NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Congenital cystic kidney disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.020 Biomarker disease BEFREE To study the functional role of NPHP3 in normal embryonic development and in the pathogenesis of cystic kidney disease, we characterized the zebrafish ortholog nphp3 by morpholino oligo (MO)-mediated knockdown. 20462968 2010
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.020 GeneticVariation disease BEFREE Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 19303681 2009