PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; N. variants: 11
Disease: Hirschsprung disease ganglioneuroblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751683
Disease: Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease ganglioneuroblastoma 		0.600 SusceptibilityMutation disease ORPHANET Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. 28371199 2017
CUI: C2751683
Disease: Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease ganglioneuroblastoma 		0.600 CausalMutation disease CLINVAR
CUI: C2751683
Disease: Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease ganglioneuroblastoma 		0.600 Biomarker disease GENOMICS_ENGLAND