Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.010 Biomarker BEFREE Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. 17273969

2007