Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554399572
rs1554399572
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554401640
rs1554401640
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554401641
rs1554401641
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554405935
rs1554405935
AGK ; DENND11
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554405947
rs1554405947
AGK ; DENND11
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs387907024
rs387907024
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907025
rs387907025
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs542547163
rs542547163
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs746709222
rs746709222
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs746709222
rs746709222
AGK
CUI: C4551982
Disease: TRICHOHEPATOENTERIC SYNDROME 1
TRICHOHEPATOENTERIC SYNDROME 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs766413410
rs766413410
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593

2017
dbSNP: rs766413410
rs766413410
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593

2017
dbSNP: rs766413410
rs766413410
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		G 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs766413410
rs766413410
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 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
dbSNP: rs766413410
rs766413410
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 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
dbSNP: rs766413410
rs766413410
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 23266196

2013
dbSNP: rs766413410
rs766413410
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 23266196

2013
dbSNP: rs766413410
rs766413410
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		G 0.700 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731

2012
dbSNP: rs766413410
rs766413410
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 22284826

2012
dbSNP: rs766413410
rs766413410
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
dbSNP: rs766413410
rs766413410
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731

2012
dbSNP: rs766413410
rs766413410
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731

2012
dbSNP: rs766413410
rs766413410
AGK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967

2012
dbSNP: rs766413410
rs766413410
AGK
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 CausalMutation CLINVAR Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 22284826

2012
dbSNP: rs766413410
rs766413410
AGK
CUI: C3553494
Disease: CATARACT 38
CATARACT 38 		G 0.700 CausalMutation CLINVAR