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:

rs151173406

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

CausalMutation

CLINVAR

dbSNP:

rs151173406

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

GeneticVariation

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:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

CausalMutation

CLINVAR

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

26931382

2016

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

CausalMutation

CLINVAR

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

14973778

2004

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

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:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

CausalMutation

CLINVAR

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

22966035

2012

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

CausalMutation

CLINVAR

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

14709599

2004

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

CausalMutation

CLINVAR

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

CausalMutation

CLINVAR

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

28554332

2017

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

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:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2931005
Disease:

Congenital disorder of glycosylation type 1K

0.800

CausalMutation

CLINVAR

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

27325525

2016

dbSNP:

rs151173406

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

GeneticVariation

CLINVAR

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

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

14973778

2004

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0403399
Disease:

Finnish congenital nephrotic syndrome

0.700

GeneticVariation

CLINVAR

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:

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

GeneticVariation

CLINVAR

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

CausalMutation

CLINVAR

This was supported by the finding that this CDG patient was compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other.

14709599

2004

dbSNP:

rs28939378

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

CausalMutation

CLINVAR

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:	C0282577
Disease:

Congenital Disorders of Glycosylation

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:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

GeneticVariation

CLINVAR

dbSNP:

rs398124349

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.700

GeneticVariation

CLINVAR