eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cone rod dystrophy | ||||
| Disease ID | 46 |
|---|---|
| Disease | cone rod dystrophy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:22) C0271051 | macular edema | 13 C0024440 | cystoid macular edema | 12 C0456909 | vision loss | 12 C0456909 | blindness | 9 C1998028 | photoreceptor degeneration | 6 C0024441 | macular hole | 5 C0013604 | oedema | 4 C0035304 | retinal degeneration | 4 C1384666 | hearing loss | 4 C0028077 | night blindness | 3 C0086543 | cataract | 3 C0024440 | cystoid macular oedema | 2 C0031538 | phimosis | 1 C1282209 | choroidal neovascular membrane | 1 C0034951 | refractive errors | 1 C0017601 | glaucoma | 1 C1321313 | astrocytic hamartoma | 1 C0730328 | central serous chorioretinopathy | 1 C0036454 | visual field loss | 1 C0456909 | loss of vision | 1 C1384666 | hearing impairment | 1 C0854723 | retinal dystrophy | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| RP1 | c.4941dupT | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:178) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893768 | 25697536 | 6010 | RHO | umls:C0035334 | BeFree | To find an optimal pharmacological treatment for rhodopsin-associated retinitis pigmentosa, we performed two cell-based HTSs with mammalian cells expressing the P23H rod opsin mutant and identified two sets of novel compounds for further validation and characterization. | 0.464557081 | 2015 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 1418997 | 6010 | RHO | umls:C0035334 | BeFree | We inserted into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene. | 0.464557081 | 1992 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 17715341 | 6010 | RHO | umls:C0035334 | BeFree | To elucidate the molecular mechanisms underlying the light-sensitive retinal degeneration caused by the rhodopsin mutation P23H, which causes retinitis pigmentosa (RP) in humans, we expressed Xenopus laevis, bovine, human, and murine forms of P23H rhodopsin in transgenic X. laevis rod photoreceptors. | 0.464557081 | 2007 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 19325938 | 6010 | RHO | umls:C0035334 | BeFree | Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation. | 0.464557081 | 2009 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 20805032 | 6010 | RHO | umls:C0035334 | BeFree | Retinobenzaldehydes as proper-trafficking inducers of folding-defective P23H rhodopsin mutant responsible for retinitis pigmentosa. | 0.464557081 | 2010 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 15126168 | 10594 | PRPF8 | umls:C0035334 | BeFree | Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. | 0.132797494 | 2004 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 15126168 | 6010 | RHO | umls:C0035334 | BeFree | Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. | 0.464557081 | 2004 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 12140048 | 6010 | RHO | umls:C0035334 | BeFree | Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. | 0.464557081 | 2002 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 7601641 | 6010 | RHO | umls:C0035334 | BeFree | Patients with retinitis pigmentosa and the pro-23-his rhodopsin mutation had a decrease in the gain of activation. | 0.464557081 | 1995 | RHO | 3 | 129528801 | C | A |
| rs104893769 | 25637522 | 6010 | RHO | umls:C0035334 | BeFree | We observed similar vacuolization in outer segments of transgenic mice expressing human rhodopsin with a T17M mutation (hT17M), suggesting that the mechanism responsible for the degenerative process in mice expressing the non-glycosylated rhodopsin and the RHO(hT17M) mice is likely the cause of phenotype observed in retinitis pigmentosa patients carrying T17M mutation. | 0.464557081 | 2015 | RHO | 3 | 129528783 | C | T |
| rs104893769 | 25274813 | 6010 | RHO | umls:C0035334 | BeFree | Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa. | 0.464557081 | 2015 | RHO | 3 | 129528783 | C | T |
| rs104893769 | 24573320 | 6010 | RHO | umls:C0035334 | BeFree | Retinitis pigmentosa‑associated rhodopsin mutant T17M induces endoplasmic reticulum (ER) stress and sensitizes cells to ER stress-induced cell death. | 0.464557081 | 2014 | RHO | 3 | 129528783 | C | T |
| rs104893773 | 11094174 | 6010 | RHO | umls:C0035334 | BeFree | The Gly106Arg mutation of the rhodopsin gene has been found in Japanese patients with sectorial retinitis pigmentosa. | 0.464557081 | 2000 | RHO | 3 | 129529049 | G | A,T |
| rs104893774 | 15548806 | 6010 | RHO | umls:C0035334 | BeFree | Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa. | 0.464557081 | 2004 | RHO | 3 | 129530918 | G | A,T |
| rs104893775 | NA | 6010 | RHO | umls:C0035334 | CLINVAR | NA | 0.464557081 | NA | RHO | 3 | 129530917 | C | T |
| rs104893779 | 19085385 | 6010 | RHO | umls:C0035334 | BeFree | To phenotype a family with RHO (Asp190Asn or D190N) dominantly inherited retinitis pigmentosa (RP) and to describe an approach to surveying affected families. | 0.464557081 | 2008 | RHO | 3 | 129532288 | G | A,T |
| rs104893779 | 23625926 | 6010 | RHO | umls:C0035334 | BeFree | Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants. | 0.464557081 | 2013 | RHO | 3 | 129532288 | G | A,T |
| rs104893781 | 9228242 | 6010 | RHO | umls:C0035334 | BeFree | Our results suggest that the Pro-267-Leu rhodopsin mutation is associated with a very mild phenotype of retinitis pigmentosa. | 0.464557081 | 1997 | RHO | 3 | 129532636 | C | T |
| rs104893786 | NA | 6010 | RHO | umls:C0035334 | CLINVAR | NA | 0.464557081 | NA | RHO | 3 | 129528777 | A | G |
| rs104894082 | 12882812 | 6101 | RP1 | umls:C0035334 | BeFree | De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. | 0.271362619 | 2003 | RP1 | 8 | 54625911 | C | T |
| rs104894373 | 11078852 | 5959 | RDH5 | umls:C0035334 | BeFree | His mother had the Arg280His mutation and his father had the Val177Gly mutation, but his father's aunt who has typical retinitis pigmentosa had the wild type RDH5 gene. | 0.003810118 | 2000 | RDH5;BLOC1S1-RDH5 | 12 | 55721908 | T | G |
| rs104894459 | 12796249 | 4901 | NRL | umls:C0035334 | BeFree | Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. | 0.369087065 | 2003 | NRL | 14 | 24082701 | A | T |
| rs104894470 | 17389517 | 145226 | RDH12 | umls:C0035334 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.36617715 | 2007 | RDH12 | 14 | 67727097 | C | T |
| rs104894474 | 17389517 | 145226 | RDH12 | umls:C0035334 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.36617715 | 2007 | RDH12 | 14 | 67726086 | G | T |
| rs104894475 | 17389517 | 145226 | RDH12 | umls:C0035334 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.36617715 | 2007 | RDH12 | 14 | 67726983 | C | A,G |
| rs104894559 | 15295099 | 762 | CA4 | umls:C0035334 | BeFree | In collaboration with scientists at the University of Cape Town (Rondebosch, South Africa), we recently showed that the R14W mutation in the signal sequence of CA IV, which they identified in patients with the retinitis pigmentosa (RP) 17 form of autosomal dominant RP, results in accumulation of unfolded protein in the endoplasmic reticulum (ER), leading to ER stress, the unfolded protein response, and apoptosis in a large fraction of transfected COS-7 cells expressing mutant, but not wild-type, CA IV. | 0.127077352 | 2004 | CA4 | 17 | 60150074 | C | T |
| rs104894671 | 10967037 | 1406 | CRX | umls:C0035334 | BeFree | Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. | 0.489153079 | 2000 | CRX | 19 | 47836381 | A | C |
| rs104894672 | 12819982 | 1406 | CRX | umls:C0035334 | BeFree | A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients. | 0.489153079 | 2003 | CRX | 19 | 47836263 | C | T |
| rs104894672 | 10967037 | 1406 | CRX | umls:C0035334 | BeFree | Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. | 0.489153079 | 2000 | CRX | 19 | 47836263 | C | T |
| rs104894673 | 10967037 | 1406 | CRX | umls:C0035334 | BeFree | Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. | 0.489153079 | 2000 | CRX | 19 | 47839335 | C | T |
| rs104894673 | 24516401 | 1406 | CRX | umls:C0035334 | BeFree | R90W mice carry a substitution mutation in the CRX homeodomain, Arg90Trp, which is associated with dominant mild late-onset CoRD and recessive LCA. | 0.489153079 | 2013 | CRX | 19 | 47839335 | C | T |
| rs118031911 | NA | 6101 | RP1 | umls:C0035334 | CLINVAR | NA | 0.271362619 | NA | RP1 | 8 | 54629679 | C | T |
| rs121434241 | 20309403 | 9129 | PRPF3 | umls:C0035334 | BeFree | To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying genetic mutation. | 0.125991584 | 2010 | PRPF3 | 1 | 150344216 | C | T |
| rs121434337 | 17389517 | 145226 | RDH12 | umls:C0035334 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.36617715 | 2007 | RDH12 | 14 | 67726996 | C | T |
| rs121434631 | 23472098 | 2978 | GUCA1A | umls:C0035334 | BeFree | RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. | 0.003257302 | 2013 | GUCA1A | 6 | 42179248 | C | G,T |
| rs121909076 | NA | 7287 | TULP1 | umls:C0035334 | CLINVAR | NA | 0.247805801 | NA | TULP1 | 6 | 35503816 | A | G |
| rs121909398 | 15708351 | 375298 | CERKL | umls:C0035334 | BeFree | Furthermore, we propose that the cause for retinitis pigmentosa in patients bearing the CERKL R257X mutation might be the accumulation of a truncated CERKL protein in the nucleus. | 0.126448592 | 2005 | CERKL | 2 | 181558617 | G | C,A |
| rs121912550 | 15851576 | 3614 | IMPDH1 | umls:C0035334 | BeFree | Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. | 0.262351498 | 2005 | IMPDH1 | 7 | 128398557 | C | T |
| rs121917745 | NA | 6121 | RPE65 | umls:C0035334 | CLINVAR | NA | 0.372711618 | NA | RPE65 | 1 | 68429835 | G | A |
| rs121917849 | 11754917 | 7274 | TTPA | umls:C0035334 | BeFree | To discuss the clinicopathological findings in a patient with retinitis pigmentosa (RP) accompanied by a vitamin E deficiency caused by an H101Q mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene. | 0.121628651 | 2001 | TTPA | 8 | 63072990 | A | C |
| rs121917849 | 12039660 | 7274 | TTPA | umls:C0035334 | BeFree | AVED caused by the 744 del A could be distinguished by head titubation, lower frequency of the neuropathy and slower disease progression, decreased visual activity and retinitis pigmentosa, which has also been associated with a His(101) Gln missense mutation in the alpha-TTP gene. | 0.121628651 | 2002 | TTPA | 8 | 63072990 | A | C |
| rs121918581 | NA | 5158 | PDE6B | umls:C0035334 | CLINVAR | NA | 0.451096779 | NA | PDE6B;LOC102725200 | 4 | 662188 | C | T |
| rs121918582 | 17044014 | 5158 | PDE6B | umls:C0035334 | BeFree | Individuals with CSNB in the Rambusch pedigree were found to carry the H258N allele of PDE6B (MIM | |||||||
| 180072); a similar mutation was not found in RP patients. | 0.451096779 | 2007 | PDE6B;LOC101928521 | 4 | 653912 | C | A | ||||||
| rs137853903 | 15505030 | 2979 | GUCA1B | umls:C0035334 | BeFree | Individual patients with atypical or recessive retinitis pigmentosa (RP) had additional heterozygous GCAP1-T114I and GCAP2 gene changes (V85M and F150C) of unknown pathogenicity. | 0.243452799 | 2004 | GUCA1B | 6 | 42188686 | C | T |
| rs137853903 | 15505030 | 2978 | GUCA1A | umls:C0035334 | BeFree | Individual patients with atypical or recessive retinitis pigmentosa (RP) had additional heterozygous GCAP1-T114I and GCAP2 gene changes (V85M and F150C) of unknown pathogenicity. | 0.003257302 | 2004 | GUCA1B | 6 | 42188686 | C | T |
| rs139185976 | 10627133 | 5961 | PRPH2 | umls:C0035334 | BeFree | We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP. | 0.260150169 | 1998 | PRPH2 | 6 | 42704570 | C | T |
| rs139185976 | 10627133 | 123 | PLIN2 | umls:C0035334 | BeFree | We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP. | 0.002995792 | 1998 | PRPH2 | 6 | 42704570 | C | T |
| rs144738703 | NA | 26121 | PRPF31 | umls:C0035334 | CLINVAR | NA | 0.279773436 | NA | PRPF31 | 19 | 54123836 | C | A,G,T |
| rs147394623 | 25255364 | 4117 | MAK | umls:C0035334 | BeFree | We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. | 0.241357209 | 2014 | DHDDS | 1 | 26438228 | A | G |
| rs147394623 | 25255364 | 57538 | ALPK3 | umls:C0035334 | BeFree | We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. | 0.000814326 | 2014 | DHDDS | 1 | 26438228 | A | G |
| rs147394623 | 24078709 | 79947 | DHDDS | umls:C0035334 | BeFree | We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry. | 0.120542884 | 2014 | DHDDS | 1 | 26438228 | A | G |
| rs147394623 | 25255364 | 79947 | DHDDS | umls:C0035334 | BeFree | We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. | 0.120542884 | 2014 | DHDDS | 1 | 26438228 | A | G |
| rs147620225 | 17335001 | 4901 | NRL | umls:C0035334 | BeFree | The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. | 0.369087065 | 2007 | NRL | 14 | 24082662 | C | T |
| rs149921817 | 17335001 | 4901 | NRL | umls:C0035334 | BeFree | The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. | 0.369087065 | 2007 | NRL | 14 | 24082622 | G | A |
| rs183589498 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63720822 | A | G |
| rs189993261 | 25783483 | 343171 | OR2W3 | umls:C0035334 | BeFree | After a pipeline of database filtering, including public databases and in-house databases, a novel missense mutation, c. 424 C > T transition (p.R142W) in OR2W3 gene, was identified as a potentially causative mutation for autosomal dominant RP. | 0.000271442 | 2015 | OR2W3 | 1 | 247896010 | C | T |
| rs199691910 | 17335001 | 4901 | NRL | umls:C0035334 | BeFree | The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. | 0.369087065 | 2007 | NRL | 14 | 24082650 | G | A |
| rs199867882 | NA | 50939 | IMPG2 | umls:C0035334 | CLINVAR | NA | 0.240271442 | NA | IMPG2 | 3 | 101231117 | G | A |
| rs201358563 | 17335001 | 4901 | NRL | umls:C0035334 | BeFree | The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. | 0.369087065 | 2007 | NRL | 14 | 24081247 | G | A |
| rs201493928 | NA | 6101 | RP1 | umls:C0035334 | CLINVAR | NA | 0.271362619 | NA | RP1 | 8 | 54625068 | C | T |
| rs201527662 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 216246592 | A | C |
| rs201970559 | 17335001 | 4901 | NRL | umls:C0035334 | BeFree | The p.P67S (c.199C>T) and p.L235F (c.703C>T) variations in NRL do not appear to directly cause retinitis pigmentosa, while p.E63K (c.187G>A), p.A76V (c.227C>T), p.G122E (c.365G>A), and p.H125Q (c.375C>G) are of uncertain significance. | 0.369087065 | 2007 | NRL | 14 | 24082474 | G | C |
| rs202126574 | NA | 145226 | RDH12 | umls:C0035334 | CLINVAR | NA | 0.36617715 | NA | RDH12 | 14 | 67726084 | C | T |
| rs267606690 | 20398886 | 388939 | C2orf71 | umls:C0035334 | BeFree | Two mutations were found in C2ORF71 in human RP patients: A nonsense mutation (p.W253X) in the first exon is likely to be a null allele; the second, a missense mutation (p.I201F) within a highly conserved region of the protein, leads to proteosomal degradation. | 0.240814326 | 2010 | C2orf71;LOC105374385 | 2 | 29073661 | T | A |
| rs28933989 | 9326942 | 6017 | RLBP1 | umls:C0035334 | UNIPROT | Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. | 0.36617715 | 1997 | NA | NA | NA | NA | NA |
| rs28939682 | 9390563 | 1406 | CRX | umls:C0035334 | UNIPROT | Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. | 0.489153079 | 1997 | NA | NA | NA | NA | NA |
| rs28940313 | 17389517 | 145226 | RDH12 | umls:C0035334 | BeFree | The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. | 0.36617715 | 2007 | ZFYVE26;RDH12 | 14 | 67729209 | A | G |
| rs29001566 | 22217031 | 6010 | RHO | umls:C0035334 | BeFree | Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa. | 0.464557081 | 2012 | RHO | 3 | 129533711 | C | A,G,T |
| rs29001566 | 2021172 | 6010 | RHO | umls:C0035334 | BeFree | This mutation, detected in leukocyte DNA, corresponds to a substitution of leucine for proline in amino acid 347 of the rhodopsin protein, and, therefore, we designated this form of retinitis pigmentosa as rhodopsin, proline-347-leucine. | 0.464557081 | 1991 | RHO | 3 | 129533711 | C | A,G,T |
| rs29001637 | 8943080 | 6010 | RHO | umls:C0035334 | BeFree | To explore the pathogenic mechanism of dominant mutations affecting the carboxyl terminus of rhodopsin that cause retinitis pigmentosa, we generated five lines of transgenic mice carrying the proline-347 to serine (P347S) mutation. | 0.464557081 | 1996 | RHO | 3 | 129533710 | C | T |
| rs369588426 | 15007239 | 5959 | RDH5 | umls:C0035334 | BeFree | A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. | 0.003810118 | 2004 | BLOC1S1;RDH5;BLOC1S1-RDH5 | 12 | 55719191 | G | A |
| rs372989281 | NA | 7439 | BEST1 | umls:C0035334 | CLINVAR | NA | 0.240542884 | NA | BEST1 | 11 | 61958194 | C | T |
| rs377269054 | NA | 94137 | RP1L1 | umls:C0035334 | CLINVAR | NA | 0.120271442 | NA | RP1L1 | 8 | 10622967 | G | A |
| rs387906980 | 25044745 | 57728 | WDR19 | umls:C0035334 | BeFree | The phenotype associated with homozygous p.Arg106ProPOC1B may thus be highly variable, analogous to homozygous p.Leu710Ser in WDR19 causing either isolated retinitis pigmentosa or Jeune syndrome. | 0.000542884 | 2014 | WDR19 | 4 | 39231943 | T | C |
| rs390659 | 16180699 | 5630 | PRPH | umls:C0035334 | BeFree | Peripherin/RDS gene polymorphisms (Glu304Gln and Gly338Asp) were found in Indonesian patients with retinitis pigmentosa. | 0.003800186 | 2005 | PRPH2 | 6 | 42698426 | G | C |
| rs397518039 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215877882 | T | C |
| rs434102 | 16180699 | 5630 | PRPH | umls:C0035334 | BeFree | Peripherin/RDS gene polymorphisms (Glu304Gln and Gly338Asp) were found in Indonesian patients with retinitis pigmentosa. | 0.003800186 | 2005 | PRPH2 | 6 | 42698323 | T | A,C,G |
| rs527236055 | NA | 388939 | C2orf71 | umls:C0035334 | CLINVAR | NA | 0.240814326 | NA | C2orf71;LOC105374385 | 2 | 29072136 | C | - |
| rs527236056 | NA | 388939 | C2orf71 | umls:C0035334 | CLINVAR | NA | 0.240814326 | NA | C2orf71;LOC105374385 | 2 | 29071273 | - | G |
| rs527236060 | NA | 1258 | CNGB1 | umls:C0035334 | CLINVAR | NA | 0.362638474 | NA | CNGB1 | 16 | 57964482 | C | T,G |
| rs527236061 | NA | 1258 | CNGB1 | umls:C0035334 | CLINVAR | NA | 0.362638474 | NA | CNGB1 | 16 | 57904843 | - | T |
| rs527236062 | NA | 1406 | CRX | umls:C0035334 | CLINVAR | NA | 0.489153079 | NA | CRX | 19 | 47836335 | G | C |
| rs527236063 | NA | 1406 | CRX | umls:C0035334 | CLINVAR | NA | 0.489153079 | NA | CRX | 19 | 47839964 | G | C |
| rs527236064 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63778111 | C | T |
| rs527236065 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 64590909 | - | T |
| rs527236066 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63762613 | C | T |
| rs527236067 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63721226 | G | T |
| rs527236068 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 64081870 | C | T,G |
| rs527236069 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63984390 | A | - |
| rs527236070 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63721651 | - | TGCA |
| rs527236071 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 64590664 | AC | - |
| rs527236072 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 65334996 | C | T,A |
| rs527236073 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 64591464 | - | CCTCTTGA |
| rs527236074 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 64590853 | G | A |
| rs527236075 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 64591480 | T | - |
| rs527236076 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63762520 | A | T |
| rs527236077 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 65353572 | T | A |
| rs527236078 | NA | 346007 | EYS | umls:C0035334 | CLINVAR | NA | 0.369987267 | NA | EYS | 6 | 63788134 | T | - |
| rs527236079 | NA | 9227 | LRAT | umls:C0035334 | CLINVAR | NA | 0.242367032 | NA | LRAT | 4 | 154744489 | C | T |
| rs527236080 | NA | 4117 | MAK | umls:C0035334 | CLINVAR | NA | 0.241357209 | NA | MAK | 6 | 10803830 | C | T |
| rs527236081 | NA | 4117 | MAK | umls:C0035334 | CLINVAR | NA | 0.241357209 | NA | MAK | 6 | 10803887 | G | A |
| rs527236082 | NA | 4117 | MAK | umls:C0035334 | CLINVAR | NA | 0.241357209 | NA | MAK | 6 | 10813661 | - | C |
| rs527236083 | NA | 10461 | MERTK | umls:C0035334 | CLINVAR | NA | 0.367262917 | NA | MERTK | 2 | 111929283 | A | - |
| rs527236084 | NA | 10461 | MERTK | umls:C0035334 | CLINVAR | NA | 0.367262917 | NA | MERTK | 2 | 111994404 | G | A |
| rs527236085 | NA | 4647 | MYO7A | umls:C0035334 | CLINVAR | NA | 0.122171535 | NA | MYO7A | 11 | 77162965 | G | T |
| rs527236086 | NA | 10002 | NR2E3 | umls:C0035334 | CLINVAR | NA | 0.253907006 | NA | NR2E3 | 15 | 71811969 | C | T |
| rs527236087 | NA | 4901 | NRL | umls:C0035334 | CLINVAR | NA | 0.369087065 | NA | NRL | 14 | 24082826 | A | - |
| rs527236088 | NA | 5158 | PDE6B | umls:C0035334 | CLINVAR | NA | 0.451096779 | NA | PDE6B | 4 | 660603 | T | A |
| rs527236089 | NA | 5158 | PDE6B | umls:C0035334 | CLINVAR | NA | 0.451096779 | NA | PDE6B | 4 | 659018 | G | C |
| rs527236090 | NA | 5158 | PDE6B | umls:C0035334 | CLINVAR | NA | 0.451096779 | NA | PDE6B;LOC101928521 | 4 | 655939 | G | C |
| rs527236091 | NA | 5158 | PDE6B | umls:C0035334 | CLINVAR | NA | 0.451096779 | NA | PDE6B | 4 | 660575 | G | A |
| rs527236094 | NA | 26121 | PRPF31 | umls:C0035334 | CLINVAR | NA | 0.279773436 | NA | PRPF31 | 19 | 54123783 | G | T |
| rs527236095 | NA | 26121 | PRPF31 | umls:C0035334 | CLINVAR | NA | 0.279773436 | NA | PRPF31 | 19 | 54124565 | A | T |
| rs527236096 | NA | 24148 | PRPF6 | umls:C0035334 | CLINVAR | NA | 0.240271442 | NA | PRPF6 | 20 | 63995027 | G | C |
| rs527236097 | NA | 5961 | PRPH2 | umls:C0035334 | CLINVAR | NA | 0.260150169 | NA | PRPH2 | 6 | 42721925 | C | T |
| rs527236098 | NA | 5961 | PRPH2 | umls:C0035334 | CLINVAR | NA | 0.260150169 | NA | PRPH2 | 6 | 42721836 | C | T |
| rs527236099 | NA | 145226 | RDH12 | umls:C0035334 | CLINVAR | NA | 0.36617715 | NA | ZFYVE26;RDH12 | 14 | 67729308 | G | - |
| rs527236100 | NA | 6010 | RHO | umls:C0035334 | CLINVAR | NA | 0.464557081 | NA | RHO | 3 | 129532282 | G | A |
| rs527236101 | NA | 6010 | RHO | umls:C0035334 | CLINVAR | NA | 0.464557081 | NA | RHO | 3 | 129528913 | C | A |
| rs527236102 | NA | 6010 | RHO | umls:C0035334 | CLINVAR | NA | 0.464557081 | NA | RHO | 3 | 129533648 | ACCC | - |
| rs527236103 | NA | 6010 | RHO | umls:C0035334 | CLINVAR | NA | 0.464557081 | NA | RHO | 3 | 129531034 | G | A |
| rs527236104 | NA | 6094 | ROM1 | umls:C0035334 | CLINVAR | NA | 0.244267125 | NA | ROM1;EML3 | 11 | 62613612 | - | G |
| rs527236105 | NA | 6101 | RP1 | umls:C0035334 | CLINVAR | NA | 0.271362619 | NA | RP1 | 8 | 54622150 | G | - |
| rs527236106 | NA | 6101 | RP1 | umls:C0035334 | CLINVAR | NA | 0.271362619 | NA | RP1 | 8 | 54628758 | G | A |
| rs527236107 | NA | 94137 | RP1L1 | umls:C0035334 | CLINVAR | NA | 0.120271442 | NA | RP1L1 | 8 | 10612126 | G | A |
| rs527236108 | NA | 6103 | RPGR | umls:C0035334 | CLINVAR | NA | 0.418185333 | NA | RPGR | X | 38287018 | C | A |
| rs527236109 | NA | 6103 | RPGR | umls:C0035334 | CLINVAR | NA | 0.418185333 | NA | RPGR | X | 38299113 | - | CTAC |
| rs527236111 | NA | 6103 | RPGR | umls:C0035334 | CLINVAR | NA | 0.418185333 | NA | RPGR | X | 38304674 | AA | - |
| rs527236112 | NA | 6103 | RPGR | umls:C0035334 | CLINVAR | NA | 0.418185333 | NA | RPGR | X | 38304647 | C | G |
| rs527236113 | NA | 23020 | SNRNP200 | umls:C0035334 | CLINVAR | NA | 0.241085767 | NA | SNRNP200 | 2 | 96293090 | C | T |
| rs527236114 | NA | 23020 | SNRNP200 | umls:C0035334 | CLINVAR | NA | 0.241085767 | NA | SNRNP200 | 2 | 96293085 | C | A |
| rs527236115 | NA | 23020 | SNRNP200 | umls:C0035334 | CLINVAR | NA | 0.241085767 | NA | SNRNP200 | 2 | 96293481 | C | T |
| rs527236116 | NA | 10210 | TOPORS | umls:C0035334 | CLINVAR | NA | 0.247815732 | NA | TOPORS | 9 | 32541968 | TCTC | - |
| rs527236117 | NA | 7287 | TULP1 | umls:C0035334 | CLINVAR | NA | 0.247805801 | NA | TULP1 | 6 | 35511648 | C | T |
| rs527236118 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215799114 | A | G |
| rs527236119 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215782779 | T | G,C |
| rs527236120 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215867170 | C | - |
| rs527236121 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 216292292 | - | TC |
| rs527236122 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215634523 | G | C |
| rs527236123 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 216418675 | C | A |
| rs527236124 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215671258 | C | A |
| rs527236125 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215648660 | C | T |
| rs527236126 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215650692 | G | A |
| rs527236127 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215674445 | C | T |
| rs55958016 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 216000489 | C | A,G,T |
| rs61748441 | NA | 1406 | CRX | umls:C0035334 | UNIPROT | NA | 0.489153079 | NA | CRX | 19 | 47839432 | G | A |
| rs61748459 | 12668763 | 1406 | CRX | umls:C0035334 | BeFree | As an example, we discover an unannotated Tf_Otx Pfam domain on the cone rod homeobox protein, which suggests a possible mechanism for how the V242M mutation on this protein causes cone-rod dystrophy. | 0.489153079 | 2003 | CRX | 19 | 47839791 | G | A |
| rs61748459 | 9427255 | 1406 | CRX | umls:C0035334 | UNIPROT | Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. | 0.489153079 | 1997 | CRX | 19 | 47839791 | G | A |
| rs61750172 | 11135490 | 3000 | GUCY2D | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family. | 0.130867606 | 2000 | GUCY2D | 17 | 8014700 | C | A,T |
| rs61750172 | 15175914 | 3000 | GUCY2D | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. | 0.130867606 | 2004 | GUCY2D | 17 | 8014700 | C | A,T |
| rs61750172 | 17041576 | 3000 | GUCY2D | umls:C0035334 | BeFree | Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1. | 0.130867606 | 2007 | GUCY2D | 17 | 8014700 | C | A,T |
| rs61750173 | 25082885 | 5961 | PRPH2 | umls:C0035334 | BeFree | Patients with pattern dystrophy (PD) were screened for mutations in PRPH2, BEST1, ELOVL4, CTRP5, and ABCA4; patients with cone-rod dystrophy (CRD) were screened for mutations in CRX, ABCA4, PRPH2, ELOVL4, and the c.2513G>A p.Arg838His variant in GUCY2D. | 0.260150169 | 2014 | GUCY2D | 17 | 8014701 | G | A |
| rs61750173 | 25082885 | 6785 | ELOVL4 | umls:C0035334 | BeFree | Patients with pattern dystrophy (PD) were screened for mutations in PRPH2, BEST1, ELOVL4, CTRP5, and ABCA4; patients with cone-rod dystrophy (CRD) were screened for mutations in CRX, ABCA4, PRPH2, ELOVL4, and the c.2513G>A p.Arg838His variant in GUCY2D. | 0.003538676 | 2014 | GUCY2D | 17 | 8014701 | G | A |
| rs61750173 | 25082885 | 114902 | C1QTNF5 | umls:C0035334 | BeFree | Patients with pattern dystrophy (PD) were screened for mutations in PRPH2, BEST1, ELOVL4, CTRP5, and ABCA4; patients with cone-rod dystrophy (CRD) were screened for mutations in CRX, ABCA4, PRPH2, ELOVL4, and the c.2513G>A p.Arg838His variant in GUCY2D. | 0.000271442 | 2014 | GUCY2D | 17 | 8014701 | G | A |
| rs61750173 | 15175914 | 3000 | GUCY2D | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. | 0.130867606 | 2004 | GUCY2D | 17 | 8014701 | G | A |
| rs61750173 | 25082885 | 3000 | GUCY2D | umls:C0035334 | BeFree | TIMP3 novel variants were found in two SFD patients, PRPH2 variants in 14 PD patients, ABCA4 variants in four PD patients, and p.Arg838His GUCY2D mutation in six patients diagnosed with dominant CRD; one patient additionally had a CRX VUS. | 0.130867606 | 2014 | GUCY2D | 17 | 8014701 | G | A |
| rs61750173 | 25082885 | 1406 | CRX | umls:C0035334 | BeFree | TIMP3 novel variants were found in two SFD patients, PRPH2 variants in 14 PD patients, ABCA4 variants in four PD patients, and p.Arg838His GUCY2D mutation in six patients diagnosed with dominant CRD; one patient additionally had a CRX VUS. | 0.489153079 | 2014 | GUCY2D | 17 | 8014701 | G | A |
| rs61751281 | NA | 6121 | RPE65 | umls:C0035334 | CLINVAR | NA | 0.372711618 | NA | RPE65 | 1 | 68446837 | C | T |
| rs61755771 | 7825692 | 5961 | PRPH2 | umls:C0035334 | BeFree | A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop). | 0.260150169 | 1995 | PRPH2 | 6 | 42722199 | G | A |
| rs61755798 | 11485765 | 5630 | PRPH | umls:C0035334 | BeFree | A novel mutation (Pro210Leu) of the peripherin/RDS gene has been found in one Japanese patient with retinitis pigmentosa. | 0.003800186 | 2001 | PRPH2 | 6 | 42704564 | G | C,A |
| rs61755798 | 11485765 | 5961 | PRPH2 | umls:C0035334 | BeFree | A novel mutation (Pro210Leu) of the peripherin/RDS gene has been found in one Japanese patient with retinitis pigmentosa. | 0.260150169 | 2001 | PRPH2 | 6 | 42704564 | G | C,A |
| rs61755800 | 18050133 | 5961 | PRPH2 | umls:C0035334 | BeFree | To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. | 0.260150169 | 2007 | PRPH2 | 6 | 42704559 | T | G,C |
| rs61755800 | 18050133 | 5630 | PRPH | umls:C0035334 | BeFree | To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. | 0.003800186 | 2007 | PRPH2 | 6 | 42704559 | T | G,C |
| rs61755815 | 8540854 | 5630 | PRPH | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. | 0.003800186 | 1996 | PRPH2 | 6 | 42704463 | T | G |
| rs61755815 | 8540854 | 5961 | PRPH2 | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. | 0.260150169 | 1996 | PRPH2 | 6 | 42704463 | T | G |
| rs61755817 | NA | 5961 | PRPH2 | umls:C0035334 | CLINVAR | NA | 0.260150169 | NA | PRPH2 | 6 | 42704457 | A | G |
| rs62638193 | 11078852 | 5959 | RDH5 | umls:C0035334 | BeFree | His mother had the Arg280His mutation and his father had the Val177Gly mutation, but his father's aunt who has typical retinitis pigmentosa had the wild type RDH5 gene. | 0.003810118 | 2000 | RDH5;BLOC1S1-RDH5 | 12 | 55724427 | G | A,T |
| rs62638646 | NA | 6103 | RPGR | umls:C0035334 | CLINVAR | NA | 0.418185333 | NA | RPGR | X | 38318828 | C | T |
| rs62645926 | 8540854 | 5630 | PRPH | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. | 0.003800186 | 1996 | PRPH2 | 6 | 42721784 | T | G |
| rs62645926 | 8540854 | 5961 | PRPH2 | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. | 0.260150169 | 1996 | PRPH2 | 6 | 42721784 | T | G |
| rs62645932 | 8912967 | 5961 | PRPH2 | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. | 0.260150169 | 1996 | PRPH2 | 6 | 42704594 | A | T |
| rs62645932 | 8912967 | 5630 | PRPH | umls:C0035334 | BeFree | Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. | 0.003800186 | 1996 | PRPH2 | 6 | 42704594 | A | T |
| rs62645935 | 24963162 | 5961 | PRPH2 | umls:C0035334 | BeFree | Finally, we demonstrate that the p.G266D retinitis pigmentosa mutation found within TM4 selectively abolishes the binding of peripherin-2 to rhodopsin. | 0.260150169 | 2015 | PRPH2 | 6 | 42704396 | C | T |
| rs730882261 | NA | 6103 | RPGR | umls:C0035334 | CLINVAR | NA | 0.418185333 | NA | RPGR | X | 38286572 | CT | - |
| rs779007169 | NA | 9742 | IFT140 | umls:C0035334 | CLINVAR | NA | 0.240271442 | NA | IFT140 | 16 | 1520177 | C | G,T |
| rs80338902 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 216247118 | C | A |
| rs80338903 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 216247095 | C | - |
| rs80338904 | NA | 7399 | USH2A | umls:C0035334 | CLINVAR | NA | 0.381527241 | NA | USH2A | 1 | 215671085 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001133 | Constriction of peripheral visual field | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000510 | Rod-cone dystrophy | MP:0003225 | axonal dystrophy | axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000551 | Abnormality of color vision | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000551 | Abnormality of color vision | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001133 | Constriction of peripheral visual field | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000662 | Nyctalopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000510 | Rod-cone dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 46 |
|---|---|
| Disease | cone rod dystrophy |
| Case | (Waiting for update.) |