DisGeNET - a database of gene-disease associations

PRPS1, phosphoribosyl pyrophosphate synthetase 1, 5631

N. diseases: 151; N. variants: 26

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852541

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs137852542

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs137852543

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs137852544

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs137852545

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs80338731

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1839566
Disease:

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

0.800

GeneticVariation

UNIPROT

The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.

17701900

2007

dbSNP:

rs80338732

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1839566
Disease:

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

0.800

GeneticVariation

UNIPROT

The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.

17701900

2007

dbSNP:

rs137852540

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

7593598

1995

dbSNP:

rs137852541

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

7593598

1995

dbSNP:

rs137852542

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

7593598

1995

dbSNP:

rs137852543

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

7593598

1995

dbSNP:

rs137852544

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

7593598

1995

dbSNP:

rs137852545

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

GeneticVariation

UNIPROT

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

7593598

1995

dbSNP:

rs137852540

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852541

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852542

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852543

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852544

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852545

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1970827
Disease:

Phosphoribosylpyrophosphate Synthetase Superactivity

0.800

CausalMutation

CLINVAR

dbSNP:

rs80338731

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1839566
Disease:

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs80338732

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C1839566
Disease:

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852540

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

25785835

2015

dbSNP:

rs137852540

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Association of PRPS1 Mutations with Disease Phenotypes.

26089585

2015

dbSNP:

rs137852540

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

25785835

2015

dbSNP:

rs137852540

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Association of PRPS1 Mutations with Disease Phenotypes.

26089585

2015