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PSMF1 and Parkinson disease are reported together in 2 articles.
Gene
PSMF1
- HGNC
- HGNC:9571
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.
PMID 41986367 | PMCID PMC13376622 | DOI 10.1038/s41467-026-71351-w · Nature communications · 2026 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSMF1 | “Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.” | 0.98 | hgnc_dict_v1 |
| phenotype | Parkinson disease | “Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration.” | 0.93 | phenotype_alias_lexicon_v2 |
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
PMID 39148840 | PMCID PMC11326324 | DOI 10.1101/2024.06.19.24308302 · medRxiv : the preprint server for health sciences · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSMF1 | “Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.” | 0.98 | hgnc_dict_v1 |
| phenotype | Parkinson disease | “Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.” | 0.93 | phenotype_alias_lexicon_v2 |