Overview
- Term
- lysosomal storage disease
- HPO
- HP:0003541
- OMIM
- -
- In SaudiVarKB
- 50 articles, 50 mentions
Co-reported genes
Genes named in the same articles as lysosomal storage disease. Co-mention, not a proven association.
Variants in these articles
Variants reported in articles that mention lysosomal storage disease; the gene is shown only when the link was confirmed by dbSNP or LitVar2.
| Variant | Gene | Articles |
|---|---|---|
| C163S | - | 1 |
| R112L | - | 1 |
| V97G | - | 1 |
| Y251X | - | 1 |
| c.1307A>G | - | 1 |
| c.145C>T | - | 1 |
| c.171C>G | - | 1 |
| c.1759C>T | - | 1 |
| c.245+1G>A | - | 1 |
| c.3488_3488delC | - | 1 |
| c.3503_3504delTC | - | 1 |
| c.451G>T | - | 1 |
| c.758_778del | - | 1 |
| c.785A>G | - | 1 |
| c.889C>T | - | 1 |
| c.914+4A>G | - | 1 |
| p.Arg297* | - | 1 |
| p.Asn177Ser | - | 1 |
| p.D528N | - | 1 |
| p.Gln262Arg | - | 1 |
| p.Y436C | - | 1 |
Saudi regions
| Region | Articles |
|---|---|
| Eastern Province | 1 |