NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 GeneticVariation disease BEFREE When yeast two-hybrid assay was performed by using Tβ4 as a bait, we rescued nephronophthisis 3(NPHP3), one of the components of primary cilia. 31048733 2019
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease MGD microRNA-17 family promotes polycystic kidney disease progression through modulation of mitochondrial metabolism. 28205547 2017
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 CausalMutation disease CLINVAR Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. 28921755 2017
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease BEFREE This region contained two known ciliopathy genes: NPHP3 (adolescent nephronophthisis) and IQCB1 (NPHP5), which is associated with Senior-Löken syndrome. 20007846 2010
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 GeneticVariation disease BEFREE Mutations of NPHP3, known to be associated with adolescent nephronophthisis, were found in two patients with early-onset ESRD. 19177160 2009
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease MGD Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease BEFREE Mutations in 3 genes (NPHP1, NPHP3 and NPHP4) have been identified in patients with juvenile or adolescent nephronophthisis (NPHP) without extrarenal involvement, mainly in patients from western countries. 16724659 2006
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 GeneticVariation disease UNIPROT Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease GENOMICS_ENGLAND Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease MGD Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 GeneticVariation disease BEFREE Affected individuals of two NPH3 families and one SLS family with haplotypes indicative for homozygosity by descent for the NPHP3/SLSN3 locus were studied.No mutation in KIAA0678 was detected. 12438707 2002
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease BEFREE In a large Venezuelan kindred, a new type of nephronophthisis was recently identified: Adolescent nephronophthisis (NPH3) is a late-onset recessive renal cystic disorder of the nephronophthisis/medullary cystic group of diseases causing end-stage renal disease at a median age of 19 yr. With the use of a homozygosity mapping strategy, the gene (NPHP3) was previously localized to chromosome 3q22 within a critical interval of 2.4 cM. 11134256 2001
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease GENOMICS_ENGLAND
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease GENOMICS_ENGLAND
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease CTD_human
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		0.960 Biomarker disease GENOMICS_ENGLAND
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 CausalMutation disease CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 Biomarker disease GENOMICS_ENGLAND Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. 23686967 2013
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 CausalMutation disease CLINVAR Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 20007846 2010
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		0.700 GermlineCausalMutation disease ORPHANET Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 CausalMutation disease CLINVAR Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 GeneticVariation disease UNIPROT Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 12872122 2003
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		0.700 Biomarker disease CTD_human