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: 7841
Gene Symbol: MOGS
MOGS
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Topology of kinship in Micronesia. 4716661

1973

Entrez Id: 29929
Gene Symbol: ALG6
ALG6
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. 10914684

2000

Entrez Id: 4351
Gene Symbol: MPI
MPI
Congenital Disorders of Glycosylation
0.500 Biomarker GENOMICS_ENGLAND Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). 10980531

2000

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital Disorders of Glycosylation
0.500 Biomarker GENOMICS_ENGLAND Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895

2000

Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. 11326280

2001

Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Congenital Disorders of Glycosylation
0.500 Biomarker GENOMICS_ENGLAND Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations. 11409861

2001

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: 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: 2683
Gene Symbol: B4GALT1
B4GALT1
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. 11901181

2002

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital Disorders of Glycosylation
0.330 Biomarker GENOMICS_ENGLAND Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. 11980916

2002

Entrez Id: 57511
Gene Symbol: COG6
COG6
Congenital Disorders of Glycosylation
0.330 Biomarker GENOMICS_ENGLAND Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. 11980916

2002

Entrez Id: 10466
Gene Symbol: COG5
COG5
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. 11980916

2002

Entrez Id: 22796
Gene Symbol: COG2
COG2
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. 11980916

2002

Entrez Id: 84342
Gene Symbol: COG8
COG8
Congenital Disorders of Glycosylation
0.310 Biomarker GENOMICS_ENGLAND Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. 11980916

2002

Entrez Id: 25839
Gene Symbol: COG4
COG4
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. 11980916

2002

Entrez Id: 79087
Gene Symbol: ALG12
ALG12
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. 11983712

2002

Entrez Id: 2131
Gene Symbol: EXT1
EXT1
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Hereditary multiple exostoses and heparan sulfate polymerization. 12417417

2003

Entrez Id: 2132
Gene Symbol: EXT2
EXT2
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Hereditary multiple exostoses and heparan sulfate polymerization. 12417417

2003

Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1
Congenital Disorders of Glycosylation
0.300 Biomarker GENOMICS_ENGLAND Leukocyte adhesion deficiency II: therapy and genetic defect. 12476046

2004

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