DisGeNET - a database of gene-disease associations

ST3GAL5, ST3 beta-galactoside alpha-2,3-sialyltransferase 5, 8869

N. diseases: 78; N. variants: 10

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:

rs57339844

Entrez Id:	8869;101928113
Gene Symbol:	ST3GAL5;ST3GAL5-AS1

ST3GAL5;ST3GAL5-AS1

CUI:	C0200665
Disease:

Platelet mean volume determination (procedure)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs878854615

Entrez Id:	8869;101928113
Gene Symbol:	ST3GAL5;ST3GAL5-AS1

ST3GAL5;ST3GAL5-AS1

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

GeneticVariation

CLINVAR

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

27232954

2016

dbSNP:

rs104893668

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.

22990144

2013

dbSNP:

rs104893668

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.

23436467

2013

dbSNP:

rs878854615

Entrez Id:	8869;101928113
Gene Symbol:	ST3GAL5;ST3GAL5-AS1

ST3GAL5;ST3GAL5-AS1

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

GeneticVariation

CLINVAR

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.

22990144

2013

dbSNP:

rs104893668

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

15502825

2004

dbSNP:

rs878854615

Entrez Id:	8869;101928113
Gene Symbol:	ST3GAL5;ST3GAL5-AS1

ST3GAL5;ST3GAL5-AS1

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

GeneticVariation

CLINVAR

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

15502825

2004

dbSNP:

rs1553405319

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553405470

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs534438354

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs754643632

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs771732955

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs778265926

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs886037930

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

CUI:	C1836824
Disease:

Amish Infantile Epilepsy Syndrome

0.700

CausalMutation

CLINVAR