rs398124546
|
NPHP3;NPHP3-ACAD11
|
Congenital heart disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Liver involvement was observed in all patients with NPHP3 mutations and congenital heart disease in two patients harbouring NPHP3 mutation of c.2369 T > C (p.L790P).
|
26184788 |
2016 |
rs572076167
|
NPHP3;NPHP3-ACAD11
|
Tonometry
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association analyses identify new loci influencing intraocular pressure.
|
29617998 |
2018 |
rs771742823
|
NPHP3;NPHP3-AS1;NPHP3-ACAD11
|
NEPHRONOPHTHISIS 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.
|
28921755 |
2017 |
rs17348614
|
NPHP3;NPHP3-ACAD11
|
Finding of Mean Corpuscular Hemoglobin
|
T |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
rs17348614
|
NPHP3;NPHP3-ACAD11
|
Mean Corpuscular Volume (result)
|
T |
0.700 |
GeneticVariation |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
Situs Inversus
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterizing the morbid genome of ciliopathies.
|
27894351 |
2016 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterizing the morbid genome of ciliopathies.
|
27894351 |
2016 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
C |
0.700 |
CausalMutation |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
Situs Inversus
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
|
20007846 |
2010 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
|
20007846 |
2010 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
|
20007846 |
2010 |
rs201237799
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
|
19177160 |
2009 |
rs267606916
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.
|
19303681 |
2009 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
Situs Inversus
|
C |
0.700 |
CausalMutation |
CLINVAR |
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
|
18371931 |
2008 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
|
C |
0.700 |
CausalMutation |
CLINVAR |
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
|
18371931 |
2008 |
rs751527253
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
C |
0.700 |
CausalMutation |
CLINVAR |
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
|
18371931 |
2008 |
rs119456959
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
|
12872122 |
2003 |
rs142021049
|
NPHP3;NPHP3-ACAD11
|
NEPHRONOPHTHISIS 3
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
|
12872122 |
2003 |
rs202048210
|
NPHP3;NPHP3-ACAD11
|
NEPHRONOPHTHISIS 3
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
|
12872122 |
2003 |
rs755094682
|
NPHP3;NPHP3-ACAD11
|
NEPHRONOPHTHISIS 3
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
|
12872122 |
2003 |
rs1057521090
|
NPHP3;NPHP3-ACAD11
|
NEPHRONOPHTHISIS 3
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1060499938
|
NPHP3;NPHP3-ACAD11
|
Nephronophthisis
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060499938
|
NPHP3;NPHP3-ACAD11
|
NEPHRONOPHTHISIS 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119456959
|
NPHP3;NPHP3-ACAD11
|
NEPHRONOPHTHISIS 3
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|