XPNPEP3, X-prolyl aminopeptidase 3, 63929

N. diseases: 20; N. variants: 3
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
dbSNP: rs62237039
rs62237039
Entrez Id: 63929
Gene Symbol: XPNPEP3
XPNPEP3
CUI: C0678222
Disease:
Breast Carcinoma 		G 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs766295553
rs766295553
Entrez Id: 63929;150353
Gene Symbol: XPNPEP3;DNAJB7
XPNPEP3;DNAJB7
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE We suggest that the transfection of the p27(Kip1) T187A mutant gene can be a modality of cancer gene therapy for OSCC. 12417796 2002
dbSNP: rs766295553
rs766295553
Entrez Id: 63929;150353
Gene Symbol: XPNPEP3;DNAJB7
XPNPEP3;DNAJB7
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE We suggest that the transfection of the p27(Kip1) T187A mutant gene can be a modality of cancer gene therapy for OSCC. 12417796 2002