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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:Color vision defect
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Accession:HP:0000551 term browser browse the term
Definition:An anomaly in the ability to discriminate between or recognize colors.
Synonyms:exact_synonym: Abnormal color vision;   Abnormal colour vision;   Abnormality of color vision;   Abnormality of colour vision;   Disturbed color vision;   Disturbed colour vision
 related_synonym: COLOR VISION DEFECT, SEVERE;   COLOR VISION DEFECTS;   Colour vision defect;   Colour vision defect, severe;   Colour vision defects;   Loss in color vision;   Loss in colour vision
 xref: MESH:D003117;   SNOMEDCT_US:23289000;   SNOMEDCT_US:367469000;   UMLS:C0009398;   UMLS:C0234629;   UMLS:C3552853


show annotations for term's descendants           Sort by:
Color vision defect 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:604116 ORPHA:1872 ORPHA:827 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 IAGP HPO ORPHA:1872 NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP HPO ORPHA:1872 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO OMIM:270200 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760 		JBrowse link
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G ATF6 activating transcription factor 6 IAGP HPO ORPHA:1872 ORPHA:49382 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G BEST1 bestrophin 1 IAGP HPO OMIM:193220 ORPHA:1243 ORPHA:99000 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G CABP4 calcium binding protein 4 IAGP HPO OMIM:610427 ORPHA:215 NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO OMIM:300476 ORPHA:178333 ORPHA:1872 ORPHA:215 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 IAGP HPO ORPHA:1872 ORPHA:215 NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CDHR1 cadherin related family member 1 IAGP HPO OMIM:613660 ORPHA:1872 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP HPO ORPHA:1872 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 ORPHA:1872 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Loss in color vision ClinVar
HPO		 PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 More... ORPHA:1872 ORPHA:49382 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP HPO ORPHA:1871 ORPHA:49382 ORPHA:827 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 ORPHA:1873 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874 		JBrowse link
G CRX cone-rod homeobox IAGP HPO OMIM:120970 ORPHA:1872 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 IAGP HPO ORPHA:41751 NCBI chr 4:186,191,567...186,213,463
Ensembl chr 4:186,191,567...186,213,463 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Color vision defect ClinVar PMID:16199547 PMID:16770791 PMID:19937601 PMID:25007885 PMID:27234031 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO ORPHA:2828 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DRAM2 DNA damage regulated autophagy modulator 2 IAGP HPO ORPHA:1872 NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO ORPHA:827 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Loss in color vision ClinVar PMID:25741868 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G GNAT1 G protein subunit alpha transducin 1 IAGP HPO ORPHA:215 NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP HPO ORPHA:1871 ORPHA:49382 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929 		JBrowse link
G GNB3 G protein subunit beta 3 IAGP HPO ORPHA:215 NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393 		JBrowse link
G GPR179 G protein-coupled receptor 179 IAGP HPO ORPHA:215 NCBI chr17:38,324,571...38,343,956
Ensembl chr17:38,324,571...38,343,956 		JBrowse link
G GRK1 G protein-coupled receptor kinase 1 IAGP HPO ORPHA:215 NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 IAGP HPO ORPHA:215 NCBI chr 5:178,978,327...178,995,320
Ensembl chr 5:178,977,587...178,996,206 		JBrowse link
G GUCA1A guanylate cyclase activator 1A IAGP HPO ORPHA:1871 ORPHA:1872 NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO ORPHA:1872 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO OMIM:616544 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO ORPHA:2828 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP HPO ORPHA:99000 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 ORPHA:99000 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		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 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120 		JBrowse link
G LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 IAGP HPO ORPHA:215 NCBI chr 4:109,848,107...109,872,315
Ensembl chr 4:109,848,107...109,872,315 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO ORPHA:2828 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO OMIM:601152 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP HPO ORPHA:14 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP HPO OMIM:608553 ORPHA:1872 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 ClinVar Annotator: match by term: Color vision defect ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G NYX nyctalopin IAGP HPO ORPHA:215 NCBI chr  X:41,447,343...41,475,652
Ensembl chr  X:41,447,343...41,475,710 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:300424 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP HPO ORPHA:1872 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP HPO ORPHA:1872 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPN1SW opsin 1, short wave sensitive IAGP HPO OMIM:190900 NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794 		JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO ORPHA:2828 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G PDE6B phosphodiesterase 6B IAGP HPO ORPHA:215 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782 		JBrowse link
G PDE6C phosphodiesterase 6C IAGP HPO ORPHA:1871 ORPHA:49382 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010 		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 PDXK pyridoxal kinase IAGP HPO OMIM:618511 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G PHF3 PHD finger protein 3 IAGP ClinVar Annotator: match by term: Loss in color vision ClinVar PMID:25741868 NCBI chr 6:63,635,802...63,726,011
Ensembl chr 6:63,635,802...63,779,336 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP HPO ORPHA:2828 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PITPNM3 PITPNM family member 3 IAGP HPO OMIM:600977 ORPHA:1872 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555 		JBrowse link
G POC1B POC1 centriolar protein B IAGP HPO ORPHA:1872 NCBI chr12:89,419,718...89,526,047
Ensembl chr12:89,419,718...89,526,047 		JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:2828 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO ORPHA:2828 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PROM1 prominin 1 IAGP HPO OMIM:612657 ORPHA:1872 ORPHA:827 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPH2 peripherin 2 IAGP HPO OMIM:608161 ORPHA:1872 ORPHA:827 ORPHA:99000 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G RAB28 RAB28, member RAS oncogene family IAGP HPO ORPHA:1872 NCBI chr 4:13,367,724...13,484,340
Ensembl chr 4:13,361,354...13,484,365 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 IAGP HPO ORPHA:1872 NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228 		JBrowse link
G RGS9 regulator of G protein signaling 9 IAGP HPO OMIM:608415 NCBI chr17:65,137,370...65,227,703
Ensembl chr17:65,100,812...65,227,703 		JBrowse link
G RHO rhodopsin IAGP HPO ORPHA:215 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 IAGP HPO ORPHA:1872 NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP HPO OMIM:607476 ORPHA:85128 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP HPO ORPHA:364055 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG HPO
RGD		 PMID:11875055 OMIM:300029 OMIM:304020 ORPHA:1872 ORPHA:49382, RGD:8553227 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 ClinVar Annotator: match by term: Color vision defect HPO
ClinVar		 PMID:11528500 PMID:25741868 OMIM:608194 ORPHA:1872 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RTN4IP1 reticulon 4 interacting protein 1 IAGP HPO OMIM:616732 NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
G SAG S-antigen visual arrestin IAGP HPO ORPHA:215 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:1872 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 ORPHA:215 NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995 		JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:2828 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:364055 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:2828 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TLCD3B TLC domain containing 3B IAGP HPO ORPHA:1872 NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978 		JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 IAGP HPO ORPHA:215 NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP HPO ORPHA:1872 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079 		JBrowse link
G TULP1 TUB like protein 1 IAGP HPO OMIM:613843 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO ORPHA:2828 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO OMIM:620342 ORPHA:1872 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO ORPHA:2828 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
Abnormal Ishihara plate test term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO OMIM:618977 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
Achromatopsia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar
HPO		 PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... OMIM:616517 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Achromatopsia		 ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar
HPO		 PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... OMIM:216900 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Achromatopsia
ClinVar Annotator: match by term: Rod monochromacy		 ClinVar
HPO		 PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... OMIM:262300 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar
HPO		 PMID:25741868 OMIM:613856 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO OMIM:614800 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G PDE6C phosphodiesterase 6C IAGP ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Achromatopsia		 ClinVar PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010 		JBrowse link
Blue cone monochromacy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC125467793 Sharpr-MPRA regulatory region 3572 IAGP ClinVar Annotator: match by term: Incomplete achromatopsia ClinVar NCBI chr  X:154,136,674...154,136,968 JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: S-cone monochromacy
ClinVar Annotator: match by term: Incomplete achromatopsia		 ClinVar
HPO		 PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868 OMIM:303700 ORPHA:16 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: S-cone monochromacy ClinVar
HPO		 PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... OMIM:303700 ORPHA:16 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: S-cone monochromacy ClinVar NCBI chr  X:154,137,727...154,144,286 JBrowse link
Color vision test abnormality term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:329308 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		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 OPN1SW opsin 1, short wave sensitive IAGP HPO ORPHA:88629 NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794 		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 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 RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:49382 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
Deuteranomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Deuteranomaly ClinVar
HPO		 PMID:12051694 PMID:12626747 OMIM:303800 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Deuteranomaly ClinVar PMID:25741868 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286 		JBrowse link
Deuteranopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Deuteranopia ClinVar PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
Dyschromatopsia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO OMIM:618977 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G BEST1 bestrophin 1 IAGP HPO OMIM:193220 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515 		JBrowse link
G CEP78 centrosomal protein 78 IAGP HPO OMIM:617236 NCBI chr 9:78,236,075...78,279,690
Ensembl chr 9:78,236,062...78,279,690 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP HPO OMIM:262300 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675 		JBrowse link
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Color blindness ClinVar PMID:25741868 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G GRK1 G protein-coupled receptor kinase 1 IAGP HPO ORPHA:75382 NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736 		JBrowse link
G GUCA1A guanylate cyclase activator 1A IAGP HPO ORPHA:75377 NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO OMIM:601777 ORPHA:75377 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP HPO OMIM:153870 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G LOC111365204 CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 IAGP HPO OMIM:136550 NCBI chr 6:99,592,885...99,593,339 JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:254930 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple HPO
RGD		 PMID:17306754 OMIM:125250, RGD:7800704 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPN1SW opsin 1, short wave sensitive IAGP HPO OMIM:190900 NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794 		JBrowse link
G PDE6C phosphodiesterase 6C IAGP HPO OMIM:613093 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010 		JBrowse link
G PDE6H phosphodiesterase 6H IAGP HPO OMIM:610024 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865 		JBrowse link
G PHF3 PHD finger protein 3 IAGP ClinVar Annotator: match by term: Color blindness ClinVar PMID:25741868 NCBI chr 6:63,635,802...63,726,011
Ensembl chr 6:63,635,802...63,779,336 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:258450 ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PROM1 prominin 1 IAGP HPO OMIM:608051 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPH2 peripherin 2 IAGP HPO ORPHA:75377 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G SAG S-antigen visual arrestin IAGP HPO ORPHA:75382 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM126A transmembrane protein 126A IAGP HPO OMIM:612989 NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547 		JBrowse link
Monochromacy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A
ClinVar Annotator: match by term: Colorblindness, total
ClinVar Annotator: match by term: Monochromacy		 HPO
ClinVar
RGD		 PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... ORPHA:49382, RGD:9068452 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP DNA:deletion: :c.1148delC (p.T383Xfs) HPO
RGD		 PMID:17265047 OMIM:262300 ORPHA:49382, RGD:9068446 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 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 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 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 RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:49382 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
Protanomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: COLORBLINDNESS, PARTIAL, PROTAN SERIES ClinVar
HPO		 PMID:8666378 PMID:12051694 PMID:15094734 PMID:25741868 OMIM:303900 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
Red-green dyschromatopsia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 IAGP HPO OMIM:616289 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP HPO ORPHA:67042 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G FGF14 fibroblast growth factor 14 IAGP HPO ORPHA:98764 NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO OMIM:616170 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP HPO OMIM:611131 NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO OMIM:125250 OMIM:165500 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
Tritanomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 IAGP HPO ORPHA:67042 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO OMIM:610708 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO OMIM:618555 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP HPO OMIM:611131 NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO OMIM:125250 OMIM:165500 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G OPN1SW opsin 1, short wave sensitive IAGP ClinVar Annotator: match by term: Tritanomaly ClinVar
HPO		 PMID:1386496 PMID:1531728 PMID:2937147 PMID:25741868 PMID:28492532 OMIM:190900 ORPHA:88629 NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794 		JBrowse link
G POC1B POC1 centriolar protein B IAGP HPO OMIM:615973 NCBI chr12:89,419,718...89,526,047
Ensembl chr12:89,419,718...89,526,047 		JBrowse link
G RBP4 retinol binding protein 4 IAGP HPO OMIM:615147 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Abnormality of the eye 3395
        Abnormal eye physiology 2609
          Abnormality of vision 1374
            Color vision defect 126
              Color vision test abnormality + 10
              Dyschromatopsia + 35
              Monochromacy + 14
paths to the root