SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Hypoganglionosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546275
Disease: Hypoganglionosis
Hypoganglionosis 		0.010 GeneticVariation disease BEFREE We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by SOX10 mutations. 29681101 2018