DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Mucopolysaccharidosis Type IIIA ×

Variant: rs770947426 ×

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:

rs770947426

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

22976768

2013

dbSNP:

rs770947426

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

21910976

2011

dbSNP:

rs770947426

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

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

21204211

2011

dbSNP:

rs770947426

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

21061399

2010

dbSNP:

rs770947426

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Expression and functional characterization of human mutant sulfamidase in insect cells.

15542396

2004

dbSNP:

rs770947426

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.

11343308

2001

dbSNP:

rs770947426

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:

rs770947426

SGSH

CUI:	C0086647
Disease:	Mucopolysaccharidosis Type IIIA

Mucopolysaccharidosis Type IIIA

0.700

CausalMutation

CLINVAR

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

9744479

1998

dbSNP:

rs770947426

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