NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Senior-Loken Syndrome 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846980
Disease: Senior-Loken Syndrome 3
Senior-Loken Syndrome 3 		0.010 GeneticVariation disease BEFREE Affected individuals of two NPH3 families and one SLS family with haplotypes indicative for homozygosity by descent for the NPHP3/SLSN3 locus were studied.No mutation in KIAA0678 was detected. 12438707 2002