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
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
0.700 CausalMutation disease CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
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
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
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
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
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
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
0.700 Biomarker disease CTD_human
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
0.700 Biomarker disease GENOMICS_ENGLAND
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
0.700 Biomarker disease GENOMICS_ENGLAND