NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Micrognathism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 GeneticVariation disease BEFREE We demonstrate that prenatally-detected phenotypes of CdLS, particularly severe micrognathia and bilateral upper limb defects, are associated with an increased frequency of NIPBL mutations. 24218399 2014
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 Biomarker disease HPO