PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; N. variants: 11
Disease: Hirschsprung disease ganglioneuroblastoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28939716
rs28939716 		1.000 0.120 4 41747357 missense variant G/C snv
CUI: C2751683
Disease: Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease ganglioneuroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0