Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280617
Disease: Nephronophthisis-like nephropathy
Nephronophthisis-like nephropathy
0.300 Biomarker phenotype GENOMICS_ENGLAND Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 20179356 2010