NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Congenital muscular hypertrophy-cerebral syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.300 Biomarker disease CTD_human BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. 29379197 2018
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.300 Biomarker disease CTD_human Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. 19763162 2009
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		0.300 Biomarker disease CTD_human Cornelia de Lange syndrome: description of the orofacial features and case report. 19886366 2008