PEX7 Gene

HGNC Family	WD repeat domain containing (WDR)
Name	peroxisomal biogenesis factor 7
Description	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPEX7 encodes a cytosolic receptor that is essential for the import of a distinct subset of peroxisomal matrix proteins harboring a type 2 peroxisomal targeting signal (PTS2). This receptor recognizes the PTS2 motif—often organized as an amphipathic helix with conserved residues—and collaborates with the peroxisomal co‐receptor (such as PEX5 or its long isoform, PEX5L) to ensure proper delivery of these enzymes into the peroxisome. Structural studies have revealed that PEX7 contains WD40 repeats and a conserved groove complementary in charge to the PTS2 signal, enabling highly specific cargo binding."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in the PEX7 gene underlie a spectrum of peroxisome biogenesis disorders. In its most severe form, PEX7 defects cause rhizomelic chondrodysplasia punctata (RCDP) type 1; however, milder mutations may result in phenotypes resembling Refsum disease. Genotype–phenotype correlation studies have demonstrated that the residual activity of PEX7—and even subtle effects on protein levels—can account for considerable clinical heterogeneity, ranging from profound skeletal dysplasias with biochemical abnormalities to milder forms with later onset and attenuated systemic involvement."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the mechanistic level, PEX7 functions within a receptor complex that is dynamically regulated during the peroxisomal import cycle. Its translocation into the peroxisome is dependent not only on cargo binding but also on an interaction with PEX5, which escorts the PEX7–cargo complex to the organelle membrane. Once inside, conformational changes facilitate cargo release into the matrix; thereafter, quality control processes—such as ubiquitin‐dependent proteasomal degradation mediated by the CRL4A complex—ensure the removal of dysfunctional PEX7. Moreover, novel interacting partners, including proteins like P7BP2, have been identified, emphasizing the multifaceted regulation of PEX7 and its integration into the overall protein import machinery."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nInterestingly, sequence variations in PEX7 have also been implicated as modifiers in neurodevelopmental and neurodegenerative conditions. Population‐based studies have associated PEX7 haplotype variations with alterations in the age at onset of Huntington’s disease, while separate genetic analyses have found significant correlations between PEX7 intronic polymorphisms and autism spectrum disorder, suggesting that even subtle variations in PEX7 function can impact neurological development and disease progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daan M van den Brink, Pedro Brites, Janet Haasjes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of PEX7 as the second gene involved in Refsum disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/346093"}], "href": "https://doi.org/10.1086/346093"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12522768"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12522768"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Nancy Braverman, Li Chen, Paul Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.10124"}], "href": "https://doi.org/10.1002/humu.10124"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12325024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12325024"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Markus Kunze, Georg Neuberger, Sebastian Maurer-Stroh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.301853"}], "href": "https://doi.org/10.1074/jbc.M111.301853"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22057399"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22057399"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Karen Ghys, Marc Fransen, Guy P Mannaerts, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20011432"}], "href": "https://doi.org/10.1042/BJ20011432"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11931631"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11931631"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Gerbert A Jansen, Hans R Waterham, Ronald J A Wanders "}, {"type": "b", "children": [{"type": "t", "text": "Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.10315"}], "href": "https://doi.org/10.1002/humu.10315"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14974078"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14974078"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alison M Motley, Pedro Brites, Lisya Gerez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/338998"}], "href": "https://doi.org/10.1086/338998"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11781871"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11781871"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "S R Phadke, N Gupta, K M Girisha, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Res Pediatr Endocrinol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4274/jcrpe.1835"}], "href": "https://doi.org/10.4274/jcrpe.1835"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25800479"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25800479"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Tony A Rodrigues, Inês S Alencastre, Tânia Francisco, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.601575"}], "href": "https://doi.org/10.1074/jbc.M114.601575"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25538232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25538232"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Tony A Rodrigues, Cláudia P Grou, Jorge E Azevedo "}, {"type": "b", "children": [{"type": "t", "text": "Revisiting the intraperoxisomal pathway of mammalian PEX7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep11806"}], "href": "https://doi.org/10.1038/srep11806"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26138649"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26138649"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Yasuhiro Miyauchi-Nanri, Satoru Mukai, Kosuke Kuroda, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Child Neurol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0883073811435507"}], "href": "https://doi.org/10.1177/0883073811435507"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22378669"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22378669"}]}]}]}
Synonyms	PTS2R, RCDP1, PBD9B
Proteins	PEX7_HUMAN
NCBI Gene ID	5191
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PEX7 has 5,769 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 109 datasets.

Click the + buttons to view associations for PEX7 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PEX7 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PEX7 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PEX7 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PEX7 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PEX7 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PEX7 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PEX7 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PEX7 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PEX7 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PEX7 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PEX7 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PEX7 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PEX7 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PEX7 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PEX7 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PEX7 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PEX7 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PEX7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PEX7 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PEX7 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PEX7 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PEX7 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PEX7 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PEX7 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PEX7 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PEX7 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PEX7 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PEX7 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PEX7 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PEX7 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PEX7 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PEX7 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PEX7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PEX7 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PEX7 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PEX7 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PEX7 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PEX7 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with PEX7 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with PEX7 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PEX7 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.