Evidence map›Paper›PMID 42271442›Full record

ArticleClinical epigenetics2026

CRONDEX: a web-based platform for exploring links between chromatin-related genes and neurodevelopmental disorders.

Javier Guerrero-Flores, Bárbara S Viegas, Marian A Martínez-Balbás, Xavier de la Cruz

Abstract read
In one paragraph

Article in Clinical epigenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Javier Guerrero-FloresResearch Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID http://orcid.org/0009-0002-3141-1032
Bárbara S ViegasInstituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain.ORCID http://orcid.org/0009-0004-6964-9796
Marian A Martínez-BalbásInstituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain. mmbbmc@ibmb.csic.es.ORCID http://orcid.org/0000-0003-0173-0964
Xavier de la CruzResearch Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain. xavier.delacruz@vhir.org.ORCID http://orcid.org/0000-0002-9738-8472

Funding

Ministerio de Ciencia, Innovación y Universidades de España PID2021-125862NB-I00Ministerio de Ciencia, Innovación y Universidades de España PID2022-142753OB-I00Ministerio de Ciencia, Innovación y Universidades de España PREP2022-000566
6 · The paper itself

Abstract

backgroundChromatin regulatory genes are essential for orchestrating neurodevelopment by controlling DNA accessibility and the expression of genes required for neuronal differentiation and maturation. Mutations affecting these regulators-including histone modifiers, chromatin remodelers, and chromatin-binding factors-are a major cause of neurodevelopmental disorders (NDDs), many of which display overlapping yet mechanistically heterogeneous clinical features. As the catalogue of chromatin-related NDD genes has expanded, so too has the availability of phenotypic, functional, and pathway annotations. However, these data remain dispersed across multiple resources, making it difficult to integrate them in order to systematically compare genes or explore shared mechanisms. Existing platforms such as the Human Phenotype Ontology and the Monarch Initiative offer powerful phenotype-gene mapping tools, but they operate across the full genomic space and do not provide the focused framework needed to examine chromatin-related NDD genes as a coherent group.

resultsWe present CRONDEX (ChROmatin and NeuroDevelopmental disorder-related genes EXploratory platform), a user-friendly web resource developed to meet this need by supporting integrative exploration of relationships among chromatin-related genes implicated in NDDs. The database was constructed by intersecting curated chromatin (EpiFactors) and neurodevelopmental (SysNDD+Orphanet+SFARI+NDD-GeneHub) gene sets while excluding transcription factors, and enriched with annotations from Gene Ontology, KEGG, and the Human Phenotype Ontology. CRONDEX provides two complementary query modes: (i) a Gene-Based Query, which identifies genes with phenotypic profiles similar to a user-defined target using Jaccard similarity metrics; and (ii) a Criteria-Based Query, which retrieves genes matching specific phenotypic, functional, or pathway filters. Through representative examples, we show how the Gene-Based Query recovers biologically coherent relationships-from paralogous pairs such as CREBBP-EP300 to functionally convergent modules like the BAFopathies-while the Criteria-Based Query enables hypothesis-driven exploration, exemplified by the intersection of thermogenesis and chromatin-related NDDs, and by chromatin-binding genes linked to status epilepticus. By enabling rapid, integrative, and hypothesis-oriented analyses, CRONDEX facilitates the discovery of shared mechanisms across chromatin-related NDDs and supports both basic and translational research. The platform is freely accessible at https://jgf-bioinfo.shinyapps.io/CRONDEX/ .

conclusionCRONDEX provides a domain-focused platform that enables phenotype-guided exploration of chromatin-related genes, supporting mechanistic hypothesis generation in NDDs.

Indexed as

ChromatinDatabases, GeneticNeurodevelopmental DisordersBiocurationHumansInternetChromatinBAFopathiesBioinformatics platformChromatinopathiesChromatin regulationChromatin remodelingGene prioritizationHistone methylationHuman Phenotype OntologyNeurodevelopmental disordersPhenotypic similarity

Identifiers

PMID42271442
PMCPMC13474898

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.