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GBA1 and Gaucher disease are reported together in 2 articles.
Gene
GBA1
- HGNC
- HGNC:4177
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Gaucher disease
25articles
25mentions
5co-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
2 records shown · first 60Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.
PMID 38843618 | DOI 10.1016/j.parkreldis.2024.107023 · Parkinsonism & related disorders · 2024 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GBA1 | “INTRODUCTION: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation.” | 0.98 | hgnc_dict_v1 |
| phenotype | Gaucher disease | “Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Parkinson disease | “Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.” | 0.93 | phenotype_alias_lexicon_v2 |
Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1.
PMID 35349295 | DOI 10.1021/acs.jproteome.2c00068 · Journal of proteome research · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GBA1 | “Gaucher disease (GD) is a lysosomal storage disorder resulting from a biallelic mutation in the gene GBA1, leading to deficiencies in the enzyme β-glucocerebrosidase (Gcase).” | 0.98 | hgnc_dict_v1 |
| phenotype | Gaucher disease | “Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “Gaucher disease (GD) is a lysosomal storage disorder resulting from a biallelic mutation in the gene GBA1, leading to deficiencies in the enzyme β-glucocerebrosidase (Gcase).” | 0.93 | phenotype_alias_lexicon_v2 |