DisGeNET - a database of gene-disease associations

Mucopolysaccharidosis VI, C0026709

Variant: rs1554032217 ×

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:

rs1554032217

ARSB

0.700

GeneticVariation

CLINVAR

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

27826022

2017

dbSNP:

rs1554032217

ARSB

0.700

GeneticVariation

CLINVAR

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

26609033

2015

dbSNP:

rs1554032217

ARSB

0.700

GeneticVariation

CLINVAR

Mutations in ARSB in MPS VI patients in India.

26937411

2015

dbSNP:

rs1554032217

ARSB

0.700

GeneticVariation

CLINVAR

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

24677745

2014