DisGeNET - a database of gene-disease associations

DPM1, dolichyl-phosphate mannosyltransferase subunit 1, catalytic, 8813

N. diseases: 57; N. variants: 7

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:

rs587777116

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

CausalMutation

CLINVAR

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis.

26729507

2016

dbSNP:

rs121908583

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

23856421

2013

dbSNP:

rs587777114

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

23856421

2013

dbSNP:

rs587777116

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

CausalMutation

CLINVAR

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

23856421

2013

dbSNP:

rs587777116

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

23856421

2013

dbSNP:

rs121908583

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

15669674

2004

dbSNP:

rs587777114

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

15669674

2004

dbSNP:

rs587777116

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

15669674

2004

dbSNP:

rs121908583

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

10642597

2000

dbSNP:

rs121908583

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

10642602

2000

dbSNP:

rs587777114

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

10642597

2000

dbSNP:

rs587777114

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

10642602

2000

dbSNP:

rs587777116

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

10642597

2000

dbSNP:

rs587777116

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

GeneticVariation

UNIPROT

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

10642602

2000

dbSNP:

rs121908583

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777114

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.800

CausalMutation

CLINVAR

dbSNP:

rs1272097668

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.700

CausalMutation

CLINVAR

dbSNP:

rs1568757730

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777115

Entrez Id:	8813
Gene Symbol:	DPM1

DPM1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.700

CausalMutation

CLINVAR

dbSNP:

rs753780084

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C1837396
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777116

Entrez Id:	8813;101927631
Gene Symbol:	DPM1;ADNP-AS1

DPM1;ADNP-AS1

CUI:	C0282577
Disease:

Congenital Disorders of Glycosylation

0.010

GeneticVariation

BEFREE

Carbohydrate deficient transferrin testing showed a pattern pointing to a CDG type I. Sanger sequencing of DPM1 (dolichol-P-mannose synthase subunit 1) revealed a novel Gly > Val change c.455G > T missense mutation resulting in p.Gly152Val) of unknown pathogenicity and deletion/duplication analysis revealed an intragenic deletion from exons 3 to 7 on the other allele.

23856421

2013