Term: | Attenuation of retinal blood vessels |
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Accession: | HP:0007843
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browse the term
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Synonyms: | exact_synonym: | Narrowing of blood vessels in back of eye |
| xref: | UMLS:C3278975 |
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ABCA4 |
ATP binding cassette subfamily A member 4 |
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IAGP |
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HPO |
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OMIM:601718 OMIM:604116 ORPHA:791 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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AGBL5 |
AGBL carboxypeptidase 5 |
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IAGP |
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HPO |
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OMIM:617023 ORPHA:791 |
NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622
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AHI1 |
Abelson helper integration site 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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AHR |
aryl hydrocarbon receptor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AIPL1 |
aryl hydrocarbon receptor interacting protein like 1 |
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IAGP |
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HPO |
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OMIM:604393 |
NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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OMIM:203800 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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ARHGEF18 |
Rho/Rac guanine nucleotide exchange factor 18 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485
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ARL2BP |
ADP ribosylation factor like GTPase 2 binding protein |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635
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ARL3 |
ADP ribosylation factor like GTPase 3 |
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IAGP |
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HPO |
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OMIM:618173 ORPHA:791 |
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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ARL6 |
ADP ribosylation factor like GTPase 6 |
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IAGP |
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HPO |
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OMIM:209900 ORPHA:791 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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ARV1 |
ARV1 homolog, fatty acid homeostasis modulator |
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IAGP |
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HPO |
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OMIM:617020 |
NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733
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ATF6 |
activating transcription factor 6 |
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IAGP |
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HPO |
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ORPHA:49382 |
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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OMIM:209900 ORPHA:791 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BBS2 |
Bardet-Biedl syndrome 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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BBS9 |
Bardet-Biedl syndrome 9 |
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IAGP |
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HPO |
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OMIM:615986 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
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BEST1 |
bestrophin 1 |
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IAGP |
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HPO |
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OMIM:613194 ORPHA:791 |
NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
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CA4 |
carbonic anhydrase 4 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899
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CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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CCDC28B |
coiled-coil domain containing 28B |
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IAGP |
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HPO |
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OMIM:209900 |
NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
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CDHR1 |
cadherin related family member 1 |
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IAGP |
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HPO |
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OMIM:613660 ORPHA:791 |
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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CERKL |
ceramide kinase like |
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IAGP |
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HPO |
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OMIM:608380 ORPHA:791 |
NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665
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CFAP410 |
cilia and flagella associated protein 410 |
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IAGP |
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HPO |
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OMIM:617547 |
NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
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CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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OMIM:614500 ORPHA:791 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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CHM |
CHM Rab escort protein |
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IAGP |
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HPO |
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OMIM:303100 |
NCBI chr X:85,861,180...86,047,558
Ensembl chr X:85,861,180...86,047,561
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CLCC1 |
chloride channel CLIC like 1 |
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IAGP |
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HPO |
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OMIM:609913 |
NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
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CLRN1 |
clarin 1 |
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IAGP |
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HPO |
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OMIM:614180 ORPHA:791 |
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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CNGA1 |
cyclic nucleotide gated channel subunit alpha 1 |
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IAGP |
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HPO |
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OMIM:613756 ORPHA:791 |
NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681
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CNGA3 |
cyclic nucleotide gated channel subunit alpha 3 |
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IAGP |
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HPO |
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ORPHA:49382 |
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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CNGB1 |
cyclic nucleotide gated channel subunit beta 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
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CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:49382 |
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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IAGP |
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HPO |
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OMIM:217080 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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COL18A1 |
collagen type XVIII alpha 1 chain |
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IAGP |
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HPO |
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OMIM:267750 |
NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
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CRB1 |
crumbs cell polarity complex component 1 |
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IAGP |
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HPO |
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OMIM:600105 ORPHA:791 |
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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CRX |
cone-rod homeobox |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
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DHDDS |
dehydrodolichyl diphosphate synthase subunit |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
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DHX38 |
DEAH-box helicase 38 |
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IAGP |
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HPO |
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OMIM:618220 ORPHA:791 |
NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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OMIM:610965 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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EYS |
eyes shut homolog |
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IAGP |
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HPO |
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OMIM:602772 ORPHA:791 |
NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226
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FAM161A |
FAM161 centrosomal protein A |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143
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FGF12 |
fibroblast growth factor 12 |
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IAGP |
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HPO |
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OMIM:617166 |
NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
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FLVCR1 |
FLVCR choline and heme transporter 1 |
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IAGP |
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HPO |
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OMIM:609033 |
NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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FSCN2 |
fascin actin-bundling protein 2, retinal |
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IAGP |
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HPO |
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OMIM:607921 ORPHA:791 |
NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
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GGCX |
gamma-glutamyl carboxylase |
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IAGP |
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HPO |
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ORPHA:436274 |
NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
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GNAT2 |
G protein subunit alpha transducin 2 |
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IAGP |
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HPO |
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ORPHA:49382 |
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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GUCA1B |
guanylate cyclase activator 1B |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:42,183,284...42,194,956
Ensembl chr 6:42,183,284...42,194,956
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GUCY2D |
guanylate cyclase 2D, retinal |
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IAGP |
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HPO |
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OMIM:204000 OMIM:601777 |
NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
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HARS1 |
histidyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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OMIM:614504 |
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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HGSNAT |
heparan-alpha-glucosaminide N-acetyltransferase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
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HK1 |
hexokinase 1 |
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IAGP |
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HPO |
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OMIM:617460 |
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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HLA-A |
major histocompatibility complex, class I, A |
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IAGP |
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HPO |
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ORPHA:179 |
NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
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IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
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IAGP |
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HPO |
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OMIM:619007 ORPHA:791 |
NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945
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IDH3B |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
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IAGP |
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HPO |
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OMIM:612572 ORPHA:791 |
NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,395...2,664,219
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IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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OMIM:266920 OMIM:617781 ORPHA:791 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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OMIM:616394 ORPHA:791 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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OMIM:617871 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IFT88 |
intraflagellar transport 88 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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IMPDH1 |
inosine monophosphate dehydrogenase 1 |
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IAGP |
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HPO |
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OMIM:180105 ORPHA:791 |
NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986
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IMPG1 |
interphotoreceptor matrix proteoglycan 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678
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IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
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IAGP |
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HPO |
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OMIM:613581 ORPHA:791 |
NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575
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KIAA1549 |
KIAA1549 |
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IAGP |
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HPO |
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OMIM:618613 ORPHA:791 |
NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389
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KIZ |
kizuna centrosomal protein |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622
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KLHL7 |
kelch like family member 7 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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LCA5 |
lebercilin LCA5 |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
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LRAT |
lecithin retinol acyltransferase |
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IAGP |
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HPO |
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ORPHA:364055 ORPHA:791 |
NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
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MAK |
male germ cell associated kinase |
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IAGP |
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HPO |
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OMIM:614181 ORPHA:791 |
NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553
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MERTK |
MER proto-oncogene, tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561
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MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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OMIM:615990 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MVK |
mevalonate kinase |
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IAGP |
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HPO |
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OMIM:610377 |
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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NEK2 |
NIMA related kinase 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630
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NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
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IAGP |
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HPO |
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OMIM:608553 OMIM:619260 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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NR2E3 |
nuclear receptor subfamily 2 group E member 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259
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NRL |
neural retina leucine zipper |
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IAGP |
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HPO |
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OMIM:613750 ORPHA:791 |
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
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NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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IAGP |
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HPO |
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OMIM:617082 |
NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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OMIM:300424 ORPHA:791 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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PCARE |
photoreceptor cilium actin regulator |
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IAGP |
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HPO |
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OMIM:613428 ORPHA:791 |
NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
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PDE6A |
phosphodiesterase 6A |
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IAGP |
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HPO |
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OMIM:613810 ORPHA:791 |
NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793
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PDE6B |
phosphodiesterase 6B |
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IAGP |
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HPO |
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OMIM:613801 ORPHA:791 |
NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
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PDE6C |
phosphodiesterase 6C |
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IAGP |
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HPO |
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ORPHA:49382 |
NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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PDE6G |
phosphodiesterase 6G |
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IAGP |
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HPO |
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OMIM:613582 ORPHA:791 |
NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
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PDE6H |
phosphodiesterase 6H |
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IAGP |
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HPO |
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ORPHA:49382 |
NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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PRCD |
photoreceptor disc component |
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IAGP |
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HPO |
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OMIM:610599 ORPHA:791 |
NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578
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PROM1 |
prominin 1 |
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IAGP |
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HPO |
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OMIM:612095 ORPHA:791 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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PRPF3 |
pre-mRNA processing factor 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233
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PRPF31 |
pre-mRNA processing factor 31 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719
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PRPF4 |
pre-mRNA splicing tri-snRNP complex factor PRPF4 |
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IAGP |
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HPO |
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OMIM:615922 ORPHA:791 |
NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009
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PRPF6 |
pre-mRNA processing factor 6 |
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IAGP |
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HPO |
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OMIM:613983 ORPHA:791 |
NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
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PRPF8 |
pre-mRNA processing factor 8 |
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IAGP |
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HPO |
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OMIM:600059 ORPHA:791 |
NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
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PRPH2 |
peripherin 2 |
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IAGP |
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HPO |
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OMIM:608133 ORPHA:52427 ORPHA:791 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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RAX2 |
retina and anterior neural fold homeobox 2 |
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IAGP |
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HPO |
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OMIM:620102 |
NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228
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RBP3 |
retinol binding protein 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881
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RDH11 |
retinol dehydrogenase 11 |
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IAGP |
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HPO |
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OMIM:616108 |
NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793
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RDH12 |
retinol dehydrogenase 12 |
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IAGP |
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HPO |
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OMIM:612712 ORPHA:791 |
NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
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RDH5 |
retinol dehydrogenase 5 |
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IAGP |
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HPO |
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ORPHA:52427 |
NCBI chr12:55,720,393...55,724,705
Ensembl chr12:55,720,367...55,724,705
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REEP6 |
receptor accessory protein 6 |
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IAGP |
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HPO |
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OMIM:617304 ORPHA:791 |
NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927
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RGR |
retinal G protein coupled receptor |
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IAGP |
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HPO |
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OMIM:613769 ORPHA:791 |
NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960
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RHO |
rhodopsin |
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IAGP |
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HPO |
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OMIM:613731 ORPHA:52427 ORPHA:791 |
NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
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RLBP1 |
retinaldehyde binding protein 1 |
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IAGP |
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HPO |
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ORPHA:52427 ORPHA:791 |
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
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ROM1 |
retinal outer segment membrane protein 1 |
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IAGP |
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HPO |
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OMIM:608133 ORPHA:791 |
NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
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RP1 |
RP1 axonemal microtubule associated |
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IAGP |
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HPO |
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OMIM:180100 ORPHA:791 |
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 |
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IAGP |
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HPO |
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OMIM:618826 ORPHA:791 |
NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187
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RP2 |
RP2 activator of ARL3 GTPase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr X:46,837,043...46,882,358
Ensembl chr X:46,837,043...46,882,358
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RP9 |
RP9 pre-mRNA splicing factor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405
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RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
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HPO |
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OMIM:204100 OMIM:613794 ORPHA:364055 ORPHA:791 |
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 |
HPO RGD |
PMID:20021257 |
ORPHA:49382 ORPHA:791, RGD:8553233 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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RPGRIP1 |
RPGR interacting protein 1 |
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IAGP |
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HPO |
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OMIM:613826 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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RTTN |
rotatin |
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IAGP |
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HPO |
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ORPHA:468631 |
NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
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SAG |
S-antigen visual arrestin |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055
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SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
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HPO |
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OMIM:618195 ORPHA:791 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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SEMA4A |
semaphorin 4A |
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IAGP |
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HPO |
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OMIM:610283 ORPHA:791 |
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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SLC24A1 |
solute carrier family 24 member 1 |
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IAGP |
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HPO |
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OMIM:613830 |
NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995
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SLC6A6 |
solute carrier family 6 member 6 |
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IAGP |
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HPO |
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OMIM:145350 |
NCBI chr 3:14,402,576...14,489,349
Ensembl chr 3:14,402,576...14,489,349
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SLC7A14 |
solute carrier family 7 member 14 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075
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SNRNP200 |
small nuclear ribonucleoprotein U5 subunit 200 |
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IAGP |
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HPO |
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OMIM:610359 ORPHA:791 |
NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271
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SPATA7 |
spermatogenesis associated 7 |
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IAGP |
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HPO |
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ORPHA:364055 ORPHA:791 |
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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SSBP1 |
single stranded DNA binding protein 1 |
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IAGP |
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HPO |
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OMIM:165510 |
NCBI chr 7:141,738,321...141,750,488
Ensembl chr 7:141,738,334...141,787,922
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TLCD3B |
TLC domain containing 3B |
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IAGP |
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HPO |
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OMIM:619531 |
NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978
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TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
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IAGP |
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HPO |
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OMIM:609923 ORPHA:791 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
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TRNT1 |
tRNA nucleotidyl transferase 1 |
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IAGP |
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HPO |
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OMIM:616959 |
NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435
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TTC8 |
tetratricopeptide repeat domain 8 |
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IAGP |
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HPO |
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OMIM:613464 ORPHA:791 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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TUB |
TUB bipartite transcription factor |
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IAGP |
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HPO |
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OMIM:616188 ORPHA:791 |
NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
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TULP1 |
TUB like protein 1 |
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IAGP |
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HPO |
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OMIM:613843 ORPHA:791 |
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
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UNC119 |
unc-119 lipid binding chaperone |
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IAGP |
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HPO |
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OMIM:620342 |
NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
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USH2A |
usherin |
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IAGP |
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HPO |
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OMIM:613809 ORPHA:791 |
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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USP45 |
ubiquitin specific peptidase 45 |
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IAGP |
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HPO |
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OMIM:618513 |
NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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OMIM:614376 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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ZNF408 |
zinc finger protein 408 |
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IAGP |
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HPO |
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OMIM:616469 ORPHA:791 |
NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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ZNF513 |
zinc finger protein 513 |
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IAGP |
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HPO |
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OMIM:613617 ORPHA:791 |
NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
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Term paths to the root
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