rs104894170, PAX2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Papillorenal syndrome
CUI: C1852759
Disease: Papillorenal syndrome
0.700 GeneticVariation UNIPROT Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
Papillorenal syndrome
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
Papillorenal syndrome
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
Papillorenal syndrome
CUI: C1852759
Disease: Papillorenal syndrome
0.700 GeneticVariation UNIPROT Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. 15652857 2005
Papillorenal syndrome
CUI: C1852759
Disease: Papillorenal syndrome
0.700 GeneticVariation UNIPROT PAX2 mutations in oligomeganephronia. 11168927 2001
Papillorenal syndrome
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
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
0.700 CausalMutation CLINVAR
Abnormal macular morphology
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