Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.010 GeneticVariation disease BEFREE This is the first case report (to our knowledge) demonstrating congenital central hypoventilation syndrome due to PHOX2B mutations with congenital muscle fiber-type disproportion. 18658083 2008