DisGeNET - a database of gene-disease associations

NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES, C4748127

Source: ALL

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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

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:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

Q9H1B7

interferon regulatory factor 2 binding protein like

120

0.631

0.462

0.84

0.600

strong

1.000

3

7

2014

2019