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Article

Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.

European journal of human genetics : EJHG - 1 Jun 2026

Miranda-Alcaraz Lucía, Mora-Gómez Mónica, Gallego-Zazo Natalia, Cruz-Utrilla Alejandro, Del Cerro Marín María Jesús, Ochoa Parra Nuria, Martín de Miguel Irene, Gutiérrez Ortiz Eva, Jiménez-Estrada Juan Andrés, Parra Alejandro, Cazalla Mario, Ramos Sergio, Rodríguez-Canó Manuel, Silván Cristina, Vásquez-Amell Valeria, Arias Pedro, Nevado Julián, de Jesús Pérez Vinicio, Lapunzina Pablo, Escribano-Subías Pilar, Tenorio-Castano Jair

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a severe disease characterized by elevated pulmonary artery pressure, leading to heart failure and premature death if untreated. Genetic factors significantly contribute to PAH, and several genes have been linked to its development. According to the ClinGen PH-GCEP group, 12 genes have definitive evidence of association with PAH, three have moderate evidence, six have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41882294
DOI: 10.1038/s41431-026-02081-2
PMCID: PMC13246856

Genes

PAH
ABCC8
GGCX
KLF2
KLK1
PDGFD
AQP1
BMP10
BMPR1A
BMPR1B
FBLN2
NOTCH3
SMAD1
SMAD4
TET2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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