DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Congenital disorder of glycosylation type 1A ×

Variant: rs746610168 ×

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:

rs746610168

PMM2

CUI:	C0349653
Disease:	Congenital disorder of glycosylation type 1A

Congenital disorder of glycosylation type 1A

0.800

GeneticVariation

CLINVAR

GESPA: classifying nsSNPs to predict disease association.

26206375

2015

dbSNP:

rs746610168

PMM2

CUI:	C0349653
Disease:	Congenital disorder of glycosylation type 1A

Congenital disorder of glycosylation type 1A

0.800

GeneticVariation

CLINVAR

The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.

16540464

2006

dbSNP:

rs746610168

PMM2

CUI:	C0349653
Disease:	Congenital disorder of glycosylation type 1A

Congenital disorder of glycosylation type 1A

0.800

GeneticVariation

CLINVAR

A new insight into PMM2 mutations in the French population.

15844218

2005