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ASAH1 and lysosomal storage disease are reported together in 1 article.
Gene
ASAH1
- HGNC
- HGNC:735
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Lysosomal storage disease
- HPO
- HP:0003541
50articles
50mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Novel 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.
PMID 21893389 | DOI 10.1016/j.braindev.2011.07.003 · Brain & development · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ASAH1 | “Novel 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.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Farber disease is a rare inherited lysosomal storage disorder caused by ceramidase deficiency that leads to accumulation of ceramide in various tissues.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “This is the first report of a detailed clinical and molecular analysis of cases with Farber disease from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | V97G | “Novel 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.” | 0.82 | literature_variant_regex_v2 |