DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Anemia, Sickle Cell ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1896295

BCL11A

1.000

0.080

60496951

intron variant

T/C

snv

0.81

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs1896296

BCL11A

1.000

0.080

60496952

intron variant

G/T

snv

0.80

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs766432

BCL11A

0.925

0.080

60492835

intron variant

C/A

snv

0.80

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

2014

dbSNP:

rs7952106

1.000

0.080

113553836

regulatory region variant

G/T

snv

0.71

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2013

dbSNP:

rs11886868

BCL11A

0.752

0.280

60493111

intron variant

C/T

snv

0.65

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.710

1.000

2011

2016

dbSNP:

rs7584113

BCL11A

1.000

0.080

60494176

intron variant

A/G

snv

0.64

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs10172646

BCL11A

1.000

0.080

60493622

intron variant

G/A

snv

0.64

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs7557939

BCL11A

1.000

0.080

60494212

intron variant

G/A

snv

0.64

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs2445284

1.000

0.080

5008473

downstream gene variant

C/T

snv

0.57

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2013

dbSNP:

rs6545816

BCL11A

1.000

0.080

60487726

intron variant

A/C;G

snv

0.50

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs6545817

BCL11A

1.000

0.080

60488044

intron variant

C/T

snv

0.49

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs6729815

BCL11A

1.000

0.080

60496537

intron variant

T/C

snv

0.49

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs7948471

HBE1 ; HBG2 ; OR51B5 ; OR51I2

1.000

0.080

5450516

intron variant

G/A

snv

0.47

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2013

dbSNP:

rs10189857

BCL11A

1.000

0.080

60486100

intron variant

A/G

snv

0.42

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs7599488

BCL11A

0.925

0.120

60491212

intron variant

C/T

snv

0.42

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs7606173

BCL11A

1.000

0.080

60498316

intron variant

G/C;T

snv

0.39

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs887829

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3

0.763

0.280

233759924

intron variant

C/T

snv

0.36

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2012

dbSNP:

rs6738440

BCL11A

1.000

0.080

60495106

intron variant

A/G

snv

0.26

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs7565301

BCL11A

1.000

0.080

60496131

intron variant

G/A

snv

0.25

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs1318772

MCC

1.000

0.080

113387870

intron variant

A/G

snv

0.18

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011

dbSNP:

rs67072384

ARAP1

0.925

0.080

72739679

intron variant

C/T

snv

0.14

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2014

dbSNP:

rs7216169

RABEP1

1.000

0.080

5316216

intron variant

C/T

snv

0.12

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2017

dbSNP:

rs543023132

1.000

0.080

155652652

downstream gene variant

TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT

delins

0.12

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2017

dbSNP:

rs1669539

1.000

0.080

105998818

intergenic variant

T/C

snv

7.1E-02

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2013

dbSNP:

rs11968814

1.000

0.080

71067268

intergenic variant

G/A

snv

4.4E-02

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.700

1.000

2011