Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital Disorders of Glycosylation
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
Congenital Disorders of Glycosylation
0.470 Biomarker GENOMICS_ENGLAND

Entrez Id: 4351
Gene Symbol: MPI
MPI
Congenital Disorders of Glycosylation
0.400 Biomarker GENOMICS_ENGLAND Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. 9585601

1998

Entrez Id: 4351
Gene Symbol: MPI
MPI
Congenital Disorders of Glycosylation
0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Congenital Disorders of Glycosylation
0.390 Biomarker GENOMICS_ENGLAND

Entrez Id: 7841
Gene Symbol: MOGS
MOGS
Congenital Disorders of Glycosylation
0.360 Biomarker GENOMICS_ENGLAND

Entrez Id: 22845
Gene Symbol: DOLK
DOLK
Congenital Disorders of Glycosylation
0.330 Biomarker GENOMICS_ENGLAND Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. 22242004

2011

Entrez Id: 8813
Gene Symbol: DPM1
DPM1
Congenital Disorders of Glycosylation
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 22845
Gene Symbol: DOLK
DOLK
Congenital Disorders of Glycosylation
0.330 Biomarker GENOMICS_ENGLAND Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement. 28816422

2017

Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 197258
Gene Symbol: FCSK
FCSK
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. 30503518

2018