DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation ×

Gene: SLC35A2 ×

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7355
Gene Symbol:	SLC35A2

SLC35A2

CUI:	C3806688
Disease:	Solute carrier family 35 member A2 congenital disorder of glycosylation

Solute carrier family 35 member A2 congenital disorder of glycosylation

0.730

Biomarker

GENOMICS_ENGLAND

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

30746764

2019

Entrez Id:	7355
Gene Symbol:	SLC35A2

SLC35A2

CUI:	C3806688
Disease:	Solute carrier family 35 member A2 congenital disorder of glycosylation

Solute carrier family 35 member A2 congenital disorder of glycosylation

0.730

Biomarker

GENOMICS_ENGLAND

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

23561849

2013

Entrez Id:	7355
Gene Symbol:	SLC35A2

SLC35A2

CUI:	C3806688
Disease:	Solute carrier family 35 member A2 congenital disorder of glycosylation

Solute carrier family 35 member A2 congenital disorder of glycosylation

0.730

Biomarker

GENOMICS_ENGLAND

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

23561849

2013