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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Parkinson disease
280articles
280mentions
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 60Structural and dynamics insights into the GBA variants associated with Parkinson's disease.
PMID 37434319 | DOI 10.1080/07391102.2023.2233617 · Journal of biomolecular structure & dynamics · 2024 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Parkinson disease | “Structural and dynamics insights into the GBA variants associated with Parkinson's disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | N370S | “Genomic variants of GBA1 are associated with Goucher disease; however, several heterozygous variants of GBA (E326K, T369M, N370S, L444P) are frequent high-risk factors for Parkinson's disease (PD).” | 0.82 | literature_variant_regex_v2 |
| gene | GBA1 | “The GBA1 gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis and regulates the autophagy process.” | 0.98 | hgnc_dict_v1 |
| variant | E326K | “Genomic variants of GBA1 are associated with Goucher disease; however, several heterozygous variants of GBA (E326K, T369M, N370S, L444P) are frequent high-risk factors for Parkinson's disease (PD).” | 0.82 | literature_variant_regex_v2 |