NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Cystic Kidney Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.020 Biomarker group 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: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.020 GeneticVariation group BEFREE Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 19303681 2009