DisGeNET - a database of gene-disease associations

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu, C3554385

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397514503

rs397514503

DPM2

0.800

GeneticVariation

UNIPROT

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

2012

dbSNP:

rs397514503

rs397514503

DPM2

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs797044467

rs797044467

DPM2

G

0.700

CausalMutation

CLINVAR