DisGeNET - a database of gene-disease associations

Multiple Sulfatase Deficiency Disease, C0268263

Variant: rs137852849 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

A Patient With Atypical Multiple Sulfatase Deficiency.

26825355

2016

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.

25885655

2015

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

The identification of compound heterozygous pathogenic mutations in the SUMF1 gene c.836 C>T (p.A279V) and c.1045C>T (p.R349W) confirmed the diagnosis of MSD.

25373814

2014

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

UNIPROT

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

21224894

2011

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

18157819

2008

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

UNIPROT

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

18157819

2008

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.

15907468

2005

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

UNIPROT

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

15146462

2004

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

15146462

2004

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

UNIPROT

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

12757706

2003

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.

12757705

2003

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

UNIPROT

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.

12757705

2003

dbSNP:

rs137852849

SUMF1

0.800

GeneticVariation

CLINVAR

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

12757706

2003

dbSNP:

rs137852849

SUMF1

0.800

CausalMutation

CLINVAR