AGK, acylglycerol kinase, 55750

N. diseases: 60; N. variants: 15
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777096695
rs777096695
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593 2017
dbSNP: rs777096695
rs777096695
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease:
Muscle hypotonia 		T 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: rs777096695
rs777096695
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. 23266196 2013
dbSNP: rs777096695
rs777096695
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967 2012
dbSNP: rs777096695
rs777096695
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731 2012
dbSNP: rs777096695
rs777096695
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. 22284826 2012