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ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive visual loss
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Accession:HP:0000529 term browser browse the term
Definition:A reduction of previously attained ability to see.
Synonyms:exact_synonym: Loss of visual acuity;   Progressive loss of vision;   Progressive vision loss;   Progressive visual acuity loss;   Progressive visual impairment;   Slowly progressive visual loss
 related_synonym: DECREASED VISUAL ACUITY, PROGRESSIVE
 alt_id: HP:0000560;   HP:0007735;   HP:0007753;   HP:0007967
 xref: UMLS:C1839364;   UMLS:C3277697


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Progressive visual loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIP aryl hydrocarbon receptor interacting protein JBrowse link 11 67,468,179 67,491,108 RGD:8699517
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 2 73,385,758 73,609,919 RGD:8699517
G APOE apolipoprotein E JBrowse link 19 44,905,796 44,909,395 RGD:8699517
G ARL3 ADP ribosylation factor like GTPase 3 JBrowse link 10 102,673,731 102,714,397 RGD:8699517
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 19 41,966,582 41,994,230 RGD:8699517
G ATXN7 ataxin 7 JBrowse link 3 63,864,557 64,003,462 RGD:8699517
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,331 140,924,929 RGD:8699517
G C19orf12 chromosome 19 open reading frame 12 JBrowse link 19 29,698,886 29,715,789 RGD:8699517
G C8orf37 chromosome 8 open reading frame 37 JBrowse link 8 95,244,913 95,269,201 RGD:8699517
G CDH23 cadherin related 23 JBrowse link 10 71,396,920 71,815,947 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 CFH complement factor H JBrowse link 1 196,651,878 196,747,504 RGD:8699517
G CFHR1 complement factor H related 1 JBrowse link 1 196,819,730 196,832,189 RGD:8699517
G CFHR3 complement factor H related 3 JBrowse link 1 196,774,800 196,794,073 RGD:8699517
G CFI complement factor I JBrowse link 4 109,731,221 109,802,225 RGD:8699517
G CHM CHM Rab escort protein JBrowse link X 85,861,180 86,047,558 RGD:8699517
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 16 28,466,653 28,492,302 RGD:8699517
G CLN5 CLN5 intracellular trafficking protein JBrowse link 13 76,992,081 77,005,117 RGD:8699517
G CLN6 CLN6 transmembrane ER protein JBrowse link 15 68,206,992 68,229,728 RGD:8699517
G CLN8 CLN8 transmembrane ER and ERGIC protein JBrowse link 8 1,755,778 1,786,570 RGD:8699517
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 21 45,405,165 45,513,720 RGD:8699517
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8699517
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 JBrowse link 4 186,191,567 186,213,463 RGD:8699517
G DCN decorin JBrowse link 12 91,140,484 91,182,817 RGD:8699517
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 JBrowse link 1 219,968,600 220,046,505 RGD:8699517
G GJB2 gap junction protein beta 2 JBrowse link 13 20,187,470 20,192,938 RGD:8699517
G GJB6 gap junction protein beta 6 JBrowse link 13 20,221,962 20,232,395 RGD:8699517
G GUCA1A guanylate cyclase activator 1A JBrowse link 6 42,155,377 42,180,083 RGD:8699517
G HMCN1 hemicentin 1 JBrowse link 1 185,734,391 186,190,949 RGD:8699517
G IFT140 intraflagellar transport 140 JBrowse link 16 1,510,427 1,612,072 RGD:8699517
G INVS inversin JBrowse link 9 100,099,185 100,302,175 RGD:8699517
G IQCB1 IQ motif containing B1 JBrowse link 3 121,769,761 121,835,079 RGD:8699517
G LRP2 LDL receptor related protein 2 JBrowse link 2 169,127,109 169,362,597 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 MMP1 matrix metallopeptidase 1 JBrowse link 11 102,789,919 102,798,160 RGD:8699517
G NEU1 neuraminidase 1 JBrowse link 6 31,857,659 31,862,821 RGD:8699517
G NPHP1 nephrocystin 1 JBrowse link 2 110,122,311 110,205,013 RGD:8699517
G NPHP3 nephrocystin 3 JBrowse link 3 132,680,609 132,722,409 RGD:8699517
G NPHP4 nephrocystin 4 JBrowse link 1 5,862,810 5,992,425 RGD:8699517
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8699517
G PCYT1A phosphate cytidylyltransferase 1, choline, alpha JBrowse link 3 196,234,368 196,287,726 RGD:8699517
G PEX7 peroxisomal biogenesis factor 7 JBrowse link 6 136,821,683 136,913,934 RGD:8699517
G PHYH phytanoyl-CoA 2-hydroxylase JBrowse link 10 13,277,796 13,300,130 RGD:8699517
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 19 7,534,164 7,561,767 RGD:8699517
G PPT1 palmitoyl-protein thioesterase 1 JBrowse link 1 40,071,461 40,097,470 RGD:8699517
G PRPH2 peripherin 2 JBrowse link 6 42,694,509 42,723,039 RGD:8699517
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 107,628,424 107,651,026 RGD:8699517
G RDH5 retinol dehydrogenase 5 JBrowse link 12 55,720,393 55,724,742 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 RS1 retinoschisin 1 JBrowse link X 18,639,688 18,672,108 RGD:8699517
G SDCCAG8 serologically defined colon cancer antigen 8 JBrowse link 1 243,255,418 243,503,683 RGD:8699517
G SEMA4A semaphorin 4A JBrowse link 1 156,149,672 156,177,751 RGD:8699517
G SH3BP2 SH3 domain binding protein 2 JBrowse link 4 2,793,085 2,841,096 RGD:8699517
G SLC25A46 solute carrier family 25 member 46 JBrowse link 5 110,738,145 110,765,157 RGD:8699517
G SON SON DNA binding protein JBrowse link 21 33,543,038 33,577,514 RGD:8699517
G SOST sclerostin JBrowse link 17 43,753,738 43,758,791 RGD:8699517
G TGFBI transforming growth factor beta induced JBrowse link 5 136,028,988 136,063,818 RGD:8699517
G TNFRSF11A TNF receptor superfamily member 11a JBrowse link 18 62,325,287 62,391,288 RGD:8699517
G TPP1 tripeptidyl peptidase 1 JBrowse link 11 6,612,768 6,619,422 RGD:8699517
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2 238,320,489 238,400,900 RGD:8699517
G TREX1 three prime repair exonuclease 1 JBrowse link 3 48,465,830 48,467,645 RGD:8699517
G TRIM44 tripartite motif containing 44 JBrowse link 11 35,662,692 35,818,007 RGD:8699517
G UCHL1 ubiquitin C-terminal hydrolase L1 JBrowse link 4 41,256,928 41,268,455 RGD:8699517
G WDR19 WD repeat domain 19 JBrowse link 4 39,182,473 39,285,810 RGD:8699517
G ZNF408 zinc finger protein 408 JBrowse link 11 46,701,031 46,705,912 RGD:8699517
Slow decrease in visual acuity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,331 140,924,929 RGD:8699517
G CTNNB1 catenin beta 1 JBrowse link 3 41,199,422 41,240,445 RGD:8699517
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8699517
G FA2H fatty acid 2-hydroxylase JBrowse link 16 74,712,955 74,774,831 RGD:8699517
G GUCA1A guanylate cyclase activator 1A JBrowse link 6 42,155,377 42,180,083 RGD:8699517
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,002,615 8,020,342 RGD:8699517
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8699517
G MT-ATP6 mitochondrially encoded ATP synthase 6 JBrowse link MT 8,527 9,207 RGD:8699517
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,904 7,445 RGD:8699517
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 9,207 9,990 RGD:8699517
G MT-CYB mitochondrially encoded cytochrome b JBrowse link MT 14,747 15,887 RGD:8699517
G MT-ND1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 3,307 4,262 RGD:8699517
G MT-ND2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 4,470 5,511 RGD:8699517
G MT-ND4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,760 12,137 RGD:8699517
G MT-ND4L mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 10,470 10,766 RGD:8699517
G MT-ND5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 12,337 14,148 RGD:8699517
G MT-ND6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 14,149 14,673 RGD:8699517
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 161,199,315 161,214,395 RGD:8699517
G NF2 neurofibromin 2 JBrowse link 22 29,603,556 29,698,600 RGD:8699517
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,244,982 RGD:8699517
G PRPH2 peripherin 2 JBrowse link 6 42,694,509 42,723,039 RGD:8699517
G RAX2 retina and anterior neural fold homeobox 2 JBrowse link 19 3,769,089 3,772,228 RGD:8699517
G RP1L1 RP1 like 1 JBrowse link 8 10,606,349 10,655,143 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 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 JBrowse link 2 85,837,120 85,889,034 RGD:8699517
G SUFU SUFU negative regulator of hedgehog signaling JBrowse link 10 102,502,801 102,633,458 RGD:8699517

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Term Annotations click to browse term
  Human phenotype 5901
    Phenotypic abnormality 5897
      Abnormality of the eye 2477
        Abnormal eye physiology 1994
          Abnormality of vision 1060
            Visual impairment 877
              Visual loss 190
                Progressive visual loss 92
                  Slow decrease in visual acuity 26
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.