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: 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
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
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease GENOMICS_ENGLAND However, in vivo analyses also revealed a likely cilia-related function; suppression of zebrafish xpnpep3 phenocopied the developmental phenotypes of ciliopathy morphants, and this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal. 20179356 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 GeneticVariation disease BEFREE Driven largely by an ever increasing number of discoveries of genetic defects in primary cilia during the past decade, cilia were catapulted from a long lasting existence in obscurity into the bright spotlight in cell biology and medicine.The study by O'Toole et al. in this issue of the JCI adds a novel "enzymatic" facet to the rapidly growing information about these little cellular tails, by demonstrating that defects in the XPNPEP3 gene, which encodes mitochondrial and cytosolic splice variants of X-prolyl aminopeptidase 3, can cause nephronophthisis-like ciliopathy. 20179346 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease BEFREE However, in vivo analyses also revealed a likely cilia-related function; suppression of zebrafish xpnpep3 phenocopied the developmental phenotypes of ciliopathy morphants, and this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal. 20179356 2010
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.320 Biomarker disease GENOMICS_ENGLAND
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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		0.100 Biomarker phenotype HPO
CUI: C1968618
Disease: Tubular basement membrane disintegration
Tubular basement membrane disintegration 		0.100 Biomarker phenotype HPO
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts 		0.100 Biomarker disease HPO
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.100 Biomarker disease HPO
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		0.100 Biomarker phenotype HPO
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.100 Biomarker phenotype HPO
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		0.100 Biomarker phenotype HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE More importantly, XPNPEP3 expression was upregulated compared to normal samples in published expression data sets from several cancers including CRC. 29383790 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE More importantly, XPNPEP3 expression was upregulated compared to normal samples in published expression data sets from several cancers including CRC. 29383790 2018
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.010 Biomarker disease BEFREE Both Xaa-Pro aminopeptidase and mitochondrial processing activities of XPNPEP3 have implications toward mitochondrial fitness and cystic kidney disease. 28476889 2017