DisGeNET - a database of gene-disease associations

ALG1, ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase, 56052

N. diseases: 95; N. variants: 31

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:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

CLINVAR

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

CausalMutation

CLINVAR

Genomic diagnosis for children with intellectual disability and/or developmental delay.

28554332

2017

dbSNP:

rs369160589

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

CLINVAR

Genomic diagnosis for children with intellectual disability and/or developmental delay.

28554332

2017

dbSNP:

rs1057520122

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs1299775990

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs201337379

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

CausalMutation

CLINVAR

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

27172925

2016

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

CausalMutation

CLINVAR

Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.

27325525

2016

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

CausalMutation

CLINVAR

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

25956699

2016

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

CausalMutation

CLINVAR

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs369160589

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

CausalMutation

CLINVAR

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs398124348

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs398124349

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs553396382

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs746019074

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

CTG

0.700

CausalMutation

CLINVAR

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs746019074

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

CTG

0.700

CausalMutation

CLINVAR

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

26453362

2016

dbSNP:

rs794727301

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

26931382

2016

dbSNP:

rs746019074

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

CTG

0.700

CausalMutation

CLINVAR

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.

20679665

2010

dbSNP:

rs1057520122

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

14973778

2004

dbSNP:

rs1057520122

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

14709599

2004

dbSNP:

rs1057520122

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

14973782

2004

dbSNP:

rs1299775990

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

14973778

2004

dbSNP:

rs1299775990

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

14709599

2004

dbSNP:

rs1299775990

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

14973782

2004