Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. 25785835

2015
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Association of PRPS1 Mutations with Disease Phenotypes. 26089585

2015
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 24528855

2014
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 25491489

2014
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. 24285972

2013
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR PRPS1 mutations: four distinct syndromes and potential treatment. 20380929

2010
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 20021999

2010
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Arts syndrome is caused by loss-of-function mutations in PRPS1. 17701896

2007
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. 15955956

2005
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. 12847698

2003
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR Mapping of DFN2 to Xq22. 8968763

1996
dbSNP: rs137852540
rs137852540
PRPS1
G 0.700 GeneticVariation CLINVAR X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 8498830

1993