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: C0740404
Disease: Limb defects
Limb defects 		0.020 GeneticVariation BEFREE Additionally, we found that individuals with mutations in NIPBL were most likely to have limb defects compared to mutations in other genes with nonsense, exonic deletion, and frameshift mutations being most prevalent in those with limb defects. 27120260

2016
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0740404
Disease: Limb defects
Limb defects 		0.020 GeneticVariation 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