NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Infantile nystagmus syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 Biomarker disease BEFREE Protein analysis showed an active NOTCH2-HES1 signalling in INS cell lines, especially in cells resistant to 5-FU. 29175872 2018