eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| snowflake vitreoretinal degeneration | ||||
| Disease ID | 1693 |
|---|---|
| Disease | snowflake vitreoretinal degeneration |
| Definition | The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. [DDD:ncarter] |
| Synonym | snowflake degeneration in hereditary vitreoretinal degeneration vitreoretinal degeneration, snowflake type |
| Orphanet | |
| OMIM | |
| UMLS | C1860405 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) KCNJ13 | 2q37.1 |
| Disease ID | 1693 |
|---|---|
| Disease | snowflake vitreoretinal degeneration |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1693 |
|---|---|
| Disease | snowflake vitreoretinal degeneration |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918542 | 23255580 | 3769 | KCNJ13 | umls:C1860405 | BeFree | A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with snowflake vitreoretinal degeneration, an inherited autosomal-dominant disease characterized by vitreous degeneration and mild retinal degeneration. | 0.361357209 | 2013 | KCNJ13;GIGYF2 | 2 | 232768790 | G | A |
| rs121918542 | 23977131 | 3769 | KCNJ13 | umls:C1860405 | BeFree | Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. | 0.361357209 | 2013 | KCNJ13;GIGYF2 | 2 | 232768790 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000655 | Vitreoretinal degeneration | MP:0008518 | retinal outer nuclear layer degeneration | a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000518 | Cataract | 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:0000655 | Vitreoretinal degeneration | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1693 |
|---|---|
| Disease | snowflake vitreoretinal degeneration |
| Case | (Waiting for update.) |