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: 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: 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: 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: 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: rs4551692
rs4551692
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0428883
Disease:
Diastolic blood pressure 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs4551692
rs4551692
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0871470
Disease:
Systolic Pressure 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs75462234
rs75462234
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C1852759
Disease:
Papillorenal syndrome 		C 0.700 CausalMutation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
dbSNP: rs75462234
rs75462234
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		C 0.700 CausalMutation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
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
dbSNP: rs886037756
rs886037756
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0151746
Disease:
Abnormal renal function 		TGTGAACC 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015
dbSNP: rs886037756
rs886037756
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0155299
Disease:
Coloboma of optic disc 		TGTGAACC 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015
dbSNP: rs886037757
rs886037757
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0155299
Disease:
Coloboma of optic disc 		GAC 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015
dbSNP: rs886037757
rs886037757
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
CUI: C0151746
Disease:
Abnormal renal function 		GAC 0.700 CausalMutation CLINVAR Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 26571382 2015
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: 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 Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014