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: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 CausalMutation CLINVAR ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 26931382

2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 CausalMutation CLINVAR Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. 25956699

2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 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: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 CausalMutation CLINVAR Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. 27325525

2016
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 CausalMutation CLINVAR Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. 14973782

2004
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 CausalMutation CLINVAR Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 14709599

2004
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 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: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.170 GeneticVariation CLINVAR