PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692055
rs1131692055
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.800 GeneticVariation UNIPROT
dbSNP: rs1131692055
rs1131692055
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1554856032
rs1554856032
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		T 0.800 CausalMutation CLINVAR Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs1554856032
rs1554856032
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.800 GeneticVariation UNIPROT Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs587777708
rs587777708
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.800 GeneticVariation UNIPROT Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs587777708
rs587777708
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs79555199
rs79555199
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs79555199
rs79555199
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. 21326282 2011
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). 9760197 1998
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. 22213154 2012
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4016304
Disease:
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES 		C 0.700 CausalMutation CLINVAR
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. 19954729 2009
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT PAX2 mutations in oligomeganephronia. 11168927 2001
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. 15652857 2005
dbSNP: rs1057518761
rs1057518761
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C3887499
Disease:
Renal cyst 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs10748798
rs10748798
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10883543
rs10883543
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1201078720
rs1201078720
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		0.700 GeneticVariation UNIPROT Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs1403345811
rs1403345811
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. 22213154 2012
dbSNP: rs1403345811
rs1403345811
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. 15652857 2005
dbSNP: rs1403345811
rs1403345811
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). 9760197 1998
dbSNP: rs1403345811
rs1403345811
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs1403345811
rs1403345811
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. 19954729 2009
dbSNP: rs1403345811
rs1403345811
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT PAX2 mutations in oligomeganephronia. 11168927 2001