×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
Biomarker
disease
GENOMICS_ENGLAND
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
26346198
2016
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
GeneticVariation
disease
UNIPROT
NPHP4 variants are associated with pleiotropic heart malformations.
22550138
2012
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
Biomarker
disease
MGD
Homozygous mutant Nphp4 (nmf192/nmf192) mice do not exhibit renal defects, phenotypes observed in human patients bearing mutations in NPHP4 , but they do develop severe photoreceptor degeneration and extinguished rod and cone ERG responses by 9 weeks of age.
21078623
2011
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
GeneticVariation
disease
UNIPROT
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
17558407
2007
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
GeneticVariation
disease
UNIPROT
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
16339905
2005
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
GeneticVariation
disease
UNIPROT
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
15776426
2005
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
Biomarker
disease
GENOMICS_ENGLAND
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
12244321
2002
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
GeneticVariation
disease
UNIPROT
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
12244321
2002
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
GeneticVariation
disease
UNIPROT
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
12205563
2002
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
Biomarker
disease
GENOMICS_ENGLAND
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
12205563
2002
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
GeneticVariation
disease
CLINVAR
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
12205563
2002
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
Biomarker
disease
CTD_human
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
CausalMutation
disease
CLINVAR
×
Entrez Id:
261734
Gene Symbol:
NPHP4
NPHP4
0.900
Biomarker
disease
GENOMICS_ENGLAND