eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| retinitis punctata albescens | ||||
| Disease ID | 1566 |
|---|---|
| Disease | retinitis punctata albescens |
| Synonym | retinitis punctata albescens (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C1405854 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1566 |
|---|---|
| Disease | retinitis punctata albescens |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1566 |
|---|---|
| Disease | retinitis punctata albescens |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| PRPH2 | NM_000322.4: c.1013A>G, p.(Asp338Gly) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893775 | 8554077 | 6010 | RHO | umls:C1405854 | BeFree | Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. | 0.122909916 | 1996 | RHO | 3 | 129530917 | C | T |
| rs104893775 | NA | 6010 | RHO | umls:C1405854 | CLINVAR | NA | 0.122909916 | NA | RHO | 3 | 129530917 | C | T |
| rs137853290 | NA | 6017 | RLBP1 | umls:C1405854 | CLINVAR | NA | 0.125624334 | NA | RLBP1 | 15 | 89215133 | C | T,G |
| rs137853290 | 11453974 | 6017 | RLBP1 | umls:C1405854 | BeFree | Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. | 0.125624334 | 2001 | RLBP1 | 15 | 89215133 | C | T,G |
| rs137853291 | NA | 6017 | RLBP1 | umls:C1405854 | CLINVAR | NA | 0.125624334 | NA | RLBP1 | 15 | 89211750 | A | T |
| rs28933990 | NA | 6017 | RLBP1 | umls:C1405854 | CLINVAR | NA | 0.125624334 | NA | RLBP1 | 15 | 89210794 | G | A |
| rs28933990 | 22171637 | 6017 | RLBP1 | umls:C1405854 | BeFree | Bothnia dystrophy is a variant of recessive retinitis punctata albescens (RPA) and is caused by a homozygous R234W mutation in the RLBP1 gene. | 0.125624334 | 2012 | RLBP1 | 15 | 89210794 | G | A |
| rs28933990 | 17922155 | 6017 | RLBP1 | umls:C1405854 | BeFree | Bothnia dystrophy (BD) is a variant of recessive retinitis punctata albescens (RPA), caused by the missense mutation R233W in cellular retinaldehyde-binding protein (CRALBP), which is localized in the retinal pigment epithelium (RPE) and Müller cells of the retina. | 0.125624334 | 2008 | RLBP1 | 15 | 89210794 | G | A |
| rs434102 | 9070228 | 5961 | PRPH2 | umls:C1405854 | BeFree | Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens. | 0.001085767 | 1997 | PRPH2 | 6 | 42698323 | T | A,C,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1566 |
|---|---|
| Disease | retinitis punctata albescens |
| Case | (Waiting for update.) |