NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Congenital contractural arachnodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 Biomarker disease BEFREE Here we show that the PRH/HHEX transcription factor forms a positive transcriptional feedback loop with Notch3 that is critical in CCA. 31843982 2020