DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Mucopolysaccharidosis Type IIIA ×

Variant: rs753472891 ×

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:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

Natural history of Sanfilippo syndrome in Spain.

24314109

2013

dbSNP:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

21204211

2011

dbSNP:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].

19099774

2008

dbSNP:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

12000360

2002

dbSNP:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

12000360

2002

dbSNP:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

11182930

2000

dbSNP:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

11182930

2000

dbSNP:

rs753472891

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

9401012

1997