eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| salla disease | ||||
| Disease ID | 573 |
|---|---|
| Disease | salla disease |
| Definition | A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia. |
| Synonym | sialic acid storage dis sialic acid storage disease sialic acid storage disease [disease/finding] sialuria sialuria (disorder) sialurias |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0342853 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | Symbol | Locus(Total Locus:1) SLC17A5 | 6q13 |
| Disease ID | 573 |
|---|---|
| Disease | salla disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 573 |
|---|---|
| Disease | salla disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0541403 | neuroendocrine disorder |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908621 | NA | 10020 | GNE | umls:C0342853 | CLINVAR | NA | 0.361357209 | NA | GNE | 9 | 36234106 | G | A |
| rs121908622 | NA | 10020 | GNE | umls:C0342853 | CLINVAR | NA | 0.361357209 | NA | GNE | 9 | 36234105 | C | T |
| rs121908622 | 18653764 | 10020 | GNE | umls:C0342853 | BeFree | For this study we employed synthetic siRNAs specifically targeting the dominant GNE mutation c.797G>A (p.R266Q) in sialuria fibroblasts. | 0.361357209 | 2008 | GNE | 9 | 36234105 | C | T |
| rs121908623 | NA | 10020 | GNE | umls:C0342853 | CLINVAR | NA | 0.361357209 | NA | GNE | 9 | 36234114 | C | A |
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 | 573 |
|---|---|
| Disease | salla disease |
| Case | (Waiting for update.) |