DisGeNET - a database of gene-disease associations

CTLA4, cytotoxic T-lymphocyte associated protein 4, 1493

N. diseases: 722; N. variants: 24

Disease: CTLA4 Haploinsufficiency ×

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:

rs1553657378

Entrez Id:	1493
Gene Symbol:	CTLA4

CTLA4

CUI:	C4015214
Disease:

CTLA4 Haploinsufficiency

0.700

GeneticVariation

CLINVAR

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

29077208

2018

dbSNP:

rs1553657387

Entrez Id:	1493
Gene Symbol:	CTLA4

CTLA4

CUI:	C4015214
Disease:

CTLA4 Haploinsufficiency

0.700

GeneticVariation

CLINVAR

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

29077208

2018

dbSNP:

rs1357409506

Entrez Id:	1493
Gene Symbol:	CTLA4

CTLA4

CUI:	C4015214
Disease:

CTLA4 Haploinsufficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553657430

Entrez Id:	1493
Gene Symbol:	CTLA4

CTLA4

CUI:	C4015214
Disease:

CTLA4 Haploinsufficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs606231422

Entrez Id:	1493
Gene Symbol:	CTLA4

CTLA4

CUI:	C4015214
Disease:

CTLA4 Haploinsufficiency

0.700

GeneticVariation

UNIPROT