XPNPEP3, X-prolyl aminopeptidase 3, 63929

N. diseases: 20; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.410 GeneticVariation disease BEFREE In 2 families with an NPHP-like phenotype, we detected homozygous frameshift and splice-site mutations, respectively, in the X-prolyl aminopeptidase 3 (XPNPEP3) gene. 20179356 2010
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.410 Biomarker disease GENOMICS_ENGLAND In 2 families with an NPHP-like phenotype, we detected homozygous frameshift and splice-site mutations, respectively, in the X-prolyl aminopeptidase 3 (XPNPEP3) gene. 20179356 2010
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.410 Biomarker disease HPO