Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker BEFREE Creatine transporter (CrT) deficiency is an X-linked intellectual disability caused by mutations of CrT. 31038003

2019

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Mutations in creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, seizures, movement and autistic-like behavioral disturbances, language and speech impairment. 30635645

2019

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. 30400883

2018

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. 28065824

2017

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. 27096572

2016

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment. 27466184

2016

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker BEFREE Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. 23578822

2013

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Deficiency caused by mutations in the creatine transporter gene (SLC6A8/CT1) is an X-linked form of intellectual disability. 24140398

2013

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker BEFREE The only SLC6A8-deficient female patient in our series presented with the severe phenotype usually characterizing affected male patients, an observation in agreement with recent evidence that is in support of the fact that this X-linked disorder might be more frequent than expected in the female population with intellectual disability. 23234264

2012

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. 21556832

2012

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352). 22713831

2012

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). 21910234

2011

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker BEFREE For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability. 21267006

2011

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. 17603797

2007

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Our findings of a minimum of four pathogenic mutations and two potentially pathogenic mutations indicate that about 1% of males with MR of unknown etiology might have a SLC6A8 mutation. 16738945

2006

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation LHGDN Our findings of a minimum of four pathogenic mutations and two potentially pathogenic mutations indicate that about 1% of males with MR of unknown etiology might have a SLC6A8 mutation. 16738945

2006

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker HPO