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 _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28936381

rs28936381

GFI1

0.800

GeneticVariation

UNIPROT

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.

2003

dbSNP:

rs28936381

rs28936381

GFI1

C

0.800

CausalMutation

CLINVAR