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PLA2G6 and Parkinson disease are reported together in 2 articles.
Gene
PLA2G6
- HGNC
- HGNC:9039
8articles
8mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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
2 records shown · first 60Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing.
PMID 41204171 | PMCID PMC12593947 | DOI 10.1186/s12920-025-02258-6 · BMC medical genomics · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PLA2G6 | “Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | Parkinson disease | “Whole Exome Sequencing (WES) was performed on 265 Pakistani individuals with suspected neurodevelopmental disorders, revealing that seven of them carried homozygous mutations in the PLA2G6 gene, which is linked to neurodegenerative diseases such as Infantile Neuroaxonal Dystrophy (INAD) and Parkinson's disease 14 (PD14).” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “Whole Exome Sequencing (WES) was performed on 265 Pakistani individuals with suspected neurodevelopmental disorders, revealing that seven of them carried homozygous mutations in the PLA2G6 gene, which is linked to neurodegenerative diseases such as Infantile Neuroaxonal Dystrophy (INAD) and Parkinson's disease 14 (PD14).” | 0.93 | phenotype_alias_lexicon_v2 |
PLA2G6-associated late-onset parkinsonism in a Sudanese family.
PMID 37139542 | PMCID PMC10270271 | DOI 10.1002/acn3.51781 · Annals of clinical and translational neurology · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PLA2G6 | “INTRODUCTION: The phospholipase A2 group VI gene (PLA2G6) encodes an enzyme that catalyzes the hydrolytic release of fatty acids from phospholipids.” | 0.98 | hgnc_dict_v1 |
| phenotype | Parkinson disease | “MATERIAL AND METHODS: The patients were clinically assessed following UK Brain Bank diagnostic criteria and International Parkinson and Movement Disorder Society's Unified Parkinson's Disease Rating Scale (MDS-UPDRS).” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “RESULT: Two siblings born to consanguineous parents developed parkinsonism at the age of 58 and 60 years, respectively.” | 0.80 | saudi_context_rules_v1 |
| variant | c.2070_2072del | “We found two heterozygous variants in PLA2G6, an in-frame deletion NM_003560:c.2070_2072del (p.Val691del) and a missense variant NM_003560:c.956C>T (p.Thr319Met).” | 0.95 | hgvs_regex_v1 |