rs104894170, PAX2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
0.700 CausalMutation CLINVAR
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
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 Mutations in PAX2 associate with adult-onset FSGS. 24676634 2014
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 PAX2 mutations in oligomeganephronia. 11168927 2001
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