PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; N. variants: 11
Disease: Ganglioneuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		0.110 Biomarker disease BEFREE On the basis of this indication, we screened three Italian families with recurrence of NB and one family with occurrence of ganglioneuroblastoma and isolated Hirschsprung disease for PHOX2B defects. 15735672 2005
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		0.110 Biomarker disease HPO