DisGeNET - a database of gene-disease associations

HGSNAT, heparan-alpha-glucosaminide N-acetyltransferase, 138050

N. diseases: 108; N. variants: 41

Disease: Mucopolysaccharidosis III ×

Variant: rs775078211 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs775078211

Entrez Id:	138050
Gene Symbol:	HGSNAT

HGSNAT

CUI:	C0026706
Disease:

Mucopolysaccharidosis III

0.700

CausalMutation

CLINVAR

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

18024218

2008

dbSNP:

rs775078211

Entrez Id:	138050
Gene Symbol:	HGSNAT

HGSNAT

CUI:	C0026706
Disease:

Mucopolysaccharidosis III

0.700

CausalMutation

CLINVAR

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

17397050

2007

dbSNP:

rs775078211

Entrez Id:	138050
Gene Symbol:	HGSNAT

HGSNAT

CUI:	C0026706
Disease:

Mucopolysaccharidosis III

0.700

CausalMutation

CLINVAR

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

17033958

2006