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Article

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.

Orphanet journal of rare diseases - 28 Dec 2012

Fernández Raquel Ma, Bleda Marta, Núñez-Torres Rocío, Medina Ignacio, Luzón-Toro Berta, García-Alonso Luz, Torroglosa Ana, Marbà Martina, Enguix-Riego Ma Valle, Montaner David, Antiñolo Guillermo, Dopazo Joaquín, Borrego Salud

Abstract excerpt

Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional gene-based association tests rely on the availability of large cohorts, which constitutes a serious limitation for its application in this scenario. To overcome this problem we have used here a combined strategy in which a pathway-based analysis (PBA) has been initially conducted to...

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Identifiers

PMID: 23270508
DOI: 10.1186/1750-1172-7-103
PMCID: PMC3575329

Genes

CHRNA7
DLC1
IQGAP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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