ASAH1
HGNC:735 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
1Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in ASAH1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| lysosomal storage disease | HP:0003541 | 1 | 1 |
Linked variants
Variants normalized to ASAH1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| V97G | — | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
Supporting publications
2 records- 2025Leishmania donovani alters the host sphingolipid biosynthetic pathway regulatory microRNA hsa-miR-15a-5p for its survival.Microbial pathogenesisPubMed ↗
- 2012Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.Brain & developmentPubMed ↗