SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. 28065824 2017
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency. 27081545 2015
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females. 24190795 2014
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. 23644449 2013
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Clinical features and X-inactivation in females heterozygous for creatine transporter defect. 20528887 2011
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Treatment of intractable epilepsy in a female with SLC6A8 deficiency. 20846889 2010
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. 24137762 2010
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. 16738945 2006
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR High prevalence of SLC6A8 deficiency in X-linked mental retardation. 15154114 2004
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. 15234334 2004
dbSNP: rs80338739
rs80338739
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Creatine and creatinine metabolism. 10893433 2000