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:

rs201337379

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:

rs201337379

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:

rs201337379

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:

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:	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:

rs398124348

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:

rs398124348

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:

rs398124348

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:

rs398124349

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:

rs398124349

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:

rs398124349

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:

rs553396382

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:

rs553396382

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:

rs553396382

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:

rs794727301

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:

rs794727301

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:

rs794727301

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:

rs1009298200

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0005697
Disease:

Neurogenic Urinary Bladder

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1009298200

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0262655
Disease:

Recurrent urinary tract infection

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1009298200

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0494475
Disease:

Tonic - clonic seizures

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1009298200

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0549629
Disease:

Abnormal delivery

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1009298200

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C1963101
Disease:

Encephalopathy, CTCAE 3.0

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1009298200

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C0015300
Disease:

Exophthalmos

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1009298200

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

CUI:	C2712334
Disease:

Actual Aspiration

0.700

GeneticVariation

CLINVAR