Term: | Abnormal retinal morphology |
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Accession: | HP:0000479
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browse the term
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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 |
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ABCA4 |
ATP binding cassette subfamily A member 4 |
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IAGP |
ClinVar Annotator: match by term: Abnormal retinal morphology |
ClinVar |
PMID:10634594 PMID:10958763 PMID:11726554 PMID:12515255 PMID:17562343 PMID:18977788 PMID:19265867 PMID:20220177 PMID:22247458 PMID:24713488 PMID:25741868 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28492532 PMID:29925512 PMID:31964843 PMID:32307445 PMID:32845068 PMID:33302505 PMID:33724725 PMID:33732702 PMID:35260635 PMID:36460718 More...
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NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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ATCAY |
ATCAY kinesin light chain interacting caytaxin |
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IAGP |
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HPO |
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MIM:601238 ORPHA:94122 |
NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082
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CA2 |
carbonic anhydrase 2 |
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IAGP |
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HPO |
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ORPHA:2785 |
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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COL2A1 |
collagen type II alpha 1 chain |
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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
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CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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IAGP |
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HPO |
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MIM:614615 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
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CTNS |
cystinosin, lysosomal cystine transporter |
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IAGP |
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HPO |
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MIM:219750 |
NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
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ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
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HPO |
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MIM:610758 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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FLVCR1 |
FLVCR choline and heme transporter 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormal retinal morphology |
ClinVar |
PMID:25741868 |
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NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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HLA-B |
major histocompatibility complex, class I, B |
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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
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KATNB1 |
katanin regulatory subunit B1 |
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IAGP |
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HPO |
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ORPHA:89844 |
NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
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KRT25 |
keratin 25 |
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IAGP |
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HPO |
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ORPHA:170 |
NCBI chr17:40,748,021...40,755,542
Ensembl chr17:40,748,021...40,755,331
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KRT71 |
keratin 71 |
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IAGP |
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HPO |
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ORPHA:170 |
NCBI chr12:52,543,909...52,553,145
Ensembl chr12:52,543,909...52,553,145
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KRT74 |
keratin 74 |
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IAGP |
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HPO |
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ORPHA:170 |
NCBI chr12:52,565,782...52,573,843
Ensembl chr12:52,565,782...52,573,843
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LIPH |
lipase H |
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IAGP |
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HPO |
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ORPHA:170 |
NCBI chr 3:185,506,262...185,552,588
Ensembl chr 3:185,506,262...185,552,588
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LPAR6 |
lysophosphatidic acid receptor 6 |
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IAGP |
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HPO |
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ORPHA:170 |
NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
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NDE1 |
nudE neurodevelopment protein 1 |
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IAGP |
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HPO |
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ORPHA:89844 |
NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
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OPN1SW |
opsin 1, short wave sensitive |
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IAGP |
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HPO |
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ORPHA:88629 |
NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794
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PDZD7 |
PDZ domain containing 7 |
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IAGP |
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HPO |
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MIM:618003 |
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
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HPO |
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ORPHA:254886 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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PPARGC1A |
PPARG coactivator 1 alpha |
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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
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RELN |
reelin |
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IAGP |
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HPO |
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ORPHA:89844 |
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
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SLC24A2 |
solute carrier family 24 member 2 |
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IAGP |
ClinVar Annotator: match by term: Abnormal retinal morphology |
ClinVar |
PMID:12037007 PMID:25741868 |
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NCBI chr 9:19,507,455...20,307,892
Ensembl chr 9:19,507,452...19,789,037
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TK2 |
thymidine kinase 2 |
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IAGP |
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HPO |
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ORPHA:254886 |
NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
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TYR |
tyrosinase |
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IAGP |
ClinVar Annotator: match by term: Abnormal retinal morphology |
ClinVar |
PMID:1899321 PMID:2903492 PMID:16517127 PMID:20861488 PMID:25216246 PMID:25741868 PMID:27734839 PMID:28492532 PMID:34897530 More...
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NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
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B9D1 |
B9 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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B9D2 |
B9 domain containing 2 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
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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:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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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
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CFH |
complement factor H |
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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
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CSPP1 |
centrosome and spindle pole associated protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
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IAGP |
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HPO |
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ORPHA:5 |
NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
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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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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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ORPHA:464 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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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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ORPHA:564 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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ORPHA:649 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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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
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX10 |
peroxisomal biogenesis factor 10 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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PEX11B |
peroxisomal biogenesis factor 11 beta |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
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PEX12 |
peroxisomal biogenesis factor 12 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
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PEX13 |
peroxisomal biogenesis factor 13 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
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PEX14 |
peroxisomal biogenesis factor 14 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
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PEX16 |
peroxisomal biogenesis factor 16 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
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PEX19 |
peroxisomal biogenesis factor 19 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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PEX26 |
peroxisomal biogenesis factor 26 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
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PEX3 |
peroxisomal biogenesis factor 3 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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POU3F4 |
POU class 3 homeobox 4 |
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IAGP |
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HPO |
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ORPHA:1435 |
NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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RPGRIP1 |
RPGR interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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RPGRIP1L |
RPGRIP1 like |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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TCTN1 |
tectonic family member 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
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TCTN2 |
tectonic family member 2 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
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TCTN3 |
tectonic family member 3 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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TMEM107 |
transmembrane protein 107 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
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TMEM216 |
transmembrane protein 216 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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TMEM231 |
transmembrane protein 231 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
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TMEM237 |
transmembrane protein 237 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TXNDC15 |
thioredoxin domain containing 15 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
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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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ORPHA:827 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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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:827 |
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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ELOVL4 |
ELOVL fatty acid elongase 4 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
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IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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PROM1 |
prominin 1 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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PRPH2 |
peripherin 2 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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RLBP1 |
retinaldehyde binding protein 1 |
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IAGP |
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HPO |
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ORPHA:85128 |
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
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RS1 |
retinoschisin 1 |
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IAGP |
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HPO |
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ORPHA:792 |
NCBI chr X:18,639,688...18,672,108
Ensembl chr X:18,639,688...18,672,108
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ABCA4 |
ATP binding cassette subfamily A member 4 |
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IAGP |
ClinVar Annotator: match by term: Abnormal macular morphology |
ClinVar |
PMID:3002862 PMID:9054934 PMID:10090887 PMID:10612508 PMID:10634594 PMID:10880298 PMID:10958763 PMID:11017087 PMID:11444963 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:15516930 PMID:16400609 PMID:17562343 PMID:18285826 PMID:18977788 PMID:19265867 PMID:20981092 PMID:22247458 PMID:22264887 PMID:23144455 PMID:23695285 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24713488 PMID:25082885 PMID:25097241 PMID:25283059 PMID:25333069 PMID:25741868 PMID:26247787 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28341476 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29162642 PMID:29310964 PMID:29431110 PMID:29555955 PMID:29925512 PMID:30215852 PMID:30609409 PMID:30643219 PMID:30718709 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31816670 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32037395 PMID:32278709 PMID:32307445 PMID:32467599 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32815999 PMID:32845050 PMID:32845068 PMID:32913387 PMID:33706644 PMID:33724725 PMID:33732702 PMID:34426522 PMID:34570182 PMID:34906470 PMID:35076026 PMID:35119454 PMID:35657619 PMID:35753512 PMID:35886001 PMID:36460718 PMID:36672815 More...
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NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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AP3D1 |
adaptor related protein complex 3 subunit delta 1 |
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IAGP |
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HPO |
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ORPHA:54 |
NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:99818 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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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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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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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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COG1 |
component of oligomeric golgi complex 1 |
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IAGP |
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HPO |
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ORPHA:263508 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
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G |
DPM1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
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IAGP |
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HPO |
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MIM:608799 |
NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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G |
EDN3 |
endothelin 3 |
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IAGP |
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HPO |
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ORPHA:897 |
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
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G |
EDNRB |
endothelin receptor type B |
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IAGP |
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HPO |
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ORPHA:897 |
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
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G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
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IAGP |
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HPO |
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ORPHA:1493 |
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
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G |
FZD4 |
frizzled class receptor 4 |
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IAGP |
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HPO |
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ORPHA:90050 |
NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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G |
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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G |
GPR143 |
G protein-coupled receptor 143 |
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IAGP |
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HPO |
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ORPHA:54 |
NCBI chr X:9,725,346...9,778,602
Ensembl chr X:9,725,346...9,786,297
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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
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G |
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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G |
LRAT |
lecithin retinol acyltransferase |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
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G |
LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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ORPHA:90050 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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G |
MITF |
melanocyte inducing transcription factor |
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IAGP |
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HPO |
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ORPHA:897 |
NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
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G |
NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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ORPHA:190 ORPHA:90050 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormal macular morphology |
ClinVar |
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 PMID:33471991 More...
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
OAT |
ornithine aminotransferase |
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IAGP |
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HPO |
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ORPHA:414 |
NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976
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G |
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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G |
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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G |
PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
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IAGP |
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HPO |
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MIM:300868 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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G |
RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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G |
RPGR |
retinitis pigmentosa GTPase regulator |
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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
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G |
SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:607616 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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G |
SOX10 |
SRY-box transcription factor 10 |
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IAGP |
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HPO |
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ORPHA:897 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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G |
SPATA7 |
spermatogenesis associated 7 |
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IAGP |
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HPO |
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ORPHA:364055 |
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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G |
USH2A |
usherin |
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IAGP |
ClinVar Annotator: match by term: Abnormal macular morphology |
ClinVar |
PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 PMID:18273898 PMID:20513143 PMID:21569298 PMID:24033266 PMID:24498627 PMID:24944099 PMID:25575603 PMID:25741868 PMID:26927203 PMID:27460420 PMID:28492532 PMID:30609409 PMID:31429209 PMID:31877679 PMID:31964843 PMID:32531858 PMID:32566994 PMID:33360097 PMID:33749171 PMID:34948090 PMID:35266249 PMID:36460718 PMID:36819107 More...
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NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IAGP |
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HPO |
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ORPHA:1215 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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G |
ABCA4 |
ATP binding cassette subfamily A member 4 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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G |
AGBL5 |
AGBL carboxypeptidase 5 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622
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G |
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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G |
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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G |
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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G |
ARL2BP |
ARF 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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G |
ARL3 |
ARF like GTPase 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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G |
ARL6 |
ARF like GTPase 6 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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G |
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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G |
BEST1 |
bestrophin 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
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G |
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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G |
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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G |
CDHR1 |
cadherin related family member 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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G |
CEP290 |
centrosomal protein 290 |
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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
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G |
CERKL |
CERK like autophagy regulator |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665
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G |
CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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G |
CLCNKB |
chloride voltage-gated channel Kb |
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IAGP |
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HPO |
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MIM:607364 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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G |
CLRN1 |
clarin 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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G |
CNGA1 |
cyclic nucleotide gated channel subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681
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G |
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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G |
CRB1 |
crumbs cell polarity complex component 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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G |
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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G |
CYP27A1 |
cytochrome P450 family 27 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:909 |
NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
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G |
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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G |
DHX38 |
DEAH-box helicase 38 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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G |
DNMT3B |
DNA methyltransferase 3 beta |
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IAGP |
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HPO |
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ORPHA:269 |
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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G |
DUX4 |
double homeobox 4 |
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IAGP |
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HPO |
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ORPHA:269 |
NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942
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G |
DUX4L1 |
double homeobox 4 like 1 (pseudogene) |
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IAGP |
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HPO |
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ORPHA:269 |
NCBI chr 4:190,084,412...190,085,696
Ensembl chr 4:190,084,412...190,085,686
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G |
ETHE1 |
ETHE1 persulfide dioxygenase |
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IAGP |
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HPO |
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MIM:602473 |
NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
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G |
EYS |
eyes shut homolog |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226
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G |
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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G |
FRG1 |
FSHD region gene 1 |
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IAGP |
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HPO |
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ORPHA:269 |
NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202
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G |
FSCN2 |
fascin actin-bundling protein 2, retinal |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
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G |
FZD4 |
frizzled class receptor 4 |
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IAGP |
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HPO |
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ORPHA:90050 |
NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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G |
GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:3205 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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G |
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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G |
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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G |
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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G |
HLA-B |
major histocompatibility complex, class I, B |
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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
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G |
IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945
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G |
IDH3B |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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G |
IFT88 |
intraflagellar transport 88 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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G |
IMPDH1 |
inosine monophosphate dehydrogenase 1 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986
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G |
IMPG1 |
interphotoreceptor matrix proteoglycan 1 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678
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G |
IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575
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G |
KIAA1549 |
KIAA1549 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389
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G |
KIZ |
kizuna centrosomal protein |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622
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G |
KLHL7 |
kelch like family member 7 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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G |
LRAT |
lecithin retinol acyltransferase |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
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G |
LRP5 |
LDL receptor related protein 5 |
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IAGP |
|
HPO |
|
ORPHA:90050 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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G |
MAK |
male germ cell associated kinase |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553
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G |
MERTK |
MER proto-oncogene, tyrosine kinase |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
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IAGP |
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HPO |
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ORPHA:33226 |
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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G |
NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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ORPHA:190 ORPHA:649 ORPHA:90050 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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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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NOD2 |
nucleotide binding oligomerization domain containing 2 |
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IAGP |
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HPO |
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ORPHA:90340 |
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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G |
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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ORPHA:791 |
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
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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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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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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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ORPHA:791 |
NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793
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G |
PDE6B |
phosphodiesterase 6B |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
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PDE6G |
phosphodiesterase 6G |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
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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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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
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PRCD |
photoreceptor disc component |
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IAGP |
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HPO |
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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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ORPHA:791 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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G |
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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G |
PRPF4 |
pre-mRNA splicing tri-snRNP complex factor PRPF4 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009
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G |
PRPF6 |
pre-mRNA processing factor 6 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
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G |
PRPF8 |
pre-mRNA processing factor 8 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
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G |
PRPH2 |
peripherin 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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G |
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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RDH12 |
retinol dehydrogenase 12 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
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G |
REEP6 |
receptor accessory protein 6 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927
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G |
RGR |
retinal G protein coupled receptor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960
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G |
RHO |
rhodopsin |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
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G |
RLBP1 |
retinaldehyde binding protein 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
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G |
ROM1 |
retinal outer segment membrane protein 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
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G |
RP1 |
RP1 axonemal microtubule associated |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
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G |
RP1L1 |
RP1 like 1 |
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IAGP |
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HPO |
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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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G |
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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G |
RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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G |
RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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G |
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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G |
SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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G |
SEMA4A |
semaphorin 4A |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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G |
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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G |
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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IAGP |
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HPO |
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ORPHA:269 |
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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G |
SNRNP200 |
small nuclear ribonucleoprotein U5 subunit 200 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271
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G |
SPATA7 |
spermatogenesis associated 7 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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G |
TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
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G |
TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:247691 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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G |
TTC8 |
tetratricopeptide repeat domain 8 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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G |
TUB |
TUB bipartite transcription factor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
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G |
TULP1 |
TUB like protein 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
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G |
USH2A |
usherin |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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G |
ZNF408 |
zinc finger protein 408 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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G |
ZNF513 |
zinc finger protein 513 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
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BEST1 |
bestrophin 1 |
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IAGP |
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HPO |
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MIM:193220 |
NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
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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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ORPHA:827 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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G |
CACNA1F |
calcium voltage-gated channel subunit alpha1 F |
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IAGP |
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HPO |
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MIM:300476 |
NCBI chr X:49,205,063...49,233,340
Ensembl chr X:49,205,063...49,233,371
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G |
CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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ORPHA:1573 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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G |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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G |
ELOVL4 |
ELOVL fatty acid elongase 4 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
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G |
LOC111365204 |
CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 |
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IAGP |
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HPO |
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MIM:136550 |
NCBI chr 6:99,592,885...99,593,339
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G |
MMACHC |
metabolism of cobalamin associated C |
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IAGP |
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HPO |
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ORPHA:79282 |
NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of macular pigmentation |
ClinVar |
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 PMID:33471991 More...
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
OPN1LW |
opsin 1, long wave sensitive |
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IAGP |
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HPO |
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MIM:303700 |
NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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G |
OPN1MW |
opsin 1, medium wave sensitive |
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IAGP |
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HPO |
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MIM:303700 |
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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G |
PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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MIM:608940 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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G |
PROM1 |
prominin 1 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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G |
PRPH2 |
peripherin 2 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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G |
RD3 |
RD3 regulator of GUCY2D |
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IAGP |
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HPO |
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MIM:610612 |
NCBI chr 1:211,476,522...211,492,162
Ensembl chr 1:211,476,522...211,492,162
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G |
ABCA4 |
ATP binding cassette subfamily A member 4 |
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IAGP |
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HPO |
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ORPHA:1872 ORPHA:791 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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G |
ADAM9 |
ADAM metallopeptidase domain 9 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445
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G |
AGBL5 |
AGBL carboxypeptidase 5 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622
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G |
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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G |
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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G |
AIPL1 |
aryl hydrocarbon receptor interacting protein like 1 |
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IAGP |
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HPO |
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ORPHA:1872 ORPHA:65 |
NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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G |
ALDH1A3 |
aldehyde dehydrogenase 1 family member A3 |
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IAGP |
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HPO |
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ORPHA:35612 |
NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,861,924...100,916,626
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G |
ALDH3A2 |
aldehyde dehydrogenase 3 family member A2 |
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IAGP |
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HPO |
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ORPHA:816 |
NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:873 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
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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G |
ARL2BP |
ARF 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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G |
ARL3 |
ARF like GTPase 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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G |
ARL6 |
ARF like GTPase 6 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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G |
ATF6 |
activating transcription factor 6 |
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IAGP |
|
HPO |
|
ORPHA:1872 |
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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G |
BBS2 |
Bardet-Biedl syndrome 2 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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G |
BEST1 |
bestrophin 1 |
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IAGP |
|
HPO |
|
ORPHA:35612 ORPHA:791 |
NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
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G |
CA4 |
carbonic anhydrase 4 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899
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G |
CABP4 |
calcium binding protein 4 |
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IAGP |
|
HPO |
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ORPHA:215 |
NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752
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G |
CACNA1F |
calcium voltage-gated channel subunit alpha1 F |
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IAGP |
|
HPO |
|
ORPHA:1872 ORPHA:215 |
NCBI chr X:49,205,063...49,233,340
Ensembl chr X:49,205,063...49,233,371
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G |
CACNA2D4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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IAGP |
|
HPO |
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ORPHA:1872 ORPHA:215 |
NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666
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G |
CBS |
cystathionine beta-synthase |
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IAGP |
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HPO |
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ORPHA:394 |
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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G |
CDH3 |
cadherin 3 |
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IAGP |
|
HPO |
|
ORPHA:1897 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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G |
CDHR1 |
cadherin related family member 1 |
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IAGP |
|
HPO |
|
ORPHA:1872 ORPHA:791 |
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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G |
CEP120 |
centrosomal protein 120 |
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IAGP |
|
HPO |
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ORPHA:474 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
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G |
CEP164 |
centrosomal protein 164 |
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IAGP |
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HPO |
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ORPHA:3156 |
NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266
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G |
CEP290 |
centrosomal protein 290 |
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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
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G |
CERKL |
CERK like autophagy regulator |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665
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G |
CFAP410 |
cilia and flagella associated protein 410 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
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G |
CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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ORPHA:1872 ORPHA:791 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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G |
CFH |
complement factor H |
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IAGP |
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HPO |
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ORPHA:75376 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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G |
CFI |
complement factor I |
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IAGP |
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HPO |
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ORPHA:75376 |
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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G |
CHM |
CHM Rab escort protein |
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IAGP |
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HPO |
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ORPHA:180 |
NCBI chr X:85,861,180...86,047,558
Ensembl chr X:85,861,180...86,047,561
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G |
CLDN19 |
claudin 19 |
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IAGP |
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HPO |
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ORPHA:2196 |
NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
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G |
CLRN1 |
clarin 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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G |
CNGA1 |
cyclic nucleotide gated channel subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681
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G |
CNGA3 |
cyclic nucleotide gated channel subunit alpha 3 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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G |
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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G |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:1871 |
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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G |
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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ORPHA:1873 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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G |
COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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G |
CP |
ceruloplasmin |
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IAGP |
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HPO |
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ORPHA:48818 |
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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G |
CRB1 |
crumbs cell polarity complex component 1 |
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IAGP |
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HPO |
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ORPHA:35612 ORPHA:65 ORPHA:791 |
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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G |
CRX |
cone-rod homeobox |
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IAGP |
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HPO |
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ORPHA:1872 ORPHA:65 ORPHA:791 |
NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
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G |
CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:873 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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G |
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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G |
DHX38 |
DEAH-box helicase 38 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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G |
DRAM2 |
DNA damage regulated autophagy modulator 2 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
EDN3 |
endothelin 3 |
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IAGP |
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HPO |
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ORPHA:897 |
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
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G |
EDNRB |
endothelin receptor type B |
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IAGP |
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HPO |
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ORPHA:897 |
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
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G |
EFEMP1 |
EGF containing fibulin extracellular matrix protein 1 |
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IAGP |
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HPO |
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ORPHA:75376 |
NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
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G |
ELMO2 |
engulfment and cell motility 2 |
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IAGP |
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HPO |
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ORPHA:3019 |
NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985
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G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
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IAGP |
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HPO |
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ORPHA:1493 |
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
EYS |
eyes shut homolog |
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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
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G |
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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G |
FLCN |
folliculin |
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IAGP |
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HPO |
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ORPHA:122 |
NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
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G |
FLNB |
filamin B |
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IAGP |
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HPO |
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MIM:272460 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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G |
FSCN2 |
fascin actin-bundling protein 2, retinal |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
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G |
GDF6 |
growth differentiation factor 6 |
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IAGP |
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HPO |
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ORPHA:65 |
NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
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G |
GNAT1 |
G protein subunit alpha transducin 1 |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696
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G |
GNAT2 |
G protein subunit alpha transducin 2 |
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IAGP |
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HPO |
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ORPHA:1871 |
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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G |
GNB3 |
G protein subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393
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G |
GPR179 |
G protein-coupled receptor 179 |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr17:38,324,571...38,343,956
Ensembl chr17:38,324,571...38,343,956
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G |
GRK1 |
G protein-coupled receptor kinase 1 |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736
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G |
GRM6 |
glutamate metabotropic receptor 6 |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr 5:178,978,327...178,995,320
Ensembl chr 5:178,977,587...178,996,206
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G |
GUCA1A |
guanylate cyclase activator 1A |
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IAGP |
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HPO |
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ORPHA:1871 ORPHA:1872 |
NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338
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G |
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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G |
GUCY2D |
guanylate cyclase 2D, retinal |
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IAGP |
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HPO |
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ORPHA:1872 ORPHA:65 |
NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
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G |
HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
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IAGP |
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HPO |
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ORPHA:5 |
NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
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G |
HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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G |
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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G |
HLA-B |
major histocompatibility complex, class I, B |
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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
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G |
IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945
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G |
IDH3B |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
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G |
IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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MIM:309900 ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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ORPHA:474 ORPHA:65 ORPHA:791 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:474 ORPHA:791 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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G |
IFT80 |
intraflagellar transport 80 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
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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G |
IMPDH1 |
inosine monophosphate dehydrogenase 1 |
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IAGP |
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HPO |
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ORPHA:65 ORPHA:791 |
NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986
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G |
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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G |
IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575
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G |
INVS |
inversin |
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IAGP |
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HPO |
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ORPHA:3156 |
NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175
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G |
IQCB1 |
IQ motif containing B1 |
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IAGP |
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HPO |
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ORPHA:3156 ORPHA:65 |
NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
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G |
KCNJ13 |
potassium inwardly rectifying channel subfamily J member 13 |
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IAGP |
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HPO |
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ORPHA:65 |
NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565
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G |
KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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G |
KIAA1549 |
KIAA1549 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389
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G |
KIF11 |
kinesin family member 11 |
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IAGP |
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HPO |
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ORPHA:2526 |
NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
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G |
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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G |
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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G |
LCA5 |
lebercilin LCA5 |
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IAGP |
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HPO |
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ORPHA:364055 ORPHA:65 |
NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
|
ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
LRAT |
lecithin retinol acyltransferase |
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IAGP |
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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
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G |
LRIT3 |
leucine rich repeat, Ig-like and transmembrane domains 3 |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr 4:109,848,107...109,872,315
Ensembl chr 4:109,848,107...109,872,315
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G |
LYST |
lysosomal trafficking regulator |
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IAGP |
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HPO |
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ORPHA:167 |
NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
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G |
MAK |
male germ cell associated kinase |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553
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G |
MC1R |
melanocortin 1 receptor |
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IAGP |
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HPO |
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ORPHA:79432 |
NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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G |
MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
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HPO |
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ORPHA:578 |
NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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G |
MERTK |
MER proto-oncogene, tyrosine kinase |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561
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G |
MFRP |
membrane frizzled-related protein |
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IAGP |
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HPO |
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ORPHA:35612 |
NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
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G |
MITF |
melanocyte inducing transcription factor |
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IAGP |
|
HPO |
|
ORPHA:897 |
NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
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G |
MORC2 |
MORC family CW-type zinc finger 2 |
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IAGP |
|
HPO |
|
ORPHA:466768 |
NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
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G |
MTTP |
microsomal triglyceride transfer protein |
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IAGP |
|
HPO |
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ORPHA:14 |
NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
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G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
|
HPO |
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ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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G |
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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ORPHA:1872 ORPHA:65 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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NPHP1 |
nephrocystin 1 |
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IAGP |
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HPO |
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ORPHA:3156 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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NPHP3 |
nephrocystin 3 |
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IAGP |
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HPO |
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ORPHA:3156 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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NPHP4 |
nephrocystin 4 |
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IAGP |
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HPO |
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ORPHA:3156 |
NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473
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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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ORPHA:791 |
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
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NYX |
nyctalopin |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr X:41,447,343...41,475,652
Ensembl chr X:41,447,343...41,475,710
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OCA2 |
OCA2 melanosomal transmembrane protein |
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IAGP |
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HPO |
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ORPHA:79432 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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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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ORPHA:791 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OPN1LW |
opsin 1, long wave sensitive |
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IAGP |
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HPO |
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ORPHA:16 ORPHA:1872 |
NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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OPN1MW |
opsin 1, medium wave sensitive |
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IAGP |
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HPO |
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ORPHA:16 ORPHA:1872 |
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:35612 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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G |
PAX6 |
paired box 6 |
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IAGP |
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HPO |
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ORPHA:35737 |
NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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PCARE |
photoreceptor cilium actin regulator |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
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PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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ORPHA:65 ORPHA:85167 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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PDE6A |
phosphodiesterase 6A |
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IAGP |
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HPO |
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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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ORPHA:215 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:1871 |
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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ORPHA:791 |
NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
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PEPD |
peptidase D |
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IAGP |
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HPO |
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ORPHA:742 |
NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX10 |
peroxisomal biogenesis factor 10 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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PEX11B |
peroxisomal biogenesis factor 11 beta |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
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PEX12 |
peroxisomal biogenesis factor 12 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
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G |
PEX13 |
peroxisomal biogenesis factor 13 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
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G |
PEX14 |
peroxisomal biogenesis factor 14 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
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G |
PEX16 |
peroxisomal biogenesis factor 16 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
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G |
PEX19 |
peroxisomal biogenesis factor 19 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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G |
PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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G |
PEX26 |
peroxisomal biogenesis factor 26 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
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G |
PEX3 |
peroxisomal biogenesis factor 3 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
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G |
PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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G |
PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PEX7 |
peroxisomal biogenesis factor 7 |
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IAGP |
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HPO |
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ORPHA:773 |
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
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PHF3 |
PHD finger protein 3 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of retinal pigment epithelium |
ClinVar |
PMID:25741868 |
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NCBI chr 6:63,635,802...63,726,011
Ensembl chr 6:63,635,802...63,779,336
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G |
PHYH |
phytanoyl-CoA 2-hydroxylase |
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IAGP |
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HPO |
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ORPHA:773 |
NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
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G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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IAGP |
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HPO |
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MIM:108145 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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G |
PITPNM3 |
PITPNM family member 3 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
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G |
PLK4 |
polo like kinase 4 |
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IAGP |
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HPO |
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ORPHA:2518 |
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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ORPHA:1173 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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G |
POC1B |
POC1 centriolar protein B |
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IAGP |
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HPO |
|
ORPHA:1872 |
NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
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G |
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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G |
PRCD |
photoreceptor disc component |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578
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G |
PRDM10 |
PR/SET domain 10 |
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IAGP |
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HPO |
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ORPHA:122 |
NCBI chr11:129,899,711...130,002,835
Ensembl chr11:129,899,706...130,002,835
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G |
PROM1 |
prominin 1 |
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IAGP |
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HPO |
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ORPHA:1872 ORPHA:791 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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G |
PRPF3 |
pre-mRNA processing factor 3 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233
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G |
PRPF31 |
pre-mRNA processing factor 31 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719
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G |
PRPF4 |
pre-mRNA splicing tri-snRNP complex factor PRPF4 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009
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G |
PRPF6 |
pre-mRNA processing factor 6 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
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G |
PRPF8 |
pre-mRNA processing factor 8 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
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G |
PRPH2 |
peripherin 2 |
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IAGP |
ClinVar Annotator: match by term: Abnormality of retinal pigmentation |
HPO ClinVar |
PMID:8994365 PMID:17504850 PMID:25741868 PMID:28492532 PMID:32531846 PMID:34411390 More...
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ORPHA:1872 ORPHA:791 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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G |
PRSS56 |
serine protease 56 |
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IAGP |
|
HPO |
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ORPHA:35612 |
NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
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G |
RAB18 |
RAB18, member RAS oncogene family |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117
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G |
RAB28 |
RAB28, member RAS oncogene family |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 4:13,367,724...13,484,340
Ensembl chr 4:13,361,354...13,484,365
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G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
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G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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G |
RAX |
retina and anterior neural fold homeobox |
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IAGP |
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HPO |
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ORPHA:35612 |
NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086
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G |
RAX2 |
retina and anterior neural fold homeobox 2 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228
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G |
RBP3 |
retinol binding protein 3 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881
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RD3 |
RD3 regulator of GUCY2D |
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IAGP |
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HPO |
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ORPHA:65 |
NCBI chr 1:211,476,522...211,492,162
Ensembl chr 1:211,476,522...211,492,162
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G |
RDH12 |
retinol dehydrogenase 12 |
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IAGP |
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HPO |
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ORPHA:65 ORPHA:791 |
NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
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REEP6 |
receptor accessory protein 6 |
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IAGP |
|
HPO |
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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 |
|
HPO |
|
ORPHA:791 |
NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960
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G |
RHO |
rhodopsin |
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IAGP |
ClinVar Annotator: match by term: Abnormality of retinal pigmentation |
ClinVar HPO |
PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 PMID:30977563 More...
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ORPHA:215 ORPHA:791 |
NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
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G |
RIMS1 |
regulating synaptic membrane exocytosis 1 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150
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G |
RLBP1 |
retinaldehyde binding protein 1 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
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G |
RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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G |
RNF216 |
ring finger protein 216 |
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IAGP |
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HPO |
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ORPHA:1173 |
NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696
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G |
RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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ORPHA:1824 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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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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ORPHA:791 |
NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
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G |
RP1 |
RP1 axonemal microtubule associated |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
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G |
RP1L1 |
RP1 like 1 |
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IAGP |
|
HPO |
|
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 |
|
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 |
|
ORPHA:791 |
NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405
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G |
RPE65 |
retinoid isomerohydrolase RPE65 |
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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
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
|
HPO |
|
ORPHA:1872 ORPHA:791 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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G |
RPGRIP1 |
RPGR interacting protein 1 |
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IAGP |
|
HPO |
|
ORPHA:1872 ORPHA:65 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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G |
RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
|
HPO |
|
ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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G |
SAG |
S-antigen visual arrestin |
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IAGP |
|
HPO |
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ORPHA:215 ORPHA:791 |
NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055
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G |
SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
|
HPO |
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ORPHA:3156 |
NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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G |
SEMA4A |
semaphorin 4A |
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IAGP |
|
HPO |
|
ORPHA:1872 ORPHA:791 |
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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G |
SIX6 |
SIX homeobox 6 |
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IAGP |
|
HPO |
|
ORPHA:35612 |
NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
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G |
SLC12A6 |
solute carrier family 12 member 6 |
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IAGP |
|
HPO |
|
ORPHA:1496 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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G |
SLC24A1 |
solute carrier family 24 member 1 |
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IAGP |
|
HPO |
|
ORPHA:215 |
NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995
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G |
SLC45A2 |
solute carrier family 45 member 2 |
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IAGP |
|
HPO |
|
ORPHA:79435 |
NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
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G |
SLC7A14 |
solute carrier family 7 member 14 |
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IAGP |
|
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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ORPHA:791 |
NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271
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SOX10 |
SRY-box transcription factor 10 |
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IAGP |
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HPO |
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ORPHA:897 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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G |
SOX2 |
SRY-box transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:35612 |
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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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:65 ORPHA:791 |
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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SUMF1 |
sulfatase modifying factor 1 |
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IAGP |
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HPO |
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ORPHA:585 |
NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273
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TAF2 |
TATA-box binding protein associated factor 2 |
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IAGP |
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HPO |
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ORPHA:397951 |
NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863
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TBC1D20 |
TBC1 domain family member 20 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
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TLCD3B |
TLC domain containing 3B |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978
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TMEM98 |
transmembrane protein 98 |
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IAGP |
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HPO |
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ORPHA:35612 |
NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:2801 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
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HPO |
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ORPHA:2801 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
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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
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TRAF3IP1 |
TRAF3 interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:3156 |
NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
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TRPM1 |
transient receptor potential cation channel subfamily M member 1 |
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IAGP |
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HPO |
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ORPHA:215 |
NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160
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TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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TTC8 |
tetratricopeptide repeat domain 8 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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TTLL5 |
tubulin tyrosine ligase like 5 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079
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TTPA |
alpha tocopherol transfer protein |
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IAGP |
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HPO |
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ORPHA:96 |
NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053
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TUB |
TUB bipartite transcription factor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
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TUBB4B |
tubulin beta 4B class IVb |
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IAGP |
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HPO |
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ORPHA:65 |
NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707
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TUBGCP4 |
tubulin gamma complex component 4 |
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IAGP |
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HPO |
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ORPHA:2518 |
NCBI chr15:43,371,101...43,409,771
Ensembl chr15:43,369,221...43,409,771
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TUBGCP6 |
tubulin gamma complex component 6 |
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IAGP |
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HPO |
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MIM:251270 ORPHA:2518 |
NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023
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TULP1 |
TUB like protein 1 |
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IAGP |
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HPO |
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ORPHA:65 ORPHA:791 |
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
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TYR |
tyrosinase |
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IAGP |
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HPO |
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ORPHA:79434 |
NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
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UNC119 |
unc-119 lipid binding chaperone |
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IAGP |
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HPO |
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ORPHA:1872 |
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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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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ORPHA:65 |
NCBI chr 6:99,432,325...99,517,846
Ensembl chr 6:99,432,325...99,521,728
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VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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ORPHA:505248 |
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:3156 ORPHA:474 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WRN |
WRN RecQ like helicase |
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IAGP |
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HPO |
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ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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ZNF408 |
zinc finger protein 408 |
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IAGP |
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HPO |
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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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ORPHA:791 |
NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
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ATF6 |
activating transcription factor 6 |
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IAGP |
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HPO |
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MIM:616517 ORPHA:49382 |
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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CACNA1F |
calcium voltage-gated channel subunit alpha1 F |
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IAGP |
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HPO |
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MIM:300476 |
NCBI chr X:49,205,063...49,233,340
Ensembl chr X:49,205,063...49,233,371
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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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MIM:216900 ORPHA:49382 |
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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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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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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HPS6 |
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 |
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IAGP |
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HPO |
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MIM:614075 |
NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036
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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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MIM:300424 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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PDE6C |
phosphodiesterase 6C |
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IAGP |
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HPO |
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MIM:613093 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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MIM:613582 |
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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PRPH2 |
peripherin 2 |
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IAGP |
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HPO |
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MIM:169150 ORPHA:52427 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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RBP4 |
retinol binding protein 4 |
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IAGP |
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HPO |
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MIM:615147 |
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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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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RHO |
rhodopsin |
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IAGP |
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HPO |
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ORPHA:52427 |
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 |
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
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RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
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HPO |
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MIM:204100 |
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 |
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HPO |
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ORPHA:49382 |
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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MIM:613826 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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RS1 |
retinoschisin 1 |
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IAGP |
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HPO |
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ORPHA:792 |
NCBI chr X:18,639,688...18,672,108
Ensembl chr X:18,639,688...18,672,108
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G |
TLCD3B |
TLC domain containing 3B |
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IAGP |
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HPO |
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MIM:619531 |
NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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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
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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MIM:615109 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 ORPHA:758 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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IAGP |
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HPO |
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MIM:211900 |
NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201
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GGCX |
gamma-glutamyl carboxylase |
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IAGP |
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HPO |
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MIM:610842 ORPHA:91135 |
NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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MIM:615108 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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MIM:158350 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
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HPO |
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MIM:239000 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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G |
XYLT1 |
xylosyltransferase 1 |
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IAGP |
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HPO |
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MIM:264800 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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G |
XYLT2 |
xylosyltransferase 2 |
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IAGP |
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HPO |
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MIM:264800 |
NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
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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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ORPHA:827 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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G |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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ELOVL4 |
ELOVL fatty acid elongase 4 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
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G |
FOXC1 |
forkhead box C1 |
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IAGP |
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HPO |
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ORPHA:250923 |
NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
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G |
MYO5A |
myosin VA |
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IAGP |
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HPO |
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ORPHA:33445 |
NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
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G |
PAX6 |
paired box 6 |
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IAGP |
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HPO |
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ORPHA:250923 |
NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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G |
PROM1 |
prominin 1 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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G |
PRPH2 |
peripherin 2 |
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IAGP |
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HPO |
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ORPHA:827 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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G |
SLC24A5 |
solute carrier family 24 member 5 |
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IAGP |
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HPO |
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ORPHA:370097 |
NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672
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G |
TRIM44 |
tripartite motif containing 44 |
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IAGP |
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HPO |
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ORPHA:250923 |
NCBI chr11:35,662,775...35,818,007
Ensembl chr11:35,662,775...35,818,007
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G |
ABCA4 |
ATP binding cassette subfamily A member 4 |
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IAGP |
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HPO |
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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
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G |
ADAM9 |
ADAM metallopeptidase domain 9 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445
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G |
AGBL5 |
AGBL carboxypeptidase 5 |
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IAGP |
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HPO |
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MIM: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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G |
AHI1 |
Abelson helper integration site 1 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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G |
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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G |
AIPL1 |
aryl hydrocarbon receptor interacting protein like 1 |
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IAGP |
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HPO |
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MIM:604393 ORPHA:1872 |
NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
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G |
ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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MIM:203800 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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G |
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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G |
ARL2BP |
ARF like GTPase 2 binding protein |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635
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G |
ARL3 |
ARF like GTPase 3 |
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IAGP |
|
HPO |
|
MIM:618173 ORPHA:791 |
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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G |
ARL6 |
ARF like GTPase 6 |
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IAGP |
|
HPO |
|
MIM: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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G |
ARV1 |
ARV1 homolog, fatty acid homeostasis modulator |
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IAGP |
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HPO |
|
MIM:617020 |
NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733
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G |
ATF6 |
activating transcription factor 6 |
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IAGP |
|
HPO |
|
ORPHA:1872 ORPHA:49382 |
NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
|
MIM:209900 ORPHA:791 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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G |
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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BBS5 |
Bardet-Biedl syndrome 5 |
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IAGP |
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HPO |
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MIM:615983 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
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G |
BBS9 |
Bardet-Biedl syndrome 9 |
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IAGP |
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HPO |
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MIM: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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MIM: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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G |
CACNA1F |
calcium voltage-gated channel subunit alpha1 F |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr X:49,205,063...49,233,340
Ensembl chr X:49,205,063...49,233,371
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G |
CACNA2D4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666
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G |
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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G |
CCDC28B |
coiled-coil domain containing 28B |
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IAGP |
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HPO |
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MIM: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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MIM:613660 ORPHA:1872 ORPHA:791 |
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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G |
CERKL |
CERK like autophagy regulator |
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IAGP |
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HPO |
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MIM: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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G |
CFAP410 |
cilia and flagella associated protein 410 |
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IAGP |
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HPO |
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MIM:617547 ORPHA:1872 |
NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
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G |
CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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MIM:614500 ORPHA:1872 ORPHA:791 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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G |
CHM |
CHM Rab escort protein |
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IAGP |
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HPO |
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MIM:303100 |
NCBI chr X:85,861,180...86,047,558
Ensembl chr X:85,861,180...86,047,561
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G |
CLCC1 |
chloride channel CLIC like 1 |
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IAGP |
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HPO |
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MIM: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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MIM: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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G |
CNGA1 |
cyclic nucleotide gated channel subunit alpha 1 |
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IAGP |
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HPO |
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MIM: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:1872 ORPHA:49382 |
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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G |
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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G |
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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G |
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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MIM:217080 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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G |
COL18A1 |
collagen type XVIII alpha 1 chain |
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IAGP |
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HPO |
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MIM:267750 |
NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
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G |
CRB1 |
crumbs cell polarity complex component 1 |
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IAGP |
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HPO |
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MIM: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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G |
CRX |
cone-rod homeobox |
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IAGP |
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HPO |
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ORPHA:1872 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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G |
DHX38 |
DEAH-box helicase 38 |
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IAGP |
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HPO |
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MIM:618220 ORPHA:791 |
NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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G |
DRAM2 |
DNA damage regulated autophagy modulator 2 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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MIM:610965 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
EYS |
eyes shut homolog |
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IAGP |
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HPO |
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MIM: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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G |
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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G |
FGF12 |
fibroblast growth factor 12 |
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IAGP |
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HPO |
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MIM:617166 |
NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
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G |
FLVCR1 |
FLVCR choline and heme transporter 1 |
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IAGP |
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HPO |
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MIM:609033 |
NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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G |
FSCN2 |
fascin actin-bundling protein 2, retinal |
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IAGP |
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HPO |
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MIM:607921 ORPHA:791 |
NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
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G |
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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G |
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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G |
GUCA1A |
guanylate cyclase activator 1A |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338
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G |
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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G |
GUCY2D |
guanylate cyclase 2D, retinal |
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IAGP |
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HPO |
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MIM:204000 MIM:601777 ORPHA:1872 |
NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
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G |
HARS1 |
histidyl-tRNA synthetase 1 |
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IAGP |
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HPO |
|
MIM:614504 |
NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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G |
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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G |
HK1 |
hexokinase 1 |
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IAGP |
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HPO |
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MIM:617460 |
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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G |
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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G |
IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
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IAGP |
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HPO |
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MIM:619007 ORPHA:791 |
NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945
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G |
IDH3B |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
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IAGP |
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HPO |
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MIM:612572 ORPHA:791 |
NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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MIM:266920 MIM:617781 ORPHA:791 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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MIM: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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G |
IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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MIM:617871 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
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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G |
IMPDH1 |
inosine monophosphate dehydrogenase 1 |
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IAGP |
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HPO |
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MIM: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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G |
IMPG1 |
interphotoreceptor matrix proteoglycan 1 |
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IAGP |
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HPO |
|
ORPHA:791 |
NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678
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G |
IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
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IAGP |
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HPO |
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MIM: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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G |
KIAA1549 |
KIAA1549 |
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IAGP |
|
HPO |
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MIM: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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G |
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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G |
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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G |
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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G |
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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G |
MAK |
male germ cell associated kinase |
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IAGP |
|
HPO |
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MIM: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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G |
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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G |
MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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MIM:615990 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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G |
MVK |
mevalonate kinase |
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IAGP |
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HPO |
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MIM:610377 |
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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G |
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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G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
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IAGP |
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HPO |
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MIM:608553 MIM:619260 ORPHA:1872 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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G |
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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G |
NRL |
neural retina leucine zipper |
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IAGP |
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HPO |
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MIM:613750 ORPHA:791 |
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
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G |
NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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IAGP |
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HPO |
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MIM:617082 |
NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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MIM: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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G |
OPN1LW |
opsin 1, long wave sensitive |
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IAGP |
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HPO |
|
ORPHA:1872 |
NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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G |
OPN1MW |
opsin 1, medium wave sensitive |
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IAGP |
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HPO |
|
ORPHA:1872 |
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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G |
PCARE |
photoreceptor cilium actin regulator |
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IAGP |
|
HPO |
|
MIM: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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G |
PDE6A |
phosphodiesterase 6A |
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IAGP |
|
HPO |
|
MIM: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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G |
PDE6B |
phosphodiesterase 6B |
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IAGP |
|
HPO |
|
MIM:613801 ORPHA:791 |
NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
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G |
PDE6C |
phosphodiesterase 6C |
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IAGP |
|
HPO |
|
ORPHA:49382 |
NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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G |
PDE6G |
phosphodiesterase 6G |
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IAGP |
|
HPO |
|
MIM:613582 ORPHA:791 |
NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
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G |
PDE6H |
phosphodiesterase 6H |
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IAGP |
|
HPO |
|
ORPHA:49382 |
NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
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G |
PITPNM3 |
PITPNM family member 3 |
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IAGP |
|
HPO |
|
ORPHA:1872 |
NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
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G |
POC1B |
POC1 centriolar protein B |
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IAGP |
|
HPO |
|
ORPHA:1872 |
NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
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G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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G |
PRCD |
photoreceptor disc component |
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IAGP |
|
HPO |
|
MIM:610599 ORPHA:791 |
NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578
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G |
PROM1 |
prominin 1 |
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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
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G |
PRPF3 |
pre-mRNA processing factor 3 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233
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G |
PRPF31 |
pre-mRNA processing factor 31 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719
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G |
PRPF4 |
pre-mRNA splicing tri-snRNP complex factor PRPF4 |
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IAGP |
|
HPO |
|
MIM: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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G |
PRPF6 |
pre-mRNA processing factor 6 |
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IAGP |
|
HPO |
|
MIM:613983 ORPHA:791 |
NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
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G |
PRPF8 |
pre-mRNA processing factor 8 |
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IAGP |
|
HPO |
|
MIM:600059 ORPHA:791 |
NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
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G |
PRPH2 |
peripherin 2 |
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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
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G |
RAB28 |
RAB28, member RAS oncogene family |
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IAGP |
|
HPO |
|
ORPHA:1872 |
NCBI chr 4:13,367,724...13,484,340
Ensembl chr 4:13,361,354...13,484,365
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G |
RAX2 |
retina and anterior neural fold homeobox 2 |
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IAGP |
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HPO |
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MIM:620102 ORPHA:1872 |
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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MIM: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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MIM: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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MIM: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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MIM: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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MIM: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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RIMS1 |
regulating synaptic membrane exocytosis 1 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150
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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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MIM: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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MIM: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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MIM: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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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
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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: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
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RPGRIP1 |
RPGR interacting protein 1 |
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IAGP |
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HPO |
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MIM:608194 MIM:613826 ORPHA:1872 |
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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MIM: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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MIM:610283 ORPHA:1872 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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MIM: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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MIM: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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MIM: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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MIM: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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MIM:619531 ORPHA:1872 |
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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MIM: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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MIM: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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MIM:613464 ORPHA:791 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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TTLL5 |
tubulin tyrosine ligase like 5 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079
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TUB |
TUB bipartite transcription factor |
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IAGP |
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HPO |
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MIM: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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MIM: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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MIM:620342 ORPHA:1872 |
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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MIM: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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MIM: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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MIM: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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MIM: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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MIM: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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CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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MIM:614500 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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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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MIM:601718 ORPHA:1872 ORPHA:791 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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ADAM9 |
ADAM metallopeptidase domain 9 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445
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AGBL5 |
AGBL carboxypeptidase 5 |
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IAGP |
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HPO |
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MIM: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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ORPHA:1872 |
NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
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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 |
ARF 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 |
ARF like GTPase 3 |
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IAGP |
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HPO |
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MIM:618173 ORPHA:791 |
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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ARL6 |
ARF like GTPase 6 |
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IAGP |
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HPO |
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MIM: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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ARSG |
arylsulfatase G |
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IAGP |
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HPO |
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MIM:618144 |
NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
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ATF6 |
activating transcription factor 6 |
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IAGP |
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HPO |
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ORPHA:1872 |
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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MIM:209900 ORPHA:791 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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G |
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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BBS5 |
Bardet-Biedl syndrome 5 |
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IAGP |
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HPO |
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MIM:615983 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
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G |
BBS9 |
Bardet-Biedl syndrome 9 |
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IAGP |
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HPO |
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MIM: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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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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CACNA1F |
calcium voltage-gated channel subunit alpha1 F |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr X:49,205,063...49,233,340
Ensembl chr X:49,205,063...49,233,371
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G |
CACNA2D4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666
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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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MIM: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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ORPHA:1872 ORPHA:791 |
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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CERKL |
CERK like autophagy regulator |
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IAGP |
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HPO |
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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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MIM:617547 ORPHA:1872 |
NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
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G |
CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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MIM:614500 ORPHA:1872 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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MIM:303100 |
NCBI chr X:85,861,180...86,047,558
Ensembl chr X:85,861,180...86,047,561
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G |
CLCC1 |
chloride channel CLIC like 1 |
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IAGP |
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HPO |
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MIM:609913 |
NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
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G |
CLRN1 |
clarin 1 |
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IAGP |
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HPO |
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MIM: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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G |
CNGA1 |
cyclic nucleotide gated channel subunit alpha 1 |
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IAGP |
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HPO |
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MIM: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:1872 |
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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MIM:613767 ORPHA:791 |
NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
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G |
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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MIM:217080 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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G |
CRB1 |
crumbs cell polarity complex component 1 |
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IAGP |
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HPO |
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MIM:172870 MIM: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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G |
CRX |
cone-rod homeobox |
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IAGP |
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HPO |
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MIM:120970 ORPHA:1872 ORPHA:791 |
NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
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G |
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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G |
DHX38 |
DEAH-box helicase 38 |
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IAGP |
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HPO |
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MIM:618220 ORPHA:791 |
NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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G |
DRAM2 |
DNA damage regulated autophagy modulator 2 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203
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G |
EYS |
eyes shut homolog |
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IAGP |
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HPO |
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MIM: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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G |
FAM161A |
FAM161 centrosomal protein A |
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IAGP |
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HPO |
|
MIM:606068 ORPHA:791 |
NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143
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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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MIM:609033 ORPHA:88628 |
NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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G |
FSCN2 |
fascin actin-bundling protein 2, retinal |
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IAGP |
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HPO |
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MIM:607921 ORPHA:791 |
NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
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G |
GRM6 |
glutamate metabotropic receptor 6 |
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IAGP |
|
HPO |
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MIM:257270 |
NCBI chr 5:178,978,327...178,995,320
Ensembl chr 5:178,977,587...178,996,206
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G |
GUCA1A |
guanylate cyclase activator 1A |
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IAGP |
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HPO |
|
ORPHA:1872 |
NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338
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G |
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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G |
GUCY2D |
guanylate cyclase 2D, retinal |
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IAGP |
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HPO |
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MIM:601777 ORPHA:1872 |
NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
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G |
HGSNAT |
heparan-alpha-glucosaminide N-acetyltransferase |
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IAGP |
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HPO |
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MIM:616544 ORPHA:791 |
NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
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G |
HK1 |
hexokinase 1 |
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IAGP |
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HPO |
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MIM:617460 |
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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G |
IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
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IAGP |
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HPO |
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MIM: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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ORPHA:791 |
NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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MIM:617781 ORPHA:791 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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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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MIM:617871 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
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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G |
IMPDH1 |
inosine monophosphate dehydrogenase 1 |
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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
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G |
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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G |
IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
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IAGP |
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HPO |
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MIM: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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G |
KIAA1549 |
KIAA1549 |
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IAGP |
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HPO |
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MIM: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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G |
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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G |
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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G |
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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G |
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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G |
LZTFL1 |
leucine zipper transcription factor like 1 |
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IAGP |
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HPO |
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MIM:615994 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
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MAK |
male germ cell associated kinase |
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IAGP |
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HPO |
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MIM: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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G |
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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G |
MFRP |
membrane frizzled-related protein |
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IAGP |
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HPO |
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MIM:611040 |
NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
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G |
MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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MIM:615990 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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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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MIM:608553 ORPHA:1872 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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G |
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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MIM:613750 ORPHA:791 |
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
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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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ORPHA:791 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
OPN1LW |
opsin 1, long wave sensitive |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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G |
OPN1MW |
opsin 1, medium wave sensitive |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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G |
PCARE |
photoreceptor cilium actin regulator |
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IAGP |
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HPO |
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MIM: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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G |
PDE6A |
phosphodiesterase 6A |
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IAGP |
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HPO |
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MIM: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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G |
PDE6B |
phosphodiesterase 6B |
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IAGP |
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HPO |
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MIM:613801 ORPHA:791 |
NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
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G |
PDE6G |
phosphodiesterase 6G |
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IAGP |
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HPO |
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MIM:613582 ORPHA:791 |
NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
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G |
PISD |
phosphatidylserine decarboxylase |
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IAGP |
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HPO |
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MIM:618889 |
NCBI chr22:31,618,491...31,662,564
Ensembl chr22:31,618,491...31,662,221
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G |
PITPNM3 |
PITPNM family member 3 |
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IAGP |
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HPO |
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ORPHA:1872 |
NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
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G |
POC1B |
POC1 centriolar protein B |
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IAGP |
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HPO |
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MIM:615973 ORPHA:1872 |
NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
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G |
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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MIM:617123 ORPHA:791 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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G |
PRCD |
photoreceptor disc component |
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IAGP |
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HPO |
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MIM:610599 ORPHA:791 |
NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578
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G |
PROM1 |
prominin 1 |
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IAGP |
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HPO |
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MIM:612095 ORPHA:1872 ORPHA:791 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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