NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 GeneticVariation disease BEFREE Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. 23686967 2013
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 GeneticVariation disease BEFREE Mutational analysis of coding sequences did not reveal any mutations in NPHP3, a ciliopathy gene implicated in some cases of renal-hepatic-pancreatic dysplasia. 23438674 2013
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 GermlineCausalMutation disease ORPHANET Our finding confirms the recent report that NPHP3-null mutations cause renal-hepatic-pancreatic dysplasia. 20007846 2010
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 GeneticVariation disease BEFREE Our finding confirms the recent report that NPHP3-null mutations cause renal-hepatic-pancreatic dysplasia. 20007846 2010
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 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: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 Biomarker disease BEFREE Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 Biomarker disease GENOMICS_ENGLAND
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		0.540 Biomarker disease GENOMICS_ENGLAND