NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Sjogren-Larsson Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		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