Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C3550904
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 		0.700 Biomarker GENOMICS_ENGLAND Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing. 25732998

2015
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C3550904
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 		0.700 Biomarker GENOMICS_ENGLAND Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 22492991

2012
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.320 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.320 Biomarker GENOMICS_ENGLAND Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 22492991

2012
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		0.300 Biomarker GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		0.300 Biomarker GENOMICS_ENGLAND