Type	Entity	Source evidence	Confidence	Extractor
gene	APOE	“Then, protein-protein interaction (PPI) network analysis pinpointed seven top-ranked DEGs (GAPDH, PTEN, CCND1, APOE, ESR1, MAPK3/ERK1, and SNCA) as KGs or central modulators of PD pathogenesis.”	0.98	hgnc_dict_v1
phenotype	Parkinson disease	“Multi-Transcriptome-Informed Network Pharmacology Reveals Novel Biomarkers and Therapeutic Candidates for Parkinson's Disease.”	0.93	phenotype_alias_lexicon_v2
gene	GAPDH	“Then, protein-protein interaction (PPI) network analysis pinpointed seven top-ranked DEGs (GAPDH, PTEN, CCND1, APOE, ESR1, MAPK3/ERK1, and SNCA) as KGs or central modulators of PD pathogenesis.”	0.98	hgnc_dict_v1
gene	PTEN	“Then, protein-protein interaction (PPI) network analysis pinpointed seven top-ranked DEGs (GAPDH, PTEN, CCND1, APOE, ESR1, MAPK3/ERK1, and SNCA) as KGs or central modulators of PD pathogenesis.”	0.98	hgnc_dict_v1

PMID 40138119 | DOI 10.1007/s11033-025-10463-w · Molecular biology reports · 2025 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	APOE	“The etiology and progression of these disorders are influenced by a complex interplay of environmental factors and genetic predispositions with specific genetic markers, such as mutations in the APOE and HTT genes, which play pivotal roles.”	0.98	hgnc_dict_v1
phenotype	Parkinson disease	“Neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease (PD), Amyotrophic Lateral Sclerosis (ALS), and Huntington's disease (HD), are significant global health challenges, owing to their profound impact on cognitive, motor, and behavioral functions.”	0.93	phenotype_alias_lexicon_v2
gene	HTT	“The etiology and progression of these disorders are influenced by a complex interplay of environmental factors and genetic predispositions with specific genetic markers, such as mutations in the APOE and HTT genes, which play pivotal roles.”	0.98	hgnc_dict_v1
phenotype	amyotrophic lateral sclerosis	“Neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease (PD), Amyotrophic Lateral Sclerosis (ALS), and Huntington's disease (HD), are significant global health challenges, owing to their profound impact on cognitive, motor, and behavioral functions.”	0.98	phenotype_alias_lexicon_v2

PMID 39759457 | PMCID PMC11695131 | DOI 10.3389/fphar.2024.1478964 · Frontiers in pharmacology · 2024 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	APOE	“Key genetic markers, such as the APOE ε4 allele in AD and the CYP2D6 polymorphisms in PD, are highlighted for their roles in modulating drug efficacy.”	0.98	hgnc_dict_v1
phenotype	Parkinson disease	“Neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS) are characterized by the progressive degeneration of neuronal structure and function, leading to severe cognitive and motor impairments.”	0.93	phenotype_alias_lexicon_v2
gene	CYP2D6	“Key genetic markers, such as the APOE ε4 allele in AD and the CYP2D6 polymorphisms in PD, are highlighted for their roles in modulating drug efficacy.”	0.98	hgnc_dict_v1
phenotype	amyotrophic lateral sclerosis	“Neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS) are characterized by the progressive degeneration of neuronal structure and function, leading to severe cognitive and motor impairments.”	0.98	phenotype_alias_lexicon_v2

PMID 35725575 | PMCID PMC9209443 | DOI 10.1038/s41531-022-00344-5 · NPJ Parkinson's disease · 2022 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	APOE	“Group differences in gait and balance between PD with and without GBA variants were assessed with linear regression, adjusting for age, gender, clinical testing site, disease duration, and apolipoprotein E (APOE) ɛ4 status.”	0.98	hgnc_dict_v1
phenotype	Parkinson disease	“Cognition as a mediator for gait and balance impairments in GBA-related Parkinson's disease.”	0.93	phenotype_alias_lexicon_v2
variant	E326K	“We aimed to determine differences in gait and balance impairments in those with and without GBA variants (mutation carriers and E326K polymorphism) and explore direct and indirect effects of GBA status on gait, balance, and cognition.”	0.82	literature_variant_regex_v2

PMID 26322100 | PMCID PMC4548040 | DOI 10.5114/aoms.2015.53308 · Archives of medical science : AMS · 2015 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	APOE	“INTRODUCTION: Apolipoprotein E (APOE) genotypes influence the phenotype of several neurodegenerative disorders including Alzheimer's and Parkinson disease and may affect schizophrenia pathogenesis.”	0.98	hgnc_dict_v1
phenotype	Parkinson disease	“INTRODUCTION: Apolipoprotein E (APOE) genotypes influence the phenotype of several neurodegenerative disorders including Alzheimer's and Parkinson disease and may affect schizophrenia pathogenesis.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“This study was undertaken to determine the association between APOE gene polymorphisms and schizophrenia in the Saudi population. MATERIAL AND METHODS: APOE allele and genotype frequencies were studied in 380 Saudi subjects including schizophrenia patients and matched controls using polymerase chain reaction (PCR) and reverse-hybridization techniques.”	0.95	saudi_context_rules_v1