NPTX2, neuronal pentraxin 2, 4885

N. diseases: 67; N. variants: 0
Disease: Autosomal Dominant Neurohypophyseal Diabetes Insipidus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4331824
Disease: Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Autosomal Dominant Neurohypophyseal Diabetes Insipidus 		0.020 GeneticVariation disease BEFREE The objective of this study was to identify the corresponding locus responsible for ADNDI in a family without AVP-NP II gene mutations. 15811933 2005
CUI: C4331824
Disease: Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Autosomal Dominant Neurohypophyseal Diabetes Insipidus 		0.020 GeneticVariation disease BEFREE Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). 11581002 2001