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: 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: 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
dbSNP: rs78122364
rs78122364
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs893370744
rs893370744
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		0.700 GeneticVariation UNIPROT
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: rs753350907
rs753350907
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE A family with three members homozygous for the NPHS2 p.R229Q variant is presented: a 37-year-old patient who was diagnosed with proteinuria at age 7 months, focal segmental glomerulosclerosis (FSGS) at age 20 years, and end-stage renal disease (ESRD) at age 33 years, his 59 year-old father and his 40 year-old brother, both unaffected with no proteinuria. 23800802 2013
dbSNP: rs753350907
rs753350907
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.010 GeneticVariation BEFREE A family with three members homozygous for the NPHS2 p.R229Q variant is presented: a 37-year-old patient who was diagnosed with proteinuria at age 7 months, focal segmental glomerulosclerosis (FSGS) at age 20 years, and end-stage renal disease (ESRD) at age 33 years, his 59 year-old father and his 40 year-old brother, both unaffected with no proteinuria. 23800802 2013
dbSNP: rs104894170
rs104894170
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C4520679
Disease:
Abnormal macular morphology 		0.010 GeneticVariation BEFREE A new PAX2 missense mutation, R71T, may cause macular abnormalities in addition to anomalies of the optic disk and the kidney. 15652857 2005
dbSNP: rs886037754
rs886037754
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0151746
Disease:
Abnormal renal function 		A 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015
dbSNP: rs886037754
rs886037754
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0155299
Disease:
Coloboma of optic disc 		A 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015
dbSNP: rs886037755
rs886037755
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0155299
Disease:
Coloboma of optic disc 		A 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015
dbSNP: rs886037755
rs886037755
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0151746
Disease:
Abnormal renal function 		A 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015