ONTOLOGY REPORT - ANNOTATIONS
Term: photoreceptor cell differentiation
Accession: GO:0046530
browse the term
Definition: The specialization of organization of a photoreceptor, a cell that responds to incident electromagnetic radiation, particularly visible light. An example of this process is found in Drosophila melanogaster.
Synonyms: alt_id: GO:0007467
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BBS10
Bardet-Biedl syndrome 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
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CFH
complement factor H
acts_upstream_of_or_within
ISO
(PMID:26149919), (PMID:30705315)
MGI
PMID:26149919 PMID:30705315
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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ELP6
elongator acetyltransferase complex subunit 6
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:47,495,640...47,513,712
Ensembl chr 3:47,495,640...47,513,712
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EPG5
ectopic P-granules 5 autophagy tethering factor
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
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DSCAM
DS cell adhesion molecule
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr21:40,010,999...40,847,158
Ensembl chr21:40,010,999...40,847,158
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PROM1
prominin 1
involved_in
ISS IBA IMP
(PMID:18654668)
UniProt GO_Central BHF-UCL
PMID:18654668
GO_REF:0000024 GO_REF:0000033
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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ROM1
retinal outer segment membrane protein 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
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SDK2
sidekick cell adhesion molecule 2
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr17:73,334,384...73,644,445
Ensembl chr17:73,334,384...73,644,445
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SLC4A7
solute carrier family 4 member 7
acts_upstream_of_or_within
ISO
(PMID:12808454)
MGI
PMID:12808454
NCBI chr 3:27,372,723...27,484,384
Ensembl chr 3:27,372,723...27,484,420
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TTC8
tetratricopeptide repeat domain 8
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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IHH
Indian hedgehog signaling molecule
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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AHI1
Abelson helper integration site 1
involved_in
ISO
(PMID:20081859)
CACAO
PMID:20081859
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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CEP290
centrosomal protein 290
involved_in
ISS
(PMID:16682973)
HGNC-UCL
PMID:16682973
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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CRB1
crumbs cell polarity complex component 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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DZANK1
double zinc ribbon and ankyrin repeat domains 1
acts_upstream_of_or_within involved_in
ISS IBA
UniProt GO_Central
GO_REF:0000024 GO_REF:0000033
NCBI chr20:18,383,367...18,467,030
Ensembl chr20:18,383,367...18,467,281
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FSCN2
fascin actin-bundling protein 2, retinal
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
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GABRR2
gamma-aminobutyric acid type A receptor subunit rho2
NOT|acts_upstream_of_or_within
ISO
(PMID:12019334)
MGI
PMID:12019334
NCBI chr 6:89,254,464...89,315,299
Ensembl chr 6:89,254,464...89,315,299
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GNAT1
G protein subunit alpha transducin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696
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GNGT1
G protein subunit gamma transducin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:93,906,567...93,911,265
Ensembl chr 7:93,591,573...93,911,265
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MFRP
membrane frizzled-related protein
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
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MYO7A
myosin VIIA
involved_in
IC
(PMID:8842737)
UniProt
PMID:8842737
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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NR2E3
nuclear receptor subfamily 2 group E member 3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259
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OLFM3
olfactomedin 3
involved_in
ISO IEA
RGD Ensembl
PMID:12019210
GO_REF:0000107 RGD:633402
NCBI chr 1:101,802,560...101,996,926
Ensembl chr 1:101,802,560...101,996,926
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PAX6
paired box 6
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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PDGFB
platelet derived growth factor subunit B
acts_upstream_of_or_within
ISO
(PMID:25224828)
MGI
PMID:25224828
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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POC5
POC5 centriolar protein
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:75,674,124...75,717,437
Ensembl chr 5:75,674,124...75,717,448
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PRDM1
PR/SET domain 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939
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PRKCI
protein kinase C iota
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:170,222,424...170,305,977
Ensembl chr 3:170,222,424...170,305,977
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RDH13
retinol dehydrogenase 13
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:55,039,103...55,069,520
Ensembl chr19:55,039,108...55,071,291
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RORB
RAR related orphan receptor B
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
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RPGR
retinitis pigmentosa GTPase regulator
acts_upstream_of_or_within involved_in
ISO ISS
(PMID:12651948)
MGI UniProt
PMID:12651948
GO_REF:0000024
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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RPGRIP1
RPGR interacting protein 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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TH
tyrosine hydroxylase
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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TULP1
TUB like protein 1
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
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VEGFA
vascular endothelial growth factor A
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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AGTPBP1
ATP/GTP binding carboxypeptidase 1
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
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NKD1
NKD inhibitor of WNT signaling pathway 1
involved_in
ISS
(PMID:15687260)
BHF-UCL
PMID:15687260
NCBI chr16:50,548,396...50,649,249
Ensembl chr16:50,548,396...50,649,249
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PPP2R3A
protein phosphatase 2 regulatory subunit B''alpha
involved_in
IGI
(PMID:15687260)
BHF-UCL
PMID:15687260
NCBI chr 3:135,965,728...136,147,894
Ensembl chr 3:135,965,728...136,147,894
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STAT3
signal transducer and activator of transcription 3
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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OTX2
orthodenticle homeobox 2
acts_upstream_of_or_within
ISO
(PMID:14625556)
MGI
PMID:14625556
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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CNTF
ciliary neurotrophic factor
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
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DLX1
distal-less homeobox 1
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:172,085,507...172,089,674
Ensembl chr 2:172,084,740...172,089,677
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DLX2
distal-less homeobox 2
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:172,099,438...172,102,900
Ensembl chr 2:172,099,438...172,102,900
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NOTCH1
notch receptor 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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SOX8
SRY-box transcription factor 8
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:981,770...986,979
Ensembl chr16:981,444...986,979
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SOX9
SRY-box transcription factor 9
involved_in acts_upstream_of_or_within
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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CASZ1
castor zinc finger 1
acts_upstream_of_or_within
ISO
(PMID:25654255)
MGI
PMID:25654255
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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ARL3
ARF like GTPase 3
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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FAM151B
family with sequence similarity 151 member B
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 5:80,488,100...80,542,563
Ensembl chr 5:80,487,969...80,542,563
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RP1
RP1 axonemal microtubule associated
involved_in
ISS IBA IEA
UniProt GO_Central Ensembl
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
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RP1L1
RP1 like 1
involved_in
ISS IBA
UniProt GO_Central
GO_REF:0000024 GO_REF:0000033
NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187
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TUG1
taurine up-regulated 1
acts_upstream_of_or_within
ISO
(PMID:15797018)
MGI
PMID:15797018
NCBI chr22:30,969,265...30,979,395
Ensembl chr22:30,969,245...30,979,395
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BBS1
Bardet-Biedl syndrome 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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CABP4
calcium binding protein 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752
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CDHR1
cadherin related family member 1
involved_in
IMP
(PMID:23044944)
UniProt
PMID:23044944
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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CFAP418
cilia and flagella associated protein 418
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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GRK1
G protein-coupled receptor kinase 1
acts_upstream_of_or_within
ISO
(PMID:10097103)
MGI
PMID:10097103
NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736
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MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid
acts_upstream_of_or_within
ISS IEA
ARUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
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RABL2B
RAB, member of RAS oncogene family like 2B
involved_in
ISO
(PMID:28625565)
UniProt
PMID:28625565
NCBI chr22:50,767,506...50,783,636
Ensembl chr22:50,767,501...50,783,667
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AHI1
Abelson helper integration site 1
involved_in acts_upstream_of_or_within
ISS ISO
(PMID:20592197)
UniProt MGI
PMID:20592197
GO_REF:0000024
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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BBS4
Bardet-Biedl syndrome 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
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CDHR1
cadherin related family member 1
involved_in
IMP
(PMID:23044944)
UniProt
PMID:23044944
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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CNGB1
cyclic nucleotide gated channel subunit beta 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
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CRB1
crumbs cell polarity complex component 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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IFT140
intraflagellar transport 140
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IFT20
intraflagellar transport 20
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:28,328,326...28,335,472
Ensembl chr17:28,328,325...28,335,489
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MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid
acts_upstream_of_or_within
ISS IEA
ARUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
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NPHP1
nephrocystin 1
involved_in
ISO
(PMID:20081859)
UniProt
PMID:20081859
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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NPHP4
nephrocystin 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473
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PCARE
photoreceptor cilium actin regulator
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
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PRPH2
peripherin 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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ROM1
retinal outer segment membrane protein 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
G
RP1
RP1 axonemal microtubule associated
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
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TMEM67
transmembrane protein 67
ISO
RGD
PMID:23516626
RGD:11535084
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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CRX
cone-rod homeobox
ISO
RGD
PMID:16799048
RGD:1600973
NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
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SHH
sonic hedgehog signaling molecule
ISO
RGD
PMID:9236238
RGD:2306313
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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AC004542.3
involved_in
IEA
RNAcentral
GO_REF:0000115
Ensembl chr22:30,973,417...30,973,597
G
AC004542.4
involved_in
IEA
RNAcentral
GO_REF:0000115
Ensembl chr22:30,971,296...30,971,382
G
AC004542.5
involved_in
IEA
RNAcentral
GO_REF:0000115
Ensembl chr22:30,971,005...30,971,149
G
AC004542.6
involved_in
IEA
RNAcentral
GO_REF:0000115
Ensembl chr22:30,972,857...30,973,093
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RAB37
RAB37, member RAS oncogene family
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr17:74,671,131...74,747,335
Ensembl chr17:74,670,578...74,747,335
G
AHI1
Abelson helper integration site 1
involved_in
ISO
(PMID:20081859)
CACAO
PMID:20081859
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
G
CABP4
calcium binding protein 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752
G
CNGA3
cyclic nucleotide gated channel subunit alpha 3
acts_upstream_of_or_within
ISO
(PMID:21052544)
MGI
PMID:21052544
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
G
CRB2
crumbs cell polarity complex component 2
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
G
DIO3
iodothyronine deiodinase 3
acts_upstream_of_or_within
ISO IEA
(PMID:20203194)
MGI Ensembl
PMID:20203194
GO_REF:0000107
NCBI chr14:101,561,495...101,563,452
Ensembl chr14:101,560,139...101,563,452
G
GNAT2
G protein subunit alpha transducin 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
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MIR124-1
microRNA 124-1
acts_upstream_of_or_within
ISO
(PMID:21857657)
MGI
PMID:21857657
NCBI chr 8:9,903,388...9,903,472
Ensembl chr 8:9,903,388...9,903,472
G
MIR124-2
microRNA 124-2
acts_upstream_of_or_within
ISO
(PMID:21857657)
MGI
PMID:21857657
NCBI chr 8:64,379,149...64,379,257
Ensembl chr 8:64,379,149...64,379,257
G
MIR182
microRNA 182
acts_upstream_of_or_within
ISO
(PMID:23341629)
MGI
PMID:23341629
NCBI chr 7:129,770,383...129,770,492
Ensembl chr 7:129,770,383...129,770,492
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MIR183
microRNA 183
acts_upstream_of_or_within
ISO
(PMID:23341629)
MGI
PMID:23341629
NCBI chr 7:129,774,905...129,775,014
Ensembl chr 7:129,774,905...129,775,014
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MIR96
microRNA 96
acts_upstream_of_or_within
ISO
(PMID:23341629)
MGI
PMID:23341629
NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769
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PDE6C
phosphodiesterase 6C
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
G
RORB
RAR related orphan receptor B
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
G
RP1
RP1 axonemal microtubule associated
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
G
THRB
thyroid hormone receptor beta
acts_upstream_of
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
G
THY1
Thy-1 cell surface antigen
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr11:119,415,476...119,424,985
Ensembl chr11:119,415,476...119,424,985
G
USH1C
USH1 protein network component harmonin
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
G
BBS10
Bardet-Biedl syndrome 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
G
GNAT1
G protein subunit alpha transducin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696
G
GNAT2
G protein subunit alpha transducin 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
G
NOTCH1
notch receptor 1
acts_upstream_of
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
G
AHI1
Abelson helper integration site 1
involved_in
ISO
(PMID:20081859)
CACAO
PMID:20081859
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
G
ALMS1
ALMS1 centrosome and basal body associated protein
acts_upstream_of_or_within
ISO
(PMID:16000322)
MGI
PMID:16000322
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
G
BBS4
Bardet-Biedl syndrome 4
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
G
BHLHE23
basic helix-loop-helix family member e23
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr20:63,005,927...63,006,964
Ensembl chr20:63,005,927...63,007,035
G
CFH
complement factor H
acts_upstream_of_or_within
ISO
(PMID:17921253)
MGI
PMID:17921253
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
G
MIAT
myocardial infarction associated transcript
acts_upstream_of_or_within
ISO
(PMID:16877424)
MGI
PMID:16877424
NCBI chr22:26,646,429...26,676,478
Ensembl chr22:26,646,411...26,676,478
G
NAGLU
N-acetyl-alpha-glucosaminidase
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
G
NRL
neural retina leucine zipper
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
G
NTRK2
neurotrophic receptor tyrosine kinase 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
G
RORB
RAR related orphan receptor B
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
G
RP1
RP1 axonemal microtubule associated
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
G
SAMD11
sterile alpha motif domain containing 11
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575
G
SAMD7
sterile alpha motif domain containing 7
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 3:169,911,572...169,939,175
Ensembl chr 3:169,911,572...169,939,175
G
TRPM1
transient receptor potential cation channel subfamily M member 1
acts_upstream_of_or_within
ISO
(PMID:19966281)
MGI
PMID:19966281
NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160
G
BBS10
Bardet-Biedl syndrome 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
G
CNTF
ciliary neurotrophic factor
acts_upstream_of
IEA
Ensembl
GO_REF:0000107
NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733
G
GNAT1
G protein subunit alpha transducin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696
G
GNAT2
G protein subunit alpha transducin 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
G
NDP
norrin cystine knot growth factor NDP
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
G
PTN
pleiotrophin
ISO
RGD
PMID:16914133
RGD:9831439
NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774
G
RORB
RAR related orphan receptor B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
G
SOX8
SRY-box transcription factor 8
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:19490914)
UniProt MGI Ensembl
PMID:19490914
GO_REF:0000024 GO_REF:0000107
NCBI chr16:981,770...986,979
Ensembl chr16:981,444...986,979
G
SOX9
SRY-box transcription factor 9
involved_in acts_upstream_of_or_within
ISS ISO IEA
(PMID:19490914)
UniProt MGI Ensembl
PMID:19490914
GO_REF:0000024 GO_REF:0000107
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
G
STAT3
signal transducer and activator of transcription 3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
G
CASZ1
castor zinc finger 1
acts_upstream_of_or_within
ISO
(PMID:25654255)
MGI
PMID:25654255
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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