NPTX2, neuronal pentraxin 2, 4885

N. diseases: 67; N. variants: 0
Disease: Central Diabetes Insipidus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		0.020 GeneticVariation disease BEFREE We concluded that a novel splicing mutation in the AVP-NP II gene causes neurohypophyseal diabetes insipidus in this family. 16006166 2006
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		0.020 Biomarker disease BEFREE Here, we report a novel heterozygous missense mutation in the AVP moiety of the AVP-NP II gene in a Japanese person with neurohypophyseal diabetes insipidus (DI). 16682840 2006