NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Disease: NEPHRONOPHTHISIS 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1433852047
rs1433852047
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
CUI: C1847013
Disease:
NEPHRONOPHTHISIS 4 		0.700 GeneticVariation UNIPROT NPHP4 variants are associated with pleiotropic heart malformations. 22550138 2012
dbSNP: rs1433852047
rs1433852047
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
CUI: C1847013
Disease:
NEPHRONOPHTHISIS 4 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 17558407 2007
dbSNP: rs1433852047
rs1433852047
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
CUI: C1847013
Disease:
NEPHRONOPHTHISIS 4 		0.700 GeneticVariation UNIPROT Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 15776426 2005
dbSNP: rs1433852047
rs1433852047
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
CUI: C1847013
Disease:
NEPHRONOPHTHISIS 4 		0.700 GeneticVariation UNIPROT Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. 16339905 2005
dbSNP: rs1433852047
rs1433852047
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
CUI: C1847013
Disease:
NEPHRONOPHTHISIS 4 		0.700 GeneticVariation UNIPROT A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002
dbSNP: rs1433852047
rs1433852047
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
CUI: C1847013
Disease:
NEPHRONOPHTHISIS 4 		0.700 GeneticVariation UNIPROT The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 12244321 2002