NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003467
Disease: Anxiety
Anxiety
0.110 GeneticVariation disease BEFREE In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances. 19309268 2009
CUI: C0003467
Disease: Anxiety
Anxiety
0.110 Biomarker disease HPO