Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 GeneticVariation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. 27172925

2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 26453362

2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. 27325525

2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 26931382

2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. 22966035

2012
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 GeneticVariation CLINVAR Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 20679665

2010
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 20679665

2010
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 14973778

2004
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR The ALG1 mannosyltransferase defect described here represents a novel type of CDG, which should be referred to as CDG-Ik. 14709599

2004
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1K 		0.740 CausalMutation CLINVAR Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 14973782

2004