DisGeNET - a database of gene-disease associations

EEF1A2, eukaryotic translation elongation factor 1 alpha 2, 1917

N. diseases: 166; N. variants: 12

Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 ×

Source: ALL

Results per page

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4225343
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

0.600

GeneticVariation

disease

UNIPROT

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

24697219

2015

CUI:	C4225343
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

0.600

Biomarker

disease

CTD_human

CUI:	C4225343
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

0.600

GeneticVariation

disease

CLINVAR

CUI:	C4225343
Disease:	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38

0.600

CausalMutation

disease

CLINVAR