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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.120 GeneticVariation disease BEFREE We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration. 18371931 2008
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.120 GeneticVariation disease BEFREE We describe mutations in NPHP3 in families with isolated NPHP and in families with NPHP with associated hepatic fibrosis or tapeto-retinal degeneration. 12872122 2003
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.120 Biomarker disease HPO