DisGeNET - a database of gene-disease associations

AP4E1, adaptor related protein complex 4 subunit epsilon 1, 23431

N. diseases: 72; N. variants: 19

Disease: Stuttering, Familial Persistent 1 ×

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:

rs139640763

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs141278078

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs200678853

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs372479885

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs536656846

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs542940704

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs550237440

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs556450190

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs566579877

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs760021635

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

26544806

2015

dbSNP:

rs148499164

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1555462184

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

CTA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs766696884

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs767423538

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs780520338

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs866266998

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

CUI:	C3489627
Disease:

Stuttering, Familial Persistent 1

0.700

GeneticVariation

UNIPROT