WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Congenital diaphragmatic hernia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 Biomarker disease CTD_human We hypothesized that diaphragmatic WT1 gene expression is downregulated during diaphragmatic development in the nitrofen CDH model. 21072664 2011
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 GeneticVariation disease BEFREE Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene.CDH in DDS is rare. 18203154 2008
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 GeneticVariation disease BEFREE These findings prompted the authors to screen for WT1 gene mutations in 27 children who had congenital diaphragmatic hernia. 8811558 1996
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 AlteredExpression disease BEFREE The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. 7645607 1995
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.430 Biomarker disease HPO