Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China. 29614965

2018
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. 29374762

2018
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. 26885414

2016
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. 27106217

2016
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. 26885414

2016
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families. 25827695

2015
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133

2015
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey. 25451950

2015
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases. 25388549

2015
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133

2015
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. 24257475

2014
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Inherent lipid metabolic dysfunction in glycogen storage disease IIIa. 25451272

2014
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. 24257475

2014
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Glycogen storage disease type III: modified Atkins diet improves myopathy. 25431232

2014
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia. 23207808

2013
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. 23430490

2013
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR [AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation]. 24495762

2013
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. 23430490

2013
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 22899091

2013
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia. 23207808

2013
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 CausalMutation CLINVAR [AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation]. 24495762

2013
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR Cardiac Pathology in Glycogen Storage Disease Type III. 23430941

2012
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		1.000 GeneticVariation CLINVAR A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect. 22035446

2012