGD:8699517
G CDH23 cadherin related 23 JBrowse link 10 71,396,920 71,815,947 RGD:8699517
G CDH3 cadherin 3 JBrowse link 16 68,644,914 68,727,573 RGD:8699517
G CDHR1 cadherin related family member 1 JBrowse link 10 84,194,537 84,219,621 RGD:8699517
G CEP164 centrosomal protein 164 JBrowse link 11 117,316,346 117,413,266 RGD:8699517
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8699517
G CERKL ceramide kinase like JBrowse link 2 181,536,672 181,657,107 RGD:8699517
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,444,933 1,475,084 RGD:8699517
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 16 28,466,653 28,492,082 RGD:8699517
G CLRN1 clarin 1 JBrowse link 3 150,926,163 150,972,999 RGD:8699517
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 4 47,935,015 48,016,718 RGD:8699517
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 2 98,346,181 98,399,154 RGD:8699517
G CNGB1 cyclic nucleotide gated channel subunit beta 1 JBrowse link 16 57,882,340 57,971,128 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G COX7B cytochrome c oxidase subunit 7B JBrowse link X 77,899,468 77,907,376 RGD:8699517
G CRB1 crumbs cell polarity complex component 1 JBrowse link 1 197,201,504 197,478,455 RGD:8699517
G CRX cone-rod homeobox JBrowse link 19 47,821,937 47,843,324 RGD:8699517
G CTC1 CST telomere replication complex component 1 JBrowse link 17 8,224,815 8,248,079 RGD:8699517
G CTNS cystinosin, lysosomal cystine transporter JBrowse link 17 3,636,468 3,663,103 RGD:8699517
G DHDDS dehydrodolichyl diphosphate synthase subunit JBrowse link 1 26,432,282 26,471,306 RGD:8699517
G DHX38 DEAH-box helicase 38 JBrowse link 16 72,093,665 72,112,912 RGD:8699517
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha JBrowse link 12 123,620,406 123,633,686 RGD:8699517
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 14 75,002,921 75,012,366 RGD:8699517
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 1 44,850,522 44,986,722 RGD:8699517
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta JBrowse link 2 27,364,352 27,370,457 RGD:8699517
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 3 184,135,023 184,145,311 RGD:8699517
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 5 96,760,273 96,935,983 RGD:8699517
G EYS eyes shut homolog JBrowse link 6 63,719,980 65,707,226 RGD:8699517
G FAM161A FAM161 centrosomal protein A JBrowse link 2 61,800,240 61,854,126 RGD:8699517
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,059 RGD:8699517
G FBN1 fibrillin 1 JBrowse link 15 48,408,313 48,645,709 RGD:8699517
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:8699517
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 RGD:8699517
G FLVCR1 FLVCR heme transporter 1 JBrowse link 1 212,858,275 212,899,363 RGD:8699517
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 11 126,269,043 126,278,132 RGD:8699517
G FRAS1 Fraser extracellular matrix complex subunit 1 JBrowse link 4 78,057,323 78,544,269 RGD:8699517
G FREM2 FRAS1 related extracellular matrix 2 JBrowse link 13 38,687,041 38,887,131 RGD:8699517
G FSCN2 fascin actin-bundling protein 2, retinal JBrowse link 17 81,513,019 81,537,130 RGD:8699517
G FZD4 frizzled class receptor 4 JBrowse link 11 86,945,679 86,955,395 RGD:8699517
G GALC galactosylceramidase JBrowse link 14 87,933,014 87,993,665 RGD:8699517
G GJB2 gap junction protein beta 2 JBrowse link 13 20,187,470 20,192,938 RGD:8699517
G GM2A GM2 ganglioside activator JBrowse link 5 151,253,185 151,270,440 RGD:8699517
G GMPPB GDP-mannose pyrophosphorylase B JBrowse link 3 49,719,916 49,723,974 RGD:8699517
G GNAQ G protein subunit alpha q JBrowse link 9 77,716,097 78,031,811 RGD:8699517
G GNAS GNAS complex locus JBrowse link 20 58,839,681 58,911,196 RGD:8699517
G GNAT1 G protein subunit alpha transducin 1 JBrowse link 3 50,191,610 50,197,696 RGD:8699517
G GP1BA glycoprotein Ib platelet subunit alpha JBrowse link 17 4,932,277 4,935,023 RGD:8699517
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 22 19,723,539 19,724,771 RGD:8699517
G GRIP1 glutamate receptor interacting protein 1 JBrowse link 12 66,347,431 67,069,265 RGD:8699517
G GUCA1B guanylate cyclase activator 1B JBrowse link 6 42,183,284 42,194,956 RGD:8699517
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,002,615 8,020,342 RGD:8699517
G HCCS holocytochrome c synthase JBrowse link X 11,111,332 11,123,086 RGD:8699517
G HEXA hexosaminidase subunit alpha JBrowse link 15 72,340,924 72,376,014 RGD:8699517
G HEXB hexosaminidase subunit beta JBrowse link 5 74,640,023 74,721,288 RGD:8699517
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 8 43,140,449 43,202,855 RGD:8699517
G HLA-B major histocompatibility complex, class I, B JBrowse link 6 31,353,875 31,357,179 RGD:8699517
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 JBrowse link 6 32,578,769 32,589,836 RGD:8699517
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:8699517
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha JBrowse link 15 78,149,362 78,171,945 RGD:8699517
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta JBrowse link 20 2,658,394 2,664,223 RGD:8699517
G IFT140 intraflagellar transport 140 JBrowse link 16 1,510,427 1,612,072 RGD:8699517
G IFT172 intraflagellar transport 172 JBrowse link 2 27,444,373 27,489,819 RGD:8699517
G IFT88 intraflagellar transport 88 JBrowse link 13 20,566,446 20,691,444 RGD:8699517
G IL10 interleukin 10 JBrowse link 1 206,767,602 206,772,494 RGD:8699517
G IL12A interleukin 12A JBrowse link 3 159,988,835 159,996,019 RGD:8699517
G IL12A-AS1 IL12A antisense RNA 1 JBrowse link 3 159,913,400 160,207,092 RGD:8699517
G IL23R interleukin 23 receptor JBrowse link 1 67,138,639 67,259,979 RGD:8699517
G IMPDH1 inosine monophosphate dehydrogenase 1 JBrowse link 7 128,392,277 128,409,989 RGD:8699517
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 3 101,222,546 101,320,575 RGD:8699517
G ITGA2 integrin subunit alpha 2 JBrowse link 5 52,989,352 53,094,779 RGD:8699517
G ITGA2B integrin subunit alpha 2b JBrowse link 17 44,372,181 44,389,649 RGD:8699517
G ITGB3 integrin subunit beta 3 JBrowse link 17 47,253,827 47,313,743 RGD:8699517
G KIAA1549 KIAA1549 JBrowse link 7 138,831,377 138,981,626 RGD:8699517
G KIF11 kinesin family member 11 JBrowse link 10 92,593,130 92,655,395 RGD:8699517
G KIF14 kinesin family member 14 JBrowse link 1 200,551,497 200,620,791 RGD:8699517
G KIZ kizuna centrosomal protein JBrowse link 20 21,125,975 21,246,622 RGD:8699517
G KLHL7 kelch like family member 7 JBrowse link 7 23,105,734 23,177,914 RGD:8699517
G KLRC4 killer cell lectin like receptor C4 JBrowse link 12 10,407,384 10,409,757 RGD:8699517
G LAMB2 laminin subunit beta 2 JBrowse link 3 49,121,114 49,133,066 RGD:8699517
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,824 RGD:8699517
G LRAT lecithin retinol acyltransferase JBrowse link 4 154,740,841 154,753,120 RGD:8699517
G LRP5 LDL receptor related protein 5 JBrowse link 11 68,298,866 68,449,275 RGD:8699517
G MAK male germ cell associated kinase JBrowse link 6 10,762,723 10,838,954 RGD:8699517
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,242,027 3,256,776 RGD:8699517
G MEN1 menin 1 JBrowse link 11 64,803,514 64,811,294 RGD:8699517
G MERTK MER proto-oncogene, tyrosine kinase JBrowse link 2 111,898,607 112,029,561 RGD:8699517
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 4 127,917,732 127,965,988 RGD:8699517
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 8,527 9,207 RGD:8699517
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:5508187
RGD:8699517
RGD:5490236
RGD:5508712
RGD:5508685
RGD:5508689
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 JBrowse link MT 4,470 5,511 RGD:8699517
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 10,059 10,404 RGD:8699517
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 1 236,794,304 236,903,981 RGD:8699517
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 5 7,851,186 7,901,124 RGD:8699517
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 153,929,225 153,935,037 RGD:8699517
G NDE1 nudE neurodevelopment protein 1 JBrowse link 16 15,643,267 15,726,353 RGD:8699517
G NDP norrin cystine knot growth factor NDP JBrowse link X 43,948,776 43,973,390 RGD:8699517
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 119,871,832 119,876,662 RGD:8699517
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 19 5,891,276 5,903,790 RGD:8699517
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 JBrowse link 22 42,085,526 42,090,772 RGD:8699517
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 JBrowse link 15 41,387,353 41,402,501 RGD:8699517
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 60,945,205 61,153,026 RGD:8699517
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 3 49,020,475 49,023,495 RGD:8699517
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 JBrowse link 6 96,889,315 96,897,891 RGD:8699517
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 20 13,785,026 13,821,580 RGD:8699517
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 JBrowse link 16 1,959,538 1,961,975 RGD:8699517
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 47,142,216 47,145,210 RGD:8699517
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 2 201,071,784 201,085,750 RGD:8699517
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 8 124,539,102 124,549,986 RGD:8699517
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2 206,114,817 206,159,444 RGD:8699517
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 161,197,417 161,214,395 RGD:8699517
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 11 47,579,074 47,584,562 RGD:8699517
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 5 53,560,610 53,683,338 RGD:8699517
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 JBrowse link 5 1,801,407 1,816,048 RGD:8699517
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 19 1,383,904 1,395,584 RGD:8699517
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 11 68,030,681 68,036,644 RGD:8699517
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 11 67,606,936 67,612,554 RGD:8699517
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 18 9,102,642 9,134,341 RGD:8699517
G NEK2 NIMA related kinase 2 JBrowse link 1 211,658,256 211,675,630 RGD:8699517
G NF2 neurofibromin 2 JBrowse link 22 29,603,556 29,698,600 RGD:8699517
G NLRC4 NLR family CARD domain containing 4 JBrowse link 2 32,224,449 32,265,743 RGD:8699517
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 247,416,163 247,448,823 RGD:8699517
G NR2E3 nuclear receptor subfamily 2 group E member 3 JBrowse link 15 71,810,554 71,818,253 RGD:8699517
G NRL neural retina leucine zipper JBrowse link 14 24,078,662 24,114,949 RGD:8699517
G NUBPL nucleotide binding protein like JBrowse link 14 31,561,399 31,861,293 RGD:8699517
G OAT ornithine aminotransferase JBrowse link 10 124,397,303 124,418,976 RGD:8699517
G OFD1 OFD1 centriole and centriolar satellite protein JBrowse link X 13,734,713 13,773,978 RGD:8699517
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 45,527,427 45,584,802 RGD:8699517
G PANK2 pantothenate kinase 2 JBrowse link 20 3,888,781 3,933,087 RGD:8699517
G PCARE photoreceptor cilium actin regulator JBrowse link 2 29,061,695 29,074,523 RGD:8699517
G PDE6A phosphodiesterase 6A JBrowse link 5 149,857,953 149,944,793 RGD:8699517
G PDE6B phosphodiesterase 6B JBrowse link 4 587,325 670,892 RGD:8699517
G PDE6G phosphodiesterase 6G JBrowse link 17 81,650,459 81,663,127 RGD:8699517
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,244,982 RGD:8699517
G PEX6 peroxisomal biogenesis factor 6 JBrowse link 6 42,963,865 42,980,224 RGD:8699517
G PGK1 phosphoglycerate kinase 1 JBrowse link X 78,104,248 78,129,295 RGD:8699517
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 19 18,153,163 18,170,532 RGD:8699517
G PITX3 paired like homeodomain 3 JBrowse link 10 102,230,189 102,241,512 RGD:8699517
G PLA2G6 phospholipase A2 group VI JBrowse link 22 38,111,495 38,181,830 RGD:6482736
G PLG plasminogen JBrowse link 6 160,702,193 160,754,097 RGD:8699517
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,717 11,975,537 RGD:8699517
G POGZ pogo transposable element derived with ZNF domain JBrowse link 1 151,402,724 151,459,494 RGD:8699517
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 RGD:8699517
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 1 46,188,681 46,220,305 RGD:8699517
G POMK protein O-mannose kinase JBrowse link 8 43,093,506 43,123,434 RGD:8699517
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8699517
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:8699517
G PPT1 palmitoyl-protein thioesterase 1 JBrowse link 1 40,071,461 40,097,252 RGD:8699517
G PQBP1 polyglutamine binding protein 1 JBrowse link X 48,897,862 48,903,145 RGD:8699517
G PRCD photoreceptor disc component JBrowse link 17 76,527,586 76,555,339 RGD:8699517
G PROM1 prominin 1 JBrowse link 4 15,968,226 16,084,059 RGD:8699517
G PROS1 protein S JBrowse link 3 93,873,037 93,974,081 RGD:8699517
G PRPF3 pre-mRNA processing factor 3 JBrowse link 1 150,321,468 150,353,233 RGD:8699517
G PRPF31 pre-mRNA processing factor 31 JBrowse link 19 54,115,706 54,131,719 RGD:8699517
G PRPF4 pre-mRNA processing factor 4 JBrowse link 9 113,275,634 113,292,905 RGD:8699517
G PRPF6 pre-mRNA processing factor 6 JBrowse link 20 63,981,132 64,033,100 RGD:8699517
G PRPF8 pre-mRNA processing factor 8 JBrowse link 17 1,650,629 1,684,880 RGD:8699517
G PRPH2 peripherin 2 JBrowse link 6 42,694,509 42,723,039 RGD:8699517
G RBP3 retinol binding protein 3 JBrowse link 10 47,348,363 47,357,881 RGD:8699517
G RDH12 retinol dehydrogenase 12 JBrowse link 14 67,701,886 67,734,451 RGD:8699517
G REEP6 receptor accessory protein 6 JBrowse link 19 1,491,181 1,497,927 RGD:8699517
G RGR retinal G protein coupled receptor JBrowse link 10 84,243,741 84,259,960 RGD:8699517
G RHO rhodopsin JBrowse link 3 129,528,639 129,535,344 RGD:8699517
G RLBP1 retinaldehyde binding protein 1 JBrowse link 15 89,209,869 89,223,179 RGD:8699517
G ROM1 retinal outer segment membrane protein 1 JBrowse link 11 62,613,257 62,615,116 RGD:8699517
G RP1 RP1 axonemal microtubule associated JBrowse link 8 54,509,448 54,871,720 RGD:8699517
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 46,837,043 46,882,358 RGD:8699517
G RP9 RP9 pre-mRNA splicing factor JBrowse link 7 33,094,797 33,109,404 RGD:8699517
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 1 68,428,822 68,450,322 RGD:8699517
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 38,269,163 38,327,509 RGD:8699517
G SAG S-antigen visual arrestin JBrowse link 2 233,307,816 233,347,066 RGD:8699517
G SCAPER S-phase cyclin A associated protein in the ER JBrowse link 15 76,347,904 76,905,455 RGD:8699517
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 2 165,984,641 166,149,161 RGD:8699517
G SDHA succinate dehydrogenase complex flavoprotein subunit A JBrowse link 5 218,223 264,816 RGD:8699517
G SDHAF1 succinate dehydrogenase complex assembly factor 1 JBrowse link 19 35,995,188 35,996,312 RGD:8699517
G SDHB succinate dehydrogenase complex iron sulfur subunit B JBrowse link 1 17,018,722 17,054,032 RGD:8699517
G SDHD succinate dehydrogenase complex subunit D JBrowse link 11 112,086,873 112,095,794 RGD:8699517
G SEMA4A semaphorin 4A JBrowse link 1 156,149,672 156,177,751 RGD:8699517
G SLC24A1 solute carrier family 24 member 1 JBrowse link 15 65,611,313 65,661,002 RGD:8699517
G SLC52A2 solute carrier family 52 member 2 JBrowse link 8 144,358,547 144,361,272 RGD:8699517
G SLC7A14 solute carrier family 7 member 14 JBrowse link 3 170,459,548 170,586,075 RGD:8699517
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 22 23,786,966 23,838,009 RGD:8699517
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 18 2,655,726 2,805,017 RGD:8699517
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 2 96,274,338 96,305,546 RGD:8699517
G SPATA7 spermatogenesis associated 7 JBrowse link 14 88,385,638 88,470,350 RGD:8699517
G STAT4 signal transducer and activator of transcription 4 JBrowse link 2 191,029,576 191,172,684 RGD:8699517
G SUFU SUFU negative regulator of hedgehog signaling JBrowse link 10 102,502,801 102,633,535 RGD:8699517
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,475,104 2,509,669 RGD:8699517
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 JBrowse link 11 68,039,000 68,053,846 RGD:8699517
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 3 119,498,525 119,525,090 RGD:8699517
G TIMP3 TIMP metallopeptidase inhibitor 3 JBrowse link 22 32,801,705 32,863,041 RGD:8699517
G TLR4 toll like receptor 4 JBrowse link 9 117,704,403 117,724,735 RGD:8699517
G TMEM126B transmembrane protein 126B JBrowse link 11 85,628,573 85,636,540 RGD:8699517
G TMEM138 transmembrane protein 138 JBrowse link 11 61,362,361 61,378,224 RGD:8699517
G TMEM216 transmembrane protein 216 JBrowse link 11 61,391,982 61,398,863 RGD:8699517
G TMEM231 transmembrane protein 231 JBrowse link 16 75,536,741 75,556,286 RGD:8699517
G TMEM237 transmembrane protein 237 JBrowse link 2 201,620,186 201,643,503 RGD:8699517
G TMEM67 transmembrane protein 67 JBrowse link 8 93,754,844 93,832,653 RGD:8699517
G TNFSF11 TNF superfamily member 11 JBrowse link 13 42,562,736 42,608,013 RGD:8699517
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase JBrowse link 9 32,540,544 32,552,628 RGD:8699517
G TTC8 tetratricopeptide repeat domain 8 JBrowse link 14 88,824,153 88,881,079 RGD:8699517
G TUB TUB bipartite transcription factor JBrowse link 11 8,019,180 8,106,243 RGD:8699517
G TULP1 TUB like protein 1 JBrowse link 6 35,497,874 35,512,896 RGD:8699517
G UBAC2 UBA domain containing 2 JBrowse link 13 99,200,425 99,386,504 RGD:8699517
G UFM1 ubiquitin fold modifier 1 JBrowse link 13 38,349,851 38,363,619 RGD:8699517
G USH2A usherin JBrowse link 1 215,622,891 216,423,448 RGD:8699517
G WHRN whirlin JBrowse link 9 114,402,078 114,505,500 RGD:8699517
G ZNF408 zinc finger protein 408 JBrowse link 11 46,701,031 46,705,912 RGD:8699517
G ZNF423 zinc finger protein 423 JBrowse link 16 49,487,524 49,857,919 RGD:8699517
G ZNF513 zinc finger protein 513 JBrowse link 2 27,377,231 27,380,866 RGD:8699517
Congenital blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 2 215,311,974 215,359,745 RGD:8699517
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8699517
G LRAT lecithin retinol acyltransferase JBrowse link 4 154,740,841 154,753,120 RGD:8699517
G LRP5 LDL receptor related protein 5 JBrowse link 11 68,298,866 68,449,275 RGD:8699517
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 8 125,091,779 125,367,125 RGD:8699517
G RD3 retinal degeneration 3, GUCY2D regulator JBrowse link 1 211,476,522 211,492,917 RGD:8699517
G SARDH sarcosine dehydrogenase JBrowse link 9 133,663,074 133,739,958 RGD:8699517
G XRCC4 X-ray repair cross complementing 4 JBrowse link 5 83,077,409 83,370,333 RGD:8699517
Mildly reduced visual acuity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD7 FERM domain containing 7 JBrowse link X 132,074,926 132,128,022 RGD:8699517
Moderately reduced visual acuity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8699517
G IMPG1 interphotoreceptor matrix proteoglycan 1 JBrowse link 6 75,921,114 76,072,678 RGD:8699517
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 3 101,222,546 101,320,575 RGD:8699517
G LRP5 LDL receptor related protein 5 JBrowse link 11 68,298,866 68,449,275 RGD:8699517
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8699517
G RAC1 Rac family small GTPase 1 JBrowse link 7 6,374,527 6,403,967 RGD:8699517
Severely reduced visual acuity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 JBrowse link 17 6,423,738 6,435,121 RGD:8699517
G ALG3 ALG3 alpha-1,3- mannosyltransferase JBrowse link 3 184,242,301 184,258,301 RGD:8699517
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 49,205,063 49,233,404 RGD:8699517
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8699517
G CHST6 carbohydrate sulfotransferase 6 JBrowse link 16 75,472,042 75,495,441 RGD:8699517
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 8 86,573,608 86,743,675 RGD:8699517
G CRB1 crumbs cell polarity complex component 1 JBrowse link 1 197,201,504 197,478,455 RGD:8699517
G CRX cone-rod homeobox JBrowse link 19 47,821,937 47,843,324 RGD:8699517
G GDF6 growth differentiation factor 6 JBrowse link 8 96,142,333 96,160,806 RGD:8699517
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,002,615 8,020,342 RGD:8699517
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:8699517
G IFT140 intraflagellar transport 140 JBrowse link 16 1,510,427 1,612,072 RGD:8699517
G IMPDH1 inosine monophosphate dehydrogenase 1 JBrowse link 7 128,392,277 128,409,989 RGD:8699517
G IQCB1 IQ motif containing B1 JBrowse link 3 121,769,761 121,835,079 RGD:8699517
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 JBrowse link 2 232,765,802 232,776,565 RGD:8699517
G LCA5 lebercilin LCA5 JBrowse link 6 79,484,991 79,537,430 RGD:8699517
G LRAT lecithin retinol acyltransferase JBrowse link 4 154,740,841 154,753,120 RGD:8699517
G LRP5 LDL receptor related protein 5 JBrowse link 11 68,298,866 68,449,275 RGD:8699517
G NHS NHS actin remodeling regulator JBrowse link X 17,375,200 17,735,994 RGD:8699517
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 1 9,942,923 9,996,884 RGD:8699517
G NPHP4 nephrocystin 4 JBrowse link 1 5,862,810 5,992,425 RGD:8699517
G PCYT1A phosphate cytidylyltransferase 1, choline, alpha JBrowse link 3 196,234,368 196,287,726 RGD:8699517
G RD3 retinal degeneration 3, GUCY2D regulator JBrowse link 1 211,476,522 211,492,917 RGD:8699517
G RDH12 retinol dehydrogenase 12 JBrowse link 14 67,701,886 67,734,451 RGD:8699517
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 1 68,428,822 68,450,322 RGD:8699517
G RPGRIP1 RPGR interacting protein 1 JBrowse link 14 21,287,977 21,351,316 RGD:8699517
G SPATA7 spermatogenesis associated 7 JBrowse link 14 88,385,638 88,470,350 RGD:8699517
G TULP1 TUB like protein 1 JBrowse link 6 35,497,874 35,512,896 RGD:8699517
G USP45 ubiquitin specific peptidase 45 JBrowse link 6 99,432,306 99,515,770 RGD:8699517
G ZNF513 zinc finger protein 513 JBrowse link 2 27,377,231 27,380,866 RGD:8699517
Sudden loss of visual acuity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme JBrowse link 17 63,477,061 63,498,373 RGD:8548899
G AIP aryl hydrocarbon receptor interacting protein JBrowse link 11 67,468,179 67,491,108 RGD:8699517
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,713,328 140,924,929 RGD:8699517
G CDH23 cadherin related 23 JBrowse link 10 71,396,920 71,815,947 RGD:8699517
G CTNNB1 catenin beta 1 JBrowse link 3 41,199,422 41,240,445 RGD:8699517
G MEN1 menin 1 JBrowse link 11 64,803,514 64,811,294 RGD:8699517
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:5490236
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L JBrowse link MT 10,470 10,766 RGD:5686341
Ultra-low vision with retained motion projection term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF6 growth differentiation factor 6 JBrowse link 8 96,142,333 96,160,806 RGD:8699517
Visual acuity light perception with projection term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 68,298,866 68,449,275 RGD:8699517
Visual acuity no light perception term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APC APC regulator of WNT signaling pathway JBrowse link 5 112,707,498 112,846,239 RGD:8699517
Visual acuity test abnormality term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSTT1 glutathione S-transferase theta 1 RGD:7794821
G HLA-B major histocompatibility complex, class I, B JBrowse link 6 31,353,875 31,357,179 RGD:7364788
G NF2 neurofibromin 2 JBrowse link 22 29,603,556 29,698,600 RGD:8699517
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 16 50,693,587 50,733,077 RGD:8158051
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,244,982 RGD:8699517
G POU3F4 POU class 3 homeobox 4 JBrowse link X 83,508,290 83,512,127 RGD:8699517
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 22 23,786,966 23,838,009 RGD:8699517
G SUFU SUFU negative regulator of hedgehog signaling JBrowse link 10 102,502,801 102,633,535 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 6042
    Phenotypic abnormality 6038
      Abnormality of the eye 2595
        Abnormal eye physiology 2106
          Abnormality of vision 1113
            Visual impairment 912
              Reduced visual acuity 435
                Amblyopia 69
                Blindness + 247
                Mildly reduced visual acuity 1
                Moderately reduced visual acuity 6
                Severely reduced visual acuity 30
                Sudden loss of visual acuity 8
                Ultra-low vision + 1
                Very low visual acuity 0
                Visual acuity test abnormality + 17
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.