DisGeNET - a database of gene-disease associations

FLI1, Fli-1 proto-oncogene, ETS transcription factor, 2313

N. diseases: 318; N. variants: 17

Source: ALL

Results per page

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1064797083

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs1064797083

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

GeneticVariation

CLINVAR

dbSNP:

rs1064797083

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1064797084

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs1064797084

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1064797086

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs1064797086

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1064797087

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1064797087

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs773148506

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

GeneticVariation

UNIPROT

dbSNP:

rs773148506

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs1064797086

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0795841
Disease:

Jacobsen Distal 11q Deletion Syndrome

0.700

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs11221443

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs648193

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs680952

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs1623169

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0339682
Disease:

Regular astigmatism - corneal

0.700

GeneticVariation

GWASCAT

Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

30306274

2018

dbSNP:

rs695113

Entrez Id:	2313;100507392
Gene Symbol:	FLI1;SENCR

FLI1;SENCR

CUI:	C0200641
Disease:

Blood basophil count (lab test)

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs10893909

Entrez Id:	2313;100507392
Gene Symbol:	FLI1;SENCR

FLI1;SENCR

CUI:	C0032181
Disease:

Platelet Count measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs561079

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0042900
Disease:

Vitiligo

0.700

GeneticVariation

GWASCAT

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

27723757

2016

dbSNP:

rs665440

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0154778
Disease:

Myopia, Degenerative

0.700

GeneticVariation

GWASCAT

A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.

23049088

2012

dbSNP:

rs654723

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

20881960

2010

dbSNP:

rs654723

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0489786
Disease:

Height

0.700

GeneticVariation

GWASDB

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

20881960

2010

dbSNP:

rs1064797085

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C0040034
Disease:

Thrombocytopenia

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1064797085

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C4479515
Disease:

BLEEDING DISORDER, PLATELET-TYPE, 21

0.700

CausalMutation

CLINVAR

dbSNP:

rs1064797086

Entrez Id:	2313
Gene Symbol:	FLI1

FLI1

CUI:	C2751260
Disease:

Macrothrombocytopenia

0.010

GeneticVariation

BEFREE

This strategy led to the identification of two novel <i>FLI1</i> variants (c.1010G>A and c.1033A>G) responsible for macrothrombocytopenia.

28255014

2017