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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 60SORL1 mutation in a Greek family with Parkinson's disease and dementia.
PMID 34506082 | PMCID PMC8528452 | DOI 10.1002/acn3.51433 · Annals of clinical and translational neurology · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Parkinson disease | “SORL1 mutation in a Greek family with Parkinson's disease and dementia.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.G379W | “We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family.” | 0.95 | hgvs_regex_v1 |
| gene | SORL1 | “SORL1 mutation in a Greek family with Parkinson's disease and dementia.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson's disease and Parkinson's disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia).” | 0.98 | phenotype_alias_lexicon_v2 |