NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119456963
rs119456963
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
0.800 GeneticVariation UNIPROT
dbSNP: rs119456963
rs119456963
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs572076167
rs572076167
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0040420
Disease:
Tonometry
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs771742823
rs771742823
Entrez Id: 27031;348808;100532724
Gene Symbol: NPHP3;NPHP3-AS1;NPHP3-ACAD11
NPHP3;NPHP3-AS1;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
A 0.700 CausalMutation CLINVAR Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. 28921755 2017
dbSNP: rs17348614
rs17348614
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1261502
Disease:
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
dbSNP: rs17348614
rs17348614
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0524587
Disease:
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
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0037221
Disease:
Situs Inversus
C 0.700 CausalMutation CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
C 0.700 CausalMutation CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
C 0.700 CausalMutation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
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
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0037221
Disease:
Situs Inversus
C 0.700 CausalMutation CLINVAR Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 20007846 2010
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
C 0.700 CausalMutation CLINVAR Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 20007846 2010
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
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
dbSNP: rs201237799
rs201237799
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
A 0.700 CausalMutation CLINVAR Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 19177160 2009
dbSNP: rs267606916
rs267606916
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
A 0.700 CausalMutation CLINVAR Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. 19303681 2009
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0037221
Disease:
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
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
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
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
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
dbSNP: rs119456959
rs119456959
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
T 0.700 CausalMutation CLINVAR Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
dbSNP: rs142021049
rs142021049
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
0.700 GeneticVariation UNIPROT Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
dbSNP: rs202048210
rs202048210
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
0.700 GeneticVariation UNIPROT Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
dbSNP: rs755094682
rs755094682
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
0.700 GeneticVariation UNIPROT Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
dbSNP: rs1057521090
rs1057521090
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
0.700 GeneticVariation UNIPROT
dbSNP: rs1060499938
rs1060499938
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499938
rs1060499938
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
A 0.700 CausalMutation CLINVAR