NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Cholestasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.020 GeneticVariation disease BEFREE Patient 3 was found to have syndromic cholestasis due to bi-allelic NOTCH2 mutations. 25016221 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.020 Biomarker disease BEFREE Further studies are required to investigate the presence of Notch2 and Notch3 at other periods in liver development and to clarify the role of Notch signalling in paediatric cholestases. 15307138 2004