DisGeNET - a database of gene-disease associations

SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

25861866

2015

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

23660394

2013

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

11898126

2002

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

CausalMutation

CLINVAR

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

24123876

2013

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

17465020

2007

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

17101918

2006

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

15154114

2004

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

12210795

2002

dbSNP:

rs122453114

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

24123876

2013

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

15154114

2004

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

12210795

2002

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

17465020

2007

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

25861866

2015

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

23660394

2013

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

17101918

2006

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

CausalMutation

CLINVAR

dbSNP:

rs122453116

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

11898126

2002

dbSNP:

rs122453117

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

17465020

2007

dbSNP:

rs122453117

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs122453117

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

12210795

2002

dbSNP:

rs122453117

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

25861866

2015

dbSNP:

rs122453117

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C1845862
Disease:

Creatine deficiency, X-linked

0.800

GeneticVariation

UNIPROT

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

15154114

2004