×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
CausalMutation
CLINVAR
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
26673778 2016
×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
CausalMutation
CLINVAR
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
23559409 2013
×
Entrez Id: 27130
Gene Symbol: INVS
INVS
Nephronophthisis
0.500
CausalMutation
CLINVAR
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
23559409 2013
×
Entrez Id: 27130
Gene Symbol: INVS
INVS
Nephronophthisis
0.500
CausalMutation
CLINVAR
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
21866095 2011
×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
CausalMutation
CLINVAR
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
20007846 2010
×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
CausalMutation
CLINVAR
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
19177160 2009
×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
CausalMutation
CLINVAR
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.
19303681 2009
×
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
Nephronophthisis
0.500
CausalMutation
CLINVAR
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
18076122 2008
×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
CausalMutation
CLINVAR
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
18371931 2008
×
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
Nephronophthisis
0.500
CausalMutation
CLINVAR
Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.
16762963 2006
×
Entrez Id: 27130
Gene Symbol: INVS
INVS
Nephronophthisis
0.500
CausalMutation
CLINVAR
The interaction and colocalization in cilia of inversin , nephrocystin and beta-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
12872123 2003
×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
CausalMutation
CLINVAR
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
12872122 2003
×
Entrez Id: 27130
Gene Symbol: INVS
INVS
Nephronophthisis
0.500
GeneticVariation
CLINVAR
The interaction and colocalization in cilia of inversin , nephrocystin and beta-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
12872123 2003
×
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
Nephronophthisis
0.500
GeneticVariation
CLINVAR
×
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
Nephronophthisis
0.490
CausalMutation
CLINVAR
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
15776426 2005
×
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
Nephronophthisis
0.490
CausalMutation
CLINVAR
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
Nephronophthisis
0.490
CausalMutation
CLINVAR
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
12205563 2002
×
Entrez Id: 84662
Gene Symbol: GLIS2
GLIS2
Nephronophthisis
0.490
CausalMutation
CLINVAR
×
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Nephronophthisis
0.430
CausalMutation
CLINVAR
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
21866095 2011
×
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Nephronophthisis
0.430
CausalMutation
CLINVAR
Hypomorphic MKS3 /TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).
19508969 2009
×
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Nephronophthisis
0.430
CausalMutation
CLINVAR
×
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Nephronophthisis
0.430
GeneticVariation
CLINVAR
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Nephronophthisis
0.420
CausalMutation
CLINVAR
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
24876116 2014
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Nephronophthisis
0.420
GeneticVariation
CLINVAR
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
21258341 2011
×
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Nephronophthisis
0.420
CausalMutation
CLINVAR
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
21258341 2011