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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:Abnormal retinal morphology
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Accession:HP:0000479 term browser browse the term
Definition:A structural abnormality of the retina.
Synonyms:exact_synonym: Abnormal retina;   Abnormality of the retina;   Anomaly of the retina;   Retina issue
 related_synonym: Retinal disease
 alt_id: HP:0007938
 xref: SNOMEDCT_US:29555009;   UMLS:C0035300;   UMLS:C0035309



show annotations for term's descendants           Sort by:
Abnormal retinal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP ClinVar Annotator: match by term: Abnormal retinal morphology ClinVar PMID:10634594 PMID:10958763 PMID:11726554 PMID:12515255 PMID:17562343 More... NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G ATCAY ATCAY kinesin light chain interacting caytaxin IAGP HPO MIM:601238 ORPHA:94122 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082
JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP DNA:frameshift mutation:exon:p.C57X RGD PMID:11812423 RGD:8657385 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO MIM:614615 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO MIM:219750 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP ClinVar Annotator: match by term: Abnormal retinal morphology ClinVar PMID:25741868 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B*38
DNA:polymorphism:cds:HLA-Bw62
associated with HIV Infections;DNA:polymorphisms, haplotype:cds:HLA-B44
RGD PMID:24033735 PMID:2801857 PMID:11564593 RGD:7365093, RGD:7365119, RGD:7365106 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
JBrowse link
G KRT25 keratin 25 IAGP HPO ORPHA:170 NCBI chr17:40,748,021...40,755,542
Ensembl chr17:40,748,021...40,755,331
JBrowse link
G KRT71 keratin 71 IAGP HPO ORPHA:170 NCBI chr12:52,543,909...52,553,145
Ensembl chr12:52,543,909...52,553,145
JBrowse link
G KRT74 keratin 74 IAGP HPO ORPHA:170 NCBI chr12:52,565,782...52,573,843
Ensembl chr12:52,565,782...52,573,843
JBrowse link
G LIPH lipase H IAGP HPO ORPHA:170 NCBI chr 3:185,506,262...185,552,588
Ensembl chr 3:185,506,262...185,552,588
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 IAGP HPO ORPHA:170 NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:89844 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
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 PDZD7 PDZ domain containing 7 IAGP HPO MIM:618003 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) RGD PMID:23335958 RGD:7241840 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G RELN reelin IAGP HPO ORPHA:89844 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
JBrowse link
G SLC24A2 solute carrier family 24 member 2 IAGP ClinVar Annotator: match by term: Abnormal retinal morphology ClinVar PMID:12037007 PMID:25741868 NCBI chr 9:19,507,455...20,307,892
Ensembl chr 9:19,507,452...19,789,037
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 TYR tyrosinase IAGP ClinVar Annotator: match by term: Abnormal retinal morphology ClinVar PMID:1899321 PMID:2903492 PMID:16517127 PMID:20861488 PMID:25216246 More... NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
Abnormal chorioretinal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CFB complement factor B no_association IAGP DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) RGD PMID:19001225 RGD:7411728 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CFH complement factor H IAGP DNA:SNPs, missense mutation:introns, cds:multiple RGD PMID:19001225 RGD:7411728 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO ORPHA:5 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
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 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP DNA:snp:3' utr:g.*397A>C (rs3135499) RGD PMID:23100559 RGD:8547527 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127
JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
JBrowse link
Abnormal foveal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO ORPHA:827 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP HPO ORPHA:827 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G PROM1 prominin 1 IAGP HPO 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 ORPHA:827 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP HPO ORPHA:85128 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
JBrowse link
G RS1 retinoschisin 1 IAGP HPO ORPHA:792 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
Abnormal macular morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP ClinVar Annotator: match by term: Abnormal macular morphology ClinVar PMID:3002862 PMID:9054934 PMID:10090887 PMID:10612508 PMID:10634594 More... NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP HPO ORPHA:54 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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 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 COG1 component of oligomeric golgi complex 1 IAGP HPO ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:608799 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
JBrowse link
G EDN3 endothelin 3 IAGP HPO ORPHA:897 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
JBrowse link
G EDNRB endothelin receptor type B IAGP HPO ORPHA:897 NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO ORPHA:90050 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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 GPR143 G protein-coupled receptor 143 IAGP HPO ORPHA:54 NCBI chr  X:9,725,346...9,778,602
Ensembl chr  X:9,725,346...9,786,297
JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility IAGP DNA:polymorphisms:multiple
DNA:snp:promoter:g.-625G>A (rs11200638)
RGD PMID:20157352 PMID:22800422 RGD:7387295, RGD:7387322 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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 LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:90050 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO ORPHA:897 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:190 ORPHA:90050 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Abnormal macular morphology ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G OAT ornithine aminotransferase IAGP HPO ORPHA:414 NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976
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 PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
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...68,451,103
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG HPO
RGD
PMID:11875055 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 SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:607616 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:897 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 USH2A usherin IAGP ClinVar Annotator: match by term: Abnormal macular morphology ClinVar PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
Abnormal retinal artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Abnormal retinal nerve fiber layer morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:1215 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
Abnormal retinal vascular morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO 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 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 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 ARF 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 ARF like GTPase 3 IAGP HPO ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO ORPHA:791 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO 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 BEST1 bestrophin 1 IAGP HPO 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 CDHR1 cadherin related family member 1 IAGP HPO ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
JBrowse link
G CEP290 centrosomal protein 290 IAGP associated with Leber congenital amaurosis;DNA:SNPs, deletions, duplications:introns, CDS:multiple (human) RGD PMID:22355252 RGD:329901760 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CERKL CERK like autophagy regulator IAGP HPO ORPHA:791 NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665
JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:791 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO MIM:607364 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G CLRN1 clarin 1 IAGP HPO 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 ORPHA:791 NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681
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 CRB1 crumbs cell polarity complex component 1 IAGP HPO 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 CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
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 ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO ORPHA:269 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G DUX4 double homeobox 4 IAGP HPO ORPHA:269 NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942
JBrowse link
G DUX4L1 double homeobox 4 like 1 (pseudogene) IAGP HPO ORPHA:269 NCBI chr 4:190,084,412...190,085,696
Ensembl chr 4:190,084,412...190,085,686
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP HPO MIM:602473 NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
JBrowse link
G EYS eyes shut homolog IAGP HPO 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 FRG1 FSHD region gene 1 IAGP HPO ORPHA:269 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202
JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal IAGP HPO ORPHA:791 NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO ORPHA:90050 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO ORPHA:3205 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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 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 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 HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B12 (human)
associated with Behcet Syndrome;DNA:polymorphism:cds HLA B-5
RGD PMID:3341436 PMID:12608042 RGD:7365121, RGD:7364920 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO 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 ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO 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 ORPHA:791 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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 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 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 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 LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:791 NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:90050 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MAK male germ cell associated kinase IAGP HPO 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 MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO ORPHA:33226 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:190 ORPHA:649 ORPHA:90050 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
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 NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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 ORPHA:791 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO 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 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 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 ORPHA:791 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
JBrowse link
G PDE6G phosphodiesterase 6G IAGP HPO ORPHA:791 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
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 PPARG peroxisome proliferator activated receptor gamma susceptibility IAGP DNA:snp:cds:p.P12A (rs1801282) RGD PMID:23559865 RGD:8552820 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PRCD photoreceptor disc component IAGP HPO 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 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 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 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 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 ORPHA:791 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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 RDH12 retinol dehydrogenase 12 IAGP HPO ORPHA:791 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
JBrowse link
G REEP6 receptor accessory protein 6 IAGP HPO 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 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 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: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 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 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 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 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 HPO ORPHA:791 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544
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 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 ORPHA:791 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:269 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 IAGP HPO 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:791 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:791 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO 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 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 ORPHA:791 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
JBrowse link
G USH2A usherin IAGP HPO ORPHA:791 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO 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 ORPHA:791 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
JBrowse link
Abnormality of chorioretinal pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST1 bestrophin 1 IAGP HPO MIM:193220 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
JBrowse link
Abnormality of macular pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO ORPHA:827 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO MIM:300476 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371
JBrowse link
G CDH3 cadherin 3 IAGP HPO ORPHA:1573 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP HPO ORPHA:827 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 LOC111365204 CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 IAGP HPO MIM:136550 NCBI chr 6:99,592,885...99,593,339 JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Abnormality of macular pigmentation ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP HPO MIM:303700 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 MIM:303700 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO MIM:608940 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PROM1 prominin 1 IAGP HPO 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 ORPHA:827 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
JBrowse link
G RD3 RD3 regulator of GUCY2D IAGP HPO MIM:610612 NCBI chr 1:211,476,522...211,492,162
Ensembl chr 1:211,476,522...211,492,162
JBrowse link
Abnormality of retinal pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO ORPHA:1872 ORPHA:791 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 AGBL5 AGBL carboxypeptidase 5 IAGP HPO 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 ORPHA:1872 ORPHA:65 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 IAGP HPO ORPHA:35612 NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,861,924...100,916,626
JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO ORPHA:816 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:873 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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 ARF 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 ARF like GTPase 3 IAGP HPO ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO ORPHA:791 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ATF6 activating transcription factor 6 IAGP HPO ORPHA:1872 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 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 BEST1 bestrophin 1 IAGP HPO ORPHA:35612 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 CABP4 calcium binding protein 4 IAGP HPO 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 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 CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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 CDH3 cadherin 3 IAGP HPO ORPHA:1897 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G CDHR1 cadherin related family member 1 IAGP HPO ORPHA:1872 ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
JBrowse link
G CEP164 centrosomal protein 164 IAGP HPO ORPHA:3156 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266
JBrowse link
G CEP290 centrosomal protein 290 IAGP associated with Leber congenital amaurosis;DNA:SNPs, deletions, duplications:introns, CDS:multiple (human) HPO
RGD
PMID:22355252 ORPHA:3156 ORPHA:65, RGD:329901760 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CERKL CERK like autophagy regulator IAGP HPO 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 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 ORPHA:791 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CFH complement factor H IAGP HPO ORPHA:75376 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFI complement factor I IAGP HPO ORPHA:75376 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G CHM CHM Rab escort protein IAGP HPO ORPHA:180 NCBI chr  X:85,861,180...86,047,558
Ensembl chr  X:85,861,180...86,047,561
JBrowse link
G CLDN19 claudin 19 IAGP HPO ORPHA:2196 NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
JBrowse link
G CLRN1 clarin 1 IAGP HPO 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 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:1872 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:1871 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 COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO ORPHA:35612 ORPHA:65 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:1872 ORPHA:65 ORPHA:791 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:873 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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 ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EDN3 endothelin 3 IAGP HPO ORPHA:897 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
JBrowse link
G EDNRB endothelin receptor type B IAGP HPO ORPHA:897 NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO ORPHA:75376 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G ELMO2 engulfment and cell motility 2 IAGP HPO ORPHA:3019 NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985
JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Abnormality of retinal pigment epithelium ClinVar
HPO
PMID:25741868 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 FLCN folliculin IAGP HPO ORPHA:122 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G FLNB filamin B IAGP HPO MIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal IAGP HPO ORPHA:791 NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO ORPHA:65 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
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 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 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 ORPHA:1872 ORPHA:65 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO ORPHA:5 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
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 HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B12 RGD PMID:3341436 RGD:7365121 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO 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 ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO MIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:474 ORPHA:65 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 ORPHA:474 ORPHA:791 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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 ORPHA:65 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 ORPHA:791 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575
JBrowse link
G INVS inversin IAGP HPO ORPHA:3156 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175
JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:3156 ORPHA:65 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 IAGP HPO ORPHA:65 NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565
JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
JBrowse link
G KIAA1549 KIAA1549 IAGP HPO ORPHA:791 NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389
JBrowse link
G KIF11 kinesin family member 11 IAGP HPO ORPHA:2526 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
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 ORPHA:65 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LRAT lecithin retinol acyltransferase IAGP HPO ORPHA:364055 ORPHA:65 ORPHA:791 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 LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
JBrowse link
G MAK male germ cell associated kinase IAGP HPO ORPHA:791 NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553
JBrowse link
G MC1R melanocortin 1 receptor IAGP HPO ORPHA:79432 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP HPO ORPHA:578 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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 MFRP membrane frizzled-related protein IAGP HPO ORPHA:35612 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO ORPHA:897 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
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 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 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
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 ORPHA:1872 ORPHA:65 NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:3156 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3156 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G NPHP4 nephrocystin 4 IAGP HPO ORPHA:3156 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473
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 ORPHA:791 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
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 OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:79432 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:791 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP HPO ORPHA:16 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:16 ORPHA:1872 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:35612 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:35737 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PCARE photoreceptor cilium actin regulator IAGP HPO ORPHA:791 NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO ORPHA:65 ORPHA:85167 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PDE6A phosphodiesterase 6A IAGP HPO 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 ORPHA:215 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:1871 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
JBrowse link
G PDE6G phosphodiesterase 6G IAGP HPO ORPHA:791 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
JBrowse link
G PEPD peptidase D IAGP HPO ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:44 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:44 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:44 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:44 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:44 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:44 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:44 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:44 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO ORPHA:44 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:44 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:44 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:44 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:44 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO ORPHA:773 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
JBrowse link
G PHF3 PHD finger protein 3 IAGP ClinVar Annotator: match by term: Abnormality of retinal pigment epithelium ClinVar PMID:25741868 NCBI chr 6:63,635,802...63,726,011
Ensembl chr 6:63,635,802...63,779,336
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO ORPHA:773 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:108145 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PITPNM3 PITPNM family member 3 IAGP HPO ORPHA:1872 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
JBrowse link
G PLK4 polo like kinase 4 IAGP HPO ORPHA:2518 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:1173 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POC1B POC1 centriolar protein B IAGP HPO ORPHA:1872 NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
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 ORPHA:791 NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578
JBrowse link
G PRDM10 PR/SET domain 10 IAGP HPO ORPHA:122 NCBI chr11:129,899,711...130,002,835
Ensembl chr11:129,899,706...130,002,835
JBrowse link
G PROM1 prominin 1 IAGP HPO ORPHA:1872 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 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 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 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 ClinVar Annotator: match by term: Abnormality of retinal pigmentation HPO
ClinVar
PMID:8994365 PMID:17504850 PMID:25741868 PMID:28492532 PMID:32531846 More... ORPHA:1872 ORPHA:791 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
JBrowse link
G PRSS56 serine protease 56 IAGP HPO ORPHA:35612 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117
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 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RAX retina and anterior neural fold homeobox IAGP HPO ORPHA:35612 NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086
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 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 RD3 RD3 regulator of GUCY2D IAGP HPO ORPHA:65 NCBI chr 1:211,476,522...211,492,162
Ensembl chr 1:211,476,522...211,492,162
JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP HPO ORPHA:65 ORPHA:791 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
JBrowse link
G REEP6 receptor accessory protein 6 IAGP HPO 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 ORPHA:791 NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960
JBrowse link
G RHO rhodopsin IAGP ClinVar Annotator: match by term: Abnormality of retinal pigmentation ClinVar
HPO
PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 More... ORPHA:215 ORPHA:791 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 ORPHA:791 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNF216 ring finger protein 216 IAGP HPO ORPHA:1173 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G ROM1 retinal outer segment membrane protein 1 IAGP HPO 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 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 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 ORPHA:364055 ORPHA:65 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 HPO ORPHA:1872 ORPHA:791 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 ORPHA:1872 ORPHA:65 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SAG S-antigen visual arrestin IAGP HPO ORPHA:215 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 ORPHA:791 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:3156 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:1872 ORPHA:791 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
JBrowse link
G SIX6 SIX homeobox 6 IAGP HPO ORPHA:35612 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO ORPHA:1496 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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 SLC45A2 solute carrier family 45 member 2 IAGP HPO ORPHA:79435 NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
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 ORPHA:791 NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:897 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO ORPHA:35612 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SPATA7 spermatogenesis associated 7 IAGP HPO ORPHA:364055 ORPHA:65 ORPHA:791 NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273
JBrowse link
G TAF2 TATA-box binding protein associated factor 2 IAGP HPO ORPHA:397951 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863
JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
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 TMEM98 transmembrane protein 98 IAGP HPO ORPHA:35612 NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:2801 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:2801 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Abnormality of retinal pigment epithelium
ClinVar Annotator: match by term: Abnormality of retinal pigmentation
ClinVar
HPO
PMID:25741868 PMID:26720483 PMID:28492532 ORPHA:791 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO ORPHA:3156 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
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 TTC21B tetratricopeptide repeat domain 21B IAGP HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:791 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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 TTPA alpha tocopherol transfer protein IAGP HPO ORPHA:96 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053
JBrowse link
G TUB TUB bipartite transcription factor IAGP HPO ORPHA:791 NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP HPO ORPHA:65 NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707
JBrowse link
G TUBGCP4 tubulin gamma complex component 4 IAGP HPO ORPHA:2518 NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771
JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP HPO MIM:251270 ORPHA:2518 NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023
JBrowse link
G TULP1 TUB like protein 1 IAGP HPO ORPHA:65 ORPHA:791 NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
JBrowse link
G TYR tyrosinase IAGP HPO ORPHA:79434 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO ORPHA:1872 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
JBrowse link
G USH2A usherin IAGP HPO 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 ORPHA:65 NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:3156 ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO 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 ORPHA:791 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
JBrowse link
Absent foveal reflex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP HPO MIM:616517 ORPHA:49382 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO MIM:300476 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP HPO MIM:216900 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 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 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO MIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:300424 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PDE6C phosphodiesterase 6C IAGP HPO MIM:613093 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 MIM:613582 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 PRPH2 peripherin 2 IAGP HPO MIM:169150 ORPHA:52427 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
JBrowse link
G RBP4 retinol binding protein 4 IAGP HPO MIM:615147 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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 RHO rhodopsin IAGP HPO ORPHA:52427 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 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 MIM:204100 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 HPO ORPHA:49382 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 MIM:613826 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
JBrowse link
G RS1 retinoschisin 1 IAGP HPO ORPHA:792 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G TLCD3B TLC domain containing 3B IAGP HPO MIM:619531 NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978
JBrowse link
Angioid streaks of the fundus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO
RGD
PMID:15459974 MIM:177850 MIM:264800 ORPHA:51608 ORPHA:758, RGD:11038778 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO MIM:211900 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO MIM:610842 ORPHA:91135 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO MIM:239000 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
JBrowse link
Aplasia/Hypoplasia of the macula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO ORPHA:827 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP HPO ORPHA:827 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 FOXC1 forkhead box C1 IAGP HPO ORPHA:250923 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G MYO5A myosin VA IAGP HPO ORPHA:33445 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:250923 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PROM1 prominin 1 IAGP HPO 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 ORPHA:827 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
JBrowse link
G SLC24A5 solute carrier family 24 member 5 IAGP HPO ORPHA:370097 NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672
JBrowse link
G TRIM44 tripartite motif containing 44 IAGP HPO ORPHA:250923 NCBI chr11:35,662,775...35,818,007
Ensembl chr11:35,662,775...35,818,007
JBrowse link
Attenuation of retinal blood vessels term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO MIM:601718 MIM:604116 ORPHA:1872 ORPHA:791 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 AGBL5 AGBL carboxypeptidase 5 IAGP HPO MIM: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 MIM:604393 ORPHA:1872 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 MIM: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 ARF 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 ARF like GTPase 3 IAGP HPO MIM:618173 ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM: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 MIM: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:1872 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 MIM: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 BBS5 Bardet-Biedl syndrome 5 IAGP HPO MIM:615983 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO MIM: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 MIM: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 CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO ORPHA:1872 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 NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666
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 MIM: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 MIM:613660 ORPHA:1872 ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
JBrowse link
G CERKL CERK like autophagy regulator IAGP HPO MIM: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 MIM:617547 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 MIM:614500 ORPHA:1872 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 MIM: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 MIM: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 MIM: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 MIM: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:1872 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 MIM: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 MIM: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 MIM: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:1872 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 MIM:618220 ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 GUCA1A guanylate cyclase activator 1A IAGP HPO ORPHA:1872 NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338
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 MIM:204000 MIM:601777 ORPHA:1872 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 MIM: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 MIM: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 MIM: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 MIM:612572 ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM:608553 MIM:619260 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 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 MIM: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 MIM: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 MIM:300424 ORPHA:791 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
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 PCARE photoreceptor cilium actin regulator IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 PITPNM3 PITPNM family member 3 IAGP HPO 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 chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
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 MIM: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 MIM:612095 ORPHA:1872 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 MIM: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 MIM: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 MIM: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 MIM:608133 ORPHA:1872 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 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 MIM:620102 ORPHA:1872 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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 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 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 MIM: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 MIM: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 MIM: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 MIM:204100 MIM: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:1872 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 MIM:608194 MIM:613826 ORPHA:1872 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 MIM: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 MIM:610283 ORPHA:1872 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 MIM: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 MIM: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 MIM: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 MIM: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 MIM:619531 ORPHA:1872 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 MIM: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 MIM: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 MIM:613464 ORPHA:791 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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 TUB TUB bipartite transcription factor IAGP HPO MIM: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 MIM: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 MIM:620342 ORPHA:1872 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
JBrowse link
G USH2A usherin IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM:613617 ORPHA:791 NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
JBrowse link
Beaten bronze macular sheen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP418 cilia and flagella associated protein 418 IAGP HPO MIM:614500 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
Bone spicule pigmentation of the retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO MIM:601718 ORPHA:1872 ORPHA:791 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 AGBL5 AGBL carboxypeptidase 5 IAGP HPO MIM: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 ORPHA:1872 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
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 ARF 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 ARF like GTPase 3 IAGP HPO MIM:618173 ORPHA:791 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 ORPHA:791 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ARSG arylsulfatase G IAGP HPO MIM:618144 NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
JBrowse link
G ATF6 activating transcription factor 6 IAGP HPO ORPHA:1872 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 MIM: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 BBS5 Bardet-Biedl syndrome 5 IAGP HPO MIM:615983 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO MIM: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 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 CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP HPO ORPHA:1872 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 NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666
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 MIM: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 ORPHA:1872 ORPHA:791 NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
JBrowse link
G CERKL CERK like autophagy regulator IAGP HPO 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 MIM:617547 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 MIM:614500 ORPHA:1872 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 MIM: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 MIM: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 MIM: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 MIM: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:1872 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 MIM:613767 ORPHA:791 NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 IAGP HPO MIM:217080 NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP HPO MIM:172870 MIM: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 MIM:120970 ORPHA:1872 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 MIM:618220 ORPHA:791 NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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 EYS eyes shut homolog IAGP HPO MIM: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 MIM:606068 ORPHA:791 NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143
JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO MIM:609033 ORPHA:88628 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 MIM:607921 ORPHA:791 NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
JBrowse link
G GRM6 glutamate metabotropic receptor 6 IAGP HPO MIM:257270 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:1872 NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338
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 MIM:601777 ORPHA:1872 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:616544 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 MIM:617460 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO MIM: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 ORPHA:791 NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO MIM: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 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 MIM: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 DNA:missense mutation:exon:p.R224P HPO
RGD
PMID:11875049 MIM:180105 ORPHA:791, RGD:5144221 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 MIM: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 MIM: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 LZTFL1 leucine zipper transcription factor like 1 IAGP HPO MIM:615994 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G MAK male germ cell associated kinase IAGP HPO MIM: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 MFRP membrane frizzled-related protein IAGP HPO MIM:611040 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:615990 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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 MIM: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 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 MIM:613750 ORPHA:791 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:791 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
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 PCARE photoreceptor cilium actin regulator IAGP HPO MIM: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 MIM: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 MIM:613801 ORPHA:791 NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
JBrowse link
G PDE6G phosphodiesterase 6G IAGP HPO MIM:613582 ORPHA:791 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
JBrowse link
G PISD phosphatidylserine decarboxylase IAGP HPO MIM:618889 NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,491...31,662,221
JBrowse link
G PITPNM3 PITPNM family member 3 IAGP HPO 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 MIM:615973 ORPHA:1872 NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:617123 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 MIM: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 MIM:612095 ORPHA:1872 ORPHA:791 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378