Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C2931004
Disease: Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1J 		0.730 Biomarker GENOMICS_ENGLAND Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain. 30653653

2019
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C2931004
Disease: Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1J 		0.730 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C2931004
Disease: Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1J 		0.730 Biomarker GENOMICS_ENGLAND Congenital myasthenic syndrome caused by mutations in DPAGT. 25500013

2015
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C2931004
Disease: Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1J 		0.730 Biomarker GENOMICS_ENGLAND Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 22492991

2012
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13 		0.600 Biomarker GENOMICS_ENGLAND Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain. 30653653

2019
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13 		0.600 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13 		0.600 Biomarker GENOMICS_ENGLAND Congenital myasthenic syndrome caused by mutations in DPAGT. 25500013

2015
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13 		0.600 Biomarker GENOMICS_ENGLAND Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. 22742743

2012
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C3553645
Disease: MYASTHENIC SYNDROME, CONGENITAL, 13
MYASTHENIC SYNDROME, CONGENITAL, 13 		0.600 Biomarker GENOMICS_ENGLAND Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 22492991

2012
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
CUI: C0333768
Disease: Tubular aggregates
Tubular aggregates 		0.300 Biomarker GENOMICS_ENGLAND Congenital myasthenic syndrome caused by mutations in DPAGT. 25500013

2015