Condition: NEPHRONOPHTHISIS 4
rs139022622 in
NPHP4 gene and
NEPHRONOPHTHISIS 4
PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
PMID 12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
PMID 16339905 2005 Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
PMID 22550138 2012 NPHP4 variants are associated with pleiotropic heart malformations.