eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| retinal degeneration | ||||
| Disease ID | 819 |
|---|---|
| Disease | retinal degeneration |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0456909 | blindness | 20 C0456909 | vision loss | 3 C0456909 | loss of vision | 1 C1449744 | progressive myopia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:21) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893768 | 17715341 | 6010 | RHO | umls:C0035304 | BeFree | Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin. | 0.130314791 | 2007 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 12140048 | 6010 | RHO | umls:C0035304 | BeFree | A marked variation in the extent of retinal degeneration can be seen in two relatives with retinitis pigmentosa and rhodopsin, Pro23His. | 0.130314791 | 2002 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 1775314 | 6010 | RHO | umls:C0035304 | BeFree | Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. | 0.130314791 | 1991 | RHO | 3 | 129528801 | C | A |
| rs104893768 | 7960587 | 6010 | RHO | umls:C0035304 | BeFree | In contrast to other animal models for hereditary retinal degeneration (rd, RCS), a novel feature of the P23H degeneration is an accumulation of rhodopsin, transducin, and PDE within the outer plexiform layer of the retina. | 0.130314791 | 1994 | RHO | 3 | 129528801 | C | A |
| rs104893769 | 23646198 | 6010 | RHO | umls:C0035304 | BeFree | Ablation of C/EBP homologous protein does not protect T17M RHO mice from retinal degeneration. | 0.130314791 | 2013 | RHO | 3 | 129528783 | C | T |
| rs104893769 | 25522272 | 6010 | RHO | umls:C0035304 | BeFree | These mutant rhodopsin species induce severe retinal degeneration and T17M rhodopsin elicits UPR activation when expressed in mice. | 0.130314791 | 2014 | RHO | 3 | 129528783 | C | T |
| rs104893769 | 25274813 | 6010 | RHO | umls:C0035304 | 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. | 0.130314791 | 2015 | RHO | 3 | 129528783 | C | T |
| rs104893769 | 24573320 | 6010 | RHO | umls:C0035304 | BeFree | However, the molecular mechanisms underlying T17M rhodopsin‑induced retinal degeneration are yet to be elucidated. | 0.130314791 | 2014 | RHO | 3 | 129528783 | C | T |
| rs104893769 | 23646198 | 1649 | DDIT3 | umls:C0035304 | BeFree | Ablation of C/EBP homologous protein does not protect T17M RHO mice from retinal degeneration. | 0.000271442 | 2013 | RHO | 3 | 129528783 | C | T |
| rs104893790 | 7846071 | 6010 | RHO | umls:C0035304 | BeFree | Although rhodopsin mutations typically are associated with retinal degeneration, Gly90Asp-affected subjects up to age 33 did not show clinical retinal changes. | 0.130314791 | 1995 | RHO | 3 | 129529002 | G | A |
| rs104893967 | 22042849 | 2978 | GUCA1A | umls:C0035304 | BeFree | We used self-complementary (sc) AAV2/8 vector to develop an RNAi-based gene therapy in a dominant retinal degeneration mouse model expressing bovine GCAP1(Y99C). | 0.001357209 | 2011 | GUCA1A | 6 | 42178374 | A | G |
| rs121434491 | 25389134 | 2202 | EFEMP1 | umls:C0035304 | BeFree | Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. | 0.000542884 | 2015 | EFEMP1;LOC105374679 | 2 | 55871091 | G | A |
| rs387907338 | 20141356 | 1410 | CRYAB | umls:C0035304 | BeFree | Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). | 0.000542884 | 2010 | CRYAB;HSPB2;HSPB2-C11orf52 | 11 | 111911559 | G | A |
| rs45531937 | 18353766 | 8048 | CSRP3 | umls:C0035304 | BeFree | Elevated expressions of heat shock protein 70 cognate 3 and ATP synthase are known to be directly involved in A53T alpha-synuclein-mediated toxicity and PD; three up-regulated proteins (muscle LIM protein at 60A, manganese-superoxide dismutase, and troponin T) and two down-regulated proteins (chaoptin and retinal degeneration A) have literature-supported associations with cellular malfunctions. | 0.000271442 | 2008 | CSRP3 | 11 | 19192427 | C | T |
| rs61752871 | 17933883 | 6121 | RPE65 | umls:C0035304 | BeFree | We generated R91W knock-in mice to understand the mechanism of retinal degeneration caused by this aberrant Rpe65 variant. | 0.006981544 | 2008 | RPE65 | 1 | 68444858 | G | A |
| rs61752871 | 21304899 | 6121 | RPE65 | umls:C0035304 | BeFree | Using the Rpe65(R91W/R91W) mouse, which carries a mutation in the Rpe65 gene leading to progressive photoreceptor degeneration in both patients and mice, we defined stages of retinal degeneration that still allow cone rescue. | 0.006981544 | 2011 | RPE65 | 1 | 68444858 | G | A |
| rs61755792 | 9810570 | 5630 | PRPH | umls:C0035304 | BeFree | A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. | 0.002171535 | 1998 | PRPH2 | 6 | 42721821 | G | C,A |
| rs61755792 | 9810570 | 5961 | PRPH2 | umls:C0035304 | BeFree | A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. | 0.002985861 | 1998 | PRPH2 | 6 | 42721821 | G | C,A |
| rs62635652 | 17234588 | 9232 | PTTG1 | umls:C0035304 | BeFree | A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. | 0.000271442 | 2007 | CRB1 | 1 | 197344378 | T | A,G |
| rs62635652 | 17234588 | 23418 | CRB1 | umls:C0035304 | BeFree | A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. | 0.004267125 | 2007 | CRB1 | 1 | 197344378 | T | A,G |
| rs76024428 | 22405330 | 83394 | PITPNM3 | umls:C0035304 | BeFree | Our observations of the PITPNM3 p.Q626H mutation carriers confirm that CORD5 is a disease not to mix with other retinal degenerations mapped to 17p13. | 0.000814326 | 2013 | PITPNM3 | 17 | 6468237 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 819 |
|---|---|
| Disease | retinal degeneration |
| Case | (Waiting for update.) |