PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; N. variants: 11
Disease: Aganglionosis, Colonic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.010 Biomarker disease BEFREE We report here an identified PHOX2B gene in a newborn baby who had concurrence of CCHS and total colonic aganglionosis with proximal small bowel involvement. 17270534 2007