DisGeNET - a database of gene-disease associations

SPR, sepiapterin reductase, 6697

N. diseases: 90; N. variants: 12

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:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

GeneticVariation

UNIPROT

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

17159114

2006

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

GeneticVariation

UNIPROT

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

16650784

2006

dbSNP:

rs104893666

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

GeneticVariation

UNIPROT

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

16650784

2006

dbSNP:

rs104893666

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

GeneticVariation

UNIPROT

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

17159114

2006

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

GeneticVariation

UNIPROT

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

11443547

2001

dbSNP:

rs104893666

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

GeneticVariation

UNIPROT

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

11443547

2001

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893666

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs6730083

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1876487

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0013421
Disease:

Dystonia

0.700

CausalMutation

CLINVAR

Very early pattern of movement disorders in sepiapterin reductase deficiency.

24212389

2013

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0013421
Disease:

Dystonia

0.700

CausalMutation

CLINVAR

Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.

23430877

2012

dbSNP:

rs398122922

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

22522443

2012

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0013421
Disease:

Dystonia

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

21431957

2011

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0013421
Disease:

Dystonia

0.700

CausalMutation

CLINVAR

Whole-genome sequencing for optimized patient management.

21677200

2011

dbSNP:

rs121917747

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0013421
Disease:

Dystonia

0.700

CausalMutation

CLINVAR

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

16917893

2006

dbSNP:

rs398122922

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

16049044

2005

dbSNP:

rs104893665

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0013421
Disease:

Dystonia

0.700

CausalMutation

CLINVAR

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

11443547

2001

dbSNP:

rs121917746

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs121917747

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553498582

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs387907200

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776777

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs779204655

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0268468
Disease:

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs1876487

Entrez Id:	6697
Gene Symbol:	SPR

SPR

CUI:	C0030567
Disease:

Parkinson Disease

0.010

GeneticVariation

BEFREE

Haplotype analysis of three SNP-rs2421095, rs1876487, rs1561244-revealed an association with onset age (p = 0.023) and a haplotype of A-T-G alleles was associated with younger onset for PD (p = 0.005).

14663042

2003