Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation CLINVAR

Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C3553494
Disease: CATARACT 38
CATARACT 38 		0.600 CausalMutation CLINVAR

Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593

2017
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593

2017
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. 25208612

2014
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. 25208612

2014
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 23266196

2013
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 23266196

2013
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 22284826

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 22284826

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C4551982
Disease: TRICHOHEPATOENTERIC SYNDROME 1
TRICHOHEPATOENTERIC SYNDROME 1 		0.100 CausalMutation CLINVAR