DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Mucopolysaccharidosis Type IIIA ×

Variant: rs752914124 ×

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:

rs752914124

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

26787381

2016

dbSNP:

rs752914124

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

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

19099774

2008

dbSNP:

rs752914124

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

9285796

1997

dbSNP:

rs752914124

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

Molecular defects in Sanfilippo syndrome type A.

9158154

1997

dbSNP:

rs752914124

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

GeneticVariation

CLINVAR

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

7493035

1995