DisGeNET - a database of gene-disease associations

GALNS, galactosamine (N-acetyl)-6-sulfatase, 2588

N. diseases: 6; N. variants: 89

Disease: Mucopolysaccharidosis IV ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0026707
Disease:	Mucopolysaccharidosis IV

Mucopolysaccharidosis IV

0.900

Biomarker

disease

GENOMICS_ENGLAND

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

27604308

2016

CUI:	C0026707
Disease:	Mucopolysaccharidosis IV

Mucopolysaccharidosis IV

0.900

Biomarker

disease

GENOMICS_ENGLAND

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

27604308

2016

CUI:	C0026707
Disease:	Mucopolysaccharidosis IV

Mucopolysaccharidosis IV

0.900

Biomarker

disease

GENOMICS_ENGLAND

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.

15305357

2004

CUI:	C0026707
Disease:	Mucopolysaccharidosis IV

Mucopolysaccharidosis IV

0.900

Biomarker

disease

CTD_human