NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.010 GeneticVariation phenotype LHGDN 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