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 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: 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: 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: 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: 55858
Gene Symbol: TMEM165
TMEM165
Congenital Disorders of Glycosylation
0.360 Biomarker GENOMICS_ENGLAND TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087

2012

Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
Congenital Disorders of Glycosylation
0.360 Biomarker GENOMICS_ENGLAND TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis. 27401145

2017

Entrez Id: 57511
Gene Symbol: COG6
COG6
Congenital Disorders of Glycosylation
0.330 Biomarker GENOMICS_ENGLAND Key features and clinical variability of COG6-CDG. 26260076

2016

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital Disorders of Glycosylation
0.330 Biomarker GENOMICS_ENGLAND Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 15107842

2004

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 A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. 28960046

2018

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849

2013

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: 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: 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: 79644
Gene Symbol: SRD5A3
SRD5A3
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. 27480077

2017

Entrez Id: 10466
Gene Symbol: COG5
COG5
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND COG5-CDG: expanding the clinical spectrum. 23228021

2014

Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. 22304930

2012

Entrez Id: 3703
Gene Symbol: STT3A
STT3A
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455

2014

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: 10466
Gene Symbol: COG5
COG5
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND COG5-CDG with a Mild Neurohepatic Presentation. 23430875

2012

Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. 12872255

2004

Entrez Id: 91869
Gene Symbol: RFT1
RFT1
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND RFT1-CDG in adult siblings with novel mutations. 23111317

2013

Entrez Id: 10466
Gene Symbol: COG5
COG5
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. 19690088

2010

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

2014