DisGeNET - a database of gene-disease associations

Neutropenia, Severe Congenital, Autosomal Dominant 2, C2751288

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:	2672
Gene Symbol:	GFI1

GFI1

Q99684

growth factor independent 1 transcriptional repressor

Transcription factor

132

0.546

0.769

0.25

0.700

strong

1.000

2

1

2003

2003