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ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive night blindness
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Accession:HP:0007675 term browser browse the term
Synonyms:xref: UMLS:C4024818


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Progressive night 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 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 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 BBS2 Bardet-Biedl syndrome 2 JBrowse link 16 56,470,403 56,520,095 RGD:8699517
G BEST1 bestrophin 1 JBrowse link 11 61,946,722 61,965,515 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 CDHR1 cadherin related family member 1 JBrowse link 10 84,194,537 84,219,621 RGD:8699517
G CERKL ceramide kinase like JBrowse link 2 181,536,672 181,657,107 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 CNGB1 cyclic nucleotide gated channel subunit beta 1 JBrowse link 16 57,882,340 57,971,128 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 CYP4V2 cytochrome P450 family 4 subfamily V member 2 JBrowse link 4 186,191,567 186,213,463 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 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 FSCN2 fascin actin-bundling protein 2, retinal JBrowse link 17 81,513,019 81,537,130 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 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 8 43,140,449 43,202,855 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 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 KIAA1549 KIAA1549 JBrowse link 7 138,831,377 138,981,626 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 LRAT lecithin retinol acyltransferase JBrowse link 4 154,740,841 154,753,120 RGD:8699517
G MAK male germ cell associated kinase JBrowse link 6 10,762,723 10,838,954 RGD:8699517
G MERTK MER proto-oncogene, tyrosine kinase JBrowse link 2 111,898,607 112,029,561 RGD:8699517
G NEK2 NIMA related kinase 2 JBrowse link 1 211,658,256 211,675,630 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 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 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 81,663,418 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 POU3F4 POU class 3 homeobox 4 JBrowse link X 83,508,290 83,512,127 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 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 RDH5 retinol dehydrogenase 5 JBrowse link 12 55,720,393 55,724,742 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 62,612,741 62,615,120 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 SEMA4A semaphorin 4A JBrowse link 1 156,149,672 156,177,751 RGD:8699517
G SLC7A14 solute carrier family 7 member 14 JBrowse link 3 170,459,548 170,586,075 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 TOPORS TOP1 binding arginine/serine rich protein 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 USH2A usherin JBrowse link 1 215,622,891 216,423,448 RGD:8699517
G ZNF408 zinc finger protein 408 JBrowse link 11 46,701,031 46,705,912 RGD:8699517
G ZNF513 zinc finger protein 513 JBrowse link 2 27,377,231 27,380,866 RGD:8699517

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Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the eye 2526
        Abnormal eye physiology 2045
          Abnormality of vision 1084
            Nyctalopia 189
              Progressive night blindness 86
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.