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ONTOLOGY REPORT - ANNOTATIONS


Term:Vision Disorders
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Accession:DOID:9000343 term browser browse the term
Definition:Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).
Synonyms:exact_synonym: Day Blindness;   Hemeralopia;   Hemeralopias;   Macropsia;   Macropsias;   Metamorphopsia;   Metamorphopsias;   Micropsia;   Micropsias;   Vision Disabilities;   Vision Disability;   Vision Disorder;   Visual Disorder;   Visual Disorders;   visual impairment;   visual impairments
 primary_id: MESH:D014786
 alt_id: RDO:0003157
For additional species annotation, visit the Alliance of Genome Resources.


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Vision Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Atxn7 ataxin 7 JBrowse link 15 12,421,432 12,569,649 RGD:11554173
G Cln6 CLN6, transmembrane ER protein JBrowse link 8 67,733,215 67,748,170 RGD:11554173
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:8554872
G Phf3 PHD finger protein 3 JBrowse link 9 37,073,514 37,144,027 RGD:8554872
G Rbp4 retinol binding protein 4 JBrowse link 1 256,806,476 256,813,678 RGD:1601613
G Rp1 RP1, axonemal microtubule associated JBrowse link 5 15,005,028 15,060,508 RGD:8554872
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:11554173
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:11554173
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:11554173
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:11554173
achromatopsia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:8554872
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:8554872
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
RGD:13592920
Achromatopsia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:9068452
RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:9068446
RGD:8554872
RGD:9068450
achromatopsia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:7240710
RGD:8554872
achromatopsia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:7240710
RGD:8554872
achromatopsia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:7240710
RGD:8554872
Achromatopsia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6c phosphodiesterase 6C JBrowse link 1 256,822,099 256,885,879 RGD:8554872
achromatopsia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:7240710
RGD:8554872
Amaurosis Fugax term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582361
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A JBrowse link 1 101,511,899 101,515,043 RGD:9999160
amblyopia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:10059668
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
Arts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910562
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:1599003
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:8696024
G Arv1 ARV1 homolog, fatty acid homeostasis modulator JBrowse link 19 57,484,720 57,496,539 RGD:8554872
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:11554173
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Efemp1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 14 113,202,382 113,294,993 RGD:8554872
G Lca5 lebercilin LCA5 JBrowse link 8 90,926,309 90,984,271 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:11075234
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:734779
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:8554872
blue color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1sw opsin 1, short wave sensitive JBrowse link 4 56,653,840 56,656,980 RGD:7240710
RGD:8554872
blue cone monochromacy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc1 ER membrane protein complex subunit 1 JBrowse link 5 157,820,908 157,846,226 RGD:8554872
RGD:7240710
Cerebral Visual Impairment and Intellectual Disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp6 acid phosphatase 6, lysophosphatidic JBrowse link 2 199,284,177 199,305,793 RGD:8554872
G Ahdc1 AT hook, DNA binding motif, containing 1 JBrowse link 5 151,209,894 151,277,192 RGD:8554872
G Amot angiomotin JBrowse link X 116,751,231 116,810,238 RGD:8554872
G Arhgef10l Rho guanine nucleotide exchange factor 10 like JBrowse link 5 159,018,373 159,089,383 RGD:8554872
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
G Dcaf6 DDB1 and CUL4 associated factor 6 JBrowse link 13 83,578,730 83,680,330 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Gabrb2 gamma-aminobutyric acid type A receptor beta 2 subunit JBrowse link 10 27,973,694 28,193,072 RGD:8554872
G Kctd19 potassium channel tetramerization domain containing 19 JBrowse link 19 37,338,399 37,370,438 RGD:8554872
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 JBrowse link 9 61,066,170 61,134,963 RGD:8554872
G Rere arginine-glutamic acid dipeptide repeats JBrowse link 5 167,330,966 167,664,506 RGD:8554872
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:8554872
G Slc25a16 solute carrier family 25 member 16 JBrowse link 20 27,283,383 27,308,069 RGD:8554872
G Sox5 SRY-box transcription factor 5 JBrowse link 4 178,062,267 179,031,991 RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:8554872
G Uhmk1 U2AF homology motif kinase 1 JBrowse link 13 88,521,625 88,536,728 RGD:8554872
G Zfp30 ZFP30 zinc finger protein JBrowse link 1 87,558,762 87,569,381 RGD:8554872
color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8655850
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:734792
RGD:11554173
RGD:8554872
G Cngb3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 5 33,097,353 33,507,467 RGD:1600870
RGD:11554173
G Gnat2 G protein subunit alpha transducin 2 JBrowse link 2 210,880,754 210,890,765 RGD:1599034
RGD:11554173
G Pde6h phosphodiesterase 6H JBrowse link 4 170,947,723 170,963,046 RGD:11554173
congenital stationary night blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP binding cassette subfamily A member 4 JBrowse link 2 225,645,539 225,783,288 RGD:8554872
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:734671
RGD:13782370
RGD:8554872
RGD:11554173
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant RGD:13782370
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:8554872
RGD:11554173
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:11554173
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:8554872
RGD:11554173
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:8554872
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:11554173
RGD:8554872
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:8554872
RGD:11554173
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:11554173
RGD:8554872
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:11554173
RGD:8554872
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:11554173
RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:11554173
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
RGD:11554173
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7175555
RGD:8554872
RGD:11554173
RGD:7183085
RGD:7183084
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:7175555
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
congenital stationary night blindness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:7240710
RGD:8554872
congenital stationary night blindness 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grm6 glutamate metabotropic receptor 6 JBrowse link 10 36,345,503 36,363,416 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
congenital stationary night blindness 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7240710
RGD:8554872
congenital stationary night blindness 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:7240710
RGD:8554872
congenital stationary night blindness 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr179 G protein-coupled receptor 179 JBrowse link 10 85,273,839 85,289,886 RGD:7240710
RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
congenital stationary night blindness 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 JBrowse link 2 235,213,017 235,232,894 RGD:7240710
RGD:8554872
congenital stationary night blindness 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
congenital stationary night blindness 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
RGD:7240710
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:7240710
RGD:8554872
congenital stationary night blindness 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6b phosphodiesterase 6B JBrowse link 14 2,328,690 2,371,913 RGD:7240710
RGD:8554872
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:7240710
RGD:8554872
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm8a1 translocase of inner mitochondrial membrane 8A1 JBrowse link X 105,351,714 105,355,722 RGD:13209130
RGD:11554173
RGD:8554872
RGD:7240710
RGD:13209136
RGD:13209134
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
enhanced S-cone syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:7240710
RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
RGD:13592920
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554862
hereditary night blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:11554173
RGD:8554872
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:734491
RGD:8554872
RGD:11554173
Ichthyosis Follicularis Atrichia Photophobia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
night blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chm CHM Rab escort protein JBrowse link X 84,666,900 84,821,775 RGD:8554872
G Gnat1 G protein subunit alpha transducin 1 JBrowse link 8 116,433,302 116,438,038 RGD:1599006
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:1600000
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:11554173
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:1601021
G Rdh5 retinol dehydrogenase 5 JBrowse link 7 3,335,681 3,342,573 RGD:1599416
G Rho rhodopsin JBrowse link 4 147,832,136 147,837,298 RGD:1601620
RGD:8554872
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:1599620
Norrie disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:13592920
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872
Oguchi disease-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sag S-antigen visual arrestin JBrowse link 9 94,926,901 94,972,162 RGD:7240710
RGD:8554872
Oguchi disease-2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grk1 G protein-coupled receptor kinase 1 JBrowse link 16 81,153,489 81,165,442 RGD:8554872
RGD:7240710
Photophobia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 9 43,807,412 43,858,225 RGD:8554872
red-green color blindness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:7240710
RGD:8554872
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8554872
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Diaph1 diaphanous-related formin 1 JBrowse link 18 30,972,907 31,071,371 RGD:7240710
RGD:8554872
Usher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Bbs1 Bardet-Biedl syndrome 1 JBrowse link 1 220,146,084 220,165,545 RGD:8554872
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 13 103,268,045 103,292,848 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547536
RGD:8554872
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8547535
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:8554872
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
G Esrrg estrogen-related receptor gamma JBrowse link 13 106,063,799 106,683,353 RGD:8554872
G Gpatch2 G patch domain containing 2 JBrowse link 13 105,684,300 105,824,405 RGD:8554872
G Guca1a guanylate cyclase activator 1A JBrowse link 9 15,609,804 15,620,030 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Hhipl2 HHIP like 2 JBrowse link 13 101,814,574 101,835,144 RGD:8554872
G Hlx H2.0-like homeobox JBrowse link 13 102,637,967 102,643,376 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Mark1 microtubule affinity regulating kinase 1 JBrowse link 13 102,808,254 102,942,863 RGD:8554872
G Mir194-1 microRNA 194-1 JBrowse link 13 103,250,576 103,250,658 RGD:8554872
G Mtarc1 mitochondrial amidoxime reducing component 1 JBrowse link 13 102,693,679 102,724,120 RGD:8554872
G Mtarc2 mitochondrial amidoxime reducing component 2 JBrowse link 13 102,724,266 102,755,511 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8547536
RGD:8554872
RGD:11554173
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8547536
RGD:8554872
RGD:11554173
G Prom1 prominin 1 JBrowse link 14 71,532,321 71,637,400 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
G RGD1310587 similar to hypothetical protein FLJ14146 JBrowse link 13 102,780,885 102,790,621 RGD:8554872
G Rrp15 ribosomal RNA processing 15 homolog JBrowse link 13 105,155,824 105,178,907 RGD:8554872
G Slc30a10 solute carrier family 30, member 10 JBrowse link 13 103,396,295 103,406,759 RGD:8554872
G Spata17 spermatogenesis associated 17 JBrowse link 13 105,489,121 105,684,293 RGD:8554872
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A JBrowse link 13 101,770,278 101,807,975 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8547536
RGD:8554872
RGD:8695937
RGD:8695939
RGD:8694458
RGD:8694457
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8547536
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547535
RGD:8554872
RGD:8547956
G Zdhhc24 zinc finger, DHHC-type containing 24 JBrowse link 1 220,137,280 220,143,387 RGD:8554872
Usher syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:8554872
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:8554872
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8694152
RGD:8554872
RGD:13592920
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:8554872
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8695918
RGD:8554872
RGD:13592920
RGD:8695921
RGD:8695919
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
Usher Syndrome Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:7240710
RGD:8554872
RGD:1581470
RGD:8694151
RGD:8694137
RGD:8694135
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:11554173
Usher syndrome type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:7240710
RGD:8554872
RGD:11554173
RGD:1600453
Usher syndrome type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:7240710
RGD:8554872
RGD:8662279
G LOC100361018 rCG22048-like JBrowse link 20 29,947,427 29,954,869 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
Usher syndrome type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:7240710
RGD:8554872
Usher syndrome type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otop2 otopetrin 2 JBrowse link 10 103,874,383 103,883,953 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:7240710
RGD:8554872
Usher syndrome type 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cib2 calcium and integrin binding family member 2 JBrowse link 8 59,123,078 59,139,946 RGD:7240710
RGD:11554173
RGD:8554872
Usher Syndrome Type 1M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:7240710
RGD:8554872
Usher syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547952
RGD:8554872
RGD:8694137
RGD:8547985
RGD:8547965
RGD:8547962
Usher syndrome type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Kctd3 potassium channel tetramerization domain containing 3 JBrowse link 13 107,433,588 107,471,843 RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8547987
RGD:8547961
Usher syndrome type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:7240710
RGD:8554872
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:7240710
RGD:8554872
G Slc4a7 solute carrier family 4 member 7 JBrowse link 15 11,832,611 11,912,923 RGD:13592920
Usher syndrome type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:7240710
RGD:8554872
Usher syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:8554872
Usher syndrome type 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clrn1 clarin 1 JBrowse link 2 149,049,925 149,088,787 RGD:634439
RGD:8554872
RGD:7240710
Usher syndrome type 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:7240710
RGD:8554872
Usher Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:8554872
RGD:7240710
Usher Syndrome, Type ID/F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8554872
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mark3 microtubule affinity regulating kinase 3 JBrowse link 6 136,040,957 136,129,780 RGD:8554872
RGD:7240710
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:1599813
RGD:8554872
RGD:11554173
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    sensory system disease 4697
      eye and adnexa disease 2257
        eye disease 2257
          Vision Disorders 145
            Alice in Wonderland Syndrome 0
            Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
            Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
            Cerebral Visual Impairment and Intellectual Disability 18
            Creutzfeldt-Jakob Disease, Heidenhain Variant 0
            Diplopia 0
            Hemianopsia 0
            Photophobia + 4
            Siegler Brewer Carey Syndrome 0
            Spatial Visualization, Aptitude For 0
            Susac Syndrome 0
            Vision, Low 0
            amblyopia + 3
            blindness + 83
            enhanced S-cone syndrome 3
            nerve fibre bundle defect 0
            night blindness + 28
            scotoma + 0
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              Vision Disorders 145
                Alice in Wonderland Syndrome 0
                Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
                Cerebral Visual Impairment and Intellectual Disability 18
                Creutzfeldt-Jakob Disease, Heidenhain Variant 0
                Diplopia 0
                Hemianopsia 0
                Photophobia + 4
                Siegler Brewer Carey Syndrome 0
                Spatial Visualization, Aptitude For 0
                Susac Syndrome 0
                Vision, Low 0
                amblyopia + 3
                blindness + 83
                enhanced S-cone syndrome 3
                nerve fibre bundle defect 0
                night blindness + 28
                scotoma + 0
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.