DisGeNET - a database of gene-disease associations

rs733618, CTLA4

N. diseases: 12

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Malignant Neoplasms

CUI:	C0006826
Disease:	Malignant Neoplasms

1641

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.030

1.000

2014

2018

Myasthenia Gravis

CUI:	C0026896
Disease:	Myasthenia Gravis

93

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.030

0.667

2017

2019

Primary malignant neoplasm

CUI:	C1306459
Disease:	Primary malignant neoplasm

1374

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.030

1.000

2014

2018

Breast Carcinoma

CUI:	C0678222
Disease:	Breast Carcinoma

2793

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

2017

2017

Drug-Induced Liver Disease

CUI:	C0860207
Disease:	Drug-Induced Liver Disease

29

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

1.000

2012

2012

Filarial Elephantiases

CUI:	C0013884
Disease:	Filarial Elephantiases

10

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

1.000

2011

2011

Graves Disease

CUI:	C0018213
Disease:	Graves Disease

352

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

1.000

2008

2008

Lupus Erythematosus, Systemic

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

1172

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

1.000

2013

2013

Malignant neoplasm of breast

CUI:	C0006142
Disease:	Malignant neoplasm of breast

3417

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

2017

2017

Multiple Myeloma

CUI:	C0026764
Disease:	Multiple Myeloma

865

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

1.000

2018

2018

Non-Small Cell Lung Carcinoma

CUI:	C0007131
Disease:	Non-Small Cell Lung Carcinoma

712

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

1.000

2017

2017

Thyroid associated opthalmopathies

CUI:	C0339143
Disease:	Thyroid associated opthalmopathies

49

0.763

0.440

2

203866221

upstream gene variant

T/C

snv

0.10

0.010

1.000

2019

2019