DisGeNET - a database of gene-disease associations

MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder), C1846278

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

Gene

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	1968
Gene Symbol:	EIF2S3

EIF2S3

P41091

eukaryotic translation initiation factor 2 subunit gamma

Enzyme

107

0.604

0.731

0.96

0.750

strong

1.000

8

5

1998

2020

Entrez Id:	1965
Gene Symbol:	EIF2S1

EIF2S1

P05198

eukaryotic translation initiation factor 2 subunit alpha

Nucleic acid binding

84

0.587

0.692

0.97

0.020

None

1.000

2

0

2019

2020

Entrez Id:	8894
Gene Symbol:	EIF2S2

EIF2S2

P20042

eukaryotic translation initiation factor 2 subunit beta

Nucleic acid binding

69

0.621

0.577

0.95

0.020

None

1.000

2

0

2019

2020