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:

rs121908340

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14709599

2004

dbSNP:

rs121908340

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14973782

2004

dbSNP:

rs121908340

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14973778

2004

dbSNP:

rs121908340

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

26931382

2016

dbSNP:

rs151173406

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14709599

2004

dbSNP:

rs151173406

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14973782

2004

dbSNP:

rs151173406

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14973778

2004

dbSNP:

rs151173406

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

26931382

2016

dbSNP:

rs267606651

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14973778

2004

dbSNP:

rs267606651

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

26931382

2016

dbSNP:

rs267606651

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14709599

2004

dbSNP:

rs267606651

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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

14973782

2004

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

UNIPROT

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:

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:

rs1180515976

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

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

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

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

14973782

2004

dbSNP:

rs16835020

Entrez Id:	56052;196483
Gene Symbol:	ALG1;EEF2KMT

ALG1;EEF2KMT

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

dbSNP:

rs192564717

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT

dbSNP:

rs200605408

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.700

GeneticVariation

UNIPROT