NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
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 		0.110 GeneticVariation disease BEFREE Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. 20156239 2010
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 GeneticVariation disease CLINVAR
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 Biomarker disease HPO