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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Attenuation of retinal blood vessels
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Accession:HP:0007843 term browser browse the term
Synonyms:exact_synonym: Narrowing of blood vessels in back of eye
 xref: UMLS:C3278975



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Attenuation of retinal blood vessels term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO OMIM:601718 OMIM:604116 ORPHA:791 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G AGBL5 AGBL carboxypeptidase 5 IAGP HPO OMIM:617023 ORPHA:791 NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622
JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:791 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
JBrowse link
G AHR aryl hydrocarbon receptor IAGP HPO ORPHA:791 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP HPO OMIM:604393 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO OMIM:203800 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 IAGP HPO ORPHA:791 NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485
JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein IAGP HPO ORPHA:791 NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635
JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 IAGP HPO OMIM:618173 ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO OMIM:209900 ORPHA:791 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP HPO OMIM:617020 NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733
JBrowse link
G ATF6 activating transcription factor 6 IAGP HPO ORPHA:49382 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO OMIM:209900 ORPHA:791 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:791 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO OMIM:615986 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
JBrowse link
G BEST1 bestrophin 1 IAGP HPO OMIM:613194 ORPHA:791 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
JBrowse link
G CA4 carbonic anhydrase 4 IAGP HPO ORPHA:791 NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:791 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO OMIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
JBrowse link
G CDHR1 cadherin related family member 1 IAGP HPO OMIM:613660 ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
JBrowse link
G CERKL ceramide kinase like IAGP HPO OMIM:608380 ORPHA:791 NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665
JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO OMIM:617547 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO OMIM:614500 ORPHA:791 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CHM CHM Rab escort protein IAGP HPO OMIM:303100 NCBI chr  X:85,861,180...86,047,558
Ensembl chr  X:85,861,180...86,047,561
JBrowse link
G CLCC1 chloride channel CLIC like 1 IAGP HPO OMIM:609913 NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
JBrowse link
G CLRN1 clarin 1 IAGP HPO OMIM:614180 ORPHA:791 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
JBrowse link
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 IAGP HPO OMIM:613756 ORPHA:791 NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP HPO ORPHA:49382 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB1 cyclic nucleotide gated channel subunit beta 1 IAGP HPO ORPHA:791 NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP HPO ORPHA:49382 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO OMIM:217080 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO OMIM:600105 ORPHA:791 NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
JBrowse link
G CRX cone-rod homeobox IAGP HPO ORPHA:791 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:791 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
JBrowse link
G DHX38 DEAH-box helicase 38 IAGP HPO OMIM:618220 ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:610965 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G EYS eyes shut homolog IAGP HPO OMIM:602772 ORPHA:791 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226
JBrowse link
G FAM161A FAM161 centrosomal protein A IAGP HPO ORPHA:791 NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143
JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO OMIM:617166 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO OMIM:609033 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal IAGP HPO OMIM:607921 ORPHA:791 NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO ORPHA:436274 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP HPO ORPHA:49382 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
G GUCA1B guanylate cyclase activator 1B IAGP HPO ORPHA:791 NCBI chr 6:42,183,284...42,194,956
Ensembl chr 6:42,183,284...42,194,956
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO OMIM:204000 OMIM:601777 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP HPO OMIM:614504 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO ORPHA:791 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
JBrowse link
G HK1 hexokinase 1 IAGP HPO OMIM:617460 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
JBrowse link
G HLA-A major histocompatibility complex, class I, A IAGP HPO ORPHA:179 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO OMIM:619007 ORPHA:791 NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945
JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta IAGP HPO OMIM:612572 ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,395...2,664,219
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 OMIM:617781 ORPHA:791 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:616394 ORPHA:791 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:617871 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT88 intraflagellar transport 88 IAGP HPO ORPHA:791 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G IMPDH1 inosine monophosphate dehydrogenase 1 IAGP HPO OMIM:180105 ORPHA:791 NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986
JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP HPO ORPHA:791 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678
JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO OMIM:613581 ORPHA:791 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575
JBrowse link
G KIAA1549 KIAA1549 IAGP HPO OMIM:618613 ORPHA:791 NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389
JBrowse link
G KIZ kizuna centrosomal protein IAGP HPO ORPHA:791 NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622
JBrowse link
G KLHL7 kelch like family member 7 IAGP HPO ORPHA:791 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
JBrowse link
G LCA5 lebercilin LCA5 IAGP HPO ORPHA:364055 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:364055 ORPHA:791 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
JBrowse link
G MAK male germ cell associated kinase IAGP HPO OMIM:614181 ORPHA:791 NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553
JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase IAGP HPO ORPHA:791 NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:615990 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MVK mevalonate kinase IAGP HPO OMIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NEK2 NIMA related kinase 2 IAGP HPO ORPHA:791 NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO OMIM:608553 OMIM:619260 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP HPO ORPHA:791 NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259
JBrowse link
G NRL neural retina leucine zipper IAGP HPO OMIM:613750 ORPHA:791 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO OMIM:617082 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:300424 ORPHA:791 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PCARE photoreceptor cilium actin regulator IAGP HPO OMIM:613428 ORPHA:791 NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
JBrowse link
G PDE6A phosphodiesterase 6A IAGP HPO OMIM:613810 ORPHA:791 NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793
JBrowse link
G PDE6B phosphodiesterase 6B IAGP HPO OMIM:613801 ORPHA:791 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
JBrowse link
G PDE6C phosphodiesterase 6C IAGP HPO ORPHA:49382 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
JBrowse link
G PDE6G phosphodiesterase 6G IAGP HPO OMIM:613582 ORPHA:791 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
JBrowse link
G PDE6H phosphodiesterase 6H IAGP HPO ORPHA:49382 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:791 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
JBrowse link
G PRCD photoreceptor disc component IAGP HPO OMIM:610599 ORPHA:791 NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578
JBrowse link
G PROM1 prominin 1 IAGP HPO OMIM:612095 ORPHA:791 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
JBrowse link
G PRPF3 pre-mRNA processing factor 3 IAGP HPO ORPHA:791 NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233
JBrowse link
G PRPF31 pre-mRNA processing factor 31 IAGP HPO ORPHA:791 NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719
JBrowse link
G PRPF4 pre-mRNA splicing tri-snRNP complex factor PRPF4 IAGP HPO OMIM:615922 ORPHA:791 NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009
JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP HPO OMIM:613983 ORPHA:791 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
JBrowse link
G PRPF8 pre-mRNA processing factor 8 IAGP HPO OMIM:600059 ORPHA:791 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
JBrowse link
G PRPH2 peripherin 2 IAGP HPO OMIM:608133 ORPHA:52427 ORPHA:791 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 IAGP HPO OMIM:620102 NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228
JBrowse link
G RBP3 retinol binding protein 3 IAGP HPO ORPHA:791 NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881
JBrowse link
G RDH11 retinol dehydrogenase 11 IAGP HPO OMIM:616108 NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793
JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP HPO OMIM:612712 ORPHA:791 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
JBrowse link
G RDH5 retinol dehydrogenase 5 IAGP HPO ORPHA:52427 NCBI chr12:55,720,393...55,724,705
Ensembl chr12:55,720,367...55,724,705
JBrowse link
G REEP6 receptor accessory protein 6 IAGP HPO OMIM:617304 ORPHA:791 NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927
JBrowse link
G RGR retinal G protein coupled receptor IAGP HPO OMIM:613769 ORPHA:791 NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960
JBrowse link
G RHO rhodopsin IAGP HPO OMIM:613731 ORPHA:52427 ORPHA:791 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP HPO ORPHA:52427 ORPHA:791 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP HPO OMIM:608133 ORPHA:791 NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
JBrowse link
G RP1 RP1 axonemal microtubule associated IAGP HPO OMIM:180100 ORPHA:791 NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
JBrowse link
G RP1L1 RP1 like 1 IAGP HPO OMIM:618826 ORPHA:791 NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187
JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP HPO ORPHA:791 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358
JBrowse link
G RP9 RP9 pre-mRNA splicing factor IAGP HPO ORPHA:791 NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO OMIM:204100 OMIM:613794 ORPHA:364055 ORPHA:791 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 HPO
RGD
PMID:20021257 ORPHA:49382 ORPHA:791, RGD:8553233 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO OMIM:613826 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
JBrowse link
G SAG S-antigen visual arrestin IAGP HPO ORPHA:791 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055
JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO OMIM:618195 ORPHA:791 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
JBrowse link
G SEMA4A semaphorin 4A IAGP HPO OMIM:610283 ORPHA:791 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
JBrowse link
G SLC24A1 solute carrier family 24 member 1 IAGP HPO OMIM:613830 NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995
JBrowse link
G SLC6A6 solute carrier family 6 member 6 IAGP HPO OMIM:145350 NCBI chr 3:14,402,576...14,489,349
Ensembl chr 3:14,402,576...14,489,349
JBrowse link
G SLC7A14 solute carrier family 7 member 14 IAGP HPO ORPHA:791 NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075
JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 IAGP HPO OMIM:610359 ORPHA:791 NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271
JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:364055 ORPHA:791 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
JBrowse link
G SSBP1 single stranded DNA binding protein 1 IAGP HPO OMIM:165510 NCBI chr 7:141,738,321...141,750,488
Ensembl chr 7:141,738,334...141,787,922
JBrowse link
G TLCD3B TLC domain containing 3B IAGP HPO OMIM:619531 NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO OMIM:609923 ORPHA:791 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO OMIM:616959 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO OMIM:613464 ORPHA:791 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
JBrowse link
G TUB TUB bipartite transcription factor IAGP HPO OMIM:616188 ORPHA:791 NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
JBrowse link
G TULP1 TUB like protein 1 IAGP HPO OMIM:613843 ORPHA:791 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO OMIM:620342 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
JBrowse link
G USH2A usherin IAGP HPO OMIM:613809 ORPHA:791 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USP45 ubiquitin specific peptidase 45 IAGP HPO OMIM:618513 NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO OMIM:616469 ORPHA:791 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
JBrowse link
G ZNF513 zinc finger protein 513 IAGP HPO OMIM:613617 ORPHA:791 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the cardiovascular system 3985
        Abnormality of the vasculature 2416
          Abnormality of the vasculature of the eye 402
            Abnormal retinal vascular morphology 276
              Attenuation of retinal blood vessels 128
Path 2
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the eye 3538
        Abnormal eye morphology 2878
          Abnormal posterior eye segment morphology 1661
            Abnormal fundus morphology 1652
              Abnormal retinal morphology 1224
                Abnormal retinal vascular morphology 276
                  Attenuation of retinal blood vessels 128
paths to the root