rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
25785835
2015
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Association of PRPS1 Mutations with Disease Phenotypes.
26089585
2015
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
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
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
25491489
2014
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
24285972
2013
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
20021999
2010
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
PRPS1 mutations: four distinct syndromes and potential treatment.
20380929
2010
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Arts syndrome is caused by loss-of-function mutations in PRPS1.
17701896
2007
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
15955956
2005
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.
12847698
2003
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
Mapping of DFN2 to Xq22.
8968763
1996
rs1556299881
×
Entrez Id:
5631
Gene Symbol:
PRPS1
PRPS1
Multiple congenital anomalies
G
0.700
CausalMutation
CLINVAR
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.
8498830
1993