NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Ciliopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 GeneticVariation disease BEFREE Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation spectrum of the gene, being the first one from Pakistani population. 28921755 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 GeneticVariation disease BEFREE This report outlines a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings. 24776604 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 GeneticVariation disease BEFREE DNA analysis showed a NPHP3 (coding nephrocystin-3) homozygote mutation, confirming that this malformation complex is a ciliopathy. 21845392 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.330 Biomarker disease GENOMICS_ENGLAND