Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.110 GeneticVariation phenotype BEFREE We report three consecutive generations harboring heterozygous 24-polyalanine repeats in the PHOX2B gene with manifestations ranging from apparently asymptomatic to alveolar hypoventilation and apnea requiring mechanical ventilation. 23460419 2014
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.110 Biomarker phenotype HPO