Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 201595
Gene Symbol: STT3B
STT3B
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 790
Gene Symbol: CAD
CAD
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 9382
Gene Symbol: COG1
COG1
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 116150
Gene Symbol: NUS1
NUS1
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. 27743886

2017

Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. 27343064

2017

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: 79053
Gene Symbol: ALG8
ALG8
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. 12480927

2003

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital Disorders of Glycosylation
0.500 Biomarker GENOMICS_ENGLAND A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. 11875054

2002

Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. 26086840

2016

Entrez Id: 10466
Gene Symbol: COG5
COG5
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. 28960046

2018

Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. 21295282

2011

Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. 24026681

2014

Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). 11733556

2002

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. 25778940

2016

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

Entrez Id: 85365
Gene Symbol: ALG2
ALG2
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. 12684507

2003

Entrez Id: 22856
Gene Symbol: CHSY1
CHSY1
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. 24269551

2014

Entrez Id: 51604
Gene Symbol: PIGT
PIGT
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. 23636107

2014

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: 23556
Gene Symbol: PIGN
PIGN
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. 26419326

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: 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: 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