Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6748
Gene Symbol: SSR4
SSR4
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Expanding the Molecular and Clinical Phenotype of SSR4-CDG. 26264460

2016

Entrez Id: 7841
Gene Symbol: MOGS
MOGS
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 26805780

2016

Entrez Id: 79796
Gene Symbol: ALG9
ALG9
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. 26637978

2016

Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. 26637979

2016

Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 79796
Gene Symbol: ALG9
ALG9
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. 25966638

2016

Entrez Id: 22796
Gene Symbol: COG2
COG2
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. 24784932

2016

Entrez Id: 440138
Gene Symbol: ALG11
ALG11
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 7991
Gene Symbol: TUSC3
TUSC3
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Mammalian cells lacking either the cotranslational or posttranslocational oligosaccharyltransferase complex display substrate-dependent defects in asparagine linked glycosylation. 26864433

2016

Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Immunological aspects of congenital disorders of glycosylation (CDG): a review. 27393411

2016

Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND MAN1B1 deficiency: an unexpected CDG-II. 24348268

2014

Entrez Id: 7841
Gene Symbol: MOGS
MOGS
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Glycosylation, hypogammaglobulinemia, and resistance to viral infections. 24716661

2014

Entrez Id: 8813
Gene Symbol: DPM1
DPM1
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. 23856421

2014

Entrez Id: 8818
Gene Symbol: DPM2
DPM2
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 23109149

2013

Entrez Id: 440138
Gene Symbol: ALG11
ALG11
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. 22213132

2012

Entrez Id: 1650
Gene Symbol: DDOST
DDOST
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527

2012

Entrez Id: 2683
Gene Symbol: B4GALT1
B4GALT1
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. 21920538

2011

Entrez Id: 10195
Gene Symbol: ALG3
ALG3
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. 19862844

2010

Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND MGAT2 deficiency (CDG-IIa): the Life of J. 19419693

2009

Entrez Id: 54344
Gene Symbol: DPM3
DPM3
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. 19576565

2009

Entrez Id: 7991
Gene Symbol: TUSC3
TUSC3
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. 18452889

2008

Entrez Id: 7991
Gene Symbol: TUSC3
TUSC3
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. 18455129

2008

Entrez Id: 84342
Gene Symbol: COG8
COG8
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND COG8 deficiency causes new congenital disorder of glycosylation type IIh. 17331980

2007

Entrez Id: 84342
Gene Symbol: COG8
COG8
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. 17220172

2007