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: rs1554856032
rs1554856032
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		T 0.700 CausalMutation CLINVAR Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs1554865146
rs1554865146
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
dbSNP: rs370214925
rs370214925
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: 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: 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: rs387906530
rs387906530
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		ACGAGAC 0.700 GeneticVariation CLINVAR 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: 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 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 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 Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. 15652857 2005
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: rs1403345811
rs1403345811
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 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 Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). 9760197 1998
dbSNP: rs387906530
rs387906530
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		ACGAGAC 0.700 GeneticVariation CLINVAR 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: C4016304
Disease:
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057518761
rs1057518761
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C3887499
Disease:
Renal cyst 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs387906530
rs387906530
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		ACGAGAC 0.700 CausalMutation CLINVAR
dbSNP: rs75399846
rs75399846
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs75462234
rs75462234
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs75462234
rs75462234
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4014925
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs75462234
rs75462234
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0017668
Disease:
Focal glomerulosclerosis 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs75462234
rs75462234
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		CGG 0.700 CausalMutation CLINVAR
dbSNP: rs76675173
rs76675173
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs77777862
rs77777862
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		T 0.700 CausalMutation CLINVAR