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 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Type

Disease Class

Semantic Type

N. genes_d

N. SNPs_d

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

CUI:	C3489627
Disease:	Stuttering, Familial Persistent 1

Stuttering, Familial Persistent 1

disease

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

Disease or Syndrome

2

16

0.600

None

1.000

1

16

2015

2015