XPNPEP3, X-prolyl aminopeptidase 3, 63929

N. diseases: 20; N. variants: 3
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607179
rs267607179
Entrez Id: 63929
Gene Symbol: XPNPEP3
XPNPEP3
CUI: C3150419
Disease:
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		0.800 GeneticVariation UNIPROT Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 20179356 2010
dbSNP: rs267607179
rs267607179
Entrez Id: 63929
Gene Symbol: XPNPEP3
XPNPEP3
CUI: C3150419
Disease:
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 		T 0.800 CausalMutation CLINVAR