DisGeNET - a database of gene-disease associations

Multiple Sulfatase Deficiency Disease, C0268263

Variant: rs137852845 ×

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:

rs137852845

SUMF1

0.700

CausalMutation

CLINVAR

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

21224894

2011

dbSNP:

rs137852845

SUMF1

0.700

CausalMutation

CLINVAR

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

12757706

2003

dbSNP:

rs137852845

SUMF1

0.700

CausalMutation

CLINVAR

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

12757705

2003