Condition: SENIOR-LOKEN SYNDROME 4
rs144624477 in
NPHP4 gene and
SENIOR-LOKEN SYNDROME 4
PMID 21546380 2011 Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
PMID 22550138 2012 NPHP4 variants are associated with pleiotropic heart malformations.
PMID 12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.