NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE DNA analysis showed a NPHP3 (coding nephrocystin-3) homozygote mutation, confirming that this malformation complex is a ciliopathy. 21845392 2013