DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MPS III C ×

Variant: rs756310864 ×

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:

rs756310864

HGSNAT

CUI:	C0086649
Disease:	MPS III C

MPS III C

0.700

CausalMutation

CLINVAR

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

20583299

2010

dbSNP:

rs756310864

HGSNAT

CUI:	C0086649
Disease:	MPS III C

MPS III C

0.700

CausalMutation

CLINVAR

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

19823584

2009

dbSNP:

rs756310864

HGSNAT

CUI:	C0086649
Disease:	MPS III C

MPS III C

0.700

CausalMutation

CLINVAR

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

19479962

2009

dbSNP:

rs756310864

HGSNAT

CUI:	C0086649
Disease:	MPS III C

MPS III C

0.700

CausalMutation

CLINVAR

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

17033958

2006