XPNPEP3, X-prolyl aminopeptidase 3, 63929

N. diseases: 20; N. variants: 3
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150419
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		0.700 Biomarker disease GENOMICS_ENGLAND Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 20179356 2010
CUI: C3150419
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		0.700 Biomarker disease GENOMICS_ENGLAND Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 20179356 2010
CUI: C3150419
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		0.700 GeneticVariation disease UNIPROT Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 20179356 2010
CUI: C3150419
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		0.700 CausalMutation disease CLINVAR
CUI: C3150419
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		0.700 Biomarker disease CTD_human