Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.450 GeneticVariation phenotype BEFREE Thirteen Spanish unrelated families segregating X-linked hearing impairment were screened for PRPS1 mutations by Sanger sequencing. 25785835 2015
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.450 GeneticVariation phenotype BEFREE A subsequent screening of the entire PRPS1 gene in 16 unrelated probands from X-linked deaf families led to the discovery of two additional missense variants (c.343A>G (p.M115V) and c.925G>T (p.V309F)) segregating with hearing impairment, and associated with mildly-symptomatic peripheral neuropathy. 25182139 2015
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.450 Biomarker phenotype BEFREE Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment. 26089585 2015
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.450 GeneticVariation phenotype BEFREE Our results show that missense mutations in PRPS1 can cause a continuous spectrum of features ranging from progressive non-syndromic postlingual hearing impairment to uric acid overproduction, neuropathy, and recurrent infections depending on the functional sites that are affected. 22246954 2012
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.450 GeneticVariation phenotype BEFREE Patients with PRS-I superactivity primarily present with uric acid overproduction, mental retardation, ataxia, hypotonia, and hearing impairment. 20380929 2010
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.450 Biomarker phenotype GENOMICS_ENGLAND Mapping of DFN2 to Xq22. 8968763 1996
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
0.450 Biomarker phenotype HPO